KHDRBS3
KH Domain Containing, RNA Binding, Signal Transduction Associated 3
Gene Information Card
| Symbol | KHDRBS3 |
|---|---|
| Full Name | KH Domain Containing, RNA Binding, Signal Transduction Associated 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 10656 ncbi.nlm.nih.gov/gene/10656 |
| Ensembl ID | ENSG00000104497 |
| UniProt ID | Q9Y6M1 |
| OMIM ID | 602489 |
| HGNC ID | 18117 |
| Aliases | SLM-2, SLM2, T-STAR, TSTAR |
Description
KHDRBS3 (KH Domain Containing, RNA Binding, Signal Transduction Associated 3) encodes a member of the SAM68 (KHDRBS1) family of RNA-binding proteins. The protein contains a KH domain that mediates RNA binding and is involved in alternative splicing regulation, RNA metabolism, and signal transduction. KHDRBS3 is predominantly expressed in the brain and testis and has been implicated in neuronal development and spermatogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Altered splicing of target genes; potential tumor suppressor role | PMID: 15601829 |
| Breast cancer | Dysregulated expression affecting cell proliferation | PMID: 21145416 |
| Intellectual disability | De novo missense variants in KHDRBS3 associated with neurodevelopmental phenotypes | ClinVar: RCV001851714 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.9 | Medium |
| Pituitary gland | 6.2 | Low |
| Thyroid | 4.1 | Low |
| Adrenal gland | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.3 | Neuroblastoma cell line |
| NTERA-2 | 10.1 | Embryonal carcinoma |
| HepG2 | 2.4 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Unknown; reported in ClinVar as uncertain significance |
| c.1012G>A (p.Gly338Arg) | Missense | <0.01% | Unknown; reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; loss-of-function variants are rare and not clearly associated with a specific phenotype.
Gain of Function (GOF)
No evidence of gain-of-function mutations in current databases.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • mRNA binding (GO:0003729) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • via spliceosome (GO:0000381) | • signal transduction (GO:0007165) |
Pathways
• Alternative splicing (Reactome: R-HSA-72172)
• mRNA processing (Reactome: R-HSA-72163)
Protein Summary
KHDRBS3 is a 346-amino-acid RNA-binding protein containing a single KH domain. It shuttles between the nucleus and cytoplasm and regulates alternative splicing of pre-mRNAs. The protein is highly expressed in brain and testis, where it plays roles in neuronal differentiation and spermatogenesis. KHDRBS3 interacts with Src family kinases and may modulate signal transduction pathways.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KHDRBS3 Knockout HEK293 Cell Line | EDJ-KQ7120 | Human | 10656 | Details Get a Quote |
| KHDRBS3 Knockout A-549 Cell Line | EDJ-KQ31994 | Human | 10656 | Details Get a Quote |
| KHDRBS3 Knockout HCT 116 Cell Line | EDJ-KQ31995 | Human | 10656 | Details Get a Quote |
| KHDRBS3 Knockout HeLa Cell Line | EDJ-KQ31996 | Human | 10656 | Details Get a Quote |
