ID:CPSF2_HUMAN DESCRIPTION: RecName: Full=Cleavage and polyadenylation specificity factor subunit 2; AltName: Full=Cleavage and polyadenylation specificity factor 100 kDa subunit; Short=CPSF 100 kDa subunit; FUNCTION: Component of the cleavage and polyadenylation specificity factor (CPSF) complex that play a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. Involved in the histone 3' end pre-mRNA processing. SUBUNIT: Component of the cleavage and polyadenylation specificity factor (CPSF) complex, composed of CPSF1, CPSF2, CPSF3, CPSF4 and FIP1L1. Interacts with CPSF3, CSTF2 and SYMPK. SUBCELLULAR LOCATION: Nucleus (Potential). SIMILARITY: Belongs to the metallo-beta-lactamase superfamily. RNA-metabolizing metallo-beta-lactamase-like family. CPSF2/YSH1 subfamily.
Cholesterol, LDL Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics.
[PubMed 17903299]
Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
Diabetes Mellitus, Type 2 Mariana Murea et al. American journal of nephrology 2011, Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes., American journal of nephrology.
[PubMed 21546767]
Genetic variation may modify the risk of death on dialysis. SNPs in proximity to genes regulating vascular extracellular matrix, cardiac ventricular repolarization, and smoking cessation are associated with dialysis survival in AAs with T2D. These results warrant replication in other cohorts and races.
Eye Color Patrick Sulem et al. Nature genetics 2007, Genetic determinants of hair, eye and skin pigmentation in Europeans., Nature genetics.
[PubMed 17952075]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9P2I0
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC060854 - Homo sapiens cDNA clone IMAGE:5298171, containing frame-shift errors. AK001912 - Homo sapiens cDNA FLJ11050 fis, clone PLACE1004564, highly similar to Cleavage and polyadenylation specificity factor 100 kDa subunit. BC070095 - Homo sapiens cleavage and polyadenylation specific factor 2, 100kDa, mRNA (cDNA clone MGC:87517 IMAGE:5267724), complete cds. AK001627 - Homo sapiens cDNA FLJ10765 fis, A-NT2RP4000111, highly similar to Cleavage and polyadenylation specificity factor 100 kDa subunit. JD269749 - Sequence 250773 from Patent EP1572962. JD061248 - Sequence 42272 from Patent EP1572962. JD394994 - Sequence 376018 from Patent EP1572962. JD240473 - Sequence 221497 from Patent EP1572962. JD287636 - Sequence 268660 from Patent EP1572962. JD511361 - Sequence 492385 from Patent EP1572962. KJ898964 - Synthetic construct Homo sapiens clone ccsbBroadEn_08358 CPSF2 gene, encodes complete protein. AK023583 - Homo sapiens cDNA FLJ13521 fis, clone PLACE1005876, highly similar to Cleavage and polyadenylation specificity factor 100 kDa subunit. AB037788 - Homo sapiens mRNA for KIAA1367 protein, partial cds. AL442079 - Homo sapiens mRNA; cDNA DKFZp667D133 (from clone DKFZp667D133). JD270231 - Sequence 251255 from Patent EP1572962. JD565932 - Sequence 546956 from Patent EP1572962. JD094388 - Sequence 75412 from Patent EP1572962. JD170714 - Sequence 151738 from Patent EP1572962. JD038397 - Sequence 19421 from Patent EP1572962. JD106754 - Sequence 87778 from Patent EP1572962. JD501464 - Sequence 482488 from Patent EP1572962. JD093434 - Sequence 74458 from Patent EP1572962. JD237415 - Sequence 218439 from Patent EP1572962. JD549166 - Sequence 530190 from Patent EP1572962. JD552155 - Sequence 533179 from Patent EP1572962. JD410768 - Sequence 391792 from Patent EP1572962. JD113093 - Sequence 94117 from Patent EP1572962. JD288644 - Sequence 269668 from Patent EP1572962. JD112570 - Sequence 93594 from Patent EP1572962. JD355446 - Sequence 336470 from Patent EP1572962. JD369091 - Sequence 350115 from Patent EP1572962. JD066423 - Sequence 47447 from Patent EP1572962. JD513602 - Sequence 494626 from Patent EP1572962. JD119370 - Sequence 100394 from Patent EP1572962. JD454165 - Sequence 435189 from Patent EP1572962. JD359573 - Sequence 340597 from Patent EP1572962. JD542847 - Sequence 523871 from Patent EP1572962. JD212857 - Sequence 193881 from Patent EP1572962. JD322338 - Sequence 303362 from Patent EP1572962. JD069934 - Sequence 50958 from Patent EP1572962. JD397253 - Sequence 378277 from Patent EP1572962. JD308120 - Sequence 289144 from Patent EP1572962. JD435417 - Sequence 416441 from Patent EP1572962. JD254595 - Sequence 235619 from Patent EP1572962. JD264489 - Sequence 245513 from Patent EP1572962. JD264490 - Sequence 245514 from Patent EP1572962. JD272884 - Sequence 253908 from Patent EP1572962. JD496362 - Sequence 477386 from Patent EP1572962. JD324066 - Sequence 305090 from Patent EP1572962. JD295287 - Sequence 276311 from Patent EP1572962. JD480776 - Sequence 461800 from Patent EP1572962. JD470491 - Sequence 451515 from Patent EP1572962. JD239853 - Sequence 220877 from Patent EP1572962. JD248635 - Sequence 229659 from Patent EP1572962. JD321638 - Sequence 302662 from Patent EP1572962. JD356465 - Sequence 337489 from Patent EP1572962. JD505948 - Sequence 486972 from Patent EP1572962. JD404009 - Sequence 385033 from Patent EP1572962. JD460186 - Sequence 441210 from Patent EP1572962.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_cpsfPathway - Polyadenylation of mRNA
Reactome (by CSHL, EBI, and GO)
Protein Q9P2I0 (Reactome details) participates in the following event(s):
R-HSA-72231 Cleavage and Polyadenylation R-HSA-77589 Recognition of AAUAAA sequence by CPSF R-HSA-72185 mRNA polyadenylation R-HSA-77594 Docking of the Mature intronless derived transcript derived mRNA, TAP and Aly/Ref at the NPC R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex R-HSA-72180 Cleavage of mRNA at the 3'-end R-HSA-77590 Recruitment of CstF to the CPSF Bound Pre-mRNA R-HSA-77592 Cleavage of Intronless Pre-mRNA at 3'-end R-HSA-77593 Cleavage and polyadenylation of Intronless Pre-mRNA R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage R-HSA-72139 Formation of the active Spliceosomal C (B*) complex R-HSA-8849157 TREX complex binds spliced, capped mRNA:CBC:EJC cotranscriptionally R-HSA-156661 Formation of Exon Junction Complex R-HSA-77591 Binding of Cleavage factors and Poly(A)Polymerase to the CstF:CPSF:Pre-mRNA Complex R-HSA-72163 mRNA Splicing - Major Pathway R-HSA-77595 Processing of Intronless Pre-mRNAs R-HSA-72187 mRNA 3'-end processing R-HSA-159231 Transport of Mature mRNA Derived from an Intronless Transcript R-HSA-109688 Cleavage of Growing Transcript in the Termination Region R-HSA-72172 mRNA Splicing R-HSA-75067 Processing of Capped Intronless Pre-mRNA R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA R-HSA-159234 Transport of Mature mRNAs Derived from Intronless Transcripts R-HSA-73856 RNA Polymerase II Transcription Termination R-HSA-8953854 Metabolism of RNA R-HSA-72202 Transport of Mature Transcript to Cytoplasm R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)
US Server
