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    FBN2 fibrillin 2 [ Homo sapiens (human) ]

    Gene ID: 2201, updated on 12-Mar-2017
    Official Symbol
    FBN2provided by HGNC
    Official Full Name
    fibrillin 2provided by HGNC
    Primary source
    HGNC:HGNC:3604
    See related
    Ensembl:ENSG00000138829 MIM:612570; Vega:OTTHUMG00000163082
    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
    CCA; DA9; EOMD
    Summary
    The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    5q23.3
    Exon count:
    65
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (128257908..128538358, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (127593601..127873735, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1184 Neighboring gene solute carrier family 12 member 2 Neighboring gene KDEL motif containing 1 pseudogene 1 Neighboring gene uncharacterized LOC105379167 Neighboring gene uncharacterized LOC105379168

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Congenital contractural arachnodactyly Compare labs
    Macular degeneration, early-onset
    MedGen: CN221671 OMIM: 616118 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
    NHGRI GWA Catalog
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    NHGRI GWA Catalog
    Common body mass index-associated variants confer risk of extreme obesity.
    NHGRI GWA Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    NHGRI GWA Catalog
    Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat is identified to have a physical interaction with fibrillin 2 (FBN2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    • Elastic fibre formation, organism-specific biosystem (from REACTOME)
      Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • Hypothesized Pathways in Pathogenesis of Cardiovascular Disease, organism-specific biosystem (from WikiPathways)
      Hypothesized Pathways in Pathogenesis of Cardiovascular Disease, organism-specific biosystemThe pathways hypothesized to be involved in cardiovascular diseases begin with LTBPs and Fibrillins activating a TGFBR complex. The complex can begin the canonical TGFB pathway involving SMAD protei...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix constituent conferring elasticity IC
    Inferred by Curator
    more info
    PubMed 
    extracellular matrix structural constituent IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    bone trabecula formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    camera-type eye development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    embryonic eye morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    positive regulation of bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sequestering of TGFbeta in extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    microfibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microfibril TAS
    Traceable Author Statement
    more info
    PubMed 
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    fibrillin-2
    Names
    fibrillin 5

    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_008750.1 RefSeqGene

      Range
      5001..285135
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001999.3NP_001990.2  fibrillin-2 precursor

      See identical proteins and their annotated locations for NP_001990.2

      Status: REVIEWED

      Source sequence(s)
      AC025169, AC113387, BC040623, BF368029, BG009811, BX343658, CD243435, CN300888, CN300893, CN300894, CN300904, CN481490, U03272
      Consensus CDS
      CCDS34222.1
      UniProtKB/Swiss-Prot
      P35556
      Related
      ENSP00000262464, ENST00000262464
      Conserved Domains (10) summary
      cd11304
      Location:28262873
      Cadherin_repeat; Cadherin tandem repeat domain
      smart00179
      Location:658698
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:810845
      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:17491786
      TB; TB domain
      pfam06247
      Location:12931446
      Plasmod_Pvs28; Plasmodium ookinete surface protein Pvs28
      pfam07645
      Location:318358
      EGF_CA; Calcium-binding EGF domain
      pfam12662
      Location:16721695
      cEGF; Complement Clr-like EGF-like
      pfam12947
      Location:14121447
      EGF_3; EGF domain
      pfam14670
      Location:12461281
      FXa_inhibition; Coagulation Factor Xa inhibitory site
      cl00057
      Location:24892529
      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 ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

      Range
      128257908..128538358 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009228.1XP_016864717.1  fibrillin-2 isoform X1

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      127026171..127306337 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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