IZUMO1R

IZUMO1 receptor, JUNO, the group of Ig-like cell adhesion molecule family

Basic information

Region (hg38): 11:94304579-94308146

Previous symbols: [ "FOLR4" ]

Links

ENSG00000183560 ∙ NCBI:390243 ∙ OMIM:615737 ∙ HGNC:32565 ∙ Uniprot:A6ND01 ∙ 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 IZUMO1R gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IZUMO1R 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			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	0

Variants in IZUMO1R

This is a list of pathogenic ClinVar variants found in the IZUMO1R region.

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

Position	Type	Phenotype	Significance	ClinVar
11-94305683-C-A		not specified	Uncertain significance (Oct 12, 2022)
11-94305746-C-T		not specified	Uncertain significance (May 18, 2023)
11-94305767-A-G		not specified	Uncertain significance (Jun 24, 2022)
11-94306654-A-G		not specified	Uncertain significance (Nov 18, 2023)
11-94306709-G-A		not specified	Uncertain significance (Feb 14, 2023)
11-94307184-G-T		not specified	Uncertain significance (Mar 20, 2024)
11-94307239-A-C		not specified	Uncertain significance (Aug 17, 2022)
11-94307241-A-C		not specified	Uncertain significance (Jun 10, 2024)
11-94307261-T-G		not specified	Uncertain significance (Aug 01, 2023)
11-94307271-A-G		not specified	Uncertain significance (Mar 19, 2024)
11-94307276-C-T		not specified	Uncertain significance (Jul 12, 2023)
11-94307432-C-T		not specified	Uncertain significance (Dec 08, 2023)
11-94307442-A-G		not specified	Uncertain significance (Dec 22, 2023)
11-94307487-C-A		not specified	Uncertain significance (Oct 25, 2023)
11-94307517-C-T		not specified	Uncertain significance (Dec 16, 2022)
11-94307541-G-A		not specified	Uncertain significance (Sep 16, 2021)
11-94307552-C-T		not specified	Uncertain significance (Dec 19, 2023)
11-94307609-C-T		not specified	Uncertain significance (Jul 19, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IZUMO1R	protein_coding	protein_coding	ENST00000440961	4	2129

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.51e-15	0.00104	124830	2	219	125051	0.000884

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.342	151	140	1.08	0.00000815	1599
Missense in Polyphen		54	54.038	0.99929		669
Synonymous	-0.804	62	54.5	1.14	0.00000307	448
Loss of Function	-1.78	18	11.5	1.57	5.78e-7	110

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00140	0.00138
Ashkenazi Jewish	0.000705	0.000696
East Asian	0.000111	0.000110
Finnish	0.0000941	0.0000927
European (Non-Finnish)	0.00126	0.00121
Middle Eastern	0.000111	0.000110
South Asian	0.00108	0.000981
Other	0.00117	0.000985

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for IZUMO1 present at the cell surface of oocytes (oolemma), which is essential for species-specific gamete recognition and fertilization. The IZUMO1:IZUMO1R/JUNO interaction is a necessary adhesion event between sperm and egg that is required for fertilization but is not sufficient for cell fusion. The ligand-receptor interaction probably does not act as a membrane 'fusogen'. Does not bind folate. {ECO:0000250|UniProtKB:Q9EQF4}.
• Pathway: Endocytosis - Homo sapiens (human);Folate Metabolism;Post-translational modification: synthesis of GPI-anchored proteins;Post-translational protein modification;Metabolism of proteins (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146
• ghis: 0.423

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Izumo1r
• Phenotype: homeostasis/metabolism phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); normal phenotype; reproductive system phenotype

Gene ontology

• Biological process: cell adhesion;single fertilization;fusion of sperm to egg plasma membrane involved in single fertilization;sperm-egg recognition
• Cellular component: extracellular region;plasma membrane;anchored component of external side of plasma membrane
• Molecular function: signaling receptor binding;protein binding;folic acid binding;signaling receptor activity