Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| SPG20 | 23111 | spastic paraplegia 20 (Troyer syndrome)  | 13 | KIAA0610, TAHCCP1  |
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
- PPi
- Pathway
- Structural
- Domain
- Ontology
- SNP
- Drug
- External Links
Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 23372428    | 2013 | Cell line : - Source : First Affiliated Hospital of Xi'an Jiaotong University Sample Type : CRC tumor and normal tissue No. of Sample : 96 CRC patients and 30 healthy Stage : - | Methylation-specific PCR | Hypermethylation | - | Hypermethylation in Spastic paraplegia-20 promoter is a highly specific and sensitive biomarker for screening colorectal cancer in stool samples as a noninvasive method. Hypermethylated Spastic paraplegia-20 occurs in 85.4% (82/96) of patients with colorectal cancer in the tissue samples. In the stool samples, the results indicate 80.2% (77/96) sensitivity and 100% (30/30) specificity of the test for detecting colorectal cancer by using the stool samples as a noninvasive method. |
| 21499309    | 2011 | Cell line : - Source : - Sample Type : CRC tumor and normal tissue No. of Sample : 179 colorectal carcinomas (47 MSI; 26% and 132 MSS; 74%), 111 adenomas and 110 normal mucosa samples Stage : TNM Stage I-IV | Methylation-specific PCR,Bisulfite sequencing, RT-PCR, Confocal fluorescence microscopy | Hypermethylation | - | SPG20 promoter hypermethylation as a biomarker suitable for non-invasive detection of colorectal cancer, and a possible mechanism for cytokinesis arrest in colorectal tumorigenesis. SPG20 promoter hypermethylation resulted in loss of mRNA expression in various cancer types and subsequent depletion of Spartin. |
Gene Details

| Gene Type | protein coding |
|---|---|
| Gene Family | |
| Description | This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome).   | Chromosome | 13 |
| Location | 13q13.1 |
| Start | 36301638   |
| End | 36370180   |
| Strand | -   |
| Gene Sequence |    Download   Select all |
| Length | 68543   |
| OMIM ID | 607111    |
| HGNC ID | HGNC:18514    |
| Unigene ID | Hs.440414    |
| Ensembl ID | ENSG00000133104    |
| PharmGKB ID | -    |
mRNA Information
| mRNA ID | NM_001142294.1 |
|---|---|
| Exon | join(1..92,34349..35160,38585..38782,40664..40819, 43483..43606,55760..55954,57704..57862,57946..58036, 65549..68543)   | mRNA Sequence |    Download   Select all |
| Length | 4838   |
CDS Information
| Location | join(34351..35160,38585..38782,40664..40819,43483..43606, 55760..55954,57704..57862,57946..58036,65549..65816) |
|---|---|
| CDS Sequence |    Download   Select all |
| CCDS ID | CCDS9356.1 |    
Protein Information
| Protein ID | NP_001135766.1 |
|---|---|
| Protein Name | spastic paraplegia 20 (Troyer syndrome) |
| Molecular Wt. (Da) | 72702 |
| Protein Sequence |    Download   Select all |
| Length | 666   |
| Uniprot ID | P17275 |    
| Ensembl Protein ID | ENSP00000303315   |    
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 470 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING)      View   
| Interactant Gene ID (Source: HPRD) | Gene Symbol | HPRD ID | Ref Seq ID | Technique | References |
|---|---|---|---|---|---|
| 2060 |    EPS15 |    8968 |    NP_001972.1 |    in vitro;yeast 2-hybrid |    16036216    |
| 7846 |    TUBA1A |    3959 |    NP_006000.2 |    in vitro |    16945107    |
| 9372 |    ZFYVE9 |    4782 |    NP_004790.2 |    yeast 2-hybrid |    15231748    |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Endocytosis |    hsa04144 |    
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd02679 | 16-95  | MIT_spastin |
| cl00299 | 16-95  | MIT superfamily |
| pfam06911 | 427-613  | Senescence |
| cl06118 | 427-613  | Senescence superfamily |
| smart00745 | 16-92  | MIT |
| pfam04212 | 19-95  | MIT |
| cd02656 | 18-104  | MIT |
| pfam10310 | 316-466  | DUF2413 |
| PHA03307 | 109-179  | PHA03307 |
Ontology Information
| HPRD ID | 1414 |    
|---|---|
| Molecular Class | Unclassified |
| Molecular Function | Cell adhesion molecule activity (GO:0005194) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165)   |
Drug Information
No matching records could be found.
External Links
| ArrayExpress | GO |    
|---|---|
| ICGC | GO |    
| Cancer3D | GO |    
| COSMIC | GO |    
| NCG | GO |    
| TSGene | GO |    
| Tumor Gene Family of Databases | GO |    
| CCDB | GO |    
| G2SBC | GO |    
| Osteosarcoma Database | GO |    
| RCDB | GO |    
