MYL12B

myosin light chain 12B, the group of Myosin light chains, class 2

Basic information

Region (hg38): 18:3261479-3278461

Links

ENSG00000118680

∙ NCBI:103910 ∙ OMIM:609211 ∙ HGNC:29827 ∙ Uniprot:O14950 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYL12B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYL12B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in MYL12B

This is a list of pathogenic ClinVar variants found in the MYL12B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
18-3277882-A-G		not specified	Uncertain significance (Nov 29, 2021)	2208490

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYL12B	protein_coding	protein_coding	ENST00000581193	3	16376

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.113	0.787	125724	0	4	125728	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.74	50	98.6	0.507	0.00000513	1172
Missense in Polyphen		5	13.511	0.37006		208
Synonymous	1.05	25	32.7	0.765	0.00000161	292
Loss of Function	1.30	2	5.19	0.386	2.16e-7	72

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000291	0.0000291
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000472	0.0000462
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Myosin regulatory subunit that plays an important role in regulation of both smooth muscle and nonmuscle cell contractile activity via its phosphorylation. Phosphorylation triggers actin polymerization in vascular smooth muscle. Implicated in cytokinesis, receptor capping, and cell locomotion. {ECO:0000269|PubMed:10965042}.;
Pathway: Platelet activation - Homo sapiens (human);Focal adhesion - Homo sapiens (human);Tight junction - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Leukocyte transendothelial migration - Homo sapiens (human);Human Thyroid Stimulating Hormone (TSH) signaling pathway;Focal Adhesion;Developmental Biology;Smooth Muscle Contraction;Signal Transduction;EPH-Ephrin signaling;EPHA-mediated growth cone collapse;RHO GTPases Activate ROCKs;RHO GTPases activate PAKs;RHO GTPases activate PKNs;RHO GTPases activate CIT;Muscle contraction;RHO GTPase Effectors;Signaling by Rho GTPases;EGFR1;Sema4D induced cell migration and growth-cone collapse;Sema4D in semaphorin signaling;Semaphorin interactions;Axon guidance (Consensus)

Intolerance Scores

loftool: 0.601
rvis_EVS: 0.04
rvis_percentile_EVS: 56.25

Haploinsufficiency Scores

pHI
hipred: Y
hipred_score: 0.509
ghis: 0.577

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.903

Mouse Genome Informatics

Gene name: Myl12b
Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype; hematopoietic system phenotype;

Gene ontology

Biological process: muscle contraction;regulation of cell shape
Cellular component: stress fiber;cytosol;brush border;myosin II complex;Z disc;apical part of cell;extracellular exosome;cell cortex region
Molecular function: calcium ion binding;protein binding;myosin heavy chain binding