SH3D19

Chr 4

SH3 domain containing 19

Also known as: EBP, EVE1, Eve-1, Kryn, SH3P19

This gene encodes a multiple SH3 domain-containing protein, which interacts with other proteins, such as EBP and members of ADAM family, via the SH3 domains. This protein may be involved in suppression of Ras-induced cellular transformation and Ras-mediated activation of ELK1 by EBP, and regulation of ADAM proteins in the signaling of EGFR-ligand shedding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

OMIMResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
P/LP submissions
P/LP missense
0.61
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.61LOEUF
pLI 0.000
Z-score 3.49
OE 0.40 (0.270.61)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.58Z-score
OE missense 0.92 (0.841.00)
385 obs / 418.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.40 (0.270.61)
00.351.4
Missense OE?0.92 (0.841.00)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 16 / 39.7Missense obs/exp: 385 / 418.5Syn Z: 1.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SH3D19 · 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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