CATSPER2

Chr 15

cation channel sperm associated 2

NCBI Gene: 117155 ENSG00000166762 UniProt: Q96P56 OMIM: 607249

This gene encodes a member of a family of cation channel proteins that localize to the flagellum of spermatozoa. Defects at this locus causes male infertility. Alternatively spliced transcript variants have been observed at this locus. Readthrough transcription originates upstream of this locus in diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 and is represented by GeneID:110006325. Related pseudogenes are found next to this locus on chromosome 15 and on chromosome 5. [provided by RefSeq, Mar 2017]

GeneReviews OMIM Research

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness-infertility syndrome

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — CATSPER2

Authoritative clinical overview · Recommended first read

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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 CATSPER2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 62

645 rare PASS variants

Rare truncating (LoF)

1 in 620

113 rare PASS variants

Rare synonymous (reference)

1 in 110

227 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CATSPER2. 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 99	1 in 660
South Asian	~43k	1 in 64	1 in 1,400
Remaining (unassigned)	~30k	1 in 59	1 in 600
European (Finnish)	~27k	1 in 470	1 in 1,200
Admixed American	~22k	1 in 85	1 in 530
African / African American	~21k	1 in 47	1 in 600
East Asian	~20k	1 in 77	1 in 560
Ashkenazi Jewish	~13k	1 in 440	1 in 690
Middle Eastern	~2,884	1 in 72	≈ 1 in 1,400

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): 12 of 12 coding exons well covered in gnomAD exomes. Genomes: 11 of 12 (exon 6 below).? see exons ↓