OR2I1P

olfactory receptor family 2 subfamily I member 1 pseudogene, the group of Olfactory receptors, family 2

Basic information

Region (hg38): 6:29550406-29557773

Previous symbols: [ "OR2I1", "OR2I3P", "OR2I4P", "OR2I2" ]

Links

ENSG00000237988 ∙ NCBI:442197 ∙ ∙ HGNC:8258 ∙ Uniprot:Q8NGU4 ∙ 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 OR2I1P gene.

• not provided (2 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2I1P 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				1		1
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1	1		2
Total	0	0	1	2	0

Variants in OR2I1P

This is a list of pathogenic ClinVar variants found in the OR2I1P region.

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

Position	Type	Phenotype	Significance	ClinVar
6-29553698-G-T			Likely benign (Sep 01, 2022)
6-29555916-G-T		not specified	Uncertain significance (Oct 16, 2023)
6-29555933-C-T			Likely benign (Jun 25, 2018)
6-29556148-G-A		not specified	Uncertain significance (Apr 05, 2023)
6-29556179-C-T		not specified	Uncertain significance (Oct 05, 2023)
6-29556340-C-T		not specified	Likely benign (Feb 28, 2024)

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