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    FBN3 fibrillin 3 [ Homo sapiens (human) ]

    Gene ID: 84467, updated on 10-Dec-2024

    Summary

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    Official Symbol
    FBN3provided by HGNC
    Official Full Name
    fibrillin 3provided by HGNC
    Primary source
    HGNC:HGNC:18794
    See related
    Ensembl:ENSG00000142449 MIM:608529; AllianceGenome:HGNC:18794
    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
    Summary
    This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See FBN3 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    68
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (8065402..8149592, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (8066415..8150695, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (8130286..8214476, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372266 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8094053-8095028 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10010 Neighboring gene C-C motif chemokine ligand 25 Neighboring gene MPRA-validated peak3327 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8175802-8176302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8180417-8180917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8183744-8184561 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8185348-8185938 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8185939-8186529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8193691-8194192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8206295-8206796 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8208101-8208645 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8211691-8212662 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8212663-8213633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10011 Neighboring gene Sharpr-MPRA regulatory region 3488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8226075-8226576 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:8228221-8229026 Neighboring gene ALG11, alpha-1,2-mannosyltransferase pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13907 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8260104-8260957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8260958-8261810 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8268618-8269588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10013 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:8280063-8280564 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:8285012-8285518 Neighboring gene ceramide synthase 4 Neighboring gene uncharacterized LOC107985282

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic Insights into Skeletal Malocclusion: The Role of the FBN3 rs7351083 SNP in the Romanian Population.
      Title: Genetic Insights into Skeletal Malocclusion: The Role of the FBN3 rs7351083 SNP in the Romanian Population.
    2. Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified.
      Title: Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified.
    3. an association study showed a potential association of the D19S884 marker with PCOS in Chinese Han women and the meta-analysis identified that the A8 allele may increase susceptibility to PCOS
      Title: Microsatellite polymorphism in the fibrillin 3 gene and susceptibility to PCOS: a case-control study and meta-analysis.
    4. The FBN3 risk allele may be associated with changes in basal glucose homeostasis in PCOS.
      Title: Association of fibrillin-3 and transcription factor-7-like 2 gene variants with metabolic phenotypes in PCOS.
    5. Data show that TGF-beta pathways operate during ovarian fetal development, and fibrillin 3 is highly expressed at a critical stage early in developing human and bovine fetal ovaries.
      Title: Linkage of regulators of TGF-β activity in the fetal ovary to polycystic ovary syndrome.
    6. fibrillin-3, compared to the other fibrillins, fulfills both overlapping and distinct functions in human development
      Title: Fibrillin-3 expression in human development.
    7. A variant in the fibrillin-3 gene is associated with TGF-beta and inhibin B levels in women with polycystic ovary syndrome.
      Title: A variant in the fibrillin-3 gene is associated with TGF-β and inhibin B levels in women with polycystic ovary syndrome.
    8. Loss of fibrillin-3 during folliculogenesis may be an important factor in polycystic ovary syndrome pathogenesis.
      Title: Fibrillins in adult human ovary and polycystic ovary syndrome: is fibrillin-3 affected in PCOS?
    9. Single nucleotide polymorphisms in FBN3 occur and may be a candidate gene for polycystic ovary syndrome.
      Title: Family-based analysis of candidate genes for polycystic ovary syndrome.
    10. Data show that fibrillin 3 appears to have little involvement in PCOS but cannot rule out that other markers in the region of chromosome 19p13.2 are associated with PCOS or that FBN3 expression occurs in other organs that may influence the PCOS phenotype.
      Title: Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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

    • KIAA1776

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables extracellular matrix structural constituent IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microfibril IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    fibrillin-3

    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.

    mRNA and Protein(s)

    1. NM_001321431.2 → NP_001308360.1  fibrillin-3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC008946, AC022146, AY165864, BC153882
      Consensus CDS
      CCDS12196.1
      UniProtKB/Swiss-Prot
      Q75N90, Q75N91, Q75N92, Q75N93, Q86SJ5, Q96JP8
      UniProtKB/TrEMBL
      A8KAY2
      Related
      ENSP00000472324.1, ENST00000601739.5
      Conserved Domains (9) summary
      smart00179
      Location:1563 → 1599
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:2485 → 2519
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:1506 → 1541
      TB; TB domain
      pfam07645
      Location:489 → 529
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:1909 → 1932
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:1284 → 1319
      EGF_3; EGF domain
      pfam14670
      Location:1159 → 1194
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:2403 → 2443
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl21504
      Location:2363 → 2403
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    2. NM_032447.5 → NP_115823.3  fibrillin-3 precursor

