IZUMO1R

Chr 11

IZUMO1 receptor, JUNO

Also known as: FOLR4, FR-delta, Folbp3, JUNO

NCBI Gene: 390243 ENSG00000183560 UniProt: A6ND01 OMIM: 615737

Enables signaling receptor activity. Involved in fusion of sperm to egg plasma membrane involved in single fertilization. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in IZUMO1R?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 190

339 rare PASS variants

Rare truncating (LoF)

1 in 1,400

58 rare PASS variants

Rare synonymous (reference)

1 in 140

141 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for IZUMO1R. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 230	1 in 1,800
South Asian	~43k	1 in 130	1 in 420
Remaining (unassigned)	~30k	1 in 120	1 in 1,100
European (Finnish)	~27k	1 in 1,100	1 in 1,900
Admixed American	~22k	1 in 210	1 in 610
African / African American	~21k	1 in 120	1 in 930
East Asian	~20k	1 in 190	1 in 1,800
Ashkenazi Jewish	~13k	1 in 410	1 in 730
Middle Eastern	~2,884	1 in 140	≈ 1 in 920

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 4 of 4 coding exons well covered in gnomAD exomes. Genomes: 3 of 4 (exon 2 below).? see exons ↓