MROH2A

Chr 2

maestro heat like repeat family member 2A

Also known as: HEATR7B1

NCBI Gene: 339766ENSG00000185038UniProt: A6NES4

This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.75
LOEUF
DN
Mechanism· predicted
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?
0.75LOEUF
pLI 0.000
Z-score 3.42
OE 0.58 (0.46–0.75)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.10Z-score
OE missense 0.80 (0.75–0.85)
716 obs / 892.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.58 (0.46–0.75)
0≤0.351.4
Missense OE?0.80 (0.75–0.85)
0≤0.61.4
Synonymous OE?0.80
0≤1.21.6
LoF obs/exp: 46 / 78.8Missense obs/exp: 716 / 892.2Syn Z: 2.96

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MROH2A · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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