SPIN2A
Spindlin Family Member 2A
Gene Information Card
| Symbol | SPIN2A |
|---|---|
| Full Name | spindlin family member 2A |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.21 |
| NCBI Gene ID | 54466 ncbi.nlm.nih.gov/gene/54466 |
| Ensembl ID | ENSG00000147133 |
| UniProt ID | Q9H2W1 |
| OMIM ID | 300534 |
| HGNC ID | 11242 |
| Aliases | SPIN-2, SPIN2, dJ413H6.1 |
Description
SPIN2A (spindlin family member 2A) is a protein-coding gene located on chromosome Xp11.21. It encodes a member of the spindlin family, which contains a spindlin-like domain and is involved in cell cycle regulation and chromatin binding. SPIN2A is expressed in various tissues and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect cell cycle progression; SPIN2A is overexpressed in some tumors | COSMIC; literature |
| Developmental disorders | Potential role in X-linked intellectual disability due to chromosomal location | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Lymph node | 6.1 | Low |
| Brain | 4.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 10.5 | Moderate expression |
| K562 | 7.8 | Low expression |
| MCF7 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional impact |
| c.100C>T | synonymous | <0.01% | No effect on protein sequence |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • cell cycle |
| • nucleus | • protein binding |
Pathways
• Cell cycle
• Chromatin organization
Protein Summary
The SPIN2A protein (UniProt Q9H2W1) is 262 amino acids long and contains a spindlin-like domain. It localizes to the nucleus and is involved in chromatin binding and cell cycle regulation. Expression is highest in testis and bone marrow, with lower levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPIN2A Knockout HEK293 Cell Line | EDJ-KQ10745 | Human | 54466 | Details Get a Quote |
| SPIN2A Knockout HeLa Cell Line | EDJ-KQ39667 | Human | 54466 | Details Get a Quote |
| SPIN2A Knockout A-549 Cell Line | EDJ-KQ64914 | Human | 54466 | Details Get a Quote |
| SPIN2A Knockout HCT 116 Cell Line | EDJ-KQ73358 | Human | 54466 | Details Get a Quote |
