GNAI3
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GNAI3 (HGNC:4387) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
G protein subunit alpha i3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
87U6
%HI
5.51(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.17(Read more about gnomAD pLI score)
LOEUF
1.11(Read more about gnomAD LOEUF score)
Cytoband
1p13.3
Genomic Coordinates
GRCh37/hg19: chr1:110091237-110142817 NCBI Ensembl UCSC
GRCh38/hg38: chr1:109548615-109600195 NCBI Ensembl UCSC
MANE Select Transcript
NM_006496.4 ENST00000369851.7 (Read more about MANE Select)
Function
Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-18657
ClinGen Curation ID:
CCID:007225
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:
07/18/2013

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Heterozygous missense mutations of GNAI3 are associated with autosomal dominant auriculocondylar syndrome 1 (Rieder MJ et al. 2012, PMID: 22560091). At the time of this review, there is no evidence that haploinsufficiency of this gene is associated with an abnormal phenotype. Evidence suggests that gain of function mutations in GNAI3 may be responsible for the phenotype (PMID: 22560091).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence of triplosensitivity found at the time of this review.

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)