|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
5927
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Lysine demethylase 5A |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
KDM5A |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
NEDEHC, RBBP-2, RBBP2, RBP2 |
|
Chromosome
Chromosome number
|
12 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
12p13.33 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The enc |
| UniProt ID |
P29375
|
| Protein name |
Lysine-specific demethylase 5A (EC 1.14.11.67) (Histone demethylase JARID1A) (Jumonji/ARID domain-containing protein 1A) (Retinoblastoma-binding protein 2) (RBBP-2) ([histone H3]-trimethyl-L-lysine(4) demethylase 5A) |
| Protein function |
Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated a |
| PDB |
2JXJ
,
2KGG
,
2KGI
,
3GL6
,
5C11
,
5CEH
,
5E6H
,
5ISL
,
5IVB
,
5IVC
,
5IVE
,
5IVF
,
5IVJ
,
5IVV
,
5IVY
,
5IW0
,
5IWF
,
5K4L
,
5V9P
,
5V9T
,
6BGU
,
6BGV
,
6BGW
,
6BGX
,
6BGY
,
6BGZ
,
6BH0
,
6BH1
,
6BH2
,
6BH3
,
6BH4
,
6BH5
,
6DQ4
,
6DQ5
,
6DQ6
,
6DQ7
,
6DQ8
,
6DQ9
,
6DQA
,
6DQB
,
6DQC
,
6DQD
,
6DQE
,
6DQF
,
7KLO
,
7KLR
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF02375
|
JmjN |
20 → 53 |
jmjN domain |
Family |
|
PF01388
|
ARID |
86 → 170 |
ARID/BRIGHT DNA binding domain |
Domain |
|
PF00628
|
PHD |
295 → 343 |
PHD-finger |
Domain |
|
PF02373
|
JmjC |
470 → 586 |
JmjC domain, hydroxylase |
Domain |
|
PF02928
|
zf-C5HC2 |
676 → 728 |
C5HC2 zinc finger |
Domain |
|
PF08429
|
PLU-1 |
741 → 1072 |
PLU-1-like protein |
Family |
|
PF00628
|
PHD |
1163 → 1218 |
PHD-finger |
Domain |
|
| Sequence |
|
| Sequence length |
1690 |
| 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 |
| Congenital Heart Disease |
congenital heart disease |
N/A |
N/A |
GenCC |
| Mental retardation |
intellectual disability |
N/A |
N/A |
ClinVar |
| Neurodevelopmental Disorders |
El Hayek-Chahrour neurodevelopmental disorder, neurodevelopmental disorder |
N/A |
N/A |
GenCC |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate
|
34270886 |
| Autism Spectrum Disorder |
Associate
|
37992166 |
| Breast Neoplasms |
Associate
|
23266085, 26841866, 31985200 |
| Carcinogenesis |
Associate
|
27224921, 33621431 |
| Carcinoma Hepatocellular |
Associate
|
23922798, 28582381, 31985200, 33621431 |
| Carcinoma Non Small Cell Lung |
Associate
|
25162518 |
| Carcinoma Pancreatic Ductal |
Associate
|
37880235 |
| Carcinoma Renal Cell |
Associate
|
29506494, 31160694 |
| Common Variable Immunodeficiency |
Associate
|
30723478 |
| Down Syndrome |
Associate
|
33832921 |
| Endometrial Neoplasms |
Associate
|
38042059 |
| Gastro enteropancreatic neuroendocrine tumor |
Associate
|
34647903 |
| Gastroschisis |
Associate
|
31075877 |
| Glioblastoma |
Associate
|
22291905, 26566863 |
| Heart Diseases |
Associate
|
30816197 |
| Hypoxia |
Associate
|
33499904 |
| Leukemia |
Associate
|
27008505, 37301844 |
| Leukemia Megakaryoblastic Acute |
Associate
|
27114462 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
25575817 |
| Leukemia Myeloid Acute |
Associate
|
36799265, 37301844 |
| Leukemia Promyelocytic Acute |
Associate
|
34448811 |
| Lung Neoplasms |
Associate
|
31985200 |
| Multiple Myeloma |
Associate
|
34258103 |
| Neoplasm Metastasis |
Associate
|
27224921, 34270886, 36112263, 37591783 |
| Neoplasms |
Associate
|
25162518, 27224921, 28582381, 31985200, 36799265 |
| Pancreatic Neoplasms |
Associate
|
33499904, 39239542 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
27008505 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
31612466 |
| Prostatic Neoplasms |
Associate
|
31985200 |
| Squamous Cell Carcinoma of Head and Neck |
Associate
|
24425785 |
| Stomach Neoplasms |
Associate
|
23922798, 27224921, 31985200, 37591783 |
| Triple Negative Breast Neoplasms |
Associate
|
36112263 |
|