CHD3 (chromodomain helicase DNA binding protein 3)

2003-05-01  

Identity

HGNC
CHD3
LOCATION
17p13.1
LOCUSID
1107
ALIAS
Mi-2a,Mi2-ALPHA,SNIBCPS,ZFH
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1107
MIM: 602120
HGNC: 1918
Ensembl: ENSG00000170004

Variants:

dbSNP: 1107
ClinVar: 1107
TCGA: ENSG00000170004
COSMIC: CHD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170004ENST00000330494Q12873
ENSG00000170004ENST00000358181Q12873
ENSG00000170004ENST00000380358Q12873
ENSG00000170004ENST00000439235H7C0J3
ENSG00000170004ENST00000449744H7C3H7
ENSG00000170004ENST00000452447H7C2H0
ENSG00000170004ENST00000470531K7EPV1
ENSG00000170004ENST00000571249I3L1I4
ENSG00000170004ENST00000573936I3L229

Expression (GTEx)

0
50
100
150
200
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
salivary gland
esophagus
stomach 1
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
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
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381167502024A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings.0
381167502024A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings.0
377618042023Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.0
377618042023Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.0
353465732022Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.8
353465732022Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.8
334037472021Sequence and functional differences in the ATPase domains of CHD3 and SNF2H promise potential for selective regulability and drugability.0
334037472021Sequence and functional differences in the ATPase domains of CHD3 and SNF2H promise potential for selective regulability and drugability.0
324833412020A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.15
324833412020A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.15
309717212019A Multi-Trait Approach Identified Genetic Variants Including a Rare Mutation in RGS3 with Impact on Abnormalities of Cardiac Structure/Function.3
309717212019A Multi-Trait Approach Identified Genetic Variants Including a Rare Mutation in RGS3 with Impact on Abnormalities of Cardiac Structure/Function.3
300823172018The SUMO protease SENP1 and the chromatin remodeler CHD3 interact and jointly affect chromatin accessibility and gene expression.10
300823172018The SUMO protease SENP1 and the chromatin remodeler CHD3 interact and jointly affect chromatin accessibility and gene expression.10
289776662017CHD3 and CHD4 form distinct NuRD complexes with different yet overlapping functionality.47

Citation

Dessen P

CHD3 (chromodomain helicase DNA binding protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40071