Gene Gene information from NCBI Gene database.
Entrez ID 4659
Gene name Protein phosphatase 1 regulatory subunit 12A
Gene symbol PPP1R12A
Synonyms (NCBI Gene)
GUBSM130MBSMYPT1
Chromosome 12
Chromosome location 12q21.2-q21.31
Summary Myosin phosphatase target subunit 1, which is also called the myosin-binding subunit of myosin phosphatase, is one of the subunits of myosin phosphatase. Myosin phosphatase regulates the interaction of actin and myosin downstream of the guanosine triphosp
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs1356631664 G>A,T Pathogenic Synonymous variant, stop gained, coding sequence variant
rs1592629980 GA>- Pathogenic Stop gained, coding sequence variant
rs1592661703 T>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
660
miRTarBase ID miRNA Experiments Reference
MIRT024772 hsa-miR-215-5p Microarray 19074876
MIRT026571 hsa-miR-192-5p Microarray 19074876
MIRT027917 hsa-miR-96-5p Sequencing 20371350
MIRT028611 hsa-miR-30a-5p Proteomics 18668040
MIRT047894 hsa-miR-30c-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0000278 Process Mitotic cell cycle IMP 18477460
GO:0000776 Component Kinetochore IDA 18477460
GO:0001725 Component Stress fiber IEA
GO:0004857 Function Enzyme inhibitor activity IBA
GO:0004857 Function Enzyme inhibitor activity IDA 19245366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602021 7618 ENSG00000058272
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14974
Protein name Protein phosphatase 1 regulatory subunit 12A (Myosin phosphatase-targeting subunit 1) (Myosin phosphatase target subunit 1) (Protein phosphatase myosin-binding subunit)
Protein function Key regulator of protein phosphatase 1C (PPP1C). Mediates binding to myosin. As part of the PPP1C complex, involved in dephosphorylation of PLK1. Capable of inhibiting HIF1AN-dependent suppression of HIF1A activity. {ECO:0000269|PubMed:18477460,
PDB 2KJY , 5HUZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00023 Ank 72 104 Ankyrin repeat Repeat
PF00023 Ank 105 137 Ankyrin repeat Repeat
PF00023 Ank 198 230 Ankyrin repeat Repeat
PF00023 Ank 231 263 Ankyrin repeat Repeat
PF15898 PRKG1_interact 931 1030 cGMP-dependent protein kinase interacting domain Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Expressed in striated muscles, specifically in type 2a fibers (at protein level). {ECO:0000269|PubMed:20634291}.
Sequence
MKMADAKQKRNEQLKRWIGSETDLEPPVVKRQKTKVKFDDGAVFLAACSSGDTDEVLKLL
HRGADINYANVDGLTALHQACIDDNVDMVKFLVENGANINQPDNEGWIPLHAAASCGYLD
IAEFLIGQGAHVGAVNS
EGDTPLDIAEEEAMEELLQNEVNRQGVDIEAARKEEERIMLRD
ARQWLNSGHINDVRHAKSGGTALHVAAAKGYTEVLKLLIQAGYDVNIKDYDGWTPLHAAA
HWGKEEACRILVDNLCDMEMVNK
VGQTAFDVADEDILGYLEELQKKQNLLHSEKRDKKSP
LIESTANMDNNQSQKTFKNKETLIIEPEKNASRIESLEQEKVDEEEEGKKDESSCSSEED
EEDDSESEAETDKTKPLASVTNANTSSTQAAPVAVTTPTVSSGQATPTSPIKKFPTTATK
ISPKEEERKDESPATWRLGLRKTGSYGALAEITASKEGQKEKDTAGVTRSASSPRLSSSL
DNKEKEKDSKGTRLAYVAPTIPRRLASTSDIEEKENRDSSSLRTSSSYTRRKWEDDLKKN
SSVNEGSTYHKSCSFGRRQDDLISSSVPSTTSTPTVTSAAGLQKSLLSSTSTTTKITTGS
SSAGTQSSTSNRLWAEDSTEKEKDSVPTAVTIPVAPTVVNAAASTTTLTTTTAGTVSSTT
EVRERRRSYLTPVRDEESESQRKARSRQARQSRRSTQGVTLTDLQEAEKTIGRSRSTRTR
EQENEEKEKEEKEKQDKEKQEEKKESETSREDEYKQKYSRTYDETYQRYRPVSTSSSTTP
SSSLSTMSSSLYASSQLNRPNSLVGITSAYSRGITKENEREGEKREEEKEGEDKSQPKSI
RERRRPREKRRSTGVSFWTQDSDENEQEQQSDTEEGSNKKETQTDSISRYETSSTSAGDR
YDSLLGRSGSYSYLEERKPYSSRLEKDDSTDFKKLYEQILAENEKLKAQLHDTNMELTDL
KLQLEKATQRQERFADRSLLEMEKRERRALERRISEMEEELKMLPDLKADNQRLKDENGA
LIRVISKLSK
Sequence length 1030
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  cGMP-PKG signaling pathway
cAMP signaling pathway
Vascular smooth muscle contraction
Focal adhesion
Platelet activation
Regulation of actin cytoskeleton
Oxytocin signaling pathway
Proteoglycans in cancer
  Regulation of PLK1 Activity at G2/M Transition
RHO GTPases activate PKNs
RHO GTPases activate PAKs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Genitourinary and/or brain malformation syndrome Pathogenic; Likely pathogenic rs2137028448, rs761795743, rs2136997832, rs2548108996, rs2547891962, rs2547884822, rs2547893717, rs2547952219, rs2547952059, rs2548018046, rs1356631664, rs1592661703, rs1592629980, rs1879250715, rs868109198
View all (2 more)
RCV001528129
RCV001814720
RCV002226964
RCV003148564
RCV003229532
View all (12 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PPP1R12A-related disorder Pathogenic rs2547893717, rs2547891931 RCV003408382
RCV003939337
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
GESTATIONAL DIABETES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 23967318
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 24074453
★☆☆☆☆
Found in Text Mining only
Bartter Disease Bartter syndrome BEFREE 24356540
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29183848, 37957190 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28074910 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 30946934 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 36106411 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma, Neuroendocrine Carcinoma BEFREE 30946934
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 17030349
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 26113782
★☆☆☆☆
Found in Text Mining only