OR52B4 olfactory receptor family 52 subfamily B member 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR52B4provided by HGNC
Official Full Name: olfactory receptor family 52 subfamily B member 4provided by HGNC
Primary source: HGNC:HGNC:15209
See related: Ensembl:ENSG00000221996 AllianceGenome:HGNC:15209
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: OR11-3
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:: 11p15.4

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (4367263..4368386, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (4432365..4433487, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (4388493..4389616, complement)

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?

The association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration. OR52B4 single nucleotide polynorphism rs4910623 allele frequency in age-related macular degeneration patients.
Title: GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration.
Observational study of gene-disease association. (HuGE Navigator)
Title: An approach based on a genome-wide association study reveals candidate loci for narcolepsy.

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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)

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 cognition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in detection of chemical stimulus involved in sensory perception of smell	IEA Inferred from Electronic Annotation 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 52B4

Names: olfactory receptor OR11-3

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_001005161.3 → NP_001005161.2 olfactory receptor 52B4

See identical proteins and their annotated locations for NP_001005161.2

Status: VALIDATED

Description

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

Source sequence(s)

AC009758

UniProtKB/Swiss-Prot

A6NP68, Q6IFK6, Q8NGK2

UniProtKB/TrEMBL

A0A126GW82, B2RU22

Related

ENSP00000485530.1, ENST00000624801.3

Conserved Domains (2) summary

pfam00001
Location:43 → 294

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:33 → 312

7tm_4; Olfactory receptor

RNA

NR_178069.1 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 N-terminus results in a premature stop codon.

Source sequence(s)

CP068267