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    FGFR3 fibroblast growth factor receptor 3 [ Homo sapiens (human) ]

    Gene ID: 2261, updated on 29-Oct-2024

    Summary

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    Official Symbol
    FGFR3provided by HGNC
    Official Full Name
    fibroblast growth factor receptor 3provided by HGNC
    Primary source
    HGNC:HGNC:3690
    See related
    Ensembl:ENSG00000068078 MIM:134934; AllianceGenome:HGNC:3690
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACH; CEK2; JTK4; CD333; HSFGFR3EX
    Summary
    This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
    Expression
    Biased expression in skin (RPKM 120.7), esophagus (RPKM 18.0) and 8 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FGFR3 in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (1793293..1808867)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (1791772..1807344)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (1795020..1810594)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene transforming acidic coiled-coil containing protein 3 Neighboring gene uncharacterized LOC112268460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1755043-1755650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1767895-1768754 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1769833-1770398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1770399-1770964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15143 Neighboring gene uncharacterized LOC124900648 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:1779273-1780036 Neighboring gene CRISPRi-validated cis-regulatory element chr4.260 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15144 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15145 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1796986-1797514 Neighboring gene leucine zipper and EF-hand containing transmembrane protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1828066-1828868 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1844335-1844585 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:1856349-1856525 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:1857091-1857592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:1858969-1859764 Neighboring gene RNA, 7SL, cytoplasmic 671, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Thanatophoric Dysplasia. Adam MP, et al. , 1993. PMID 20301540
    2. No mutations of FGFR3 in normal urothelium in the vicinity of urothelial carcinoma of the bladder harbouring activating FGFR3 mutations in patients with bladder cancer. Otto W, et al. Int J Cancer, 2009 Nov 1. PMID 19621447
    3. Occupational exposure to polycyclic aromatic hydrocarbons influenced neither the frequency nor the spectrum of FGFR3 mutations in bladder urothelial carcinoma. Bakkar AA, et al. Mol Carcinog, 2010 Jan. PMID 19722178
    4. FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1. Yang Y, et al. Fetal Diagn Ther, 2009. PMID 19752524
    5. FGFR3 amplification in the absence of IGH@-FGFR3 fusion t(4;14) in myeloma. Quintero-Rivera F, et al. Cancer Genet Cytogenet, 2009 Nov. PMID 19837276

