Gene Gene information from NCBI Gene database.
Entrez ID 29101
Gene name SSU72 homolog, RNA polymerase II CTD phosphatase
Gene symbol SSU72
Synonyms (NCBI Gene)
HSPC182PNAS-120
Chromosome 1
Chromosome location 1p36.33
miRNA miRNA information provided by mirtarbase database.
227
miRTarBase ID miRNA Experiments Reference
MIRT025930 hsa-miR-7-5p Microarray 19073608
MIRT031949 hsa-miR-16-5p Proteomics 18668040
MIRT447335 hsa-miR-548n PAR-CLIP 20371350
MIRT518417 hsa-miR-548l PAR-CLIP 20371350
MIRT518414 hsa-miR-651-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IEA
GO:0005515 Function Protein binding IPI 20818333, 20861839, 29158257, 32814053
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617680 25016 ENSG00000160075
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NP77
Protein name RNA polymerase II subunit A C-terminal domain phosphatase SSU72 (CTD phosphatase SSU72) (EC 3.1.3.16)
Protein function Protein phosphatase that catalyzes the dephosphorylation of the C-terminal domain of RNA polymerase II. Plays a role in RNA processing and termination. Plays a role in pre-mRNA polyadenylation via its interaction with SYMPK. {ECO:0000269|PubMed:
PDB 3O2Q , 3O2S , 4H3H , 4H3K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04722 Ssu72 6 194 Ssu72-like protein Family
Sequence
Sequence length 194
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mRNA surveillance pathway   RNA polymerase II transcribes snRNA genes
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 Evidence Score
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations