SPIN3 (Spindlin Family Member 3)
A member of the spindlin gene family involved in chromatin regulation and potential roles in cancer and developmental processes.
Gene Information Card
| Symbol | SPIN3 |
|---|---|
| Full Name | Spindlin Family Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq27.1 |
| NCBI Gene ID | 169270 ncbi.nlm.nih.gov/gene/169270 |
| Ensembl ID | ENSG00000169032 |
| UniProt ID | Q5JUX0 |
| OMIM ID | 300987 |
| HGNC ID | 23483 |
| Aliases | SPIN-3, dJ413H6.1 |
Description
SPIN3 is a protein-coding gene belonging to the spindlin family, which encodes proteins with Tudor-like domains that bind methylated histones and regulate chromatin structure. SPIN3 is located on the X chromosome and is broadly expressed in various tissues. Its function is implicated in transcriptional regulation, cell cycle control, and potentially in cancer development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression may affect chromatin remodeling and gene expression, contributing to oncogenesis. | COSMIC database reports mutations in multiple cancer types. |
| Developmental disorders | X-linked location suggests potential role in X-linked intellectual disability or developmental syndromes. | OMIM entry 300987 notes association with syndromic phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| HeLa | 10.5 | Moderate expression |
| K562 | 7.8 | Low expression |
| A549 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116His) | Missense | <0.1% | Unknown functional impact |
| c.502C>T (p.Arg168Trp) | Missense | <0.1% | Reported in COSMIC for colorectal cancer |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
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)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • DNA binding (GO:0003677) | • histone methyl-lysine binding (GO:0035098) |
Pathways
• Chromatin organization
• Transcriptional regulation
Protein Summary
SPIN3 is a 262-amino acid protein containing three Tudor-like domains that recognize methylated lysine residues on histones, particularly H3K4me3. It localizes to the nucleus and is thought to participate in chromatin-mediated gene regulation. Structural studies suggest it may form dimers and interact with other chromatin-associated factors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPIN3 Knockout HEK293 Cell Line | EDJ-KQ15484 | Human | 169981 | Details Get a Quote |
| SPIN3 Knockout A-549 Cell Line | EDJ-KQ46272 | Human | 169981 | Details Get a Quote |
| SPIN3 Knockout HCT 116 Cell Line | EDJ-KQ46273 | Human | 169981 | Details Get a Quote |
| SPIN3 Knockout HeLa Cell Line | EDJ-KQ46274 | Human | 169981 | Details Get a Quote |
