Gene Gene information from NCBI Gene database.
Entrez ID 5537
Gene name Protein phosphatase 6 catalytic subunit
Gene symbol PPP6C
Synonyms (NCBI Gene)
PP6PP6C
Chromosome 9
Chromosome location 9q33.3
Summary This gene encodes the catalytic subunit of protein phosphatase, a component of a signaling pathway regulating cell cycle progression. Splice variants encoding different protein isoforms exist. The pseudogene of this gene is located on chromosome X. [provi
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs763733111 G>A Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
526
miRTarBase ID miRNA Experiments Reference
MIRT027236 hsa-miR-103a-3p Sequencing 20371350
MIRT031938 hsa-miR-16-5p Proteomics 18668040
MIRT031938 hsa-miR-16-5p Sequencing 20371350
MIRT049228 hsa-miR-92a-3p CLASH 23622248
MIRT046636 hsa-miR-222-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000082 Process G1/S transition of mitotic cell cycle IBA
GO:0000082 Process G1/S transition of mitotic cell cycle TAS 9013334
GO:0002376 Process Immune system process IEA
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612725 9323 ENSG00000119414
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00743
Protein name Serine/threonine-protein phosphatase 6 catalytic subunit (PP6C) (EC 3.1.3.16) [Cleaved into: Serine/threonine-protein phosphatase 6 catalytic subunit, N-terminally processed]
Protein function Catalytic subunit of protein phosphatase 6 (PP6) (PubMed:17079228, PubMed:29053956, PubMed:32474700). PP6 is a component of a signaling pathway regulating cell cycle progression in response to IL2 receptor stimulation (PubMed:10227379). N-termin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00149 Metallophos 46 241 Calcineurin-like phosphoesterase Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in all tissues tested with highest expression levels in testis, heart, kidney, brain, stomach, liver and skeletal muscle and lowest in placenta, lung colon and spleen. {ECO:0000269|PubMed:16769727, ECO:0000269|Pu
Sequence
Sequence length 305
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    COPII-mediated vesicle transport
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)
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
CANNABIS DEPENDENCE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELANOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE GWAS catalog
★★☆☆☆
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
Breast Diseases Breast disease Pubtator 21451261 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21451261 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma Pubtator 24718460 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 21481188 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Basal Cell Carcinoma CTD_human_DG 26950094
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Celiac Disease Celiac disease BEFREE 19626039
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 35027503 Associate
★☆☆☆☆
Found in Text Mining only
Cutaneous Melanoma Melanoma CLINVAR_DG 26619011
★☆☆☆☆
Found in Text Mining only
Cutaneous Melanoma Melanoma CGI_DG
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 22158480
★☆☆☆☆
Found in Text Mining only