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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KHDRBS2
KH RNA binding domain containing, signal transduction associated 2
Chromosome 6 · 6q11.1
NCBI Gene: 202559Ensembl: ENSG00000112232.12HGNC: HGNC:18114UniProt: Q5VWX1
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpoly(A) bindingregulation of alternative mRNA splicing, via spliceosomemRNA bindingAlzheimer diseaseesophageal ulcerGenu valgumGenu varum
✦AI Summary

KHDRBS2 is an RNA-binding protein containing a KH domain embedded within a conserved STAR domain that regulates alternative splicing and mRNA metabolism 1. The protein binds poly(A) and poly(U) homopolymers and modulates splice site selection through direct interaction with RNA sequences, exemplified by concentration-dependent exon inclusion in CD44 pre-mRNA [UniProt]. Phosphorylation by tyrosine kinases (PTK6, FYN) inhibits its RNA-binding and splicing regulatory functions, while phosphorylation by Src during mitosis may facilitate adapter protein function for tyrosine kinase signaling 1. KHDRBS2 exhibits cell-type-specific regulation of neurexin alternative splicing, working synergistically or antagonistically with SAM68 depending on target and context [UniProt]. Clinically, KHDRBS2 demonstrates disease relevance across multiple conditions: in prostate cancer, KHDRBS2 regulates androgen receptor splice variant 7 (AR-V7) expression, a critical factor in castration-resistant prostate cancer progression 2; in glioblastoma, low KHDRBS2 expression correlates with poor prognosis and reduced anti-tumor immune infiltration 3; and it serves as a diagnostic biomarker in nasopharyngeal carcinoma with high discriminatory power (AUC=0.978) 4. Additionally, KHDRBS2 shows genetic associations with Alzheimer's disease through epistatic interactions and with Barrett's esophagus/esophageal adenocarcinoma in males 56, and demonstrates signatures of positive selection in Tibetan high-altitude adaptation 7.

Sources cited
1
KHDRBS2 is an RNA-binding protein with KH domain in STAR domain, tyrosine phosphorylated by Src during mitosis, has Sam68-like characteristics
PMID: 12549823
2
KHDRBS2 regulates AR-V7 expression in prostate cancer and promotes cell proliferation; KHDRBS2 knockdown selectively reduces AR-V7 without affecting full-length AR
PMID: 41417173
3
Low KHDRBS2 expression in glioblastoma correlates with poor prognosis and reduced immune cell infiltration; KHDRBS2 is identified as a potential prognostic biomarker
PMID: 40145456
4
KHDRBS2 is identified as diagnostic biomarker for nasopharyngeal carcinoma with AUC of 0.978 and strong associations with immunomodulators
PMID: 36438903
5
KHDRBS2 (chromosome 6q11.1) shows replicable epistatic association with Alzheimer's disease, with negative correlation of expression with CRYL1 in brain tissues
PMID: 24958192
6
KHDRBS2-MTRNR2L9 variant (rs112894788) at chromosome 6q11.1 shows sex-specific association with Barrett's esophagus and esophageal adenocarcinoma in males
PMID: 32918910
7
KHDRBS2 shows strong signals of positive selection in Tibetan genomes and may account for high-altitude adaptation of cardio-pulmonary functions
PMID: 37055782
8
KHDRBS2 expression is upregulated in lung adenocarcinoma cells following cuproptosis induction by elesclomol-CuCL2
PMID: 36353226
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.36Weak
esophageal ulcerOpen Targets
0.36Weak
Genu valgumOpen Targets
0.32Weak
Genu varumOpen Targets
0.32Weak
diabetes mellitusOpen Targets
0.30Weak
sign or symptomOpen Targets
0.30Weak
sunburnOpen Targets
0.28Weak
cervical carcinomaOpen Targets
0.28Weak
scoliosisOpen Targets
0.28Weak
Varicose veinsOpen Targets
0.27Weak
pneumonitisOpen Targets
0.26Weak
insomniaOpen Targets
0.26Weak
thyroiditisOpen Targets
0.23Weak
esophageal adenocarcinomaOpen Targets
0.22Weak
Barrett's esophagusOpen Targets
0.21Weak
vitreous body diseaseOpen Targets
0.20Weak
frozen shoulderOpen Targets
0.19Weak
post term pregnancyOpen Targets
0.19Weak
smoking initiationOpen Targets
0.19Weak
placental retentionOpen Targets
0.17Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PTK6Protein interaction91%KHDRBS3Protein interaction90%RBMXProtein interaction89%CRYL1Protein interaction82%PRMT1Protein interaction78%HNRNPKProtein interaction72%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
88%
Lung
61%
Ovary
2%
Liver
1%
Heart
0%
Gene Interaction Network
Click a node to explore
KHDRBS2PTK6KHDRBS3RBMXCRYL1PRMT1HNRNPK
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5VWX1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.05Tolerant
Observed/Expected LoF0.51 [0.30–0.88]
RankingsWhere KHDRBS2 stands among ~20K protein-coding genes
  • #10,027of 20,598
    Most Researched41
  • #7,884of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedKHDRBS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Roles of KHDRBS2 and KHDRBS3 in prostate cancer progression and AR-V7 regulation.
PMID: 41417173
Discov Oncol · 2025
1.00
2
Cloning and characterization of a novel human STAR domain containing cDNA KHDRBS2.
PMID: 12549823
Mol Biol Rep · 2002
0.90
3
Genome-wide association interaction analysis for Alzheimer's disease.
PMID: 24958192
Neurobiol Aging · 2014
0.80
4
[Correlation analysis of low expression of LY86-AS1 and KHDRBS2 with immune cell invasion and prognosis in glioblastoma].
PMID: 40145456
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi · 2025
0.70
5
Identification and validation of a novel cuproptosis-related signature as a prognostic model for lung adenocarcinoma.
PMID: 36353226
Front Endocrinol (Lausanne) · 2022
0.60