KHDRBS2
KH domain containing, RNA binding, signal transduction associated 2
Gene Information Card
| Symbol | KHDRBS2 |
|---|---|
| Full Name | KH domain containing, RNA binding, signal transduction associated 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q24.3 |
| NCBI Gene ID | 202559 ncbi.nlm.nih.gov/gene/202559 |
| Ensembl ID | ENSG00000112246 |
| UniProt ID | Q5VWQ8 |
| OMIM ID | 616641 |
| HGNC ID | 28556 |
| Aliases | SLM-2, SLM2, Sam68-like mammalian protein 2 |
Description
KHDRBS2 (KH domain containing, RNA binding, signal transduction associated 2) encodes a member of the STAR (signal transduction and activation of RNA) family of RNA-binding proteins. The protein contains a KH domain and is involved in alternative splicing, RNA metabolism, and signal transduction. It is highly expressed in the brain and plays roles in neuronal development and synaptic function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Disruption of RNA splicing and neuronal gene expression | ClinVar |
| Autism spectrum disorder | Altered synaptic protein expression | OMIM |
| Glioblastoma | Dysregulated alternative splicing promoting tumor growth | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.3 | Medium |
| Lung | 3.1 | Low |
| Heart | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal model |
| HEK293 | 4.5 | Embryonic kidney |
| U87MG | 6.8 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.625C>T (p.Arg209Trp) | Missense | <0.01% | Loss of RNA binding |
| c.1021G>A (p.Glu341Lys) | Missense | <0.01% | Altered splicing regulation |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the KH domain impair RNA binding and splicing regulation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA splicing |
| • via spliceosome | • regulation of alternative mRNA splicing |
| • nucleus | • cytoplasm |
Pathways
• Alternative splicing
• mRNA processing
• Signal transduction
Protein Summary
KHDRBS2 is a 346-amino acid RNA-binding protein with a central KH domain. It shuttles between the nucleus and cytoplasm, regulating alternative splicing of pre-mRNAs involved in neuronal differentiation and synaptic plasticity. Post-translational modifications such as tyrosine phosphorylation modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KHDRBS2 Knockout HEK293 Cell Line | EDJ-KQ5244 | Human | 202559 | Details Get a Quote |
| KHDRBS2 Knockout HeLa Cell Line | EDJ-KQ59035 | Human | 202559 | Details Get a Quote |
| KHDRBS2 Knockout A-549 Cell Line | EDJ-KQ67514 | Human | 202559 | Details Get a Quote |
| KHDRBS2 Knockout HCT 116 Cell Line | EDJ-KQ75912 | Human | 202559 | Details Get a Quote |
