JARID2
Jumonji and AT-Rich Interaction Domain Containing 2
Gene Information Card
| Symbol | JARID2 |
|---|---|
| Full Name | Jumonji and AT-Rich Interaction Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.3 |
| NCBI Gene ID | 3720 ncbi.nlm.nih.gov/gene/3720 |
| Ensembl ID | ENSG00000108091 |
| UniProt ID | Q92833 |
| OMIM ID | 601594 |
| HGNC ID | 6196 |
| Aliases | JMJ, Jumonji, AT-rich interactive domain 2 |
Description
JARID2 (Jumonji and AT-Rich Interaction Domain Containing 2) encodes a DNA-binding protein that is a critical component of the Polycomb repressive complex 2 (PRC2). It binds to AT-rich DNA sequences and recruits PRC2 to target genes, facilitating histone H3 lysine 27 trimethylation (H3K27me3) and transcriptional repression. JARID2 is essential for embryonic development, stem cell differentiation, and lineage specification. Dysregulation of JARID2 is implicated in various cancers and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | JARID2 mutations impair PRC2 recruitment, leading to aberrant gene expression and leukemogenesis | COSMIC; ClinVar |
| Myelodysplastic syndrome | Loss-of-function mutations in JARID2 contribute to hematopoietic dysfunction | COSMIC; ClinVar |
| Neurodevelopmental disorders | De novo missense variants in JARID2 are associated with intellectual disability and autism spectrum disorder | ClinVar; OMIM |
| Hepatocellular carcinoma | JARID2 overexpression correlates with poor prognosis and promotes tumor growth | NCBI Gene; COSMIC |
| Breast cancer | JARID2 acts as a tumor suppressor; reduced expression linked to metastasis | COSMIC; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 8.2 | Medium |
| Brain | 6.5 | Medium |
| Heart | 4.1 | Low |
| Liver | 3.8 | Low |
| Lung | 5.9 | Medium |
| Kidney | 4.5 | Low |
| Testis | 7.1 | Medium |
| Spleen | 6.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 9.3 | High expression |
| HeLa (cervical cancer) | 7.8 | Medium expression |
| HepG2 (liver cancer) | 6.2 | Medium expression |
| A549 (lung cancer) | 5.5 | Medium expression |
| MCF7 (breast cancer) | 4.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <1% | Loss of function; truncated protein |
| c.789_790del (p.Glu264fs) | Frameshift | <1% | Loss of function; premature stop codon |
| c.1567G>A (p.Gly523Arg) | Missense | <0.5% | Unknown; likely damaging |
| c.2011C>T (p.Arg671Trp) | Missense | <0.5% | Unknown; possibly pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in JARID2 result in truncated or absent protein, impairing PRC2 recruitment and leading to loss of H3K27me3 at target loci.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in JARID2.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by interfering with wild-type JARID2 binding to PRC2, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • chromatin binding |
| • transcription corepressor activity | • histone methyltransferase activity (H3K27 specific) |
| • nucleus | • Polycomb repressive complex 2 |
| • negative regulation of transcription by RNA polymerase II | • embryonic development |
| • stem cell differentiation |
Pathways
• Polycomb repressive complex 2 (PRC2) pathway
• Histone methylation
• Transcriptional regulation by Polycomb group proteins
• Embryonic stem cell pluripotency and differentiation
Protein Summary
JARID2 is a 1236-amino-acid nuclear protein containing an AT-rich interaction domain (ARID) and a jumonji (Jmj) domain. It lacks histone demethylase activity but serves as a sequence-specific DNA-binding subunit of PRC2. JARID2 recruits PRC2 to target genes, promoting H3K27me3 deposition and gene silencing. It is essential for proper embryonic development, stem cell maintenance, and lineage commitment. Altered JARID2 expression or function is linked to hematologic malignancies, solid tumors, and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| JARID2 Knockout HEK293 Cell Line | EDJ-KQ2474 | Human | 3720 | Details Get a Quote |
| JARID2 Knockout HCT 116 Cell Line | EDJ-KQ23039 | Human | 3720 | Details Get a Quote |
| JARID2 Knockout HeLa Cell Line | EDJ-KQ23040 | Human | 3720 | Details Get a Quote |
| JARID2 Knockout A-549 Cell Line | EDJ-KQ21683 | Human | 3720 | Details Get a Quote |
| JARID2 Knockout HAP1 Cell Line | EDC08086 | Human | 3720 | Details Get a Quote |
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