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 binds GU-rich elements within the 3'-untranslated region of mRNAs. [provided by RefSeq, Jul 2008] See more...

Aliases for CSTF2 Gene

Aliases for CSTF2 Gene

  • Cleavage Stimulation Factor Subunit 2 2 3 4 5
  • CstF-64 2 3 4
  • Cleavage Stimulation Factor, 3' Pre-RNA, Subunit 2, 64kD 2 3
  • Cleavage Stimulation Factor 64 KDa Subunit 3 4
  • CF-1 64 KDa Subunit 3 4
  • CSTF 64 KDa Subunit 3 4
  • Cleavage Stimulation Factor, 3' Pre-RNA, Subunit 2, 64kDa 3
  • Cleavage Stimulation Factor, 3' Pre-RNA, Subunit 2 2
  • BetaCstF-64 Variant 2 3
  • CSTF2 5

External Ids for CSTF2 Gene

Previous GeneCards Identifiers for CSTF2 Gene

  • GC0XP095357
  • GC0XP097036
  • GC0XP098111
  • GC0XP098847
  • GC0XP099881
  • GC0XP100075
  • GC0XP089874

Summaries for CSTF2 Gene

Entrez Gene Summary for CSTF2 Gene

  • 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 binds GU-rich elements within the 3'-untranslated region of mRNAs. [provided by RefSeq, Jul 2008]

GeneCards Summary for CSTF2 Gene

CSTF2 (Cleavage Stimulation Factor Subunit 2) is a Protein Coding gene. Diseases associated with CSTF2 include Oculopharyngeal Muscular Dystrophy. Among its related pathways are Processing of Capped Intronless Pre-mRNA and Tat-mediated elongation of the HIV-1 transcript. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is CSTF2T.

UniProtKB/Swiss-Prot Summary for CSTF2 Gene

  • 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 (By similarity).

Gene Wiki entry for CSTF2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CSTF2 Gene

Genomics for CSTF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CSTF2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ100819 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.1 142 2.6 MYC POLR2A YY1 KLF11 SMAD5 ELK1 ETS1 BHLHE40 MBD2 TBP CSTF2 NONHSAG054957.2 piR-38580-416 piR-40769 SYTL4 NOX1 RF00017-7963
GH0XJ100642 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 -173.3 -173346 8.9 ZNF600 JUND ATF2 CEBPA ATF3 NFIC YY1 CEBPB EP300 THAP11 SRPX2 SYTL4 TSPAN6 ARMCX4 CSTF2 PPIAP90 PCDH19 HSALNG0139159 lnc-TSPAN6-1 RF00017-7963
GH0XJ100662 Enhancer 0.2 Ensembl 12.9 -157.4 -157358 0.4 CSTF2 RF00017-7963 piR-42491-244 HSALNG0139159 SRPX2 SYTL4
GH0XJ100829 Enhancer 0.7 Ensembl ENCODE 0.4 +9.7 9742 2.2 EBF1 RAD21 MTA3 JUNB PKNOX1 POLR2A ETV6 CEBPB SYTL4 NOX1 lnc-ARL13A-4 CSTF2 ENSG00000202231 NONHSAG054957.2 RF00017-7963
GH0XJ100812 Enhancer 0.6 Ensembl ENCODE 0.4 -7.7 -7658 1.4 ZNF316 NFE2 MAFG EMSY piR-53029-137 SYTL4 ENSG00000275320 HSALNG0139170 CSTF2 RF00017-7963
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSTF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CSTF2

Top Transcription factor binding sites by QIAGEN in the CSTF2 gene promoter:
  • AML1a
  • C/EBPalpha
  • Cart-1
  • LCR-F1
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox5
  • ZIC2

Genomic Locations for CSTF2 Gene

Latest Assembly
chrX:100,820,359-100,843,534
(GRCh38/hg38)
Size:
23,176 bases
Orientation:
Plus strand

Previous Assembly
chrX:100,075,380-100,096,509
(GRCh37/hg19 by Entrez Gene)
Size:
21,130 bases
Orientation:
Plus strand

chrX:100,075,384-100,095,921
(GRCh37/hg19 by Ensembl)
Size:
20,538 bases
Orientation:
Plus strand

Genomic View for CSTF2 Gene

Genes around CSTF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSTF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSTF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSTF2 Gene

