JARID2 - jumonji and AT-rich interaction domain containing 2 Gene
Also Known as JMJ; DIDDF
生物種: Homo sapiens
About JARID2
This gene has 3 transcripts (splice variants), 221 orthologues, 10 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 19.2), testis (RPKM 12.2) and 23 other tissues.
Summary
This gene encodes a Jumonji- and AT-rich interaction domain (ARID)-domain-containing protein. The encoded protein is a DNA-binding protein that functions as a transcriptional repressor. This protein interacts with the Polycomb repressive complex 2 (PRC2) which plays an essential role in regulating gene expression during embryonic development. This protein facilitates the recruitment of the PRC2 complex to target genes. Alternate splicing results in multiple transcript variants. Mutations in this gene are associated with chronic myeloid malignancies. [provided by RefSeq, May 2012]
JARID2 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001267040.1 | NP_001253969.1 | protein Jumonji isoform 2 |
| NM_004973.4 | NP_004964.2 | protein Jumonji isoform 1 |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
20075857 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
20075857 | GOA |
JARID2 Protein Structure
JmjN: jmjN domain (558 - 591)
ARID: ARID/BRIGHT DNA binding domain (619 - 709)
JmjC: JmjC domain, hydroxylase (916 - 1031)
zf-C5HC2: C5HC2 zinc finger (1139 - 1193)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1246 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protein Jumonji |
|
JARID2 抗体
| 製品番号 | 製品名 | アプリケーション | 反応性 |
|---|---|---|---|
| HY-P82265 | Protein Jumonji Antibody (YA2010) | WB, ICC/IF | Human |
| HY-P84707 | Protein Jumonji Antibody (YA4404) | ICC/IF, FC, ELISA | Human |
| HY-P84707A | Protein Jumonji Antibody (YA4404)(PBS only) | ICC/IF, FC, ELISA | Human |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Non-Specific Syndromic Intellectual Disability |
|
|
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
|
| Tetralogy Of Fallot |
|
|
| Weaver Syndrome |
|
|
| Rhabdomyosarcoma |
|
|
| Kabuki Syndrome 1 |
|
|
| Autism Spectrum Disorder |
|
|
| Double Outlet Right Ventricle |
|
|
| Autism |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Bos taurus | JARID2 | VGNC | VGNC:30371 |
| Canis familiaris | JARID2 | VGNC | VGNC:42181 |
| Rattus norvegicus | JARID2 | RGD | RGD:1591663 |
| Macaca mulatta | JARID2 | VGNC | VGNC:73956 |
| Felis catus | JARID2 | VGNC | VGNC:67879 |
| Mus musculus | JARID2 | MGD | MGI:104813 |
| Others | JARID2 | NCBI |