SUN5

Chr 20AR

Sad1 and UNC84 domain containing 5

Also known as: SPAG4L, SPGF16, TSARG4, dJ726C3.1

The protein encoded by this gene appears to play a role in the meiotic stage of spermatogenesis. The encoded protein localizes to the junction between the sperm head and body and may be involved in nuclear envelope reconstitution and nuclear migration. Mutations in this gene have been implicated in acephalic spermatozoa syndrome. [provided by RefSeq, May 2017]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Spermatogenic failure 16MIM #617187
AR
0
Active trials
10
Pubs (1 yr)
P/LP submissions
P/LP missense
1.25
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.25LOEUF
pLI 0.000
Z-score 0.57
OE 0.88 (0.631.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.69Z-score
OE missense 0.87 (0.770.98)
186 obs / 214.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.88 (0.631.25)
00.351.4
Missense OE?0.87 (0.770.98)
00.61.4
Synonymous OE?0.90
01.21.6
LoF obs/exp: 22 / 25.1Missense obs/exp: 186 / 214.4Syn Z: 0.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SUN5 · 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 →