GNAL |
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)