CHDH (choline dehydrogenase)

2007-02-01  

Identity

HGNC
CHDH
LOCATION
3p21.1
LOCUSID
55349
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55349
HGNC: 24288
Ensembl: ENSG00000016391

Variants:

dbSNP: 55349
ClinVar: 55349
TCGA: ENSG00000016391
COSMIC: CHDH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000016391ENST00000315251Q8NE62
ENSG00000016391ENST00000467802C9JYW4
ENSG00000016391ENST00000481668C9J7D8

Expression (GTEx)

0
5
10
15
20
25
30
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
Glycine, serine and threonine metabolismKEGGko00260
Glycine, serine and threonine metabolismKEGGhsa00260
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
Glycerophospholipid biosynthesisREACTOMER-HSA-1483206
Choline catabolismREACTOMER-HSA-6798163

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 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
168161082006Common genetic polymorphisms affect the human requirement for the nutrient choline.82
182306802008Choline metabolism and risk of breast cancer in a population-based study.48
182306802008Choline metabolism and risk of breast cancer in a population-based study.48
254839622014Choline dehydrogenase interacts with SQSTM1/p62 to recruit LC3 and stimulate mitophagy.31
179751442007The prognostic biomarkers HOXB13, IL17BR, and CHDH are regulated by estrogen in breast cancer.30
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
197377402010Associations of folate and choline metabolism gene polymorphisms with orofacial clefts.23
200316402009Single nucleotide polymorphisms in homocysteine metabolism pathway genes: association of CHDH A119C and MTHFR C677T with hyperhomocysteinemia.17
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
206629042010Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts.12

Citation

Dessen P

CHDH (choline dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/50023/chdh