Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
3720
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Jumonji and AT-rich interaction domain containing 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
JARID2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
DIDDF, JMJ |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
DIDDF |
Chromosome
Chromosome number
|
6 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
6p22.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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) |
UniProt ID |
Q92833
|
Protein name |
Protein Jumonji (Jumonji/ARID domain-containing protein 2) |
Protein function |
Regulator of histone methyltransferase complexes that plays an essential role in embryonic development, including heart and liver development, neural tube fusion process and hematopoiesis (PubMed:20075857). Acts as an accessory subunit for the c |
PDB |
4X3E
,
5HYN
,
5LS6
,
5WAI
,
6C23
,
6C24
,
6NQ3
,
6WKR
,
7KSO
,
8TB9
,
8VMI
,
8VML
,
8VNV
,
8VNZ
,
9C8U
,
9DCH
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02375
|
JmjN |
558 → 591 |
jmjN domain |
Family |
PF01388
|
ARID |
604 → 709 |
ARID/BRIGHT DNA binding domain |
Domain |
PF02373
|
JmjC |
916 → 1031 |
JmjC domain, hydroxylase |
Domain |
PF02928
|
zf-C5HC2 |
1139 → 1192 |
C5HC2 zinc finger |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: During embryogenesis, predominantly expressed in neurons and particularly in dorsal root ganglion cells. |
Sequence |
|
Sequence length |
1246 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Autism spectrum disorder |
Autism Spectrum Disorders |
rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813 View all (51 more) |
21308764 |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
16967465, 19884986 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Mental retardation |
syndromic intellectual disability |
|
|
GenCC |
Multiple myeloma |
Multiple myeloma |
MM cells lacking PSMC6 also developed resistance against Carfilzomib (CAR) |
|
GWAS, CBGDA |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Cervical Cancer |
Cervical Cancer |
Our screens identified 10 miRNAs that enhance fitness of HeLa cells and have been reported to be up-regulated in cervical cancer (Table2). |
|
GWAS, CBGDA |
Diabetes |
Diabetes |
|
|
GWAS |
Dementia |
Dementia |
|
|
GWAS |
Glioblastoma |
Glioblastoma |
CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 |
|
GWAS, CBGDA |
Carcinoma |
Carcinoma |
|
|
GWAS |
Rheumatoid arthritis |
Rheumatoid arthritis |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis |
Associate
|
23294540 |
Autistic Disorder |
Associate
|
35887345, 37762546 |
Cleft Palate |
Associate
|
31262291 |
Cognition Disorders |
Associate
|
23294540, 35887345, 37762546 |
Colorectal Neoplasms |
Associate
|
25542019 |
Congenital Abnormalities |
Associate
|
23294540, 37762546 |
Developmental Disabilities |
Associate
|
33077894, 35887345, 37762546 |
Endometriosis |
Associate
|
33800594 |
Gait Disorders Neurologic |
Associate
|
23294540 |
Glioma |
Associate
|
34251962 |
Heart Defects Congenital |
Associate
|
36205932 |
Heart Failure |
Associate
|
32618141 |
Intellectual Disability |
Associate
|
23294540, 33077894, 35887345, 37762546 |
Left sided gallbladder |
Associate
|
29089047 |
Leukemia |
Associate
|
22190018 |
Leukemia Lymphocytic Chronic B Cell |
Associate
|
29196338 |
Leukemia Megakaryoblastic Acute |
Associate
|
25097177 |
Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
22190018 |
Lung Neoplasms |
Associate
|
25542019 |
Mental Disorders |
Associate
|
35887345, 37762546 |
Mesothelioma Malignant |
Associate
|
34008015 |
Muscle Hypotonia |
Associate
|
35887345, 37762546 |
Neoplasm Metastasis |
Stimulate
|
23435416 |
Neoplasms |
Associate
|
22190018, 25097177, 28445934, 34008015, 40500734 |
Neoplasms |
Inhibit
|
29196338 |
Pancreatitis |
Associate
|
38273351 |
Primary Myelofibrosis |
Associate
|
25097177 |
Rhabdomyosarcoma |
Associate
|
23435416 |
Tetralogy of Fallot |
Associate
|
24889693 |
Thakker Donnai syndrome |
Associate
|
35887345 |
Urinary Bladder Neoplasms |
Associate
|
28445934 |
Ventricular Outflow Obstruction Left |
Associate
|
27760138 |
|