GATAD2B
entrez
57459
canonical
uniprot
Q8WXI9
canonical
ensembl
ENSG00000143614
resolver
ensembl
ENSG00000261992
resolver
ensp
ENSP00000357644
resolver
ensp
ENSP00000458280
resolver
ensp
ENSP00000489184
resolver
ensp
ENSP00000537155
resolver
ensp
ENSP00000537156
resolver
ensp
ENSP00000537157
resolver
enst
ENST00000368655
resolver
enst
ENST00000576342
resolver
enst
ENST00000634544
resolver
enst
ENST00000867096
resolver
enst
ENST00000867097
resolver
enst
ENST00000867098
resolver
genesymbol
GATAD2B
resolver
genesymbol_syn
KIAA1150
resolver
hgnc
HGNC:30778
resolver
uniprot
D3DUZ2
resolver
uniprot
Q5VUR2
resolver
uniprot
Q7LG68
resolver
uniprot
Q9ULS0
resolver
uniprot_entry
P66B_HUMAN
resolver
uniprot_sec
D3DUZ2
resolver
uniprot_sec
Q5VUR2
resolver
uniprot_sec
Q7LG68
resolver
uniprot_sec
Q9ULS0
resolver
amino_acid_sequence
MDRMTEDALRLNLLKRSLDPADERDDVLAKRLKMEGHEAMERLKMLALLKRKDLANLEVPHELPTKQDGSGVKGYEEKLNGNLRPHGDNRTAGRPGKENINDEPVDMSARRSEPERGRLTPSPDIIVLSDNEASSPRSSSRMEERLKAANLEMFKGKGIEERQQLIKQLRDELRLEEARLVLLKKLRQSQLQKENVVQKTPVVQNAASIVQPSPAHVGQQGLSKLPSRPGAQGVEPQNLRTLQGHSVIRSATNTTLPHMLMSQRVIAPNPAQLQGQRGPPKPGLVRTTTPNMNPAINYQPQSSSSVPCQRTTSSAIYMNLASHIQPGTVNRVSSPLPSPSAMTDAANSQAAAKLALRKQLEKTLLEIPPPKPPAPLLHFLPSAANSEFIYMVGLEEVVQSVIDSQGKSCASLLRVEPFVCAQCRTDFTPHWKQEKNGKILCEQCMTSNQKKALKAEHTNRLKNAFVKALQQEQEIEQRLQQQAALSPTTAPAVSSVSKQETIMRHHTLRQAPQPQSSLQRGIPTSARSMLSNFAQAPQLSVPGGLLGMPGVNIAYLNTGIGGHKGPSLADRQREYLLDMIPPRSISQSISGQK
uniprot
proteins
disease_involvement
DISEASE: Gand syndrome (GAND) [MIM:615074]: An autosomal dominant syndrome characterized by global developmental delay with motor delay, moderate to severely impaired intellectual development, and poor speech acquisition in most patients. Additional features include hypotonia, feeding difficulties in infancy, and dysmorphic features. More variable features may include seizures, cardiac abnormalities, and non-specific findings on brain imaging. {ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:23644463}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional repressor (PubMed:12183469, PubMed:16415179). Acts as a component of the histone deacetylase NuRD complex which participates in the remodeling of chromatin (PubMed:16428440, PubMed:28977666). Enhances MBD2-mediated repression (PubMed:12183469, PubMed:16415179). Efficient repression requires the presence of GATAD2A (PubMed:16415179). Targets MBD3 to discrete loci in the nucleus (PubMed:11756549). May play a role in synapse development (PubMed:23644463). {ECO:0000269|PubMed:11756549, ECO:0000269|PubMed:12183469, ECO:0000269|PubMed:16415179, ECO:0000269|PubMed:16428440, ECO:0000269|PubMed:23644463, ECO:0000269|PubMed:28977666}.
uniprot
proteins
mass_dalton
65261
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
11756549
uniprot
proteins
pubmed
12183469
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16415179
uniprot
proteins
pubmed
16428440
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17924679
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
23033978
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23644463
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
26030138
uniprot
proteins
pubmed
27732854
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
28977666
uniprot
proteins
pubmed
33283408
uniprot
proteins
sequence_length
593
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:11756549, ECO:0000269|PubMed:12183469, ECO:0000269|PubMed:16415179}. Nucleus {ECO:0000269|PubMed:27732854, ECO:0000269|PubMed:28977666, ECO:0000269|PubMed:33283408}. Chromosome {ECO:0000269|PubMed:27732854}. Note=Speckled nuclear localization requires both CR1 and CR2 regions (PubMed:16415179). Localizes to sites of DNA damage (PubMed:27732854). {ECO:0000269|PubMed:16415179, ECO:0000269|PubMed:27732854}.
uniprot
proteins