STMND1 Gene - Stathmin Domain Containing 1
Comprehensive genomic and functional analysis of STMND1
Gene Information Card
| Symbol | STMND1 |
|---|---|
| Full Name | Stathmin Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000204304 |
| UniProt ID | A0A1B0GTV2 |
| OMIM ID | 618637 |
| HGNC ID | 44238 |
| Aliases | C6orf58, dJ1033B10.4 |
Description
STMND1 (Stathmin Domain Containing 1) is a protein-coding gene located on chromosome 6p21.1. The encoded protein contains a stathmin domain, which is typically involved in microtubule dynamics regulation. STMND1 is expressed in various tissues and may play a role in cellular processes such as cell cycle progression and signal transduction. Limited functional data are available; further research is needed to fully elucidate its biological roles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 3.4 | Not detected |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 4.2 | Low expression |
| MCF7 | 6.5 | 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 effect |
| c.45C>T | Synonymous | <0.01% | Likely benign |
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 confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • protein binding |
| • cytoplasm |
Pathways
• Microtubule dynamics
Protein Summary
The STMND1 protein contains a stathmin domain, which is known to regulate microtubule dynamics by sequestering tubulin dimers or promoting catastrophe. The exact function of STMND1 remains poorly characterized, but it is predicted to be involved in cytoskeletal organization and cell cycle regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STMND1 Knockout HEK293 Cell Line | EDJ-KQ11627 | Human | 401236 | Details Get a Quote |
| STMND1 Knockout HeLa Cell Line | EDJ-KQ60291 | Human | 401236 | Details Get a Quote |
| STMND1 Knockout A-549 Cell Line | EDJ-KQ68756 | Human | 401236 | Details Get a Quote |
| STMND1 Knockout HCT 116 Cell Line | EDJ-KQ77122 | Human | 401236 | Details Get a Quote |
