|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
9682
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Lysine demethylase 4A |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
KDM4A |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
JHDM3A, JMJD2, JMJD2A, TDRD14A |
|
Chromosome
Chromosome number
|
1 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1p34.2-p34.1 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demeth |
| UniProt ID |
O75164
|
| Protein name |
Lysine-specific demethylase 4A (EC 1.14.11.66) (EC 1.14.11.69) (JmjC domain-containing histone demethylation protein 3A) (Jumonji domain-containing protein 2A) ([histone H3]-trimethyl-L-lysine(36) demethylase 4A) ([histone H3]-trimethyl-L-lysine(9) demeth |
| Protein function |
Histone demethylase that specifically demethylates 'Lys-9' and 'Lys-36' residues of histone H3, thereby playing a central role in histone code (PubMed:26741168, PubMed:21768309). Does not demethylate histone H3 'Lys-4', H3 'Lys-27' nor H4 'Lys-2 |
| PDB |
2GF7
,
2GFA
,
2GP3
,
2GP5
,
2OQ6
,
2OQ7
,
2OS2
,
2OT7
,
2OX0
,
2P5B
,
2PXJ
,
2Q8C
,
2Q8D
,
2Q8E
,
2QQR
,
2QQS
,
2VD7
,
2WWJ
,
2YBK
,
2YBP
,
2YBS
,
3NJY
,
3PDQ
,
3RVH
,
3U4S
,
4AI9
,
4BIS
,
4GD4
,
4URA
,
4V2V
,
4V2W
,
5A7N
,
5A7O
,
5A7P
,
5A7Q
,
5A7S
,
5A7W
,
5A80
,
5ANQ
,
5D6W
,
5D6X
,
5D6Y
,
5F2S
,
5F2W
,
5F32
,
5F37
,
5F39
,
5F3C
,
5F3E
,
5F3G
,
5F3I
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF02375
|
JmjN |
15 → 49 |
jmjN domain |
Family |
|
PF02373
|
JmjC |
175 → 291 |
JmjC domain, hydroxylase |
Domain |
|
PF13831
|
PHD_2 |
732 → 767 |
|
Family |
|
PF13832
|
zf-HC5HC2H_2 |
773 → 884 |
|
Domain |
|
PF18104
|
Tudor_2 |
902 → 936 |
Jumonji domain-containing protein 2A Tudor domain |
Domain |
|
PF18104
|
Tudor_2 |
960 → 994 |
Jumonji domain-containing protein 2A Tudor domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:15927959}. |
| Sequence |
|
| Sequence length |
1064 |
| Interactions |
View interactions
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Attention Deficit Hyperactivity Disorder |
Attention deficit hyperactivity disorder |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension risk in short sleep duration |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Attention Deficit Disorder with Hyperactivity |
Associate
|
29413154 |
| Breast Neoplasms |
Associate
|
21962223, 35833065 |
| Carcinogenesis |
Associate
|
15927959, 28693517, 29393482, 34111227 |
| Carcinoma Hepatocellular |
Associate
|
32481346, 32883983, 36973424, 39210306 |
| Carcinoma in Situ |
Inhibit
|
21400613 |
| Carcinoma Non Small Cell Lung |
Associate
|
25564517, 26722485 |
| Depressive Disorder |
Associate
|
21962223 |
| Endometrial Neoplasms |
Stimulate
|
24815446 |
| Esophageal Squamous Cell Carcinoma |
Associate
|
36965032 |
| Glioma |
Associate
|
37873881 |
| Hypoxia |
Associate
|
25961932 |
| Intervertebral Disc Degeneration |
Associate
|
35340126 |
| Lung Neoplasms |
Associate
|
26722485 |
| Lymphatic Metastasis |
Associate
|
21400613, 26722485 |
| Lymphoma Primary Effusion |
Associate
|
35914074 |
| Meningioma |
Associate
|
26240495 |
| Nasopharyngeal Carcinoma |
Associate
|
28693517 |
| Neoplasm Invasiveness |
Inhibit
|
21400613 |
| Neoplasm Metastasis |
Associate
|
24815446, 28693517 |
| Neoplasms |
Associate
|
21400613, 21962223, 23871696, 24815446, 26755726, 28212444, 34111227, 37873881, 37988559 |
| Neoplasms |
Inhibit
|
26461474, 36965032 |
| Neuroendocrine Tumors |
Associate
|
29393482 |
| Opioid Related Disorders |
Associate
|
34728798 |
| Prostatic Neoplasms |
Associate
|
24971742, 25189356, 27109047, 29393482, 37165308, 37870957 |
| Prostatic Neoplasms Castration Resistant |
Associate
|
37165308 |
| Prostatitis |
Associate
|
27109047, 37870957 |
| Sarcoma Kaposi |
Associate
|
35914074 |
| Urinary Bladder Neoplasms |
Associate
|
21400613 |
|