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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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U2AF1L4
U2 small nuclear RNA auxiliary factor 1 like 4
Chromosome 19 · 19q13.12
NCBI Gene: 199746Ensembl: ENSG00000161265.15HGNC: HGNC:23020UniProt: Q8WU68
29PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mRNA splicing, via spliceosomepre-mRNA 3'-splice site bindingspliceosomal complexU2AF complexdengue diseasemathematical abilityAbnormality of refractionEczematoid dermatitis
✦AI Summary

U2AF1L4 is an RNA-binding protein that functions as a pre-mRNA splicing factor, playing critical roles in both constitutive and alternative splicing processes. The protein enhances accurate 3'-splice site selection by facilitating protein-protein and protein-RNA interactions, particularly by enhancing U2AF2 binding to weak pyrimidine tracts 1. U2AF1L4 specifically participates in alternative splicing regulation, notably activating exon 5 skipping of PTPRC during T-cell activation, an event that can be reversed by GFI1 23. The gene shows coordinated expression with PSENEN through a genuine bidirectional promoter, suggesting their concerted transcription may be necessary for T-cell activity regulation 1. U2AF1L4 expression is regulated by various cytokines including IL-2, IL-7, and IL-15, which have opposite effects on its expression in T cells at different differentiation stages 3. Additionally, human chorionic gonadotropin stimulates U2AF1L4 expression, promoting memory T cell differentiation by increasing CD45R0 expression 2. Recent studies have identified U2AF1L4 as a potential susceptibility risk locus for COVID-19 in South Asian populations and as a hub gene in bicalutamide resistance networks in prostate cancer 45.

Sources cited
1
U2AF1L4 and PSENEN genes are regulated by a genuine bidirectional promoter and their concerted transcription may be necessary for T-cell activity regulation
PMID: 23246698
2
Human chorionic gonadotropin stimulates U2AF1L4 expression and promotes memory T cell differentiation
PMID: 29100035
3
IL-2, IL-7, and IL-15 cytokines have opposite effects on U2AF1L4 expression in T cells at different differentiation stages
PMID: 26085358
4
U2AF1L4 identified as a key susceptibility risk locus for COVID-19 in South Asian populations
PMID: 39701775
5
U2AF1L4 identified as a hub gene in bicalutamide resistance-related gene modules in prostate cancer
PMID: 37143720
Disease Associationsⓘ20
dengue diseaseOpen Targets
0.37Weak
mathematical abilityOpen Targets
0.09Suggestive
Abnormality of refractionOpen Targets
0.08Suggestive
dermatitisOpen Targets
0.04Suggestive
Eczematoid dermatitisOpen Targets
0.04Suggestive
kidney cancerOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.00Suggestive
Charcot-Marie-Tooth diseaseOpen Targets
0.00Suggestive
DiarrheaOpen Targets
0.00Suggestive
ImmunodeficiencyOpen Targets
0.00Suggestive
inherited retinal dystrophyOpen Targets
0.00Suggestive
nemaline myopathyOpen Targets
0.00Suggestive
nephronophthisisOpen Targets
0.00Suggestive
nephrotic syndromeOpen Targets
0.00Suggestive
non-syndromic intellectual disabilityOpen Targets
0.00Suggestive
rheumatoid arthritisOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
COVID-19Open Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FRG1Shared pathway100%MFAP1Shared pathway100%PLRG1Shared pathway100%RBM10Shared pathway100%BUD31Shared pathway100%CIRSRShared pathway100%
Tissue Expression6 tissues
Liver
100%
Lung
80%
Ovary
78%
Bone Marrow
71%
Heart
34%
Brain
26%
Gene Interaction Network
Click a node to explore
U2AF1L4FRG1MFAP1PLRG1RBM10BUD31CIRSR
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WU68
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.30LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.65–1.30]
RankingsWhere U2AF1L4 stands among ~20K protein-coding genes
  • #12,270of 20,598
    Most Researched29
  • #13,735of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedU2AF1L4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of bicalutamide resistance-related genes and prognosis prediction in patients with prostate cancer.
PMID: 37143720
Front Endocrinol (Lausanne) · 2023
1.00
2
Human PSENEN and U2AF1L4 genes are concertedly regulated by a genuine bidirectional promoter.
PMID: 23246698
Gene · 2013
0.90
3
Functional dissection of an enhancer-like element located within the second intron of the human U2AF1L4 gene.
PMID: 22022969
Biochemistry (Mosc) · 2011
0.80
4
The role of human chorionic gonadotropin in regulation of naïve and memory T cells activity in vitro.
PMID: 29100035
Int Immunopharmacol · 2018
0.70
5
Isolation and mapping of human homologues of an imprinted mouse gene U2af1-rs1.
PMID: 8586425
Genomics · 1995
0.60