MYL12B

Chr 18

myosin light chain 12B

Also known as: MLC-B, MRLC2

NCBI Gene: 103910ENSG00000118680UniProt: O14950

The activity of nonmuscle myosin II (see MYH9; MIM 160775) is regulated by phosphorylation of a regulatory light chain, such as MRLC2. This phosphorylation results in higher MgATPase activity and the assembly of myosin II filaments (Iwasaki et al., 2001 [PubMed 11942626]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.20
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

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.20LOEUF
pLI 0.113
Z-score 1.30
OE 0.39 (0.16–1.20)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.74Z-score
OE missense 0.51 (0.40–0.64)
50 obs / 98.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.39 (0.16–1.20)
0≤0.351.4
Missense OE?0.51 (0.40–0.64)
0≤0.61.4
Synonymous OE?0.77
0≤1.21.6
LoF obs/exp: 2 / 5.2Missense obs/exp: 50 / 98.6Syn Z: 1.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MYL12B · 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