• Gene id: 10627

Gene Summary

• Gene Symbol: MYL12A   Gene   UCSC   Ensembl
• Aliases: HEL-S-24, MLC-2B, MLCB, MRCL3, MRLC3, MYL2B
• Gene name: myosin light chain 12A
• Alternate names: myosin regulatory light chain 12A, epididymis secretory protein Li 24, myosin RLC, myosin regulatory light chain 2, nonsarcomeric, myosin regulatory light chain 3, myosin regulatory light chain MRLC3, myosin, light chain 12A, regulatory, non-sarcomeric, myosin, ,
• Gene location: 18p11.31 (3247481: 3256236)     Exons: 6     NC_000018.10
• Gene summary(Entrez): This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcrip

Protein Summary

• Protein general information: P19105  
  • Name: Myosin regulatory light chain 12A (Epididymis secretory protein Li 24) (HEL S 24) (MLC 2B) (Myosin RLC) (Myosin regulatory light chain 2, nonsarcomeric) (Myosin regulatory light chain MRLC3)
  • Length: 171  
  • Mass: 19794
• Sequence:

  MSSKRTKTKTKKRPQRATSNVFAMFDQSQIQEFKEAFNMIDQNRDGFIDKEDLHDMLASLGKNPTDEYLDAMMNE
  APGPINFTMFLTMFGEKLNGTDPEDVIRNAFACFDEEATGTIQEDYLRELLTTMGDRFTDEEVDELYREAPIDKK
  GNFNYIEFTRILKHGAKDKDD

• Structural information:
  • Protein Domains: (28..6-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (97..13-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (133..16-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00-)
  • Interpro: IPR011992  IPR018247  IPR015070  IPR002048  
  • Prosite: PS00018 PS50222
  • CDD: cd00051
  • STRING: ENSP00000217652
• Other Databases: GeneCards:  MYL12A  Malacards:  MYL12A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070527	platelet aggregation	HMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05131	Shigellosis
hsa04810	Regulation of actin cytoskeleton
hsa05132	Salmonella infection
hsa04510	Focal adhesion
hsa04360	Axon guidance
hsa04530	Tight junction
hsa04611	Platelet activation
hsa04670	Leukocyte transendothelial migration

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881