    See all (612) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FGFR3 alterations in bladder cancer: Sensitivity and resistance to targeted therapies.
      Title: FGFR3 alterations in bladder cancer: Sensitivity and resistance to targeted therapies.
    2. Muscle-Invasive Bladder Cancer With Hydronephrosis Exhibits a High Frequency of Mutations in Fibroblast Growth Factor Receptor 3 Gene.
      Title: Muscle-Invasive Bladder Cancer With Hydronephrosis Exhibits a High Frequency of Mutations in Fibroblast Growth Factor Receptor 3 Gene.
    3. [Clinical characteristics and prognosis of newly diagnosed multiple myeloma patients with FGFR3 gene mutations].
      Title: [Clinical characteristics and prognosis of newly diagnosed multiple myeloma patients with FGFR3 gene mutations].
    4. Associations of TACSTD2/TROP2 and NECTIN-4/NECTIN-4 with molecular subtypes, PD-L1 expression, and FGFR3 mutational status in two advanced urothelial bladder cancer cohorts.
      Title: Associations of TACSTD2/TROP2 and NECTIN-4/NECTIN-4 with molecular subtypes, PD-L1 expression, and FGFR3 mutational status in two advanced urothelial bladder cancer cohorts.
    5. Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias.
      Title: Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias.
    6. N-glycan on N262 of FGFR3 regulates the intracellular localization and phosphorylation of the receptor.
      Title: N-glycan on N262 of FGFR3 regulates the intracellular localization and phosphorylation of the receptor.
    7. Non-Small Cell Lung Carcinoma With Clear Cell Features and FGFR3::TACC3 Gene Rearrangement : Clinicopathologic and Next Generation Sequencing Study of 7 Cases.
      Title: Non-Small Cell Lung Carcinoma With Clear Cell Features and FGFR3::TACC3 Gene Rearrangement : Clinicopathologic and Next Generation Sequencing Study of 7 Cases.
    8. FGFR3 Alterations in Bladder Cancer Stimulate Serine Synthesis to Induce Immune-Inert Macrophages That Suppress T-cell Recruitment and Activation.
      Title: FGFR3 Alterations in Bladder Cancer Stimulate Serine Synthesis to Induce Immune-Inert Macrophages That Suppress T-cell Recruitment and Activation.
    9. Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.
      Title: Unravelling the pathogenesis of foramen magnum stenosis in patients with severe achondroplasia: a CT-based comparison with age-matched controls and FGFR3 craniosynostosis syndromes.
    10. Genome-wide open reading frame profiling identifies fibroblast growth factor signaling as a driver of PD-L1 expression in head and neck squamous cell carcinoma.
      Title: Genome-wide open reading frame profiling identifies fibroblast growth factor signaling as a driver of PD-L1 expression in head and neck squamous cell carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (454)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Achondroplasia
    MedGen: C0001080 OMIM: 100800 GeneReviews: Achondroplasia
    		not available
    Camptodactyly-tall stature-scoliosis-hearing loss syndrome
    MedGen: C1864852 OMIM: 610474 GeneReviews: Not available
    		not available
    Cervical cancer
    MedGen: C4048328 OMIM: 603956 GeneReviews: Not available
    		not available
    Colorectal cancer
    MedGen: C0346629 OMIM: 114500 GeneReviews: Lynch Syndrome
    		not available
    Crouzon syndrome-acanthosis nigricans syndrome
    MedGen: C2677099 OMIM: 612247 GeneReviews: FGFR Craniosynostosis Syndromes Overview
    		not available
    Epidermal nevus
    MedGen: C0334082 OMIM: 162900 GeneReviews: PIK3CA-Related Overgrowth Spectrum
    		not available
    Germ cell tumor of testis
    MedGen: C1336708 OMIM: 273300 GeneReviews: Not available
    		not available
    Hypochondroplasia
    MedGen: C0410529 OMIM: 146000 GeneReviews: Hypochondroplasia
    		not available
    Isolated coronal synostosis
    MedGen: CN043619 GeneReviews: FGFR Craniosynostosis Syndromes Overview
    		not available
    Lacrimoauriculodentodigital syndrome 2
    MedGen: C5774286 OMIM: 620192 GeneReviews: Not available
    		not available
    Malignant tumor of urinary bladder
    MedGen: C0005684 OMIM: 109800 GeneReviews: Not available
    		not available
    Muenke syndrome
    MedGen: C1864436 OMIM: 602849 GeneReviews: Muenke Syndrome, FGFR Craniosynostosis Syndromes Overview
    		not available
    Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
    MedGen: C2674173 OMIM: 616482 GeneReviews: Not available
    		not available
    Thanatophoric dysplasia type 1
    MedGen: C1868678 OMIM: 187600 GeneReviews: Thanatophoric Dysplasia
    		not available
    Thanatophoric dysplasia, type 2
    MedGen: C1300257 OMIM: 187601 GeneReviews: Thanatophoric Dysplasia
    		not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2011-11-09)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2011-11-09)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci.
    EBI GWAS Catalog
    A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci associated with bladder cancer risk.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables fibroblast growth factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables fibroblast growth factor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables fibroblast growth factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables fibroblast growth factor receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables fibroblast growth factor receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in MAPK cascade TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in bone maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in bone morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in bone morphogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell surface receptor signaling pathway via JAK-STAT IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell-cell signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chondrocyte differentiation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in chondrocyte proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in endochondral bone growth TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in endochondral ossification TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in fibroblast growth factor receptor apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fibroblast growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within fibroblast growth factor receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of developmental growth ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of cell population proliferation IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of phospholipase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of tyrosine phosphorylation of STAT protein IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with focal adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in transport vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    fibroblast growth factor receptor 3
    Names
    FGFR-3
    fibroblast growth factor receptor 3-S
    hydroxyaryl-protein kinase
    tyrosine kinase JTK4
    NP_000133.1
    NP_001156685.1
    NP_001341738.1
    NP_001341739.1
    NP_075254.1
    XP_006713931.1
    XP_006713932.1
    XP_006713933.1
    XP_006713934.1
    XP_006713936.1
    XP_011511722.1
    XP_011511724.1
    XP_047305776.1
    XP_047305777.1
    XP_047305778.1
    XP_047305779.1
    XP_047305780.1
    XP_054205236.1
    XP_054205237.1
    XP_054205238.1
    XP_054205239.1
    XP_054205240.1
    XP_054205241.1
    XP_054205242.1
    XP_054205243.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012632.1 RefSeqGene

      Range
      5001..20561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1021

    mRNA and Protein(s)

