DRP2

Chr X

dystrophin related protein 2

Also known as: DRP-2

Members of the dystrophin family of proteins perform a critical role in the maintenance of membrane-associated complexes at points of intercellular contact in vertebrate cells. The protein encoded by this gene is predicted to resemble certain short C-terminal isoforms of dystrophin and dystrophin-related protein 1 (DRP1 or utrophin). DRP2 is expressed principally in the brain and spinal cord. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

GeneReviewsResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
0.63
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — DRP2
Authoritative clinical overview · Recommended first read
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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?
0.63LOEUF
pLI 0.000
Z-score 3.38
OE 0.41 (0.280.63)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.70Z-score
OE missense 0.76 (0.690.83)
292 obs / 386.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.41 (0.280.63)
00.351.4
Missense OE?0.76 (0.690.83)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 16 / 38.7Missense obs/exp: 292 / 386.0Syn Z: 1.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DRP2 · 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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