CSTF2T cleavage stimulation factor subunit 2 tau variant [Homo sapiens (human)] - Gene

Summary

Official Symbol: CSTF2Tprovided by HGNC
Official Full Name: cleavage stimulation factor subunit 2 tau variantprovided by HGNC
Primary source: HGNC:HGNC:17086
See related: Ensembl:ENSG00000177613 MIM:611968; AllianceGenome:HGNC:17086
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: CstF-64T
Summary: Enables RNA binding activity. Predicted to be involved in pre-mRNA cleavage required for polyadenylation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: 10q21.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (51695486..51699595, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (52544505..52548614, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (53455246..53459355, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CSTF2T up-regulates IGHG1 by binding to ZEB1 to promote melanoma cell proliferation, migration, and invasion.
Title: CSTF2T up-regulates IGHG1 by binding to ZEB1 to promote melanoma cell proliferation, migration, and invasion.
CSTF2tau binds many previously not recognized RNAs including histone, snoRNA and snRNAs. CSTF2tau-binding is associated with internal oligoadenylation resulting in shortened snRNA isoforms subjected to rapid degradation. CSTF2tau controls the abundance of snRNAs resulting in alternative splicing of several RNAs with critical roles in tumorigenesis and cardiac function.
Title: sCLIP-an integrated platform to study RNA-protein interactomes in biomedical research: identification of CSTF2tau in alternative processing of small nuclear RNAs.
CstF64 and CstF64tau modulate one another's expression and play overlapping as well as distinct roles in regulating global alternative polyadenylation profiles.
Title: Overlapping and distinct functions of CstF64 and CstF64τ in mammalian mRNA 3' processing.
Studied expression levels of CstF-64 in EV71-infected cells; showed reduction of CstF-64 during virus infection correlated with production of viral 3C(pro). CstF-64 was cleaved in vitro by 3C(pro) not by mutant 3C(pro) variants.
Title: Enterovirus 71 3C protease cleaves a novel target CstF-64 and inhibits cellular polyadenylation.
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
upstream element in human papillomavirus type 16 interacted specifically with CstF-64, hnRNP C1/C2 & polypyrimidine tract binding protein, suggesting these factors were enhancing or regulating polyadenylation at the HPV-16 early polyadenylation signal
Title: A 57-nucleotide upstream early polyadenylation element in human papillomavirus type 16 interacts with hFip1, CstF-64, hnRNP C1/C2, and polypyrimidine tract binding protein.
Radiation hybrid mapping places the human tauCstF-64 gene at 10q22-q23, which is the site of a translocation that has been associated with human neurological problems and male infertility.
Title: The gene CSTF2T, encoding the human variant CstF-64 polyadenylation protein tauCstF-64, lacks introns and may be associated with male sterility.
structure of the RNA-binding domain of CstF-64 containing an RNA recognition motif (RRM) augmented by N- and C-terminal helices
Title: Recognition of GU-rich polyadenylation regulatory elements by human CstF-64 protein.

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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
Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-81463 (e-PCR)
- UniSTS:103217

D10S248E (e-PCR)
- UniSTS:472988

WI-15606 (e-PCR)
- UniSTS:77546

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA 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 mRNA 3'-end processing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
part_of mRNA cleavage and polyadenylation specificity factor complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cleavage stimulation factor subunit 2 tau variant

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

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)

NM_015235.3 → NP_056050.1 cleavage stimulation factor subunit 2 tau variant

See identical proteins and their annotated locations for NP_056050.1

Status: VALIDATED

Source sequence(s)

AB014589, AL136747, BI962669, BU743103, BX455090

Consensus CDS

CCDS7245.1

UniProtKB/Swiss-Prot

B2RAR9, O75174, Q53HK6, Q7LGE8, Q8N6T1, Q9H0L4

Related

ENSP00000332444.4, ENST00000331173.6

Conserved Domains (4) summary

COG0724
Location:16 → 109

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

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:572 → 612

CSTF_C; Transcription termination and cleavage factor C-terminal

pfam14327
Location:113 → 191

CSTF2_hinge; Hinge domain of cleavage stimulation factor subunit 2