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CPSF2 cleavage and polyadenylation specific factor 2 [ Homo sapiens (human) ]

Gene ID: 53981, updated on 11-Apr-2024

Summary

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Official Symbol
CPSF2provided by HGNC
Official Full Name
cleavage and polyadenylation specific factor 2provided by HGNC
Primary source
HGNC:HGNC:2325
See related
Ensembl:ENSG00000165934 MIM:606028; AllianceGenome:HGNC:2325
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CPSF100
Summary
Predicted to enable RNA binding activity. Involved in mRNA 3'-end processing by stem-loop binding activity and cleavage. Located in membrane. Part of mRNA cleavage and polyadenylation specificity factor complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 13.0), thyroid (RPKM 12.9) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See CPSF2 in Genome Data Viewer
Location:
14q32.12
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (92121969..92172145)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (86351804..86401990)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (92588313..92638489)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903363 Neighboring gene MPRA-validated peak2235 silencer Neighboring gene MPRA-validated peak2236 silencer Neighboring gene ataxin 3 repeat instability region Neighboring gene ataxin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6031 Neighboring gene NANOG hESC enhancer GRCh37_chr14:92566141-92566677 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92572215-92573149 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:92574354-92575164 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:92586481-92587470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8927 Neighboring gene NADH:ubiquinone oxidoreductase subunit B1 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:92624044-92624245 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92673090-92673696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:92673697-92674303 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:92719434-92719934 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:92719935-92720435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8929 Neighboring gene RNA, U6 small nuclear 366, pseudogene Neighboring gene uncharacterized LOC105370627

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Negative Expression of CPSF2 Predicts a Poorer Clinical Outcome in Patients with Papillary Thyroid Carcinoma. Sung TY, et al. Thyroid, 2015 Sep. PMID 26148673
  2. Loss of CPSF2 expression is associated with increased thyroid cancer cellular invasion and cancer stem cell population, and more aggressive disease. Nilubol N, et al. J Clin Endocrinol Metab, 2014 Jul. PMID 24654752, Free PMC Article
  3. Assignment of the 100-kDa subunit of cleavage and polyadenylation specificity factor (CPSF2) to human chromosome 14q31.3 by radiation hybrid mapping. Samiotaki M, et al. Cytogenet Cell Genet, 2000. PMID 11124543
  4. Assembly of a processive messenger RNA polyadenylation complex. Bienroth S, et al. EMBO J, 1993 Feb. PMID 8440247, Free PMC Article
  5. CPEB phosphorylation and cytoplasmic polyadenylation are catalyzed by the kinase IAK1/Eg2 in maturing mouse oocytes. Hodgman R, et al. Development, 2001 Jul. PMID 11526086

See all (115) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CPSF2 may have a role in Papillary Thyroid Carcinoma
    Title: Negative Expression of CPSF2 Predicts a Poorer Clinical Outcome in Patients with Papillary Thyroid Carcinoma.
  2. CPSF2 and SYMPK, are RBFOX2 cofactors for both inclusion and exclusion of internal exons.
    Title: Global Promotion of Alternative Internal Exon Usage by mRNA 3' End Formation Factors.
  3. Decreased CPSF2 expression is associated with increased cellular invasion and cancer stem cell population, and more aggressive disease in papillary thyroid cancer.
    Title: Loss of CPSF2 expression is associated with increased thyroid cancer cellular invasion and cancer stem cell population, and more aggressive disease.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
  5. Conserved residues in CPSF2 and CPSF-73 are required for assembly of the endonuclease activity that cleaves histone pre-mRNAs.
    Title: Conserved motifs in both CPSF73 and CPSF100 are required to assemble the active endonuclease for histone mRNA 3'-end maturation.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
EBI GWAS Catalog
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, cleavage and polyadenylation specific factor 2 (CPSF2), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with CPSF2 is increased by RRE PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1367

