EEF1AKMT2 (EEF1A lysine methyltransferase 2)

2017-09-01  

Identity

HGNC
EEF1AKMT2
LOCATION
10q26.13
LOCUSID
399818
ALIAS
C10orf138,Efm4,METTL10

Other Information

Locus ID:

NCBI: 399818
MIM: 617794
HGNC: 33787
Ensembl: ENSG00000203791

Variants:

dbSNP: 399818
ClinVar: 399818
TCGA: ENSG00000203791
COSMIC: EEF1AKMT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000203791ENST00000368836Q5JPI9
ENSG00000203791ENST00000464099G3V238
ENSG00000203791ENST00000466270G3V238
ENSG00000203791ENST00000495711M0QZ67
ENSG00000203791ENST00000652548A0A494BZY7

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Protein methylationREACTOMER-HSA-8876725

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
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
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83

Citation

Dessen P

EEF1AKMT2 (EEF1A lysine methyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2017-09-01

Online version: http://atlasgeneticsoncology.org/gene/79500/cancer-prone-explorer/gene-fusions-explorer/hgnc