OR12D3 olfactory receptor family 12 subfamily D member 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR12D3provided by HGNC
Official Full Name: olfactory receptor family 12 subfamily D member 3provided by HGNC
Primary source: HGNC:HGNC:13963
See related: Ensembl:ENSG00000112462 AllianceGenome:HGNC:13963
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: hs6M1-27
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]
Orthologs: mouse all
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Genomic context

Location:: 6p22.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (29373423..29375291, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (29248211..29250079, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (29341200..29343068, complement)

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 and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Host determinants of HIV-1 control in African Americans.
Observational study of gene-disease association. (HuGE Navigator)
Title: Refining the association of MHC with multiple sclerosis in African Americans.

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
Common variation contributes to the genetic architecture of social communication traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of retinopathy in individuals without diabetes. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:484052

NoName (e-PCR)
- UniSTS:480499

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 12D3

Names: olfactory receptor OR6-27

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_030959.3 → NP_112221.1 olfactory receptor 12D3

See identical proteins and their annotated locations for NP_112221.1

Status: PROVISIONAL

Source sequence(s)

AL662781

Consensus CDS

CCDS4658.1

UniProtKB/Swiss-Prot

A2BDZ1, Q5SQI8, Q6IF23, Q9UGF7

UniProtKB/TrEMBL

A0A0G2JL33, A0A1U9X884, A8MXE9, D2XT27

Related

ENSP00000380023.3, ENST00000396806.3

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