DPY19L2

Chr 12

dpy-19 like 2

Also known as: SPATA34, SPGF9

The protein encoded by this gene belongs to the dpy-19 family. It is highly expressed in testis, and is required for sperm head elongation and acrosome formation during spermatogenesis. Mutations in this gene are associated with an infertility disorder, spermatogenic failure type 9 (SPGF9). [provided by RefSeq, Dec 2011]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpermatogenic failure 9

Clinical highlights

Gene-disease validity (ClinGen)
male infertility due to globozoospermia · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
0.91
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — DPY19L2
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?
0.91LOEUF
pLI 0.000
Z-score 2.04
OE 0.66 (0.480.91)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.71Z-score
OE missense 0.90 (0.820.98)
345 obs / 384.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.66 (0.480.91)
00.351.4
Missense OE?0.90 (0.820.98)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 27 / 41.1Missense obs/exp: 345 / 384.3Syn Z: 0.32

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DPY19L2 · 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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