Gene Facts External Data Attribution

HGNC Symbol
GNAL (HGNC:4388) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
G protein subunit alpha L
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
13.57(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.21(Read more about gnomAD LOEUF score)
Cytoband
18p11.21
Genomic Coordinates
GRCh37/hg19: chr18:11689263-11885684 NCBI Ensembl UCSC
GRCh38/hg38: chr18:11689264-11885685 NCBI Ensembl UCSC
MANE Select Transcript
NM_182978.4 ENST00000334049.11 (Read more about MANE Select)
MANE Plus Clinical Transcript(s)
NM_001369387.1 ENST00000423027.8 (Read more about MANE Plus Clinical)
Function
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. G(olf) alpha mediates signal transduction within the olfactory neuroepithelium and the basal ganglia. May be involved in some aspect of visual transduction, and in mediating the effect of one or more hormones/neurotransmitters. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-32932
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000018.9) (NC_000018.10)