Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
23081
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Lysine demethylase 4C |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
KDM4C |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
GASC1, JHDM3C, JMJD2C, TDRD14C |
Chromosome
Chromosome number
|
9 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
9p24.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and |
UniProt ID |
Q9H3R0
|
Protein name |
Lysine-specific demethylase 4C (EC 1.14.11.66) (Gene amplified in squamous cell carcinoma 1 protein) (GASC-1 protein) (JmjC domain-containing histone demethylation protein 3C) (Jumonji domain-containing protein 2C) ([histone H3]-trimethyl-L-lysine(9) deme |
Protein function |
Histone demethylase that specifically demethylates 'Lys-9' and 'Lys-36' residues of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-4', H3 'Lys-27' nor H4 'Lys-20'. Demethylates trimethylated H3 ' |
PDB |
2XDP
,
2XML
,
4XDO
,
4XDP
,
5FJH
,
5FJK
,
5KR7
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02375
|
JmjN |
17 → 51 |
jmjN domain |
Family |
PF02373
|
JmjC |
177 → 293 |
JmjC domain, hydroxylase |
Domain |
PF13831
|
PHD_2 |
712 → 747 |
|
Family |
PF13832
|
zf-HC5HC2H_2 |
753 → 864 |
|
Domain |
PF18104
|
Tudor_2 |
882 → 916 |
Jumonji domain-containing protein 2A Tudor domain |
Domain |
PF18104
|
Tudor_2 |
940 → 974 |
Jumonji domain-containing protein 2A Tudor domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Overexpressed in several esophageal squamous cell carcinomas (ESCs). {ECO:0000269|PubMed:10987278}. |
Sequence |
|
Sequence length |
1056 |
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 |
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) |
30285260, 28991256 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Systemic lupus erythematosus |
Systemic lupus erythematosus |
|
|
GWAS |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
Restless Legs Syndrome |
Restless Legs Syndrome |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Autism Spectrum Disorder |
Associate
|
33279929 |
Breast Neoplasms |
Associate
|
21666724, 23148692, 24952432, 25220908, 27223606 |
Carcinogenesis |
Associate
|
27223606, 31888886 |
Carcinoma Non Small Cell Lung |
Associate
|
26722485 |
Carcinoma Renal Cell |
Associate
|
22483639, 25220908, 31575031 |
Carcinoma Squamous Cell |
Associate
|
11346465, 21666724, 24394434 |
Esophageal Neoplasms |
Associate
|
19339270 |
Fetal Growth Retardation |
Associate
|
31415216 |
Glioblastoma |
Stimulate
|
31888886 |
Glioma |
Associate
|
31888886 |
Hereditary leiomyomatosis and renal cell cancer |
Associate
|
26160878 |
Hodgkin Disease |
Associate
|
21156283, 35522148 |
Hypoxia Brain |
Stimulate
|
26160878 |
Infertility Male |
Associate
|
31103287 |
Latent Autoimmune Diabetes in Adults |
Associate
|
28396876 |
Leukemia |
Associate
|
25220908 |
Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
20082691 |
Lymphoma |
Associate
|
21156283, 26850007, 35522148 |
Lymphoma B Cell |
Associate
|
21156283, 35522148 |
Melanoma |
Associate
|
38252669 |
Multiple Myeloma |
Stimulate
|
33469678 |
Neoplasms |
Associate
|
21666724, 23148692, 24285722, 24952432, 25220908, 26850007, 27223606, 34281993 |
Neoplasms |
Inhibit
|
35522148 |
Ovarian Neoplasms |
Associate
|
26864203, 36804120 |
Prostatic Neoplasms |
Associate
|
25220908 |
Schizophrenia |
Associate
|
33279929 |
Stomach Neoplasms |
Associate
|
37848946 |
|