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]

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0
Active trials
0
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.75
LOEUF
DN
Mechanism· predicted
Clinical Summary— MROH2A
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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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 OE0.58 (0.46–0.75)
0≤0.351.4
Missense OE0.80 (0.75–0.85)
0≤0.61.4
Synonymous OE0.80
0≤1.21.6
LoF obs/exp: 46 / 78.8Missense obs/exp: 716 / 892.2Syn Z: 2.96
DN
0.6937th %ile
GOF
0.6248th %ile
LOF
0.2680th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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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