OR11H2

olfactory receptor family 11 subfamily H member 2, the group of Olfactory receptors, family 11

Basic information

Region (hg38): 14:19712936-19713883

Previous symbols: [ "OR11H2P", "OR11H8P", "C14orf15" ]

Links

ENSG00000258453 ∙ NCBI:79334 ∙ ∙ HGNC:14716 ∙ Uniprot:Q8NH07 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OR11H2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR11H2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			25	3		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	5	0

Variants in OR11H2

This is a list of pathogenic ClinVar variants found in the OR11H2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-19712944-T-C		not specified	Uncertain significance (Mar 04, 2024)
14-19712977-C-T		not specified	Uncertain significance (Mar 15, 2024)
14-19713044-C-A		not specified	Uncertain significance (Jan 25, 2023)
14-19713044-C-G		not specified	Uncertain significance (Dec 02, 2022)
14-19713079-C-T		not specified	Conflicting classifications of pathogenicity (Dec 01, 2022)
14-19713162-G-A		not specified	Uncertain significance (Aug 02, 2021)
14-19713170-T-C			Likely benign (Mar 01, 2023)
14-19713172-T-C		not specified	Uncertain significance (May 24, 2023)
14-19713209-G-A			Likely benign (Oct 01, 2022)
14-19713214-G-C		not specified	Uncertain significance (Dec 03, 2021)
14-19713321-A-C		not specified	Uncertain significance (Oct 03, 2022)
14-19713330-G-A		not specified	Uncertain significance (Mar 20, 2023)
14-19713331-G-C		not specified	Uncertain significance (Jan 29, 2024)
14-19713358-T-C		not specified	Uncertain significance (Aug 31, 2022)
14-19713443-T-A		not specified	Uncertain significance (Dec 20, 2023)
14-19713444-T-A		not specified	Uncertain significance (Dec 27, 2022)
14-19713448-C-T		not specified	Likely benign (Mar 08, 2024)
14-19713456-T-A		not specified	Uncertain significance (Jun 11, 2024)
14-19713468-A-G		not specified	Uncertain significance (Oct 18, 2021)
14-19713489-C-T		not specified	Uncertain significance (Mar 29, 2023)
14-19713511-C-T		not specified	Uncertain significance (Sep 13, 2023)
14-19713516-G-A		not specified	Uncertain significance (Nov 09, 2021)
14-19713526-T-C		not specified	Uncertain significance (Nov 19, 2022)
14-19713546-G-A		not specified	Uncertain significance (Jun 03, 2024)
14-19713600-T-G		not specified	Likely benign (Jun 18, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Odorant receptor. {ECO:0000305}.
• Pathway: Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling (Consensus)

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;detection of chemical stimulus involved in sensory perception of smell
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: G protein-coupled receptor activity;olfactory receptor activity