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
275621782017Identification of a Bipolar Disorder Vulnerable Gene CHDH at 3p21.1.5
276773622017Choline metabolic pathway gene polymorphisms and risk for Down syndrome: An association study in a population with folate-homocysteine metabolic impairment.5
285093222017Polymorphic variants of genes involved in choline pathway and the risk of intrauterine fetal death.1
275621782017Identification of a Bipolar Disorder Vulnerable Gene CHDH at 3p21.1.5
276773622017Choline metabolic pathway gene polymorphisms and risk for Down syndrome: An association study in a population with folate-homocysteine metabolic impairment.5
285093222017Polymorphic variants of genes involved in choline pathway and the risk of intrauterine fetal death.1
254839622014Choline dehydrogenase interacts with SQSTM1/p62 to recruit LC3 and stimulate mitophagy.60
254839622014Choline dehydrogenase interacts with SQSTM1/p62 to recruit LC3 and stimulate mitophagy.60
223878812012Phosphatidylethanolamine N-methyltransferase and choline dehydrogenase gene polymorphisms are associated with human sperm concentration.5
225583212012Choline dehydrogenase polymorphism rs12676 is a functional variation and is associated with changes in human sperm cell function.20
223878812012Phosphatidylethanolamine N-methyltransferase and choline dehydrogenase gene polymorphisms are associated with human sperm concentration.5
225583212012Choline dehydrogenase polymorphism rs12676 is a functional variation and is associated with changes in human sperm cell function.20
213089792011Polymorphisms in CHDH gene and the risk of tooth agenesis.2
213089792011Polymorphisms in CHDH gene and the risk of tooth agenesis.2
197377402010Associations of folate and choline metabolism gene polymorphisms with orofacial clefts.25

Citation

Dessen P

CHDH (choline dehydrogenase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/50023/chdh-(choline-dehydrogenase)