CSTF2 (cleavage stimulation factor subunit 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1478
Gene name Cleavage stimulation factor subunit 2
Gene symbol CSTF2
Synonyms (NCBI Gene)
CSTF64CstF-64XLID113
Chromosome X
Chromosome location Xq22.1
Summary This gene encodes a nuclear protein with an RRM (RNA recognition motif) domain. The protein is a member of the cleavage stimulation factor (CSTF) complex that is involved in the 3` end cleavage and polyadenylation of pre-mRNAs. Specifically, this protein
miRNA miRNA information provided by mirtarbase database.
440
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (440)
miRTarBase ID miRNA Experiments Reference
MIRT019784 hsa-miR-375 Microarray 20215506
MIRT045489 hsa-miR-149-5p CLASH 23622248
MIRT482992 hsa-miR-4695-5p PAR-CLIP 20371350
MIRT482997 hsa-miR-4285 PAR-CLIP 20371350
MIRT486920 hsa-miR-539-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IDA 1741396
GO:0003723 Function RNA binding IEA
GO:0003729 Function MRNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300907 2484 ENSG00000101811
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P33240
Protein name Cleavage stimulation factor subunit 2 (CF-1 64 kDa subunit) (Cleavage stimulation factor 64 kDa subunit) (CSTF 64 kDa subunit) (CstF-64)
Protein function One of the multiple factors required for polyadenylation and 3'-end cleavage of mammalian pre-mRNAs. This subunit is directly involved in the binding to pre-mRNAs.
PDB 1P1T , 2J8P , 6Q2I , 6TZE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 18 → 88 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF14327 CSTF2_hinge 112 → 191 Hinge domain of cleavage stimulation factor subunit 2 Family
PF14304 CSTF_C 533 → 573 Transcription termination and cleavage factor C-terminal Domain
Sequence 
MAGLTVRDPAVDRSLRSVFVGNIPYEATEEQLKDIFSEVGPVVSFRLVYDRETGKPKGYG
FCEYQDQETALSAMRNLNGREFSGRALRVDNAASEKNKEELKSLGTGAPVIESPYGETIS
PEDAPESISKAVASLPPEQMFELMKQMKLCVQNSPQEARNMLLQNPQLAYALLQAQVVMR
IVDPEIALKILHRQTNIPTLIAGNPQPVHGAGPGSGSNVSMNQQNPQAPQAQSLGGMHVN
GAPPLMQASMQGGVPAPGQMPAAVTGPGPGSLAPGGGMQAQVGMPGSGPVSMERGQVPMQ
DPRAAMQRGSLPANVPTPRGLLGDAPNDPRGGTLLSVTGEVEPRGYLGPPHQGPPMHHVP
GHESRGPPPHELRGGPLPEPRPLMAEPRGPMLDQRGPPLDGRGGRDPRGIDARGMEARAM
EARGLDARGLEARAMEARAMEARAMEARAMEARAMEVRGMEARGMDTRGPVPGPRGPIPS
GMQGPSPINMGAVVPQGSRQVPVMQGTGMQGASIQGGSQPGGFSPGQNQVTPQDHEKAAL
IMQVLQLTADQIAMLPPEQRQSILILKEQIQKSTGAP
Sequence length 577
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  mRNA surveillance pathway   tRNA processing in the nucleus
mRNA Splicing - Major Pathway
mRNA 3'-end processing
RNA Polymerase II Transcription Termination
Processing of Intronless Pre-mRNAs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual developmental disorder, X-linked 113 Pathogenic rs2521630196 RCV003494581
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (2)
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
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 95 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (10)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 28637868
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 35412944
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Associate 31391087
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Associate 35111149, 37816727
★★★★★
★☆☆☆☆
Found in Text Mining only
Fibrosis Associate 36113752
★★★★★
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Stimulate 36113752
★★★★★
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Associate 31391087
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 25409906, 31391087
★★★★★
★☆☆☆☆
Found in Text Mining only
Ureteral Obstruction Associate 36113752
★★★★★
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Associate 28320388
★★★★★
★☆☆☆☆
Found in Text Mining only