SPIN2B
Spindlin Family Member 2B
Gene Information Card
| Symbol | SPIN2B |
|---|---|
| Full Name | spindlin family member 2B |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.21 |
| NCBI Gene ID | 169200 ncbi.nlm.nih.gov/gene/169200 |
| Ensembl ID | ENSG00000184937 |
| UniProt ID | Q9BSH5 |
| OMIM ID | 300897 |
| HGNC ID | 30767 |
| Aliases | SPIN-2B, SPIN2, SPIN2A |
Description
SPIN2B (spindlin family member 2B) is a protein-coding gene located on chromosome Xp11.21. It belongs to the spindlin family, which is involved in cell cycle regulation and chromatin binding. The encoded protein contains a Tudor-like domain and may play a role in transcriptional regulation. SPIN2B is closely related to SPIN2A and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.3 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | Moderate expression |
| HeLa | 9.8 | Low expression |
| K562 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
No documented dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • protein binding |
| • nucleus | • cytoplasm |
Pathways
• No specific pathways curated in Reactome or KEGG for SPIN2B.
Protein Summary
SPIN2B encodes a 262-amino acid protein (UniProt Q9BSH5) containing a Tudor domain. It is predicted to localize to the nucleus and cytoplasm and may function in chromatin remodeling or cell cycle progression. Expression is highest in testis, suggesting a potential role in spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPIN2B Knockout HEK293 Cell Line | EDJ-KQ12196 | Human | 474343 | Details Get a Quote |
| SPIN2B Knockout A-549 Cell Line | EDJ-KQ40922 | Human | 474343 | Details Get a Quote |
| SPIN2B Knockout HCT 116 Cell Line | EDJ-KQ40923 | Human | 474343 | Details Get a Quote |
| SPIN2B Knockout HeLa Cell Line | EDJ-KQ40924 | Human | 474343 | Details Get a Quote |
