SPRY4

Chr 5AD

sprouty RTK signaling antagonist 4

Also known as: HH17

This gene encodes a member of a family of cysteine- and proline-rich proteins. The encoded protein is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. Activity of this protein impairs the formation of active GTP-RAS. Nucleotide variation in this gene has been associated with hypogonadotropic hypogonadism 17 with or without anosmia. Alternative splicing results in a multiple transcript variants. [provided by RefSeq, Jun 2014]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hypogonadotropic hypogonadism 17 with or without anosmiaMIM #615266
AD
0
Active trials
25
Pubs (1 yr)
P/LP submissions
P/LP missense
1.37
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — SPRY4
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.37LOEUF
pLI 0.000
Z-score 0.81
OE 0.70 (0.381.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.50Z-score
OE missense 0.90 (0.811.02)
198 obs / 218.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.70 (0.381.37)
00.351.4
Missense OE?0.90 (0.811.02)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 6 / 8.6Missense obs/exp: 198 / 218.9Syn Z: -0.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SPRY4 · 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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