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Gene Gene information from NCBI Gene database.
Entrez ID 54776
Gene name Protein phosphatase 1 regulatory subunit 12C
Gene symbol PPP1R12C
Synonyms (NCBI Gene)
AAVS1LENG3MBS85p84p85
Chromosome 19
Chromosome location 19q13.42
Summary The gene encodes a subunit of myosin phosphatase. The encoded protein regulates the catalytic activity of protein phosphatase 1 delta and assembly of the actin cytoskeleton. Alternatively spliced transcript variants encoding multiple isoforms have been ob
miRNA miRNA information provided by mirtarbase database.
175 Show/Hide all (175)
miRTarBase ID miRNA Experiments Reference
MIRT027085 hsa-miR-103a-3p Sequencing 20371350
MIRT028373 hsa-miR-32-5p Sequencing 20371350
MIRT051961 hsa-let-7b-5p CLASH 23622248
MIRT038627 hsa-miR-125b-2-3p CLASH 23622248
MIRT038336 hsa-miR-130b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11 Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IEA
GO:0004857 Function Enzyme inhibitor activity IBA
GO:0005515 Function Protein binding IPI 12080061, 21988832, 22153077, 25416956, 27812135, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613245 14947 ENSG00000125503
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BZL4
Protein name Protein phosphatase 1 regulatory subunit 12C (Protein phosphatase 1 myosin-binding subunit of 85 kDa) (Protein phosphatase 1 myosin-binding subunit p85)
Protein function Regulates myosin phosphatase activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 55 → 164 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 196 → 290 Ankyrin repeats (3 copies) Repeat
PF13637 Ank_4 101 → 154 Repeat
PF15898 PRKG1_interact 682 → 782 cGMP-dependent protein kinase interacting domain Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Highly expressed in heart. {ECO:0000269|PubMed:11399775}.
Sequence
MSGEDGPAAGPGAAAAAARERRREQLRQWGARAGAEPGPGERRARTVRFERAAEFLAACA
GGDLDEARLMLRAADPGPGAELDPAAPPPARAVLDSTNAD
GISALHQACIDENLEVVRFL
VEQGATVNQADNEGWTPLHVAASCGYLDIARYLL
SHGANIAAVN
SDGDLPLDLAESDAME
GLLKAEIARRGVDVEAAKRAEEELLLHDTRCWLNGGAMPEARHPRTGASALHVAAAKGYI
EVMRLLLQAGYDPELRDGDGWTPLHAAAHWGVEDACRLLAEHGGGMDSLT
HAGQRPCDLA
DEEVLSLLEELARKQEDLRNQKEASQSRGQEPQAPSSSKHRRSSVCRLSSREKISLQDLS
KERRPGGAGGPPIQDEDEGEEGPTEPPPAEPRTLNGVSSPPHPSPKSPVQLEEAPFSRRF
GLLKTGSSGALGPPERRTAEGAPGAGLQRSASSSWLEGTSTQAKELRLARITPTPSPKLP
EPSVLSEVTKPPPCLENSSPPSRIPEPESPAKPNVPTASTAPPADSRDRRRSYQMPVRDE
ESESQRKARSRLMRQSRRSTQGVTLTDLKEAEKAAGKAPESEKPAQSLDPSRRPRVPGVE
NSDSPAQRAEAPDGQGPGPQAAREHRKVGKEWRGPAEGEEAEPADRSQESSTLEGGPSAR
RQRWQRDLNPEPEPESEEPDGGFRTLYAELRRENERLREALTETTLRLAQLKVELERATQ
RQERFAERPALLELERFERRALERKAAELEEELKALSDLRADNQRLKDENAALIRVISKL
SK
Sequence length 782
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway
Vascular smooth muscle contraction
Focal adhesion
Regulation of actin cytoskeleton
Oxytocin signaling pathway
Proteoglycans in cancer
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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 Reference Evidence Score
Malignant tumor of urinary bladder Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (99)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 1310887
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha 1-Antitrypsin Deficiency Alpha 1-Antitrypsin Deficiency BEFREE 21609134
★★★★★
★☆☆☆☆
Found in Text Mining only
Alpha-Sarcoglycanopathies Limb-girdle muscular dystrophy BEFREE 21031578
★★★★★
★☆☆☆☆
Found in Text Mining only
Angioedemas, Hereditary Angioedema BEFREE 30059156
★★★★★
★☆☆☆☆
Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular cardiomyopathy BEFREE 25857910
★★★★★
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 15975012, 17266422
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16579640, 23222510, 28027535
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 10077559 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 1310887
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 31160686
★★★★★
★☆☆☆☆
Found in Text Mining only