Search results:
General Information
| Gene_Symbol | Gene_ID | Gene_Name | Chromosome | Alias |
|---|---|---|---|---|
| SETD2 | 29072 | SET domain containing 2 | 3 | HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A |
- 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 |
|---|---|---|---|---|---|---|
| 24925220 | 2014 | Cell line : - Source : Public database Sample Type : CRC tumor No. of Sample : - Stage : - | Immunohistochemistry | Frameshift Mutation | - | Analyzed the mutations in 76 GCs and 93 CRCs and found SETD1B (38.7% of GC and 35.6% of CRC with high MSI [MSI-H]), SETDB2 (11.1% of CRC with MSI-H), and SETD2 frameshift mutations (6.7% of CRC with MSI-H). |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | Chromatin-modifying enzymes / K-methyltransferases |
| Description | Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008] |
| Chromosome | 3 |
| Location | 3p21.31 |
| Start | 47057898 |
| End | 47205467 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 147570 |
| OMIM ID | 612778 |
| HGNC ID | HGNC:18420 |
| Unigene ID | Hs.517941 |
| Ensembl ID | ENSG00000181555 |
| PharmGKB ID | PA143485612 |
Protein Information
| Protein ID | NP_054878.5 |
|---|---|
| Protein Name | SET domain containing 2 |
| Molecular Wt. (Da) | 0 |
| Protein Sequence | Download Select all |
| Length | 2564 |
| Uniprot ID | Q8IWU5 |
| Ensembl Protein ID | ENSP00000353007 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 624 |
| S | Phosphorylation | 121 |
| S | Phosphorylation | 130 |
| S | Phosphorylation | 131 |
| S | Phosphorylation | 742 |
| S | Phosphorylation | 754 |
| S | Phosphorylation | 239 |
| S | Phosphorylation | 251 |
| S | Phosphorylation | 744 |
| S | Phosphorylation | 241 |
| S | Phosphorylation | 321 |
| S | Phosphorylation | 323 |
| S | Phosphorylation | 1228 |
| S | Phosphorylation | 725 |
| S | Phosphorylation | 1413 |
| S | Phosphorylation | 1415 |
| S | Phosphorylation | 1417 |
| S | Phosphorylation | 910 |
| S | Phosphorylation | 912 |
| S | Phosphorylation | 914 |
| T | Phosphorylation | 1872 |
| T | Phosphorylation | 1369 |
| S | Phosphorylation | 1980 |
| S | Phosphorylation | 1988 |
| S | Phosphorylation | 1992 |
| S | Phosphorylation | 1995 |
| S | Phosphorylation | 1477 |
| S | Phosphorylation | 1485 |
| S | Phosphorylation | 1489 |
| S | Phosphorylation | 1492 |
| S | Phosphorylation | 2080 |
| S | Phosphorylation | 2082 |
| S | Phosphorylation | 614 |
| S | Phosphorylation | 111 |
| S | Phosphorylation | 905 |
| S | Phosphorylation | 402 |
| S | Phosphorylation | 708 |
| S | Phosphorylation | 205 |
| S | Phosphorylation | 532 |
| S | Phosphorylation | 29 |
| S | Phosphorylation | 1084 |
| S | Phosphorylation | 581 |
| T | Phosphorylation | 626 |
| T | Phosphorylation | 123 |
| S | Phosphorylation | 1888 |
| S | Phosphorylation | 1385 |
| S | Phosphorylation | 1952 |
| S | Phosphorylation | 1449 |
| S | Phosphorylation | 1206 |
| S | Phosphorylation | 703 |
| S | Phosphorylation | 654 |
| S | Phosphorylation | 656 |
| S | Phosphorylation | 151 |
| S | Phosphorylation | 153 |
| S | Phosphorylation | 1898 |
| S | Phosphorylation | 1395 |
| S | Phosphorylation | 698 |
| S | Phosphorylation | 701 |
| S | Phosphorylation | 195 |
| S | Phosphorylation | 198 |
| T | Phosphorylation | 1853 |
| T | Phosphorylation | 1350 |
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 |
|---|---|---|---|---|---|
| 3064 | HTT | 883 | NP_002102.4 | in vitro;in vivo;yeast 2-hybrid | 9700202 |
Pathway Information
| Pathway Name | Pathway ID |
|---|---|
| Lysine degradation | hsa00310 |
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00201 | 2392-2422 | WW |
| cl00157 | 2392-2422 | WW superfamily |
| smart00317 | 1550-1673 | SET |
| cl02566 | 1550-1673 | SET superfamily |
| pfam00856 | 1561-1666 | SET |
| pfam08236 | 2465-2559 | SRI |
| cl07026 | 2465-2559 | SRI superfamily |
| smart00570 | 1495-1549 | AWS |
| cl02673 | 1495-1549 | AWS superfamily |
| smart00456 | 2391-2422 | WW |
| pfam00397 | 2391-2420 | WW |
| smart00508 | 1674-1690 | PostSET |
| cl02636 | 1674-1690 | PostSET superfamily |
| COG2940 | 1527-1690 | SET |
| pfam05279 | 1940-2123 | Asp-B-Hydro_N |
| COG5104 | 2395-2436 | PRP40 |
Ontology Information
| HPRD ID | 10427 |
|---|---|
| Molecular Class | DNA binding protein |
| Molecular Function | Protein serine/threonine kinase activity (GO:0004674) |
| Biological Process | Cell communication (GO:0007154); Signal transduction (GO:0007165) |
Drug Information
No matching records could be found.