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OR6C74 olfactory receptor family 6 subfamily C member 74 [ Homo sapiens (human) ]

Gene ID: 254783, updated on 27-Nov-2024

Summary

Official Symbol
OR6C74provided by HGNC
Official Full Name
olfactory receptor family 6 subfamily C member 74provided by HGNC
Primary source
HGNC:HGNC:31303
See related
Ensembl:ENSG00000197706 AllianceGenome:HGNC:31303
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]
Annotation information
Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See OR6C74 in Genome Data Viewer
Location:
12q13.2
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (55244609..55256625)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55211169..55223187)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (55638393..55650409)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 10 subfamily U member 1 pseudogene Neighboring gene olfactory receptor family 10 subfamily A member 7 Neighboring gene olfactory receptor family 6 subfamily C member 69 pseudogene Neighboring gene olfactory receptor family 6 subfamily C member 72 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

EBI GWAS Catalog

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

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_001005490.2NP_001005490.1  olfactory receptor 6C74

    See identical proteins and their annotated locations for NP_001005490.1

    Status: VALIDATED

    Source sequence(s)
    AC122684
    Consensus CDS
    CCDS31816.1
    UniProtKB/Swiss-Prot
    A6NCV1, B9EIN9
    UniProtKB/TrEMBL
    A0A126GW13
    Related
    ENSP00000368987.2, ENST00000343399.5
    Conserved Domains (2) summary
    pfam00001
    Location:39288
    7tm_1; 7 transmembrane receptor (rhodopsin family)
    cl21561
    Location:31301
    7tm_4; Olfactory receptor

RNA

  1. NR_190074.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the non-coding allele of this gene on T2T-CHM13 genome assembly, which has a SNP (rs4522268) at NC_060936.1:55214032) that introduces a premature stop codon in the ORF. The resulting translation (61aa) has only one of the seven transmembrane domains typically seen in olfactory receptors.
    Source sequence(s)
    CP068266

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    55244609..55256625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    55211169..55223187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)