OR2H1 olfactory receptor family 2 subfamily H member 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: OR2H1provided by HGNC
Official Full Name: olfactory receptor family 2 subfamily H member 1provided by HGNC
Primary source: HGNC:HGNC:8252
See related: Ensembl:ENSG00000204688 AllianceGenome:HGNC:8252
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: OR2H6; OR2H8; OR6-2; 6M1-16; HS6M1-16; dJ994E9.4; OLFR42A-9004-14; OLFR42A-9004.14/9026.2
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]
Expression: Restricted expression toward testis (RPKM 2.9) See more
Orthologs: all
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Genomic context

Location:: 6p22.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (29457155..29464328)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (29331813..29338986)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (29424932..29432105)

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

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 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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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 2H1

Names: olfactory receptor 2H6; olfactory receptor 2H8; olfactory receptor 6-2; olfactory receptor OR6-32; olfactory receptor, family 2, subfamily H, member 6; olfactory receptor, family 2, subfamily H, member 8

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_001318014.2 → NP_001304943.1 olfactory receptor 2H1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AL645927, BC036097, BC048991, DB035138, DB457588

Consensus CDS

CCDS4660.1

UniProtKB/Swiss-Prot

B0S7T4, O43629, O43661, O43662, Q5SUN6, Q9GZK4, Q9GZK9

UniProtKB/TrEMBL

A0A024RCM6, A0A1U9X848

Conserved Domains (1) summary

cd15947
Location:23 → 292

7tmA_OR2B-like; olfactory receptor subfamily 2B and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_001318022.2 → NP_001304951.1 olfactory receptor 2H1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site and an alternate exon in the 5' UTR compared to variant 1. Variants 1,2, and 3 encode the same protein.

Source sequence(s)

AL645927, BC036097, BC048991, DB457588, HY005013

Consensus CDS

CCDS4660.1

UniProtKB/Swiss-Prot

B0S7T4, O43629, O43661, O43662, Q5SUN6, Q9GZK4, Q9GZK9

UniProtKB/TrEMBL

A0A024RCM6, A0A1U9X848

Conserved Domains (1) summary

cd15947
Location:23 → 292

7tmA_OR2B-like; olfactory receptor subfamily 2B and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors
NM_030883.5 → NP_112145.1 olfactory receptor 2H1

See identical proteins and their annotated locations for NP_112145.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.

Source sequence(s)

AL645927, BC036097, BC048991, DB053988, DB457588

Consensus CDS

CCDS4660.1

UniProtKB/Swiss-Prot

B0S7T4, O43629, O43661, O43662, Q5SUN6, Q9GZK4, Q9GZK9

UniProtKB/TrEMBL

A0A024RCM6, A0A1U9X848

Related

ENSP00000366337.1, ENST00000377133.6

Conserved Domains (1) summary

cd15947
Location:23 → 292

7tmA_OR2B-like; olfactory receptor subfamily 2B and related proteins, member of the class A family of seven-transmembrane G protein-coupled receptors