ITGB3
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ITGB3 (HGNC:6156) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
integrin subunit beta 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
GP3A
Alias symbols
CD61, GPIIIa
%HI
35.78(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.69(Read more about gnomAD LOEUF score)
Cytoband
17q21.32
Genomic Coordinates
GRCh37/hg19: chr17:45331193-45391109 NCBI Ensembl UCSC
GRCh38/hg38: chr17:47253827-47313743 NCBI Ensembl UCSC
MANE Select Transcript
NM_000212.3 ENST00000559488.7 (Read more about MANE Select)
Function
Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIb/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIb/beta-3 and alpha- V/beta-3 recognize the sequence R-G-D in a wide array of ligands. Integrin alpha-IIb/beta-3 recognizes the ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-4116
ClinGen Curation ID:
CCID:007336
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/27/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
This score is based on the autism phenotype that has been proposed for this gene. Homozygous mutations in ITGB3 are associated with Glanzmann thrombasthenia (MIM:273800). PMID:22495309: O'Roak et al. (2012) found a de novo missense change in ITGB3 in a proband with autism. PMID:16724005: Weiss et al. (2006) showed an association of genetic variants in ITGB3 with with whole-blood serotonin level and autism susceptibility.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)