      See identical proteins and their annotated locations for NP_115823.3

      Status: REVIEWED

      Source sequence(s)
      AC008946, AC022146, AY165863, BC153882
      Consensus CDS
      CCDS12196.1
      UniProtKB/Swiss-Prot
      Q75N90, Q75N91, Q75N92, Q75N93, Q86SJ5, Q96JP8
      UniProtKB/TrEMBL
      A8KAY2
      Related
      ENSP00000470498.1, ENST00000600128.6
      Conserved Domains (9) summary
      smart00179
      Location:1563 → 1599
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:2485 → 2519
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:1506 → 1541
      TB; TB domain
      pfam07645
      Location:489 → 529
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:1909 → 1932
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:1284 → 1319
      EGF_3; EGF domain
      pfam14670
      Location:1159 → 1194
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:2403 → 2443
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl21504
      Location:2363 → 2403
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      8065402..8149592 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017027372.2 → XP_016882861.1  fibrillin-3 isoform X1

      UniProtKB/Swiss-Prot
      Q75N90, Q75N91, Q75N92, Q75N93, Q86SJ5, Q96JP8
      UniProtKB/TrEMBL
      A8KAY2
      Related
      ENSP00000270509.2, ENST00000270509.6
      Conserved Domains (9) summary
      smart00179
      Location:1563 → 1599
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:2485 → 2519
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:1506 → 1541
      TB; TB domain
      pfam07645
      Location:489 → 529
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:1909 → 1932
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:1284 → 1319
      EGF_3; EGF domain
      pfam14670
      Location:1159 → 1194
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:2403 → 2443
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl21504
      Location:2363 → 2403
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    2. XM_017027374.3 → XP_016882863.1  fibrillin-3 isoform X3

      UniProtKB/TrEMBL
      A8KAY2

    3. XM_017027375.3 → XP_016882864.1  fibrillin-3 isoform X4

      UniProtKB/TrEMBL
      A8KAY2

    4. XM_017027376.2 → XP_016882865.1  fibrillin-3 isoform X5

      UniProtKB/TrEMBL
      A8KAY2

    5. XM_017027373.2 → XP_016882862.1  fibrillin-3 isoform X2

      UniProtKB/TrEMBL
      A8KAY2

    6. XM_017027379.2 → XP_016882868.1  fibrillin-3 isoform X8

      UniProtKB/TrEMBL
      A0A494C0D8, A8KAY2
      Related
      ENSP00000498507.1, ENST00000651877.1

    7. XM_017027377.3 → XP_016882866.1  fibrillin-3 isoform X6

    8. XM_017027378.3 → XP_016882867.1  fibrillin-3 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      8066415..8150695 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322351.1 → XP_054178326.1  fibrillin-3 isoform X1

      UniProtKB/TrEMBL
      A8KAY2

    2. XM_054322353.1 → XP_054178328.1  fibrillin-3 isoform X3

      UniProtKB/TrEMBL
      A8KAY2

    3. XM_054322354.1 → XP_054178329.1  fibrillin-3 isoform X4

      UniProtKB/TrEMBL
      A8KAY2

    4. XM_054322355.1 → XP_054178330.1  fibrillin-3 isoform X5

      UniProtKB/TrEMBL
      A8KAY2

    5. XM_054322352.1 → XP_054178327.1  fibrillin-3 isoform X2

      UniProtKB/TrEMBL
      A8KAY2

    6. XM_054322358.1 → XP_054178333.1  fibrillin-3 isoform X8

      UniProtKB/TrEMBL
      A8KAY2

    7. XM_054322356.1 → XP_054178331.1  fibrillin-3 isoform X6

    8. XM_054322357.1 → XP_054178332.1  fibrillin-3 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q75N90.3 GenPept UniProtKB/Swiss-Prot:Q75N90

    Gene LinkOut

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

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