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FBN2 fibrillin 2 [ Homo sapiens (human) ]

Gene ID: 2201, updated on 26-May-2016
Official Symbol
FBN2provided by HGNC
Official Full Name
fibrillin 2provided by HGNC
Primary source
HGNC:HGNC:3604
See related
Ensembl:ENSG00000138829 HPRD:00416; 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
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (128257909..128538042, 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 LOC105379168 Neighboring gene uncharacterized LOC105379167 Neighboring gene solute carrier family 27 member 6

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...
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 
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 (9) summary
    cd11304
    Location:28262873
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00179
    Location:11151149
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:658687
    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:17471790
    TB; TB domain
    pfam07645
    Location:318358
    EGF_CA; Calcium-binding EGF domain
    pfam12662
    Location:790813
    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:18471888
    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 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    128257909..128538042 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

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