SPIN4 Gene
Spindlin Family Member 4
Gene Information Card
| Symbol | SPIN4 |
|---|---|
| Full Name | spindlin family member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq11.1 |
| NCBI Gene ID | 139886 ncbi.nlm.nih.gov/gene/139886 |
| Ensembl ID | ENSG00000102054 |
| UniProt ID | Q56A19 |
| OMIM ID | 300533 |
| HGNC ID | 27881 |
| Aliases | SPIN-4, dJ583P15.4 |
Description
SPIN4 (spindlin family member 4) is a protein-coding gene located on chromosome Xq11.1. It belongs to the spindlin family, characterized by a spindlin-like domain involved in chromatin binding and cell cycle regulation. SPIN4 is thought to play a role in transcriptional regulation and may be implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression; potential role in cell cycle regulation | COSMIC; limited evidence |
| Prostate cancer | Overexpression observed in some studies | COSMIC; limited evidence |
| Intellectual disability (X-linked) | Possible association due to X-chromosome location | OMIM; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 4.5 | Low |
| Lung | 3.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.0 | Moderate expression |
| HeLa | 4.5 | Moderate expression |
| MCF7 | 3.2 | Low expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Unknown functional effect |
| c.412C>T (p.Pro138Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
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)
| • DNA binding (GO:0003677) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • histone binding (GO:0042393) |
Pathways
• Cell cycle (Reactome: R-HSA-1640170)
• Chromatin organization (Reactome: R-HSA-4839726)
Protein Summary
SPIN4 encodes a 249-amino acid protein containing a spindlin-like domain. The protein localizes to the nucleus and cytoplasm, binds histones and DNA, and is implicated in chromatin remodeling and cell cycle progression. Its exact biological function remains under investigation, but it may act as a transcriptional regulator.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPIN4 Knockout HEK293 Cell Line | EDJ-KQ9635 | Human | 139886 | Details Get a Quote |
| SPIN4 Knockout A-549 Cell Line | EDJ-KQ36447 | Human | 139886 | Details Get a Quote |
| SPIN4 Knockout HCT 116 Cell Line | EDJ-KQ36448 | Human | 139886 | Details Get a Quote |
| SPIN4 Knockout HeLa Cell Line | EDJ-KQ36449 | Human | 139886 | Details Get a Quote |
