OR12D2 olfactory receptor family 12 subfamily D member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR12D2provided by HGNC
Official Full Name: olfactory receptor family 12 subfamily D member 2provided by HGNC
Primary source: HGNC:HGNC:8178
See related: Ensembl:ENSG00000280236 AllianceGenome:HGNC:8178
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HS6M1-20; DJ994E9.8
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. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Orthologs: all
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Genomic context

Location:: 6p22.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (29395631..29398008)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (29270421..29272655)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (29363408..29365785)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.

Submit: New GeneRIF Correction

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
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481228

NoName (e-PCR)
- UniSTS:485585

Gene Ontology Provided by GOA

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

Component	Evidence Code	Pubs
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: olfactory receptor 12D2

Names: olfactory receptor OR6-28

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.

Genomic

NG_053020.1 RefSeqGene

Range

3993..6370

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_013936.4 → NP_039224.2 olfactory receptor 12D2

See identical proteins and their annotated locations for NP_039224.2

Status: REVIEWED

Source sequence(s)

AL645927

UniProtKB/Swiss-Prot

B0S862, P58182, Q5SUN9, Q6IET9

UniProtKB/TrEMBL

A0A126GV87, A0A1U9X889

Related

ENSP00000493463.1, ENST00000642051.1

Conserved Domains (1) summary

cd15915
Location:23 → 293

7tmA_OR12D-like; olfactory receptor subfamily 12D and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors