SPA17

Chr 11

sperm autoantigenic protein 17

Also known as: CT22, SP17, SP17-1

This gene encodes a protein present at the cell surface. The N-terminus has sequence similarity to human cAMP-dependent protein kinase A (PKA) type II alpha regulatory subunit (RIIa) while the C-terminus has an IQ calmodulin-binding motif. The central portion of the protein has carbohydrate binding motifs and likely functions in cell-cell adhesion. The protein was initially characterized by its involvement in the binding of sperm to the zona pellucida of the oocyte. Recent studies indicate that it is also involved in additional cell-cell adhesion functions such as immune cell migration and metastasis. A retrotransposed pseudogene is present on chromosome 10q22.[provided by RefSeq, Jan 2009]

OMIMResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
1.40
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.40LOEUF
pLI 0.007
Z-score 0.90
OE 0.62 (0.301.40)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.16Z-score
OE missense 1.05 (0.881.25)
86 obs / 82.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.62 (0.301.40)
00.351.4
Missense OE?1.05 (0.881.25)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 4 / 6.5Missense obs/exp: 86 / 82.0Syn Z: -0.14

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SPA17 · 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.

Search ClinicalTrials.gov →