• Gene id: 4660

Gene Summary

• Gene Symbol: PPP1R12B   Gene   UCSC   Ensembl
• Aliases: MYPT2, PP1bp55
• Gene name: protein phosphatase 1 regulatory subunit 12B
• Alternate names: protein phosphatase 1 regulatory subunit 12B, myosin phosphatase target subunit 2, myosin phosphatase-targeting subunit 2, protein phosphatase 1, regulatory (inhibitor) subunit 12B,
• Gene location: 1q32.1 (202348698: 202592701)     Exons: 33     NC_000001.11
• Gene summary(Entrez): Myosin phosphatase is a protein complex comprised of three subunits: a catalytic subunit (PP1c-delta, protein phosphatase 1, catalytic subunit delta), a large regulatory subunit (MYPT, myosin phosphatase target) and small regulatory subunit (sm-M20). Two
• OMIM: 617521

Protein Summary

• Protein general information: O60237  
  • Name: Protein phosphatase 1 regulatory subunit 12B (Myosin phosphatase targeting subunit 2) (Myosin phosphatase target subunit 2)
  • Length: 982  
  • Mass: 110404
  • Tissue specificity: Detected in skeletal muscle, fetal and adult heart, brain, placenta, kidney, spleen, thymus, pancreas and lung. Isoform 3 and isoform 4 are heart specific. {ECO
• Sequence:

  MAELEHLGGKRAESARMRRAEQLRRWRGSLTEQEPAERRGAGRQPLTRRGSPRVRFEDGAVFLAACSSGDTDEVR
  KLLARGADINTVNVDGLTALHQACIDENLDMVKFLVENRANVNQQDNEGWTPLHAAASCGYLNIAEYFINHGASV
  GIVNSEGEVPSDLAEEPAMKDLLLEQVKKQGVDLEQSRKEEEQQMLQDARQWLNSGKIEDVRQARSGATALHVAA
  AKGYSEVLRLLIQAGYELNVQDYDGWTPLHAAAHWGVKEACSILAEALCDMDIRNKLGQTPFDVADEGLVEHLEL
  LQKKQNVLRSEKETRNKLIESDLNSKIQSGFFKNKEKMLYEEETPKSQEMEEENKESSSSSSEEEEGEDEASESE
  TEKEADKKPEAFVNHSNSESKSSITEQIPAPAQNTFSASSARRFSSGLFNKPEEPKDESPSSWRLGLRKTGSHNM
  LSEVANSREPIRDRGSSIYRSSSSPRISALLDNKDKERENKSYISSLAPRKLNSTSDIEEKENRESAVNLVRSGS
  YTRQLWRDEAKGNEIPQTIAPSTYVSTYLKRTPHKSQADTTAEKTADNVSSSTPLCVITNRPLPSTANGVTATPV
  LSITGTDSSVEAREKRRSYLTPVRDEEAESLRKARSRQARQTRRSTQGVTLTDLQEAERTFSRSRAERQAQEQPR
  EKPTDTEGLEGSPEKHEPSAVPATEAGEGQQPWGRSLDEEPICHRLRCPAQPDKPTTPASPSTSRPSLYTSSHLL
  WTNRFSVPDSESSETTTNTTTAKEMDKNENEEADLDEQSSKRLSIRERRRPKERRRGTGINFWTKDEDETDGSEE
  VKETWHERLSRLESGGSNPTTSDSYGDRASARARREAREARLATLTSRVEEDSNRDYKKLYESALTENQKLKTKL
  QEAQLELADIKSKLEKVAQQKQEKTSDRSSVLEMEKRERRALERKMSEMEEEMKVLTELKSDNQRLKDENGALIR
  VISKLSK

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  IPR017401  IPR031775  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000476755
• Other Databases: GeneCards:  PPP1R12B  Malacards:  PPP1R12B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019208	phosphatase regulator activity	IBA	molecular function
GO:0004857	enzyme inhibitor activity	IBA	molecular function
GO:0031672	A band	IBA	cellular component
GO:0030018	Z disc	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0030018	Z disc	ISS	cellular component
GO:0031672	A band	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0019208	phosphatase regulator activity	IEA	molecular function
GO:0019901	protein kinase binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0008047	enzyme activator activity	TAS	molecular function
GO:0006937	regulation of muscle contraction	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0043085	positive regulation of catalytic activity	IEA	biological process
GO:0043086	negative regulation of catalytic activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa04510	Focal adhesion
hsa05205	Proteoglycans in cancer
hsa04921	Oxytocin signaling pathway
hsa04270	Vascular smooth muscle contraction

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq