OR2Z1

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

Basic information

Region (hg38): 19:8721633-8732160

Previous symbols: [ "OR2Z2" ]

Links

ENSG00000181733 ∙ NCBI:284383 ∙ ∙ HGNC:15391 ∙ Uniprot:Q8NG97 ∙ 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 OR2Z1 gene.

• Inborn genetic diseases (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OR2Z1 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						0
missense			18	1		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	1	0

Variants in OR2Z1

This is a list of pathogenic ClinVar variants found in the OR2Z1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-8731048-C-T		not specified	Uncertain significance (Dec 16, 2022)
19-8731159-T-G		not specified	Uncertain significance (Apr 07, 2022)
19-8731176-C-T		not specified	Uncertain significance (Dec 21, 2022)
19-8731184-C-A		not specified	Uncertain significance (Nov 22, 2021)
19-8731188-C-T		not specified	Uncertain significance (May 30, 2023)
19-8731237-A-G		not specified	Uncertain significance (Sep 27, 2022)
19-8731254-G-T		not specified	Uncertain significance (Jun 12, 2023)
19-8731272-G-A		not specified	Uncertain significance (Jan 04, 2022)
19-8731365-G-A		not specified	Likely benign (Sep 17, 2021)
19-8731420-A-G		not specified	Uncertain significance (Jan 10, 2023)
19-8731425-C-A		not specified	Uncertain significance (Mar 24, 2023)
19-8731436-G-C		not specified	Uncertain significance (Jan 06, 2023)
19-8731446-G-T		not specified	Uncertain significance (Feb 06, 2024)
19-8731458-A-C		not specified	Uncertain significance (Nov 21, 2023)
19-8731553-T-A		not specified	Uncertain significance (Nov 15, 2021)
19-8731586-G-C		not specified	Uncertain significance (Jun 28, 2023)
19-8731602-A-T		not specified	Uncertain significance (Jan 05, 2022)
19-8731603-C-A		not specified	Uncertain significance (Nov 06, 2023)
19-8731620-G-A		not specified	Uncertain significance (Apr 20, 2023)
19-8731668-A-C		not specified	Uncertain significance (Sep 26, 2023)
19-8731684-G-C		not specified	Uncertain significance (Mar 07, 2024)
19-8731699-C-A		not specified	Uncertain significance (May 11, 2022)
19-8731730-A-T		not specified	Uncertain significance (Nov 03, 2023)
19-8731776-C-A		not specified	Uncertain significance (Feb 22, 2023)
19-8731795-T-C		not specified	Uncertain significance (Dec 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OR2Z1	protein_coding	protein_coding	ENST00000324060	1	1056

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.08e-7	0.0786	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.13	228	185	1.23	0.0000108	2021
Missense in Polyphen		75	56.602	1.3251		735
Synonymous	-0.295	80	76.7	1.04	0.00000463	694
Loss of Function	-1.06	8	5.36	1.49	2.28e-7	71

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.850
• rvis_EVS: -0.6
• rvis_percentile_EVS: 18.06

Haploinsufficiency Scores

• pHI: 0.0391
• hipred: N
• hipred_score: 0.146
• ghis: 0.430

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0751

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Olfr373

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