GATAD2B (GATA zinc finger domain containing 2B)

2014-08-01  

Identity

HGNC
GATAD2B
LOCATION
1q21.3
LOCUSID
57459
ALIAS
GANDS,MRD18,P66beta,p68
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57459
MIM: 614998
HGNC: 30778
Ensembl: ENSG00000143614

Variants:

dbSNP: 57459
ClinVar: 57459
TCGA: ENSG00000143614
COSMIC: GATAD2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143614ENST00000368655Q8WXI9
ENSG00000143614ENST00000634401A0A0U1RR34
ENSG00000143614ENST00000634408A0A0U1RRM1
ENSG00000143614ENST00000634544Q8WXI9
ENSG00000143614ENST00000634564A0A0U1RR30
ENSG00000143614ENST00000634791A0A0U1RRK3
ENSG00000143614ENST00000637331A0A1B0GVS4
ENSG00000143614ENST00000637918A0A1B0GW07

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
RNA Polymerase I TranscriptionREACTOMER-HSA-73864
RNA Polymerase I Promoter ClearanceREACTOMER-HSA-73854
RNA Polymerase I Transcription InitiationREACTOMER-HSA-73762
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HDACs deacetylate histonesREACTOMER-HSA-3214815
Positive epigenetic regulation of rRNA expressionREACTOMER-HSA-5250913
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Activity through AcetylationREACTOMER-HSA-6804758
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expressionREACTOMER-HSA-427389

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
121834692002Two highly related p66 proteins comprise a new family of potent transcriptional repressors interacting with MBD2 and MBD3.35
236444632013GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila.23
285768272017The transcriptional repressor GATAD2B mediates progesterone receptor suppression of myometrial contractile gene expression.5
251188462014Nuclear translocation of lysyl oxidase is promoted by interaction with transcription repressor p66β.4
2821197720171q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.3
185053702008Identification of a linkage disequilibrium block in chromosome 1q associated with BMD in premenopausal white women.2
280778402017Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.2
300130582018In vivo screening identifies GATAD2B as a metastasis driver in KRAS-driven lung cancer.2
303460932018Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent.0
312050502019GATAD2B-related intellectual disability due to parental mosaicism and review of literature.0

Citation

Dessen P

GATAD2B (GATA zinc finger domain containing 2B)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54326/gatad2b-(gata-zinc-finger-domain-containing-2b)