PRDM2 - PR/SET domain 2 Gene
Also Known as RIZ; KMT8; RIZ1; RIZ2; KMT8A; MTB-ZF; HUMHOXY1
生物種: Homo sapiens
About PRDM2
This gene has 14 transcripts (splice variants), 212 orthologues, 51 paralogues and is associated with 96 phenotypes. Ubiquitous expression in bone marrow (RPKM 10.7), ovary (RPKM 8.6) and 25 other tissues.
Summary
This tumor suppressor gene is a member of a nuclear histone/protein methyltransferase superfamily. It encodes a Zinc Finger Protein that can bind to retinoblastoma protein, Estrogen Receptor, and the TPA-responsive element (MTE) of the heme-oxygenase-1 gene. Although the functions of this protein have not been fully characterized, it may (1) play a role in transcriptional regulation during neuronal differentiation and pathogenesis of retinoblastoma, (2) act as a transcriptional activator of the heme-oxygenase-1 gene, and (3) be a specific effector of estrogen action. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PRDM2 Products (7)
| mRNA | Protein | Name |
|---|---|---|
| NM_001007257.3 | NP_001007258.1 | PR domain zinc finger protein 2 isoform c |
| NM_001135610.2 | NP_001129082.1 | PR domain zinc finger protein 2 isoform d |
| NM_001393986.1 | NP_001380915.1 | PR domain zinc finger protein 2 isoform a |
| NM_001393987.1 | NP_001380916.1 | PR domain zinc finger protein 2 isoform e |
| NM_001393988.1 | NP_001380917.1 | PR domain zinc finger protein 2 isoform c |
| NM_012231.5 | NP_036363.2 | PR domain zinc finger protein 2 isoform a |
| NM_015866.6 | NP_056950.2 | PR domain zinc finger protein 2 isoform b |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables DNA-binding transcription activator activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
8654390 | GOA |
| enables DNA-binding transcription activator activity, RNA polymerase II-specific |
IMP
IMP: Inferred from mutant phenotype
|
8654390 | GOA |
| enables DNA-binding transcription repressor activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
9334209 | GOA |
| enables RNA polymerase II transcription regulatory region sequence-specific DNA binding |
IMP
IMP: Inferred from mutant phenotype
|
8654390 | GOA |
| enables sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
9334209 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in negative regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
9334209 | GOA |
| involved in positive regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
8654390 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
11544182 | GOA |
PRDM2 Protein Structure
SET: SET domain (93 - 141)
zf-C2H2_4: C2H2-type zinc finger (360 - 382)
zf-C2H2: Zinc finger, C2H2 type (390 - 412)
zf-C2H2_4: C2H2-type zinc finger (483 - 506)
zf-C2H2_4: C2H2-type zinc finger (1134 - 1156)
zf-C2H2_4: C2H2-type zinc finger (1191 - 1214)
zf-C2H2_4: C2H2-type zinc finger (1455 - 1473)
- 0
- 300
- 600
- 900
- 1200
- 1500
- 1718 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
PR domain zinc finger protein 2 |
|
Recombinant PRDM2 Proteins
| 製品番号 | 製品名 | アクセッション番号 | 純度 |
|---|---|---|---|
| HY-P76579 | RIZ1 Protein, Human | Q13029 (M1-A200) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P76580 | RIZ1 Protein, Human (GST) | Q13029 (M1-A200) | ≥ 85%, as determined by reducing SDS-PAGE. |
| HY-P701105 | RIZ1 Protein, Human (His) | Q13029 (M1-A200) | ≥ 95%, as determined by reducing SDS-PAGE. |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Retinoblastoma |
|
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| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
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| Nephrotic Syndrome, Type 4 |
|
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| Wilms Tumor 5 |
|
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| Medulloblastoma |
|
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| Gastric Cancer |
|
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| Breast Cancer |
|
|
| Colorectal Cancer |
|
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| Myelodysplastic Syndrome |
|
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| Intrahepatic Bile Duct Adenoma |
|
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| Hepatocellular Carcinoma |
|
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| Meningioma, Familial |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Rattus norvegicus | PRDM2 | RGD | RGD:1594531 |
| Mus musculus | PRDM2 | MGD | MGI:107628 |
| Canis familiaris | PRDM2 | VGNC | VGNC:52232 |
| Macaca mulatta | PRDM2 | VGNC | VGNC:76392 |
| Felis catus | PRDM2 | VGNC | VGNC:80319 |
| Bos taurus | PRDM2 | VGNC | VGNC:33295 |
| Others | PRDM2 | NCBI |