OR2T12 olfactory receptor family 2 subfamily T member 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR2T12provided by HGNC
Official Full Name: olfactory receptor family 2 subfamily T member 12provided by HGNC
Primary source: HGNC:HGNC:19592
See related: Ensembl:ENSG00000177201 AllianceGenome:HGNC:19592
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
Also known as: OR1-57
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: all
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Genomic context

Location:: 1q44

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (248290139..248303424, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (247716221..247729507, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (248453441..248466726, complement)

Chromosome 1 - NC_000001.11 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?

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

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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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	IBA Inferred from Biological aspect of Ancestor more info

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

General protein information

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Preferred Names: olfactory receptor 2T12

Names: novel 7 transmembrane receptor (rhodopsin family) protein; olfactory receptor OR1-57

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_001004692.2 → NP_001004692.1 olfactory receptor 2T12 isoform 1

See identical proteins and their annotated locations for NP_001004692.1

Status: VALIDATED

Description

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

Source sequence(s)

AL450303

Consensus CDS

CCDS31110.1

UniProtKB/Swiss-Prot

Q8NG77

UniProtKB/TrEMBL

A0A126GWP8

Related

ENSP00000493000.1, ENST00000641276.1

Conserved Domains (1) summary

cd15421
Location:23 → 299

7tmA_OR2T-like; olfactory receptor subfamily 2T and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001412178.1 → NP_001399107.1 olfactory receptor 2T12 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses the same exon combination as variant 1 but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. The encoded isoform (2) has a shorter N-terminus because it uses a downstream start codon, compared to isoform 1.

Source sequence(s)

CP068277