CSTF2 cleavage stimulation factor subunit 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CSTF2provided by HGNC
Official Full Name: cleavage stimulation factor subunit 2provided by HGNC
Primary source: HGNC:HGNC:2484
See related: Ensembl:ENSG00000101811 MIM:300907; AllianceGenome:HGNC:2484
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CSTF64; CstF-64; XLID113
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 binds GU-rich elements within the 3'-untranslated region of mRNAs. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in esophagus (RPKM 6.8), testis (RPKM 6.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq22.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (100820391..100841520)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (99262925..99284058)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (100075380..100096509)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CSTF2 mediated mRNA N[6]-methyladenosine modification drives pancreatic ductal adenocarcinoma m[6]A subtypes.
Title: CSTF2 mediated mRNA N(6)-methyladenosine modification drives pancreatic ductal adenocarcinoma m(6)A subtypes.
Alternative polyadenylation writer CSTF2 forms a positive loop with FGF2 to promote tubular epithelial-mesenchymal transition and renal fibrosis.
Title: Alternative polyadenylation writer CSTF2 forms a positive loop with FGF2 to promote tubular epithelial-mesenchymal transition and renal fibrosis.
Cleavage stimulation factor 2 promotes malignant progression of liver hepatocellular carcinoma by activating phosphatidylinositol 3'-kinase/protein kinase B/mammalian target of rapamycin pathway.
Title: Cleavage stimulation factor 2 promotes malignant progression of liver hepatocellular carcinoma by activating phosphatidylinositol 3'-kinase/protein kinase B/mammalian target of rapamycin pathway.
CstF64-Induced Shortening of the BID 3'UTR Promotes Esophageal Squamous Cell Carcinoma Progression by Disrupting ceRNA Cross-talk with ZFP36L2.
Title: CstF64-Induced Shortening of the BID 3'UTR Promotes Esophageal Squamous Cell Carcinoma Progression by Disrupting ceRNA Cross-talk with ZFP36L2.
A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans.
Title: A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans.
CSTF2 exerts critical roles in activation of RAC1 by promoting 3'UTR shortening of RAC1 mRNAs through two transcription elongation factors, AFF1 and AFF4, in urothelial carcinoma of the bladder pathogenesis
Title: CSTF2-Induced Shortening of the RAC1 3'UTR Promotes the Pathogenesis of Urothelial Carcinoma of the Bladder.
Reverse genetics and nuclear magnetic resonance studies of recombinant CstF-64 (RRM-Hinge) and CstF-77 (monkeytail-carboxy-terminal domain) indicate that the last 30 amino acids of CstF-77 increases the stability of the RRM, thus altering the affinity of the complex for RNA. These results provide new insights into the mechanism by which CstF regulates the location of the RNA cleavage site during Cleavage/polyadenylation.
Title: The structural basis of CstF-77 modulation of cleavage and polyadenylation through stimulation of CstF-64 activity.
The findings demonstrate that constitutive Tip110 expression in human cord blood CD34(+) cells is regulated, at least in part, through its interaction with CstF64, recruitment of CstF64 to, and selective usage of two polyadenylation sites within its 3'UTR.
Title: Regulation of Constitutive Tip110 Expression in Human Cord Blood CD34(+) Cells Through Selective Usage of the Proximal and Distal Polyadenylation Sites Within the 3'Untranslated Region.
hnRNP H binds to two specific G-runs in exon 5a of ACHE and activates the distal alternative 3 splice site (ss) between exons 5a and 5b. Furthermore, hnRNP H competes for binding of CstF64 to the overlapping binding sites in exon 5a, and suppresses the selection of a cryptic polyadenylation site, which additionally ensures transcription of the distal 3 ss required for the generation of AChET isoform.
Title: Competitive regulation of alternative splicing and alternative polyadenylation by hnRNP H and CstF64 determines acetylcholinesterase isoforms.
CstF-64 is dispensable for the expression/3'-end processing of Star-PAP target mRNAs.CstF-64 and 3'-UTR cis-element determine Star-PAP specificity for target mRNA selection by excluding poly A polymerase.
Title: CstF-64 and 3'-UTR cis-element determine Star-PAP specificity for target mRNA selection by excluding PAPα.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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

