CABYR

Chr 18

calcium binding tyrosine phosphorylation regulated

Also known as: CABYRa, CABYRc, CABYRc/d, CABYRe, CBP86, CT88, FSP-2, FSP2

To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased intracellular calcium. The protein encoded by this gene localizes to the principal piece of the sperm flagellum in association with the fibrous sheath and exhibits calcium-binding when phosphorylated during capacitation. A pseudogene on chromosome 3 has been identified for this gene. Alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2013]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.13
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.13LOEUF
pLI 0.000
Z-score 1.18
OE 0.68 (0.431.13)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.41Z-score
OE missense 0.92 (0.811.04)
184 obs / 200.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.68 (0.431.13)
00.351.4
Missense OE?0.92 (0.811.04)
00.61.4
Synonymous OE?0.93
01.21.6
LoF obs/exp: 11 / 16.1Missense obs/exp: 184 / 200.3Syn Z: 0.45

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CABYR · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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