OR51B6 olfactory receptor family 51 subfamily B member 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR51B6provided by HGNC
Official Full Name: olfactory receptor family 51 subfamily B member 6provided by HGNC
Primary source: HGNC:HGNC:19600
See related: Ensembl:ENSG00000176239 AllianceGenome:HGNC:19600
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: HOR5'Beta6
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:: 11p15.4

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (5351508..5352446)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (5410842..5411780)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (5372738..5373676)

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?

Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.

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
Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster. 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

ECD04886 (e-PCR)
- UniSTS:285956

REN97878 (e-PCR)
- UniSTS:422675

REN97879 (e-PCR)
- UniSTS:422676

REN97880 (e-PCR)
- UniSTS:422677

REN97881 (e-PCR)
- UniSTS:422678

REN97882 (e-PCR)
- UniSTS:422679

REN97883 (e-PCR)
- UniSTS:422680

REN97884 (e-PCR)
- UniSTS:422681

REN97885 (e-PCR)
- UniSTS:422682

REN97886 (e-PCR)
- UniSTS:422683

REN97887 (e-PCR)
- UniSTS:422684

REN97888 (e-PCR)
- UniSTS:422685

REN97889 (e-PCR)
- UniSTS:422686

REN97890 (e-PCR)
- UniSTS:422687

REN97891 (e-PCR)
- UniSTS:422688

REN97892 (e-PCR)
- UniSTS:422689

REN97893 (e-PCR)
- UniSTS:422690

ECD04925 (e-PCR)
- UniSTS:285995

ECD15070 (e-PCR)
- UniSTS:296087

ECD05313 (e-PCR)
- UniSTS:286379

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 51B6

Names: odorant receptor HOR5'beta6; olfactory receptor 51B5

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_001004750.1 → NP_001004750.1 olfactory receptor 51B6

See identical proteins and their annotated locations for NP_001004750.1

Status: PROVISIONAL

Source sequence(s)

AC104389

Consensus CDS

CCDS31379.1

UniProtKB/Swiss-Prot

Q9H340

UniProtKB/TrEMBL

A0A126GWC2

Related

ENSP00000369568.1, ENST00000380219.1

Conserved Domains (2) summary

pfam00001
Location:39 → 290

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:31 → 306

7tm_4; Olfactory receptor