ALKBH2 (alkB homolog 2, alpha-ketoglutarate dependent dioxygenase)

2012-12-01  

Identity

HGNC
ALKBH2
LOCATION
12q24.11
LOCUSID
121642
ALIAS
ABH2

Other Information

Locus ID:

NCBI: 121642
MIM: 610602
HGNC: 32487
Ensembl: ENSG00000189046

Variants:

dbSNP: 121642
ClinVar: 121642
TCGA: ENSG00000189046
COSMIC: ALKBH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000189046ENST00000343075Q6NS38
ENSG00000189046ENST00000429722Q6NS38
ENSG00000189046ENST00000440112Q6NS38
ENSG00000189046ENST00000536242F5H5X2
ENSG00000189046ENST00000536358F5GZZ0
ENSG00000189046ENST00000543444S4R3T5
ENSG00000189046ENST00000619381Q6NS38

Expression (GTEx)

0
5
10
15
20
25
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
DNA RepairREACTOMER-HSA-73894
DNA Damage ReversalREACTOMER-HSA-73942
Reversal of alkylation damage by DNA dioxygenasesREACTOMER-HSA-73943
ALKBH2 mediated reversal of alkylation damageREACTOMER-HSA-112122

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
184322382008Crystal structures of DNA/RNA repair enzymes AlkB and ABH2 bound to dsDNA.101
200426012010Nickel ions inhibit histone demethylase JMJD1A and DNA repair enzyme ABH2 by replacing the ferrous iron in the catalytic centers.44
185196732008AlkB homologue 2-mediated repair of ethenoadenine lesions in mammalian DNA.40
232588432013The DNA repair protein ALKBH2 mediates temozolomide resistance in human glioblastoma cells.29
182703392008Comprehensive analysis of DNA repair gene variants and risk of meningioma.22
220791222012Direct repair of 3,N(4)-ethenocytosine by the human ALKBH2 dioxygenase is blocked by the AAG/MPG glycosylase.22
226598762012Duplex interrogation by a direct DNA repair protein in search of base damage.17
207145062010Mechanistic insight into the recognition of single-stranded and double-stranded DNA substrates by ABH2 and ABH3.14
192904812009Pediatric brain tumors: mutations of two dioxygenases (hABH2 and hABH3) that directly repair alkylation damage.11
215106332011X-ray absorption spectroscopy structural investigation of early intermediates in the mechanism of DNA repair by human ABH2.11

Citation

Dessen P

ALKBH2 (alkB homolog 2, alpha-ketoglutarate dependent dioxygenase)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53082/alkbh2