CHD2 (chromodomain helicase DNA binding protein 2)

2006-10-01  

Identity

HGNC
CHD2
LOCATION
15q26.1
LOCUSID
1106
ALIAS
DEE94,EEOC
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1106
MIM: 602119
HGNC: 1917
Ensembl: ENSG00000173575

Variants:

dbSNP: 1106
ClinVar: 1106
TCGA: ENSG00000173575
COSMIC: CHD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173575ENST00000394196O14647
ENSG00000173575ENST00000420239O14647
ENSG00000173575ENST00000625243A0A0D9SFA3
ENSG00000173575ENST00000625463A0A0D9SF92
ENSG00000173575ENST00000625662A0A0D9SEU0
ENSG00000173575ENST00000625990A0A0D9SEP7
ENSG00000173575ENST00000626782B7Z3I4
ENSG00000173575ENST00000626874O14647
ENSG00000173575ENST00000626874A0A024RC75
ENSG00000173575ENST00000627460A0A0D9SET4
ENSG00000173575ENST00000627622A0A0D9SFV4
ENSG00000173575ENST00000628375A0A0D9SGK0
ENSG00000173575ENST00000629104A0A0D9SEH6
ENSG00000173575ENST00000629346A0A0D9SGA6
ENSG00000173575ENST00000630016A0A0D9SFV8
ENSG00000173575ENST00000636881A0A1B0GTU9
ENSG00000173575ENST00000637613A0A1B0GU59
ENSG00000173575ENST00000637789A0A1B0GTM9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

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
380398412024Role of CircCHD2 in the pathogenesis of gestational diabetes mellitus by regulating autophagy via miR-33b-3p/ULK1 axis.1
380398412024Role of CircCHD2 in the pathogenesis of gestational diabetes mellitus by regulating autophagy via miR-33b-3p/ULK1 axis.1
356272932022Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients.1
361158702022Regulation of human cortical interneuron development by the chromatin remodeling protein CHD2.2
363749582022CircCHD2/miR-200b-3p/HLF Axis Promotes Liver Cirrhosis.4
356272932022Novel Loss-of-Function Variants in CHD2 Cause Childhood-Onset Epileptic Encephalopathy in Chinese Patients.1
361158702022Regulation of human cortical interneuron development by the chromatin remodeling protein CHD2.2
363749582022CircCHD2/miR-200b-3p/HLF Axis Promotes Liver Cirrhosis.4
330227632021CHD1 and SPOP synergistically protect prostate epithelial cells from DNA damage.6
334355712021CHD2-Related CNS Pathologies.15
330227632021CHD1 and SPOP synergistically protect prostate epithelial cells from DNA damage.6
334355712021CHD2-Related CNS Pathologies.15
316771572020CHD2-related epilepsy: novel mutations and new phenotypes.10
319000312020A regulatory role for CHD2 in myelopoiesis.4
319149512020Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.3

Citation

Dessen P

CHD2 (chromodomain helicase DNA binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43209/gene-fusions/img/humanGenome