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    FBN2 fibrillin 2 [ Homo sapiens (human) ]

    Gene ID: 2201, updated on 19-Sep-2024

    Summary

    Official Symbol
    FBN2provided by HGNC
    Official Full Name
    fibrillin 2provided by HGNC
    Primary source
    HGNC:HGNC:3604
    See related
    Ensembl:ENSG00000138829 MIM:612570; AllianceGenome:HGNC:3604
    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]
    Expression
    Biased expression in placenta (RPKM 46.2), testis (RPKM 4.0) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FBN2 in Genome Data Viewer
    Location:
    5q23.3
    Exon count:
    65
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (128257909..128538245, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (128776747..129057063, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (127593601..127873938, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 192 Neighboring gene SLC12A2 divergent transcript Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:127344859-127345557 Neighboring gene MPRA-validated peak5458 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23037 Neighboring gene POGLUT2 pseudogene 1 Neighboring gene solute carrier family 12 member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23038 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16296 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:127680731-127681930 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:127772173-127773372 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:127871608-127872538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:127874264-127874764 Neighboring gene Sharpr-MPRA regulatory region 657 Neighboring gene uncharacterized LOC105379167 Neighboring gene uncharacterized LOC105379168 Neighboring gene NANOG hESC enhancer GRCh37_chr5:128006634-128007158 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16297 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:128205611-128206165 Neighboring gene MPRA-validated peak5459 silencer

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Congenital contractural arachnodactyly Compare labs
    Macular degeneration, early-onset
    MedGen: C4015286 OMIM: 616118 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2024-02-28)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2024-02-28)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables extracellular matrix constituent conferring elasticity IC
    Inferred by Curator
    more info
    PubMed 
    enables extracellular matrix structural constituent IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables hormone activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in bone trabecula formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in camera-type eye development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in embryonic eye morphogenesis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in embryonic limb morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glucose homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in placenta development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of osteoblast differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of trophoblast cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in sequestering of TGFbeta in extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microfibril IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microfibril TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    fibrillin-2
    Names
    fibrillin 5

    NCBI Reference Sequences (RefSeq)

    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_008750.2 RefSeqGene

      Range
      5000..285336
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001999.4NP_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
      B4DU01, P35556, Q59ES6
      Related
      ENSP00000262464.4, ENST00000262464.9
      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: 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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      128257909..128538245 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009228.3XP_016864717.1  fibrillin-2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      128776747..129057063 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352054.1XP_054208029.1  fibrillin-2 isoform X1