GNG13 G protein subunit gamma 13 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNG13provided by HGNC
Official Full Name: G protein subunit gamma 13provided by HGNC
Primary source: HGNC:HGNC:14131
See related: Ensembl:ENSG00000127588 MIM:607298; AllianceGenome:HGNC:14131
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HG3J; h2-35; G(gamma)13
Summary: Heterotrimeric G proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G protein-coupled receptors. GNG13 is a gamma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).[supplied by OMIM, Oct 2009]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (798041..800734, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (802865..805558, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (848041..850734, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High GNG13 expression is associated with poor survival in epithelial ovarian cancer and breast cancer.
Title: High GNG13 expression is associated with poor survival in epithelial ovarian cancer and breast cancer.
GNG13 Is a Potential Marker of the State of Health of Alzheimer's Disease Patients' Cerebellum.
Title: GNG13 Is a Potential Marker of the State of Health of Alzheimer's Disease Patients' Cerebellum.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association between common variation in genes encoding sweet taste signaling components and human sucrose perception.
Ggamma13 interacts with PDZ domain-containing proteins
Title: Ggamma13 interacts with PDZ domain-containing proteins.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G-protein beta-subunit binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-protein beta-subunit binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of taste	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in dendrite	IEA Inferred from Electronic Annotation more info
part_of heterotrimeric G-protein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13

Names: G gamma subunit, clone:h2-35; guanine nucleotide binding protein (G protein), gamma 13; guanine nucleotide binding protein 13, gamma; heterotrimeric guanine nucleotide-binding protein 3J

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_016541.3 → NP_057625.1 guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13

See identical proteins and their annotated locations for NP_057625.1

Status: VALIDATED

Source sequence(s)

AL031033, BM931126, DA111448

Consensus CDS

CCDS10427.1

UniProtKB/Swiss-Prot

B2R5C8, Q52LX0, Q9P2W3, Q9UJJ3

Related

ENSP00000248150.4, ENST00000248150.5

Conserved Domains (1) summary

cd00068
Location:6 → 62

GGL; G protein gamma subunit-like motifs, the alpha-helical G-gamma chain dimerizes with the G-beta propeller subunit as part of the heterotrimeric G-protein complex; involved in signal transduction via G-protein-coupled receptors