RNF212

Chr 4AR

ring finger protein 212

SUMO E3 ligase that acts as a regulator of crossing-over during meiosis: required to couple chromosome synapsis to the formation of crossover-specific recombination complexes. Localizes to recombination sites and stabilizes meiosis-specific recombination factors, such as MutS-gamma complex proteins (MSH4 and MSH5) and TEX11. May mediate sumoylation of target proteins MSH4 and/or MSH5, leading to enhance their binding to recombination sites. Acts as a limiting factor for crossover designation and/or reinforcement and plays an antagonist role with CCNB1IP1/HEI10 in the regulation of meiotic recombination (By similarity)

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Spermatogenic failure 62MIM #619673
AR
Recombination rate QTL 1MIM #612042
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
0.86
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.002
Z-score 1.95
OE 0.46 (0.260.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.07Z-score
OE missense 0.98 (0.871.12)
162 obs / 164.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.46 (0.260.86)
00.351.4
Missense OE?0.98 (0.871.12)
00.61.4
Synonymous OE?0.97
01.21.6
LoF obs/exp: 7 / 15.2Missense obs/exp: 162 / 164.5Syn Z: 0.17

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

RNF212 · 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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