UniProt ID |
O94953
|
Protein name |
Lysine-specific demethylase 4B (EC 1.14.11.66) (JmjC domain-containing histone demethylation protein 3B) (Jumonji domain-containing protein 2B) ([histone H3]-trimethyl-L-lysine(9) demethylase 4B) |
Protein function |
Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27', H3 'Lys-36' nor H4 'Lys-20'. Only able to demethylate trimethylated H3 'Lys-9 |
PDB |
4LXL
,
4UC4
,
7JM5
,
9H44
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02375
|
JmjN |
16 → 50 |
jmjN domain |
Family |
PF02373
|
JmjC |
176 → 292 |
JmjC domain, hydroxylase |
Domain |
PF13831
|
PHD_2 |
754 → 789 |
|
Family |
PF13832
|
zf-HC5HC2H_2 |
795 → 906 |
|
Domain |
PF18104
|
Tudor_2 |
922 → 956 |
Jumonji domain-containing protein 2A Tudor domain |
Domain |
PF18104
|
Tudor_2 |
980 → 1014 |
Jumonji domain-containing protein 2A Tudor domain |
Domain |
|
Sequence |
|
Sequence length |
1096 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Medulloblastoma |
Medulloblastoma, Childhood Medulloblastoma, Adult Medulloblastoma, Desmoplastic Medulloblastoma, Melanotic medulloblastoma |
rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009 |
19270706 |
Melanoma |
melanoma |
rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 View all (64 more) |
29438700 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Mental retardation |
syndromic intellectual disability |
|
|
GenCC |
Neurodevelopmental Disorders |
complex neurodevelopmental disorder |
|
|
GenCC |
Schizophrenia |
Schizophrenia |
|
|
GWAS |
Diabetes |
Diabetes |
|
|
GWAS |
Systemic lupus erythematosus |
Systemic lupus erythematosus |
|
|
GWAS |
Hypertension |
Hypertension |
|
|
GWAS |
Insomnia |
Insomnia |
|
|
GWAS |
Restless Legs Syndrome |
Restless Legs Syndrome |
|
|
GWAS |
Coronary artery disease |
Coronary artery disease |
|
|
GWAS |
Atrial Fibrillation |
Atrial Fibrillation |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Arthritis Rheumatoid |
Associate
|
33909202 |
Asthma |
Associate
|
33688506 |
Breast Neoplasms |
Associate
|
20682797, 23723241, 25725194 |
Carcinogenesis |
Associate
|
30683841, 31647098 |
Carcinoma Hepatocellular |
Associate
|
27487123 |
Carcinoma Non Small Cell Lung |
Associate
|
26722485 |
Carcinoma Renal Cell |
Associate
|
36952476 |
Colorectal Neoplasms |
Associate
|
26511091 |
Glioblastoma |
Associate
|
38093312 |
Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
21502505 |
Hypoxia |
Associate
|
18984585, 20682797 |
Hypoxia Brain |
Stimulate
|
18984585, 32034099 |
Inflammation |
Associate
|
33909202 |
Kidney Neoplasms |
Associate
|
18984585 |
Monosomy |
Inhibit
|
25593028 |
Motor Disorders |
Associate
|
38181310 |
Neoplasm Metastasis |
Associate
|
32802732, 36952476 |
Neoplasms |
Associate
|
25593028, 27487123, 32802732, 33275145, 33909202, 35857643, 36952476, 38093312 |
Osteosarcoma |
Associate
|
32802732 |
Pancreatic Neoplasms |
Associate
|
26511091 |
Prostatic Neoplasms |
Associate
|
24971742, 34417538 |
Prostatic Neoplasms Castration Resistant |
Associate
|
31647098 |
Rhabdomyosarcoma |
Associate
|
35857643 |
Status Asthmaticus |
Stimulate
|
33688506 |
Stomach Neoplasms |
Associate
|
30683841 |
Uveal melanoma |
Associate
|
25593028 |
|