MKRN3

Chr 15

makorin ring finger protein 3

Also known as: CPPB2, D15S9, RNF63, ZFP127, ZNF127

NCBI Gene: 7681ENSG00000179455UniProt: Q13064

The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPrecocious puberty, central 2

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
1
Active trials
39
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.63
LOEUF
GOF
Mechanism· predicted
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GeneReview available — MKRN3
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

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.63LOEUF
pLI 0.278
Z-score 2.45
OE 0.25 (0.11–0.63)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.42Z-score
OE missense 1.07 (0.97–1.17)
329 obs / 308.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.25 (0.11–0.63)
0≤0.351.4
Missense OE?1.07 (0.97–1.17)
0≤0.61.4
Synonymous OE?1.25
0≤1.21.6
LoF obs/exp: 3 / 12.2Missense obs/exp: 329 / 308.1Syn Z: -2.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MKRN3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients