GATAD2B (GATA zinc finger domain containing 2B)

2014-08-01   Dessen P  

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
335424302021The enhancer activity of long interspersed nuclear element derived microRNA 625 induced by NF-κB.3
344709252021Tissue-specific DNase I footprint analysis confirms the association of GATAD2B Q470* variant with intellectual disability.0
335424302021The enhancer activity of long interspersed nuclear element derived microRNA 625 induced by NF-κB.3
344709252021Tissue-specific DNase I footprint analysis confirms the association of GATAD2B Q470* variant with intellectual disability.0
319493142020GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.12
319493142020GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.12
312050502019GATAD2B-related intellectual disability due to parental mosaicism and review of literature.2
312050502019GATAD2B-related intellectual disability due to parental mosaicism and review of literature.2
300130582018In vivo screening identifies GATAD2B as a metastasis driver in KRAS-driven lung cancer.26
303460932018Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent.1
300130582018In vivo screening identifies GATAD2B as a metastasis driver in KRAS-driven lung cancer.26
303460932018Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent.1
280778402017Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.5
2821197720171q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.4
285768272017The transcriptional repressor GATAD2B mediates progesterone receptor suppression of myometrial contractile gene expression.10

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)