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    FGFR1OP2 FGFR1 oncogene partner 2 [ Homo sapiens (human) ]

    Gene ID: 26127, updated on 27-Nov-2024

    Summary

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    Official Symbol
    FGFR1OP2provided by HGNC
    Official Full Name
    FGFR1 oncogene partner 2provided by HGNC
    Primary source
    HGNC:HGNC:23098
    See related
    Ensembl:ENSG00000111790 MIM:608858; AllianceGenome:HGNC:23098
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WIT3.0; HSPC123-like
    Summary
    Predicted to enable identical protein binding activity. Predicted to be involved in response to wounding. Predicted to act upstream of or within wound healing. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 23.0), adrenal (RPKM 22.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See FGFR1OP2 in Genome Data Viewer
    Location:
    12p11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (26938470..26966648)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (26810479..26838658)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (27091403..27119581)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene inositol 1,4,5-trisphosphate receptor type 2 Neighboring gene enoyl-CoA hydratase domain containing 2 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4303 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4305 Neighboring gene Sharpr-MPRA regulatory region 14818 Neighboring gene MPRA-validated peak1624 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr12:27037949-27038123 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:27091219-27091728 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:27091729-27092237 Neighboring gene integrator complex subunit 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4307 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6131 Neighboring gene transmembrane 7 superfamily member 3 Neighboring gene mediator complex subunit 21

    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
    • 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. Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome. Grand EK, et al. Genes Chromosomes Cancer, 2004 May. PMID 15034873
    2. Phosphotyrosine profiling identifies the KG-1 cell line as a model for the study of FGFR1 fusions in acute myeloid leukemia. Gu TL, et al. Blood, 2006 Dec 15. PMID 16946300
    3. A genetic association study of single nucleotide polymorphisms in FGFR1OP2/wit3.0 and long-term atrophy of edentulous mandible. Suwanwela J, et al. PLoS One, 2011 Jan 19. PMID 21283824, Free PMC Article
    4. Association between FGFR1OP2/wit3.0 polymorphisms and residual ridge resorption of mandible in Korean population. Kim JH, et al. PLoS One, 2012. PMID 22880093, Free PMC Article
    5. Small cytoskeleton-associated molecule, fibroblast growth factor receptor 1 oncogene partner 2/wound inducible transcript-3.0 (FGFR1OP2/wit3.0), facilitates fibroblast-driven wound closure. Lin A, et al. Am J Pathol, 2010 Jan. PMID 19959814, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The patient with minor allele of ss518063493 may be associated with excessive atrophy of edentulous mandible whereas the patients with that of rs840869 are not associated in Korean population.
      Title: Association between FGFR1OP2/wit3.0 polymorphisms and residual ridge resorption of mandible in Korean population.
    2. patients with the minor allele of rs840869 or rs859024 of FGFR1OP2 were associated with excessive atrophy of edentulous mandible
      Title: A genetic association study of single nucleotide polymorphisms in FGFR1OP2/wit3.0 and long-term atrophy of edentulous mandible.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
    4. FGFR1OP2/wit3.0 may regulate cell motility and stimulate wound closure.
      Title: Small cytoskeleton-associated molecule, fibroblast growth factor receptor 1 oncogene partner 2/wound inducible transcript-3.0 (FGFR1OP2/wit3.0), facilitates fibroblast-driven wound closure.
    5. FGFR1OP2 is a new FGFR1 fusion gene involving a chromosomes 12X8 translocation in a 8p11 myeloproliferative syndrome patient.
      Title: Identification of a novel gene, FGFR1OP2, fused to FGFR1 in 8p11 myeloproliferative syndrome.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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

    Clone Names

    • FLJ37569, DKFZp564O1863, DKFZp586C1423

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in response to wounding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in wound healing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    FGFR1 oncogene partner 2
    Names
    fibroblast growth factor receptor 1 oncogene partner 2
    wound inducible transcript 3.0

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001171887.2 → NP_001165358.1  FGFR1 oncogene partner 2 isoform 2

      See identical proteins and their annotated locations for NP_001165358.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC024896, BI829470, DA388639
      Consensus CDS
      CCDS53767.1
      UniProtKB/Swiss-Prot
      Q9NVK5
      Related
      ENSP00000323763.5, ENST00000327214.5
      Conserved Domains (1) summary
      pfam05769
      Location:2 → 183
      SIKE; SIKE family

    2. NM_001171888.2 → NP_001165359.1  FGFR1 oncogene partner 2 isoform 3

      See identical proteins and their annotated locations for NP_001165359.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and 3' coding region, compared to variant 1. It encodes isoform 3, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC024896, AK001534, BC032143
      Consensus CDS
      CCDS53766.1
      UniProtKB/Swiss-Prot
      Q9NVK5
      Related
      ENSP00000437556.1, ENST00000546072.5
      Conserved Domains (1) summary
      pfam05769
      Location:2 → 133
      DUF837; Protein of unknown function (DUF837)

    3. NM_015633.3 → NP_056448.1  FGFR1 oncogene partner 2 isoform 1

      See identical proteins and their annotated locations for NP_056448.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC024896, AK001534
      Consensus CDS
      CCDS8709.1
      UniProtKB/Swiss-Prot
      Q6R955, Q8N5L7, Q9NVK5, Q9P034, Q9UFK8
      Related
      ENSP00000229395.3, ENST00000229395.8
      Conserved Domains (1) summary
      pfam05769
      Location:2 → 221
      SIKE; SIKE family

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      26938470..26966648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      26810479..26838658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVK5.1 GenPept UniProtKB/Swiss-Prot:Q9NVK5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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