OR6C76 olfactory receptor family 6 subfamily C member 76 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR6C76provided by HGNC
Official Full Name: olfactory receptor family 6 subfamily C member 76provided by HGNC
Primary source: HGNC:HGNC:31305
See related: Ensembl:ENSG00000185821 AllianceGenome:HGNC:31305
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
Summary: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. [provided by RefSeq, Jul 2008]
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Genomic context

Location:: 12q13.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (55426254..55427192)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (55392802..55393761)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (55820038..55820976)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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

EBI GWAS Catalog

Description
Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

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General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables G protein-coupled receptor activity	IEA Inferred from Electronic Annotation more info
enables olfactory receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in detection of chemical stimulus involved in sensory perception of smell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: olfactory receptor 6C76

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_001005183.1 → NP_001005183.1 olfactory receptor 6C76 isoform 1

See identical proteins and their annotated locations for NP_001005183.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the allele encoded by the GRCh38 reference genome and encodes isoform (1).

Source sequence(s)

AC125816

Consensus CDS

CCDS31823.1

UniProtKB/Swiss-Prot

A6NM76

UniProtKB/TrEMBL

A0A126GW16

Related

ENSP00000328402.3, ENST00000328314.3

Conserved Domains (2) summary

pfam00001
Location:39 → 287

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:31 → 302

7tm_4; Olfactory receptor
NM_001412214.1 → NP_001399143.1 olfactory receptor 6C76 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (2) has a frameshifted C-terminus compared to isoform 1.

Source sequence(s)

CP068266