ARID1B (AT-rich interaction domain 1B)

2013-03-01  

Identity

HGNC
ARID1B
LOCATION
6q25.3
LOCUSID
57492
ALIAS
6A3-5,BAF250B,BRIGHT,CSS1,DAN15,ELD/OSA1,MRD12,OSA2,P250R
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57492
MIM: 614556
HGNC: 18040
Ensembl: ENSG00000049618

Variants:

dbSNP: 57492
ClinVar: 57492
TCGA: ENSG00000049618
COSMIC: ARID1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000049618ENST00000319584H0Y2R3
ENSG00000049618ENST00000346085A0A3F2YNW7
ENSG00000049618ENST00000350026Q8NFD5
ENSG00000049618ENST00000400790H0Y3S9
ENSG00000049618ENST00000414678H0Y7H8
ENSG00000049618ENST00000494260A0A1B0GUG2
ENSG00000049618ENST00000635849A0A1B0GWJ2
ENSG00000049618ENST00000635928A0A1B0GTI6
ENSG00000049618ENST00000635957A0A1B0GV63
ENSG00000049618ENST00000636607A0A1B0GUC6
ENSG00000049618ENST00000636748A0A1B0GU09
ENSG00000049618ENST00000636930Q8NFD5
ENSG00000049618ENST00000637003A0A1B0GTE8
ENSG00000049618ENST00000637015A0A1B0GTJ8
ENSG00000049618ENST00000637532A0A1B0GV92
ENSG00000049618ENST00000637568A0A1B0GVH0
ENSG00000049618ENST00000637810Q8NFD5
ENSG00000049618ENST00000637887A0A1B0GWI8
ENSG00000049618ENST00000637904A0A1B0GVK1
ENSG00000049618ENST00000638000A0A1B0GU65
ENSG00000049618ENST00000647938Q8NFD5

Expression (GTEx)

0
5
10
15
20
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
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
RMTs methylate histone argininesREACTOMER-HSA-3214858

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
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
381715622024[Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene].0
387187962024ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum.0
381715622024[Genetic analysis of two children with Coffin-Siris syndrome due to variants of ARID1B gene].0
387187962024ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum.0
363542912023Paraspeckles interact with SWI/SNF subunit ARID1B to regulate transcription and splicing.5
368839122023Correlation between ARID1B gene mutation (p.A460, p.V215G) and prognosis of high-risk refractory neuroblastoma.0
363542912023Paraspeckles interact with SWI/SNF subunit ARID1B to regulate transcription and splicing.5
368839122023Correlation between ARID1B gene mutation (p.A460, p.V215G) and prognosis of high-risk refractory neuroblastoma.0
336862142022Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders.18
353150362022[Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome].0
356724502022ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge's disease.5
363526332022Three Novel ARID1B Variations in Coffin-Siris Syndrome Patients.1
336862142022Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders.18
353150362022[Analysis of ARID1B gene variants in two Chinese pedigrees with Coffin-Siris syndrome].0
356724502022ARID1B, a molecular suppressor of erythropoiesis, is essential for the prevention of Monge's disease.5

Citation

Dessen P

ARID1B (AT-rich interaction domain 1B)

Atlas Genet Cytogenet Oncol Haematol. 2013-03-01

Online version: http://atlasgeneticsoncology.org/gene/53195