SBK2: SH3 Domain Binding Kinase Family Member 2
A serine/threonine kinase with limited functional characterization, implicated in cancer through COSMIC mutation data.
Gene Information Card
| Symbol | SBK2 |
|---|---|
| Full Name | SH3 Domain Binding Kinase Family Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 646643 ncbi.nlm.nih.gov/gene/646643 |
| Ensembl ID | ENSG00000188385 |
| UniProt ID | Q6ZMP0 |
| OMIM ID | 617196 |
| HGNC ID | 34478 |
| Aliases | SBK, SBK1, FLJ32743 |
Description
SBK2 (SH3 Domain Binding Kinase Family Member 2) is a protein-coding gene located on chromosome 19q13.33. It encodes a serine/threonine kinase that belongs to the SBK family. The protein contains an SH3 domain-binding region and is predicted to be involved in intracellular signaling. Its biological function is not fully characterized, but it is expressed in various tissues and has been identified in cancer mutation databases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Somatic mutations in SBK2 have been cataloged in COSMIC, suggesting potential involvement in oncogenesis. The exact mechanism is unknown. | COSMIC v99 |
| Not associated with specific Mendelian disease | No germline disease associations are reported in OMIM or ClinVar. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Low |
| Brain | 1.8 | Low |
| Lung | 0.9 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 2.1 | Low expression |
| K562 | 1.0 | Low expression |
| HeLa | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.1% | Unknown; observed in COSMIC |
| c.203G>A (p.Arg68His) | Missense | <0.1% | Unknown; observed in COSMIC |
Mutation functional classification
Loss of Function (LOF)
No evidence for loss-of-function mutations in SBK2.
Gain of Function (GOF)
No evidence for gain-of-function mutations in SBK2.
Dominant Negative (DN)
No evidence for dominant-negative mutations in SBK2.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • intracellular signal transduction |
Pathways
• No curated pathways available
Protein Summary
SBK2 encodes a 434-amino acid serine/threonine kinase with a predicted molecular weight of ~48 kDa. The protein contains a kinase domain and an SH3-binding motif. Its exact substrates and cellular roles remain largely unknown, but it is thought to participate in signaling cascades. Expression is low across most tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SBK2 Knockout HEK293 Cell Line | EDJ-KQ15176 | Human | 646643 | Details Get a Quote |
| SBK2 Knockout A-549 Cell Line | EDJ-KQ47960 | Human | 646643 | Details Get a Quote |
| SBK2 Knockout HeLa Cell Line | EDJ-KQ60611 | Human | 646643 | Details Get a Quote |
| SBK2 Knockout HCT 116 Cell Line | EDJ-KQ77434 | Human | 646643 | Details Get a Quote |
