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

Gene ID: 390326, updated on 1-Oct-2022

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. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
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Genomic context

See OR6C76 in Genome Data Viewer
Location:
12q13.2
Exon count:
1
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55426254..55427192)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55392802..55393739)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (55820038..55820976)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 6 subfamily C member 65 Neighboring gene polyhomeotic homolog 1 pseudogene 1 Neighboring gene uncharacterized LOC124902940 Neighboring gene olfactory receptor family 6 subfamily C member 2 Neighboring gene olfactory receptor family 6 subfamily C member 70

Genomic regions, transcripts, and products

Phenotypes

EBI GWAS Catalog

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

General gene information

Homology

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

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)

  1. NM_001005183.1NP_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:39287
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:31302
    7tm_4; Olfactory receptor
  2. NM_001412214.1NP_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

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    55426254..55427192
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    55392802..55393739
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)