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FBN2 fibrillin 2 [ Homo sapiens (human) ]

Gene ID: 2201, updated on 5-Feb-2023

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
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Genomic context

See FBN2 in Genome Data Viewer
Location:
5q23.3
Exon count:
65
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (128257909..128538245, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (128776747..129057063, complement)
105.20220307 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 solute carrier family 12 member 2 Neighboring gene POGLUT2 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 657 Neighboring gene uncharacterized LOC105379167

Genomic regions, transcripts, and products

Expression

  • 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

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

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

Homology

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
PubMed 
enables extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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 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 sequestering of TGFbeta in extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
 

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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)