ZNF365

Chr 10

zinc finger protein 365

Also known as: Su48, UAN, ZNF365D

This gene encodes a zinc finger protein that may play a role in the repair of DNA damage and maintenance of genome stability. The N-terminal C2H2 zinc finger motif is required to form a protein complex with PARP1 and MRE11, which are known to be involved in the restart of stalled DNA replication forks. A mutation in this gene may be associated with breast cancer susceptibility. [provided by RefSeq, Mar 2020]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtUric acid nephrolithiasis
0
Active trials
13
Pubs (1 yr)
P/LP submissions
P/LP missense
0.76
LOEUF
Multiple*
Mechanism· predicted
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?
0.76LOEUF
pLI 0.000
Z-score 2.39
OE 0.43 (0.260.76)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.66Z-score
OE missense 0.88 (0.790.99)
228 obs / 257.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.260.76)
00.351.4
Missense OE?0.88 (0.790.99)
00.61.4
Synonymous OE?0.92
01.21.6
LoF obs/exp: 9 / 20.8Missense obs/exp: 228 / 257.8Syn Z: 0.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNF365 · 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 →