Associated conditions

Description	Tests
Intellectual developmental disorder, x-linked 113 MedGen: C5882666 OMIM: 301116 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Rev	rev	HIV-1 Rev interacting protein, cleavage stimulation factor, subunit 2 (CSTF2), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with CSTF2 is increased by RRE	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G31136 (e-PCR)
- UniSTS:55358

RH1708 (e-PCR)
- UniSTS:59867

DXS8278 (e-PCR)
- UniSTS:33522

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA 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 cellular response to nerve growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in mRNA 3'-end processing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cleavage body	IDA Inferred from Direct Assay more info	PubMed
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 nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: cleavage stimulation factor subunit 2

Names: CF-1 64 kDa subunit; CSTF 64 kDa subunit; cleavage stimulation factor 64 kDa subunit; cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD; cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa

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.

Genomic

NG_015848.1 RefSeqGene

Range

5033..26162

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001306206.2 → NP_001293135.1 cleavage stimulation factor subunit 2 isoform 1

See identical proteins and their annotated locations for NP_001293135.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AI826277, AK095684, AK300600, BX384743, EU616679

Consensus CDS

CCDS78498.1

UniProtKB/TrEMBL

B3V096, E7EWR4

Related

ENSP00000387996.2, ENST00000415585.7

Conserved Domains (5) summary

TIGR01628
Location:4 → 352

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

PRK14718
Location:412 → 469

PRK14718; ribonuclease III; Provisional

cd12671
Location:18 → 92

RRM_CSTF2_CSTF2T; RNA recognition motif in cleavage stimulation factor subunit 2 (CSTF2), cleavage stimulation factor subunit 2 tau variant (CSTF2T) and similar proteins

pfam14304
Location:553 → 593

CSTF_C; Transcription termination and cleavage factor C-terminal

pfam14327
Location:112 → 191

CSTF2_hinge; Hinge domain of cleavage stimulation factor subunit 2
NM_001306209.2 → NP_001293138.1 cleavage stimulation factor subunit 2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.

Source sequence(s)

AI826277, AK300600, BC033135, BX384743

UniProtKB/TrEMBL

B4DUD5

Conserved Domains (4) summary

PRK07764
Location:202 → 419

PRK07764; DNA polymerase III subunits gamma and tau; Validated

cd12671
Location:18 → 92

RRM_CSTF2_CSTF2T; RNA recognition motif in cleavage stimulation factor subunit 2 (CSTF2), cleavage stimulation factor subunit 2 tau variant (CSTF2T) and similar proteins

pfam14304
Location:516 → 556

CSTF_C; Transcription termination and cleavage factor C-terminal

pfam14327
Location:112 → 191

CSTF2_hinge; Hinge domain of cleavage stimulation factor subunit 2
NM_001325.3 → NP_001316.1 cleavage stimulation factor subunit 2 isoform 2

See identical proteins and their annotated locations for NP_001316.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AW016125, M85085, Z83819, Z95327

Consensus CDS

CCDS14473.1

UniProtKB/Swiss-Prot

P33240, Q5H951, Q6LA74, Q8N502

UniProtKB/TrEMBL

B4DUD5

Related

ENSP00000362063.2, ENST00000372972.7

Conserved Domains (5) summary

TIGR01628
Location:5 → 318

PABP-1234; polyadenylate binding protein, human types 1, 2, 3, 4 family

PRK07764
Location:241 → 436

PRK07764; DNA polymerase III subunits gamma and tau; Validated

cd12671
Location:18 → 92

RRM_CSTF2_CSTF2T; RNA recognition motif in cleavage stimulation factor subunit 2 (CSTF2), cleavage stimulation factor subunit 2 tau variant (CSTF2T) and similar proteins

pfam14304
Location:533 → 573

CSTF_C; Transcription termination and cleavage factor C-terminal

pfam14327
Location:112 → 191

CSTF2_hinge; Hinge domain of cleavage stimulation factor subunit 2