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

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; AllianceGenome:HGNC:29827
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: mouse all
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Genomic context

Location:: 18p11.31

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (3262133..3278461)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (3421438..3437816)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (3262131..3278459)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

phosphorylated MRLC temporally controls its own accumulation, but not that of actin, in cultured mammalian cells.
Title: Phosphorylation of myosin II regulatory light chain controls its accumulation, not that of actin, at the contractile ring in HeLa cells.
The study data show that manipulation of the activation sites (Thr18/Ser19) significantly alters myosin II function in a number of these assays while manipulation of the putative inhibitory sites (Ser1/Ser2/Thr9) does not.
Title: Analysis of the role of Ser1/Ser2/Thr9 phosphorylation on myosin II assembly and function in live cells.
These results suggest that 2P-MRLC has a role different from that of 1P-MRLC at the midzone, and is not a subunit of myosin II.
Title: Diphosphorylated but not monophosphorylated myosin II regulatory light chain localizes to the midzone without its heavy chain during cytokinesis.
Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
These results suggest that EGCG inhibits the cell growth by reducing the MRLC phosphorylation and this effect is mediated by the 67LR.
Title: Epigallocatechin-3-O-gallate disrupts stress fibers and the contractile ring by reducing myosin regulatory light chain phosphorylation mediated through the target molecule 67 kDa laminin receptor.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables myosin heavy chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables myosin heavy chain binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of cell shape	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Z disc	IEA Inferred from Electronic Annotation more info
located_in apical part of cell	IEA Inferred from Electronic Annotation more info
located_in brush border	IEA Inferred from Electronic Annotation more info
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in myofibril	IBA Inferred from Biological aspect of Ancestor more info
part_of myosin II complex	IBA Inferred from Biological aspect of Ancestor more info
part_of myosin II complex	IEA Inferred from Electronic Annotation more info
is_active_in stress fiber	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: myosin regulatory light chain 12B

Names: MLC-2; MLC-2A; MLC20; SHUJUN-1; myosin regulatory light chain 2; myosin regulatory light chain 20 kDa; myosin regulatory light chain MRLC2; myosin, light chain 12B, regulatory

NCBI Reference Sequences (RefSeq)

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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)

NM_001144944.1 → NP_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

D3DUH6, O14950, Q13182, Q7Z5Z4

UniProtKB/TrEMBL

Q53HL1

Related

ENSP00000383037.5, ENST00000400175.9

Conserved Domains (1) summary

COG5126
Location:19 → 169

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
NM_001144945.1 → NP_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

D3DUH6, O14950, Q13182, Q7Z5Z4

UniProtKB/TrEMBL

Q53HL1

Related

ENSP00000463559.1, ENST00000581193.5

Conserved Domains (1) summary

COG5126
Location:19 → 169

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
NM_033546.4 → NP_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

D3DUH6, O14950, Q13182, Q7Z5Z4

UniProtKB/TrEMBL

Q53HL1

Related

ENSP00000237500.5, ENST00000237500.10

Conserved Domains (1) summary

COG5126
Location:19 → 169

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

3262133..3278461

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060942.1 Alternate T2T-CHM13v2.0

Range

3421438..3437816

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.