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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CSTF2T
cleavage stimulation factor subunit 2 tau variant
Chromosome 10 · 10q21.1
NCBI Gene: 23283Ensembl: ENSG00000177613.9HGNC: HGNC:17086UniProt: Q9H0L4
70PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingRNA bindingmRNA bindingmRNA cleavage and polyadenylation specificity factor complexdengue diseaselaryngeal carcinomaAbnormality of the skeletal systemrespiratory system neoplasm
✦AI Summary

CSTF2T encodes a tau variant of cleavage stimulation factor subunit 2 (τCstF-64), an RNA-binding protein involved in mRNA polyadenylation 1. The protein plays a significant role in AAUAAA-independent mRNA polyadenylation, particularly in germ cells, by binding directly to pre-mRNAs and participating in mRNA cleavage and polyadenylation 1. CSTF2T also regulates alternative polyadenylation (APA) in cancer contexts, where it mediates proximal poly(A) site usage—for example, promoting aberrant APA of DNM1L to increase colorectal cancer risk 2. In melanoma, CSTF2T binds ZEB1 mRNA to upregulate IGHG1 expression, promoting cell proliferation and invasion 3. The gene is primarily essential for spermatogenesis and male fertility; Cstf2t knockout mice display severe defects in sperm motility and morphology with reduced round spermatids and testosterone levels 4. CSTF2T also influences neurological function, with female Cstf2t-/- mice showing enhanced memory retention and males displaying altered anxiety-related behavior 5. Additionally, CSTF2T functions as an RNA-binding protein in hepatocellular carcinoma pathways and shows associations with cognitive function in breast cancer patients 67. CSTF2T is located at chromosome 10-q23, a region previously associated with male infertility and neurological disorders 1.

Sources cited
1
CSTF2T encodes τCstF-64, a variant polyadenylation protein involved in AAUAAA-independent polyadenylation in germ cells, and maps to chromosome 10q22-q23 near sites of translocation associated with male infertility
PMID: 12408968
2
CSTF2T functions as an RNA-binding protein regulating alternative polyadenylation of DNM1L in colorectal cancer, promoting proximal poly(A) site usage and increasing cancer risk
PMID: 37669142
3
CSTF2T binds ZEB1 mRNA to upregulate IGHG1 expression, promoting melanoma cell proliferation, migration, and invasion
PMID: 36736099
4
Cstf2t knockout mice exhibit severe spermatogenic defects including impaired sperm motility and morphology with reduced testosterone levels, demonstrating CSTF2T's primary role in spermatogenesis
PMID: 21489638
5
CSTF2T plays sex-specific roles in brain function; female Cstf2t-/- mice show enhanced memory retention while males display altered anxiety-related behavior
PMID: 27812195
6
CSTF2T functions as an overlapping RNA-binding protein for lncRNAs in hepatocellular carcinoma
PMID: 38740325
7
CSTF2T region shows differential DNA methylation associated with cognitive function in breast cancer patients
PMID: 40768266
8
CSTF2T was identified as a candidate gene potentially associated with human disease in clinical exome sequencing studies
PMID: 36964972
Disease Associationsⓘ20
dengue diseaseOpen Targets
0.37Weak
laryngeal carcinomaOpen Targets
0.28Weak
Abnormality of the skeletal systemOpen Targets
0.23Weak
respiratory system neoplasmOpen Targets
0.20Weak
smoking initiationOpen Targets
0.19Weak
breast cancerOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.19Weak
peripheral vascular diseaseOpen Targets
0.19Weak
obesityOpen Targets
0.17Weak
urethral syndromeOpen Targets
0.16Weak
Myocardial IschemiaOpen Targets
0.15Weak
azoospermiaOpen Targets
0.12Weak
mathematical abilityOpen Targets
0.12Weak
urethritisOpen Targets
0.11Weak
polymyalgia rheumaticaOpen Targets
0.10Weak
diverticular diseaseOpen Targets
0.10Suggestive
cellulitisOpen Targets
0.09Suggestive
ovarian neoplasmOpen Targets
0.08Suggestive
abscessOpen Targets
0.08Suggestive
placenta praeviaOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RPRD2Shared pathway100%CPSF3Protein interaction99%WDR33Protein interaction98%GTF3C3Protein interaction98%CPSF4Protein interaction95%PCF11Protein interaction95%
Tissue Expression6 tissues
Heart
100%
Brain
91%
Bone Marrow
75%
Ovary
60%
Liver
49%
Lung
46%
Gene Interaction Network
Click a node to explore
CSTF2TRPRD2CPSF3WDR33GTF3C3CPSF4PCF11
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H0L4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.10Tolerant
Observed/Expected LoF0.44 [0.30–0.65]
RankingsWhere CSTF2T stands among ~20K protein-coding genes
  • #6,706of 20,598
    Most Researched70
  • #4,670of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedCSTF2T
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Clinical exome sequencing findings in 1589 patients.
PMID: 36964972
Am J Med Genet A · 2023
1.00
2
The gene CSTF2T, encoding the human variant CstF-64 polyadenylation protein tauCstF-64, lacks introns and may be associated with male sterility.
PMID: 12408968
Genomics · 2002
0.90
3
Genetic Variants That Impact Alternative Polyadenylation in Cancer Represent Candidate Causal Risk Loci.
PMID: 37669142
Cancer Res · 2023
0.80
4
Spermatogenetic but not immunological defects in mice lacking the τCstF-64 polyadenylation protein.
PMID: 21489638
J Reprod Immunol · 2011
0.70
5
CSTF2T up-regulates IGHG1 by binding to ZEB1 to promote melanoma cell proliferation, migration, and invasion.
PMID: 36736099
Tissue Cell · 2023
0.60