Proteins for CSTF2 Gene

  • Protein details for CSTF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P33240-CSTF2_HUMAN
    Recommended name:
    Cleavage stimulation factor subunit 2
    Protein Accession:
    P33240
    Secondary Accessions:
    • Q5H951
    • Q6LA74
    • Q8N502

    Protein attributes for CSTF2 Gene

    Size:
    577 amino acids
    Molecular mass:
    60959 Da
    Quaternary structure:
    • The CSTF complex is composed of CSTF1 (50 kDa subunit), CSTF2 (64 kDa subunit) and CSTF3 (77 kDa subunit). CSTF2 directly interacts with CSTF3, SYMPK and RPO2TC1. Interacts with HSF1 in heat-stressed cells. Interacts with CPSF2, CPSF3 and FIP1L1. Interacts with DDX1.

    Three dimensional structures from OCA and Proteopedia for CSTF2 Gene

    Alternative splice isoforms for CSTF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSTF2 Gene

Post-translational modifications for CSTF2 Gene

  • Ubiquitination at Lys148, Lys189, and Lys572
  • Modification sites at PhosphoSitePlus

Other Protein References for CSTF2 Gene

No data available for DME Specific Peptides for CSTF2 Gene

Domains & Families for CSTF2 Gene

Gene Families for CSTF2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CSTF2 Gene

InterPro:
Blocks:
  • RNA-binding region RNP-1 (RNA recognition motif)

Suggested Antigen Peptide Sequences for CSTF2 Gene

GenScript: Design optimal peptide antigens:
  • BetaCstF-64 variant 2 (B3V096_HUMAN)
  • cDNA FLJ58787, highly similar to Cleavage stimulation factor 64 kDa subunit (B4DUD5_HUMAN)
  • Cleavage stimulation factor 64 kDa subunit (CSTF2_HUMAN)
genes like me logo Genes that share domains with CSTF2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CSTF2 Gene

Function for CSTF2 Gene

Molecular function for CSTF2 Gene

UniProtKB/Swiss-Prot 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 (By similarity).
UniProtKB/Swiss-Prot Induction:
Up-regulated during the G0 to S phase transition.
GENATLAS Biochemistry:
cleavage stimulation factor,subunit 2,component of the 3' pre RNA polyadenylation

Gene Ontology (GO) - Molecular Function for CSTF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding IEA,IDA 1741396
GO:0003729 mRNA binding IBA 21873635
GO:0005515 protein binding IPI 10477523
genes like me logo Genes that share ontologies with CSTF2: view
genes like me logo Genes that share phenotypes with CSTF2: view

miRNA for CSTF2 Gene

miRTarBase miRNAs that target CSTF2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSTF2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CSTF2 Gene

Localization for CSTF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSTF2 Gene

Nucleus. Note=Localized with DDX1 in cleavage bodies.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CSTF2 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CSTF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,TAS --
GO:0005847 mRNA cleavage and polyadenylation specificity factor complex IEA,IDA 18305108
GO:0016604 nuclear body IDA --
GO:0071920 cleavage body IDA 11598190
genes like me logo Genes that share ontologies with CSTF2: view

Pathways & Interactions for CSTF2 Gene

genes like me logo Genes that share pathways with CSTF2: view

Pathways by source for CSTF2 Gene

1 KEGG pathway for CSTF2 Gene
1 Qiagen pathway for CSTF2 Gene
  • Epithelial Tight Junctions

Gene Ontology (GO) - Biological Process for CSTF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006369 termination of RNA polymerase II transcription TAS --
GO:0006378 mRNA polyadenylation IEA --
GO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation TAS --
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with CSTF2: view

No data available for SIGNOR curated interactions for CSTF2 Gene

Drugs & Compounds for CSTF2 Gene

No Compound Related Data Available

Transcripts for CSTF2 Gene

mRNA/cDNA for CSTF2 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CSTF2

Alternative Splicing Database (ASD) splice patterns (SP) for CSTF2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: -
SP5:
SP6: - - - - - - - -
SP7: -

Relevant External Links for CSTF2 Gene

GeneLoc Exon Structure for
CSTF2

Expression for CSTF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CSTF2 Gene

Protein differential expression in normal tissues from HIPED for CSTF2 Gene

This gene is overexpressed in Liver (48.3) and Peripheral blood mononuclear cells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CSTF2 Gene



