ALKBH8 (alkB homolog 8, tRNA methyltransferase)

2006-05-01  

Identity

HGNC
ALKBH8
LOCATION
11q22.3
LOCUSID
91801
ALIAS
ABH8,MRT71,TRM9,TRMT9,TRMT9A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 91801
MIM: 613306
HGNC: 25189
Ensembl: ENSG00000137760

Variants:

dbSNP: 91801
ClinVar: 91801
TCGA: ENSG00000137760
COSMIC: ALKBH8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137760ENST00000260318Q96BT7
ENSG00000137760ENST00000389568Q96BT7
ENSG00000137760ENST00000393100C9JQN2
ENSG00000137760ENST00000417449Q96BT7
ENSG00000137760ENST00000428149Q96BT7
ENSG00000137760ENST00000429370Q96BT7

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
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
tRNA processingREACTOMER-HSA-72306
tRNA modification in the nucleus and cytosolREACTOMER-HSA-6782315

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
381891982024The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders.0
381891982024The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders.0
347574922022Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant.6
361921312022HITS-CLIP analysis of human ALKBH8 reveals interactions with fully processed substrate tRNAs and with specific noncoding RNAs.2
347574922022Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant.6
361921312022HITS-CLIP analysis of human ALKBH8 reveals interactions with fully processed substrate tRNAs and with specific noncoding RNAs.2
335449542021Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.10
335449542021Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant.10
317658882020Loss of epitranscriptomic control of selenocysteine utilization engages senescence and mitochondrial reprogramming(☆).19
317658882020Loss of epitranscriptomic control of selenocysteine utilization engages senescence and mitochondrial reprogramming(☆).19
310798982019Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification.20
310798982019Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification.20
273298102016ALKBH8 promotes bladder cancer growth and progression through regulating the expression of survivin.16
273298102016ALKBH8 promotes bladder cancer growth and progression through regulating the expression of survivin.16
212859502011ALKBH8-mediated formation of a novel diastereomeric pair of wobble nucleosides in mammalian tRNA.81

Citation

Dessen P

ALKBH8 (alkB homolog 8, tRNA methyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2006-05-01

Online version: http://atlasgeneticsoncology.org/gene/43082