OR51I2 olfactory receptor family 51 subfamily I member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR51I2provided by HGNC
Official Full Name: olfactory receptor family 51 subfamily I member 2provided by HGNC
Primary source: HGNC:HGNC:15201
See related: Ensembl:ENSG00000187918 AllianceGenome:HGNC:15201
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: OR11-38
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]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Orthologs: mouse all
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Genomic context

Location:: 11p15.4

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5449323..5456518)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5508562..5515782)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5470553..5477748)

Chromosome 11 - NC_000011.10 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

EBI GWAS Catalog

Description
Genetic determinants of haemolysis in sickle cell anaemia. 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

ECD14458 (e-PCR)
- UniSTS:295479

ECD08340 (e-PCR)
- UniSTS:289388

OR51I2__5866.2 (e-PCR)
- UniSTS:468100

REN98253 (e-PCR)
- UniSTS:423050

REN98254 (e-PCR)
- UniSTS:423051

REN98255 (e-PCR)
- UniSTS:423052

REN98256 (e-PCR)
- UniSTS:423053

REN98257 (e-PCR)
- UniSTS:423054

ECD08375 (e-PCR)
- UniSTS:289423

REN98258 (e-PCR)
- UniSTS:423055

REN98259 (e-PCR)
- UniSTS:423056

REN98260 (e-PCR)
- UniSTS:423057

REN98261 (e-PCR)
- UniSTS:423058

REN98262 (e-PCR)
- UniSTS:423059

REN98263 (e-PCR)
- UniSTS:423060

REN98264 (e-PCR)
- UniSTS:423061

REN98265 (e-PCR)
- UniSTS:423062

ECD12237 (e-PCR)
- UniSTS:293270

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
enables olfactory receptor activity	NAS Non-traceable Author Statement more info	PubMed

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	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of smell	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
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 51I2

Names: HOR5'Beta12; odorant receptor HOR5'beta12; olfactory receptor OR11-38

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_001004754.3 → NP_001004754.1 olfactory receptor 51I2

See identical proteins and their annotated locations for NP_001004754.1

Status: VALIDATED

Description

Transcript Variant: This variant (1, coding) represents the protein-coding allele encoded by the GRCh38 reference genome.

Source sequence(s)

AC087380

Consensus CDS

CCDS31383.1

UniProtKB/Swiss-Prot

B9EIL6, Q6IF81, Q9H344

UniProtKB/TrEMBL

A0A126GVE9

Related

ENSP00000493016.1, ENST00000641930.1

Conserved Domains (2) summary

pfam00001
Location:41 → 292

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:31 → 307

7tm_4; Olfactory receptor

RNA

NR_178068.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (1, non-coding) uses the same exon combination as variant 1, coding, but represents the allele encoded by the T2T-CHM13v2.0 genome assembly. This variant is represented as non-coding because a frameshift in the C-terminus results in a premature stop codon.

Source sequence(s)

CP068267