    1. NM_000142.5 → NP_000133.1  fibroblast growth factor receptor 3 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000133.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate coding exon and contains another alternate coding exon compared to variant 3. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 3.
      Source sequence(s)
      AC016773
      Consensus CDS
      CCDS3353.1
      UniProtKB/Swiss-Prot
      D3DVP9, D3DVQ0, P22607, Q14308, Q16294, Q16608, Q59FL9
      UniProtKB/TrEMBL
      A0A7I2RW32
      Related
      ENSP00000414914.2, ENST00000440486.8
      Conserved Domains (7) summary
      cd05857
      Location:161 → 245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268 → 357
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:53 → 110
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:54 → 125
      IG; Immunoglobulin
      smart00410
      Location:260 → 356
      IG_like; Immunoglobulin like
      pfam07714
      Location:472 → 748
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:459 → 792
      PKc_like; Protein Kinases, catalytic domain

    2. NM_001163213.2 → NP_001156685.1  fibroblast growth factor receptor 3 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001156685.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), also known as isoform IIIb, encodes the longest isoform (3).
      Source sequence(s)
      AC016773
      Consensus CDS
      CCDS54706.1
      UniProtKB/TrEMBL
      Q8NI16
      Related
      ENSP00000339824.4, ENST00000340107.9
      Conserved Domains (7) summary
      cd04974
      Location:268 → 356
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161 → 245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00408
      Location:53 → 110
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:54 → 125
      IG; Immunoglobulin
      smart00410
      Location:260 → 355
      IG_like; Immunoglobulin like
      pfam07714
      Location:474 → 750
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:461 → 794
      PKc_like; Protein Kinases, catalytic domain

    3. NM_001354809.2 → NP_001341738.1  fibroblast growth factor receptor 3 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate coding exon, contains another alternate coding exon, and uses an alternate in-frame splice junction compared to variant 3. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 3.
      Source sequence(s)
      AC016773
      UniProtKB/TrEMBL
      A0A7I2RW32, X5D2G8
      Conserved Domains (4) summary
      cd05857
      Location:161 → 245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268 → 357
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:53 → 110
      IGc2; Immunoglobulin C-2 Type
      cl21453
      Location:460 → 793
      PKc_like; Protein Kinases, catalytic domain

    4. NM_001354810.2 → NP_001341739.1  fibroblast growth factor receptor 3 isoform 5 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate coding exons, contains another alternate coding exon, and uses an alternate in-frame splice junction compared to variant 3. The resulting isoform (5) has multiple differences compared to isoform 3.
      Source sequence(s)
      AC016773
      Consensus CDS
      CCDS87200.1
      UniProtKB/TrEMBL
      A0A7I2RW32, F8W9L4
      Related
      ENSP00000420533.2, ENST00000481110.7
      Conserved Domains (4) summary
      cd05857
      Location:161 → 245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268 → 357
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:53 → 110
      IGc2; Immunoglobulin C-2 Type
      cl21453
      Location:460 → 654
      PKc_like; Protein Kinases, catalytic domain

    5. NM_022965.4 → NP_075254.1  fibroblast growth factor receptor 3 isoform 2 precursor

      See identical proteins and their annotated locations for NP_075254.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate coding exons compared to variant 3. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 3.
      Source sequence(s)
      AC016773
      Consensus CDS
      CCDS3354.1
      UniProtKB/TrEMBL
      A0A7I2RW32
      Related
      ENSP00000231803.1, ENST00000352904.6
      Conserved Domains (6) summary
      cd04974
      Location:268 → 357
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161 → 245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00408
      Location:53 → 110
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:260 → 289
      IG; Immunoglobulin
      pfam07714
      Location:360 → 636
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:347 → 680
      PKc_like; Protein Kinases, catalytic domain

    RNA

    1. NR_148971.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate exon compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC016773

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      1793293..1808867
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713868.2 → XP_006713931.1  fibroblast growth factor receptor 3 isoform X1

      UniProtKB/TrEMBL
      Q8NI16
      Conserved Domains (7) summary
      cd04974
      Location:268 → 356
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161 → 245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00408
      Location:53 → 110
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:54 → 125
      IG; Immunoglobulin
      smart00410
      Location:260 → 355
      IG_like; Immunoglobulin like
      pfam07714
      Location:476 → 752
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:463 → 797
      PKc_like; Protein Kinases, catalytic domain

    2. XM_006713869.2 → XP_006713932.1  fibroblast growth factor receptor 3 isoform X3

      UniProtKB/TrEMBL
      Q8NI16
      Conserved Domains (7) summary
      cd04974
      Location:268 → 356
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161 → 245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00408
      Location:53 → 110
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:54 → 125
      IG; Immunoglobulin
      smart00410
      Location:260 → 355
      IG_like; Immunoglobulin like
      pfam07714
      Location:476 → 752
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:463 → 796
      PKc_like; Protein Kinases, catalytic domain

