AMDHD2 (amidohydrolase domain containing 2)

2014-11-01  

Identity

HGNC
AMDHD2
LOCATION
16p13.3
LOCUSID
51005
ALIAS
CGI-14
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51005
HGNC: 24262
Ensembl: ENSG00000162066

Variants:

dbSNP: 51005
ClinVar: 51005
TCGA: ENSG00000162066
COSMIC: AMDHD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162066ENST00000293971Q9Y303
ENSG00000162066ENST00000302956Q9Y303
ENSG00000162066ENST00000413459Q9Y303
ENSG00000162066ENST00000563556H3BSD5
ENSG00000162066ENST00000563633H3BT49
ENSG00000162066ENST00000566706H3BSV9
ENSG00000162066ENST00000568263H3BTE3
ENSG00000162066ENST00000569879H3BTZ6
ENSG00000162066ENST00000648227A0A3B3IU33

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
Amino sugar and nucleotide sugar metabolismKEGGko00520
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent proteinREACTOMER-HSA-446193
Synthesis of substrates in N-glycan biosythesisREACTOMER-HSA-446219
Synthesis of UDP-N-acetyl-glucosamineREACTOMER-HSA-446210

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

Citation

Dessen P

AMDHD2 (amidohydrolase domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60270/amdhd2-(amidohydrolase-domain-containing-2)