Protein tissue co-expression partners for CSTF2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CSTF2

SOURCE GeneReport for Unigene cluster for CSTF2 Gene:

Hs.132370

Evidence on tissue expression from TISSUES for CSTF2 Gene

  • Kidney(4.4)
  • Skin(2.5)
  • Nervous system(2.4)
genes like me logo Genes that share expression patterns with CSTF2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CSTF2 Gene

Orthologs for CSTF2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CSTF2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CSTF2 29 30
  • 99.94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CSTF2 29 30
  • 92.72 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CSTF2 29 30
  • 92.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cstf2 29
  • 90.44 (n)
Mouse
(Mus musculus)
Mammalia Cstf2 29 16 30
  • 89.49 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 81 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 73 (a)
OneToMany
Chicken
(Gallus gallus)
Aves CSTF2 29 30
  • 74.46 (n)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cstf2 29
  • 71.84 (n)
Str.5893 29
Zebrafish
(Danio rerio)
Actinopterygii LOC100534697 29
  • 70.76 (n)
cstf2 30 30
  • 69 (a)
ManyToMany
wufb11e07 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7345 29
Fruit Fly
(Drosophila melanogaster)
Insecta CstF-64 30 31
  • 53 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cpf-2 30
  • 41 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IST3 30
  • 22 (a)
OneToMany
RIE1 32
Rice
(Oryza sativa)
Liliopsida Os.21809 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 47 (a)
OneToMany
Species where no ortholog for CSTF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CSTF2 Gene

ENSEMBL:
Gene Tree for CSTF2 (if available)
TreeFam:
Gene Tree for CSTF2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CSTF2: view image
Alliance of Genome Resources:
Additional Orthologs for CSTF2

Paralogs for CSTF2 Gene

Paralogs for CSTF2 Gene

(8) SIMAP similar genes for CSTF2 Gene using alignment to 4 proteins:

  • CSTF2_HUMAN
  • B3V096_HUMAN
  • E7EWR4_HUMAN
  • E9PID8_HUMAN
genes like me logo Genes that share paralogs with CSTF2: view

Variants for CSTF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CSTF2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs113777015 Benign: not provided 100,823,876(+) A/G
NM_001306206.1(CSTF2):c.445-10A>G
INTRON
rs61741775 Benign: not provided 100,832,842(+) C/T
NM_001306206.1(CSTF2):c.1200C>T (p.Pro400=)
SYNONYMOUS
rs766161610 Likely Benign: not provided 100,822,260(+) C/T
NM_001306206.1(CSTF2):c.147C>T (p.Tyr49=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CSTF2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CSTF2 Gene

Variant ID Type Subtype PubMed ID
nsv510850 CNV deletion 20534489

Variation tolerance for CSTF2 Gene

Residual Variation Intolerance Score: 28.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSTF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSTF2
Leiden Open Variation Database (LOVD)
CSTF2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSTF2 Gene

Disorders for CSTF2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CSTF2 Gene - From: COP

Disorder Aliases PubMed IDs
oculopharyngeal muscular dystrophy
  • opmd
- elite association - COSMIC cancer census association via MalaCards
Search CSTF2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CSTF2

genes like me logo Genes that share disorders with CSTF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CSTF2 Gene

Publications for CSTF2 Gene

  1. Evolutionarily conserved interaction between CstF-64 and PC4 links transcription, polyadenylation, and termination. (PMID: 11389848) Calvo O … Manley JL (Molecular cell 2001) 3 4 22
  2. Association of human DEAD box protein DDX1 with a cleavage stimulation factor involved in 3'-end processing of pre-MRNA. (PMID: 11598190) Bléoo S … Godbout R (Molecular biology of the cell 2001) 3 4 22
  3. Complex protein interactions within the human polyadenylation machinery identify a novel component. (PMID: 10669729) Takagaki Y … Manley JL (Molecular and cellular biology 2000) 3 4 22
  4. Increase in the 64-kDa subunit of the polyadenylation/cleavage stimulatory factor during the G0 to S phase transition. (PMID: 9736695) Martincic K … Milcarek C (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 22
  5. RNA recognition by the human polyadenylation factor CstF. (PMID: 9199325) Takagaki Y … Manley JL (Molecular and cellular biology 1997) 3 4 22

Products for CSTF2 Gene

Sources for CSTF2 Gene