    3. XM_006713870.2 → XP_006713933.1  fibroblast growth factor receptor 3 isoform X2

      UniProtKB/TrEMBL
      Q8NI16
      Conserved Domains (7) summary
      cd04974
      Location:268 → 356
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161 → 245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00408
      Location:53 → 110
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:54 → 125
      IG; Immunoglobulin
      smart00410
      Location:260 → 355
      IG_like; Immunoglobulin like
      pfam07714
      Location:475 → 751
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:462 → 796
      PKc_like; Protein Kinases, catalytic domain

    4. XM_047449821.1 → XP_047305777.1  fibroblast growth factor receptor 3 isoform X4

    5. XM_006713871.2 → XP_006713934.1  fibroblast growth factor receptor 3 isoform X5

      UniProtKB/TrEMBL
      Q8NI16
      Conserved Domains (7) summary
      cd04974
      Location:268 → 356
      Ig3_FGFR; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor (FGFR)
      cd05857
      Location:161 → 245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      smart00408
      Location:53 → 110
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:54 → 125
      IG; Immunoglobulin
      smart00410
      Location:260 → 355
      IG_like; Immunoglobulin like
      pfam07714
      Location:474 → 750
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:461 → 795
      PKc_like; Protein Kinases, catalytic domain

    6. XM_011513420.2 → XP_011511722.1  fibroblast growth factor receptor 3 isoform X6

      UniProtKB/TrEMBL
      A0A7I2RW32
      Conserved Domains (7) summary
      cd05857
      Location:161 → 245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268 → 357
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:53 → 110
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:54 → 125
      IG; Immunoglobulin
      smart00410
      Location:260 → 356
      IG_like; Immunoglobulin like
      pfam07714
      Location:474 → 750
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:461 → 795
      PKc_like; Protein Kinases, catalytic domain

    7. XM_011513422.2 → XP_011511724.1  fibroblast growth factor receptor 3 isoform X7

      UniProtKB/TrEMBL
      A0A7I2RW32
      Conserved Domains (7) summary
      cd05857
      Location:161 → 245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268 → 357
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:53 → 110
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:54 → 125
      IG; Immunoglobulin
      smart00410
      Location:260 → 356
      IG_like; Immunoglobulin like
      pfam07714
      Location:473 → 749
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:460 → 794
      PKc_like; Protein Kinases, catalytic domain

    8. XM_006713873.2 → XP_006713936.1  fibroblast growth factor receptor 3 isoform X9

      UniProtKB/TrEMBL
      A0A7I2RW32
      Conserved Domains (7) summary
      cd05857
      Location:161 → 245
      Ig2_FGFR; Second immunoglobulin (Ig)-like domain of fibroblast growth factor (FGF) receptor
      cd05858
      Location:268 → 357
      Ig3_FGFR-2; Third immunoglobulin (Ig)-like domain of fibroblast growth factor receptor 2 (FGFR2)
      smart00408
      Location:53 → 110
      IGc2; Immunoglobulin C-2 Type
      smart00409
      Location:54 → 125
      IG; Immunoglobulin
      smart00410
      Location:260 → 356
      IG_like; Immunoglobulin like
      pfam07714
      Location:472 → 748
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:459 → 793
      PKc_like; Protein Kinases, catalytic domain

    9. XM_047449820.1 → XP_047305776.1  fibroblast growth factor receptor 3 isoform X1

    10. XM_047449822.1 → XP_047305778.1  fibroblast growth factor receptor 3 isoform X8

      UniProtKB/TrEMBL
      X5D2G8

    11. XM_047449823.1 → XP_047305779.1  fibroblast growth factor receptor 3 isoform X9

    12. XM_047449824.1 → XP_047305780.1  fibroblast growth factor receptor 3 isoform X10

      UniProtKB/Swiss-Prot
      D3DVP9, D3DVQ0, P22607, Q14308, Q16294, Q16608, Q59FL9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      1791772..1807344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349261.1 → XP_054205236.1  fibroblast growth factor receptor 3 isoform X1

    2. XM_054349263.1 → XP_054205238.1  fibroblast growth factor receptor 3 isoform X3

    3. XM_054349262.1 → XP_054205237.1  fibroblast growth factor receptor 3 isoform X2

    4. XM_054349264.1 → XP_054205239.1  fibroblast growth factor receptor 3 isoform X4

    5. XM_054349265.1 → XP_054205240.1  fibroblast growth factor receptor 3 isoform X5

    6. XM_054349266.1 → XP_054205241.1  fibroblast growth factor receptor 3 isoform X6

    7. XM_054349267.1 → XP_054205242.1  fibroblast growth factor receptor 3 isoform X7

    8. XM_054349268.1 → XP_054205243.1  fibroblast growth factor receptor 3 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P22607.1 GenPept UniProtKB/Swiss-Prot:P22607

    Gene LinkOut

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