SETD2 - SET domain containing 2, histone lysine methyltransferase Gene
Also Known as LLS; HYPB; SET2; HIF-1; HIP-1; KMT3A; HBP231; HSPC069; p231HBP
Species: Homo sapiens
About SETD2
This gene has 26 transcripts (splice variants), 173 orthologues, 19 paralogues and is associated with 152 phenotypes. Ubiquitous expression in bone marrow (RPKM 11.9), testis (RPKM 11.0) and 25 other tissues.
Summary
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]
SETD2 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001349370.3 | NP_001336299.1 | histone-lysine N-methyltransferase SETD2 isoform 2 |
| NM_014159.7 | NP_054878.5 | histone-lysine N-methyltransferase SETD2 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables alpha-tubulin binding |
IDA
IDA: Inferred from direct assay
|
27518565 | GOA |
| enables histone H3K36 methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
23043551 | GOA |
| enables histone H3K36 methyltransferase activity |
IMP
IMP: Inferred from mutant phenotype
|
19141475 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17500595 | GOA |
| enables protein-lysine N-methyltransferase activity |
IDA
IDA: Inferred from direct assay
|
28753426 | GOA |
SETD2 Protein Structure
SET: SET domain (1561 - 1667)
WW: WW domain (2391 - 2420)
SRI: SRI (Set2 Rpb1 interacting) domain (2466 - 2558)
- 0
- 400
- 800
- 1200
- 1600
- 2000
- 2400
- 2564 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
histone-lysine N-methyltransferase SETD2 |
|
SETD2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SETD2 | Q9BYW2 | SMAD3 | Homo sapiens | P84022 | 21988832 | |
|
Intra
|
SETD2 | Q9BYW2 | HTT | Homo sapiens | P42858 | 17500595 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Luscan-Lumish Syndrome |
|
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| Sotos Syndrome |
|
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| Hydrocephalus, Congenital, 1 |
|
|
| Corpus Callosum, Agenesis Of |
|
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| Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Acute Megakaryoblastic Leukemia Without Down Syndrome |
|
|
| Enteropathy-Associated T-Cell Lymphoma |
|
|
| Collecting Duct Carcinoma |
|
|
| Retinal Ischemia |
|
|
| Optic Nerve Glioma |
|
|
| Dandy-Walker Syndrome |
|
|
| Diffuse Glioma, H3 G34 Mutant |
|
|
| Acute Leukemia |
|
|
| Chromophobe Renal Cell Carcinoma |
|
|
| Autism Spectrum Disorder |
|
|
| Lung Cancer |
|
|
| Colorectal Cancer |
|
|
| Kidney Cancer |
|
|
| Autism |
|
|
| Chordoma |
|
|
| Leukemia, Acute Lymphoblastic |
|
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| Paraganglioma |
|
|
| Glioblastoma |
|
|
| Prostate Cancer |
|
|
| Peritoneal Mesothelioma |
|
|
| Pheochromocytoma |
|
|
| Breast Malignant Phyllodes Tumor |
|
|
| Cockayne Syndrome |
|
|
| Hepatosplenic T-Cell Lymphoma |
|
|
| Renal Pelvis Carcinoma |
|
|
| Peritoneum Cancer |
|
|
| Weaver Syndrome |
|
|
| Ovarian Cancer |
|
|
| Renal Cell Carcinoma, Papillary, 1 |
|
|
| Diffuse Midline Glioma, H3 K27m-Mutant |
|
|
| Wolf-Hirschhorn Syndrome |
|
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| Pancreatic Cancer |
|
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| Gastric Cancer |
|
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| Lung Cancer Susceptibility 3 |
|
|
| Squamous Cell Carcinoma, Head And Neck |
|
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| Thrombocytopenia |
|
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| Breast Cancer |
|
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| Leukemia, Acute Myeloid |
|
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