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MYL12B myosin light chain 12B [ Homo sapiens (human) ]

Gene ID: 103910, updated on 7-Jun-2020

Summary

Official Symbol
MYL12Bprovided by HGNC
Official Full Name
myosin light chain 12Bprovided by HGNC
Primary source
HGNC:HGNC:29827
See related
Ensembl:ENSG00000118680 MIM:609211
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MLC-B; MRLC2
Summary
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]
Expression
Ubiquitous expression in colon (RPKM 243.9), lung (RPKM 208.5) and 25 other tissues See more
Orthologs

Genomic context

See MYL12B in Genome Data Viewer
Location:
18p11.31
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (3262133..3278461)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (3262111..3278282)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene myomesin 1 Neighboring gene uncharacterized LOC101927044 Neighboring gene uncharacterized LOC104968399 Neighboring gene myosin light chain 12A Neighboring gene Sharpr-MPRA regulatory region 9674 Neighboring gene CRISPRi-validated cis-regulatory element chr18.117

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetically distinct subsets within ANCA-associated vasculitis.
NHGRI GWA Catalog
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Treatment of human brain endothelial cells with Tat markedly elevates GTP-RhoA levels and the potential downstream effectors, such as myosin phosphatase target subunit 1 and myosin light chain PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
myosin heavy chain binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
muscle contraction TAS
Traceable Author Statement
more info
 
regulation of cell shape IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Z disc IEA
Inferred from Electronic Annotation
more info
 
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
brush border IEA
Inferred from Electronic Annotation
more info
 
cell cortex region IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
myosin II complex IEA
Inferred from Electronic Annotation
more info
 
stress fiber IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
myosin regulatory light chain 12B
Names
MLC-2
MLC-2A
MLC20
SHUJUN-1
myosin regulatory light chain 2
myosin regulatory light chain 2-B, smooth muscle isoform
myosin regulatory light chain 20 kDa
myosin regulatory light chain MRLC2
myosin, light chain 12B, regulatory

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001144944.1NP_001138416.1  myosin regulatory light chain 12B

    See identical proteins and their annotated locations for NP_001138416.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1-3 all encode the same protein.
    Source sequence(s)
    BG696903, CA307094
    Consensus CDS
    CCDS11831.1
    UniProtKB/Swiss-Prot
    O14950
    Related
    ENSP00000383037.5, ENST00000400175.9
    Conserved Domains (1) summary
    COG5126
    Location:19169
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  2. NM_001144945.1NP_001138417.1  myosin regulatory light chain 12B

    See identical proteins and their annotated locations for NP_001138417.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1-3 all encode the same protein.
    Source sequence(s)
    AP005329, CA307094, CN302451
    Consensus CDS
    CCDS11831.1
    UniProtKB/Swiss-Prot
    O14950
    Related
    ENSP00000463559.1, ENST00000581193.5
    Conserved Domains (1) summary
    COG5126
    Location:19169
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  3. NM_033546.4NP_291024.1  myosin regulatory light chain 12B

    See identical proteins and their annotated locations for NP_291024.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1-3 all encode the same protein.
    Source sequence(s)
    AP005329, CA307094
    Consensus CDS
    CCDS11831.1
    UniProtKB/Swiss-Prot
    O14950
    Related
    ENSP00000237500.5, ENST00000237500.9
    Conserved Domains (1) summary
    COG5126
    Location:19169
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    3262133..3278461
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001144946.1: Suppressed sequence

    Description
    NM_001144946.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which aligns to the reference genome with poorly supported non-consensus splice sites.
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