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in mRNA 3'-end processing by stem-loop binding and cleavage IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mRNA 3'-end processing by stem-loop binding and cleavage IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
part_of mRNA cleavage and polyadenylation specificity factor complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mRNA cleavage and polyadenylation specificity factor complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cleavage and polyadenylation specificity factor subunit 2
Names
CPSF 100 kDa subunit
CPSF 100kDa subunit
cleavage and polyadenylation specific factor 2, 100kDa
cleavage and polyadenylation specificity factor 100 kDa subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001322270.2 → NP_001309199.1  cleavage and polyadenylation specificity factor subunit 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL121773
    UniProtKB/TrEMBL
    B3KN45
    Conserved Domains (4) summary
    smart01027
    Location:243 → 368
    Beta-Casp; Beta-Casp domain
    cd16293
    Location:7 → 204
    CPSF2-like_MBL-fold; cleavage and polyadenylation specificity factor (CPSF) subunit 2 and related proteins; MBL-fold metallo-hydrolase domain
    pfam13299
    Location:557 → 728
    CPSF100_C; Cleavage and polyadenylation factor 2 C-terminal
    pfam07521
    Location:480 → 540
    RMMBL; Zn-dependent metallo-hydrolase RNA specificity domain

  2. NM_001322271.2 → NP_001309200.1  cleavage and polyadenylation specificity factor subunit 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL121773
    UniProtKB/TrEMBL
    B3KN45
    Conserved Domains (4) summary
    smart01027
    Location:90 → 215
    Beta-Casp; Beta-Casp domain
    pfam07521
    Location:376 → 438
    RMMBL; Zn-dependent metallo-hydrolase RNA specificity domain
    pfam13299
    Location:455 → 626
    CPSF100_C; Cleavage and polyadenylation factor 2 C-terminal
    cl23716
    Location:1 → 51
    metallo-hydrolase-like_MBL-fold; mainly hydrolytic enzymes and related proteins which carry out various biological functions; MBL-fold metallohydrolase domain

  3. NM_001322272.2 → NP_001309201.1  cleavage and polyadenylation specificity factor subunit 2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL121773
    Consensus CDS
    CCDS9902.1
    UniProtKB/Swiss-Prot
    B3KME1, Q6NSJ1, Q9H3W7, Q9P2I0
    UniProtKB/TrEMBL
    B3KN45
    Conserved Domains (4) summary
    smart01027
    Location:243 → 368
    Beta-Casp; Beta-Casp domain
    cd16293
    Location:7 → 204
    CPSF2-like_MBL-fold; cleavage and polyadenylation specificity factor (CPSF) subunit 2 and related proteins; MBL-fold metallo-hydrolase domain
    pfam07521
    Location:529 → 591
    RMMBL; Zn-dependent metallo-hydrolase RNA specificity domain
    pfam13299
    Location:608 → 779
    CPSF100_C; Cleavage and polyadenylation factor 2 C-terminal

  4. NM_017437.3 → NP_059133.1  cleavage and polyadenylation specificity factor subunit 2 isoform 1

    See identical proteins and their annotated locations for NP_059133.1

    Status: VALIDATED

    Source sequence(s)
    AB037788, AL121773, BC060854, BC070095, DB081880
    Consensus CDS
    CCDS9902.1
    UniProtKB/Swiss-Prot
    B3KME1, Q6NSJ1, Q9H3W7, Q9P2I0
    UniProtKB/TrEMBL
    B3KN45
    Related
    ENSP00000298875.4, ENST00000298875.9
    Conserved Domains (4) summary
    smart01027
    Location:243 → 368
    Beta-Casp; Beta-Casp domain
    cd16293
    Location:7 → 204
    CPSF2-like_MBL-fold; cleavage and polyadenylation specificity factor (CPSF) subunit 2 and related proteins; MBL-fold metallo-hydrolase domain
    pfam07521
    Location:529 → 591
    RMMBL; Zn-dependent metallo-hydrolase RNA specificity domain
    pfam13299
    Location:608 → 779
    CPSF100_C; Cleavage and polyadenylation factor 2 C-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    92121969..92172145
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    86351804..86401990
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9P2I0.2 GenPept UniProtKB/Swiss-Prot:Q9P2I0

Gene LinkOut

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