Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
84159
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
AT-rich interaction domain 5B |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
ARID5B |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
DESRT, MRF-2, MRF2 |
Chromosome
Chromosome number
|
10 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
10q21.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipo |
UniProt ID |
Q14865
|
Protein name |
AT-rich interactive domain-containing protein 5B (ARID domain-containing protein 5B) (MRF1-like protein) (Modulator recognition factor 2) (MRF-2) |
Protein function |
Transcription coactivator that binds to the 5'-AATA[CT]-3' core sequence and plays a key role in adipogenesis and liver development. Acts by forming a complex with phosphorylated PHF2, which mediates demethylation at Lys-336, leading to target t |
PDB |
1IG6
,
2OEH
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01388
|
ARID |
320 → 406 |
ARID/BRIGHT DNA binding domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Widely expressed, including in liver (at protein level). {ECO:0000269|PubMed:21532585}. |
Sequence |
MEPNSLQWVGSPCGLHGPYIFYKAFQFHLEGKPRILSLGDFFFVRCTPKDPICIAELQLL WEERTSRQLLSSSKLYFLPEDTPQGRNSDHGEDEVIAVSEKVIVKLEDLVKWVHSDFSKW RCGFHAGPVKTEALGRNGQKEALLKYRQSTLNSGLNFKDVLKEKADLGEDEEETNVIVLS YPQYCRYRSMLKRIQDKPSSILTDQFALALGGIAVVSRNPQILYCRDTFDHPTLIENESI CDEFAPNLKGRPRKKKPCPQRRDSFSGVKDSNNNSDGKAVAKVKCEARSALTKPKNNHNC KKVSNEEKPKVAIGEECRADEQAFLVALYKYMKERKTPIERIPYLGFKQINLWTMFQAAQ KLGGYETITARRQWKHIYDELGGNPGSTSAATCTRRHYERLILPYERFIKGEEDKPLPPI KPRKQENSSQENENKTKVSGTKRIKHEIPKSKKEKENAPKPQDAAEVSSEQEKEQETLIS QKSIPEPLPAADMKKKIEGYQEFSAKPLASRVDPEKDNETDQGSNSEKVAEEAGEKGPTP PLPSAPLAPEKDSALVPGASKQPLTSPSALVDSKQESKLCCFTESPESEPQEASFPSFPT TQPPLANQNETEDDKLPAMADYIANCTVKVDQLGSDDIHNALKQTPKVLVVQSFDMFKDK DLTGPMNENHGLNYTPLLYSRGNPGIMSPLAKKKLLSQVSGASLSSSYPYGSPPPLISKK KLIARDDLCSSLSQTHHGQSTDHMAVSRPSVIQHVQSFRSKPSEERKTINDIFKHEKLSR SDPHRCSFSKHHLNPLADSYVLKQEIQEGKDKLLEKRALPHSHMPSFLADFYSSPHLHSL YRHTEHHLHNEQTSKYPSRDMYRESENSSFPSHRHQEKLHVNYLTSLHLQDKKSAAAEAP TDDQPTDLSLPKNPHKPTGKVLGLAHSTTGPQESKGISQFQVLGSQSRDCHPKACRVSPM TMSGPKKYPESLSRSGKPHHVRLENFRKMEGMVHPILHRKMSPQNIGAARPIKRSLEDLD LVIAGKKARAVSPLDPSKEVSGKEKASEQESEGSKAAHGGHSGGGSEGHKLPLSSPIFPG LYSGSLCNSGLNSRLPAGYSHSLQYLKNQTVLSPLMQPLAFHSLVMQRGIFTSPTNSQQL YRHLAAATPVGSSYGDLLHNSIYPLAAINPQAAFPSSQLSSVHPSTKL
|
|
Sequence length |
1188 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Adenocarcinoma |
Adenoid Cystic Carcinoma |
rs121913530, rs886039394, rs121913474 |
23685749 |
Autoimmune diseases |
Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 |
rs869025224 |
30595370 |
Hypothyroidism |
Hypothyroidism |
rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 View all (22 more) |
30595370 |
Lymphoblastic leukemia |
Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Precursor Cell Lymphoblastic Leukemia Lymphoma |
rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 View all (13 more) |
19684603, 19684604, 23996088, 29632299, 23512250, 22076464, 28817678, 29348612, 25310577 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs587776843 |
23143596, 22446963, 24390342, 24532676, 30423114 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Nasopharyngeal carcinoma |
Nasopharyngeal carcinoma |
These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes. |
20512145 |
ClinVar, CBGDA |
Vitiligo |
Vitiligo |
|
|
GWAS |
Systemic lupus erythematosus |
Systemic lupus erythematosus |
|
|
GWAS |
Gout |
Gout |
|
|
GWAS |
Diabetes |
Diabetes |
|
|
GWAS |
Heart Failure |
Heart Failure |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acromegaly |
Associate
|
36435867 |
Acute Disease |
Associate
|
24712521 |
Adenocarcinoma |
Associate
|
34725203 |
Alzheimer Disease |
Associate
|
30898171 |
Arthritis Rheumatoid |
Associate
|
23118423, 23577190 |
Atherosclerosis |
Associate
|
28855511, 32107839 |
Autoimmune Diseases |
Associate
|
32231389 |
Breast Neoplasms |
Associate
|
33592583 |
Carcinoma Hepatocellular |
Associate
|
36177006 |
Carcinoma Squamous Cell |
Associate
|
34725203 |
Colorectal Neoplasms |
Associate
|
34803080 |
Coronary Artery Disease |
Associate
|
28469100, 39748436 |
Diabetes Mellitus Type 2 |
Associate
|
28469100 |
Gastrointestinal Neoplasms |
Associate
|
35239432 |
Graves Disease |
Associate
|
23118423 |
Hashimoto Disease |
Associate
|
23118423 |
Hyperhomocysteinemia |
Associate
|
35227297 |
Hyperlipidemias |
Associate
|
35227297 |
Infections |
Associate
|
25761407, 25806972 |
Inflammation |
Associate
|
28855511 |
Kidney Failure Chronic |
Associate
|
33933144 |
Leukemia |
Associate
|
19684603, 24564228, 35575404 |
Leukemia Biphenotypic Acute |
Associate
|
38382358 |
Neoplasms |
Associate
|
26575185, 27346418, 35239432, 36421334 |
Obesity |
Associate
|
29976977 |
Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
36708585 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
19684603, 19684604, 20460642, 22291082, 23692655, 25310577, 25761407, 25806972, 27644650, 28381164, 31573954, 33891562, 35575404, 36708585 |
Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
36708585, 37642051 |
Silicosis |
Associate
|
33446673 |
Sjogren's Syndrome |
Associate
|
29504848 |
Thyroiditis Autoimmune |
Associate
|
23118423 |
Turcot syndrome |
Associate
|
27346418 |
Urethral Neoplasms |
Associate
|
36421334 |
|