FASTKD2 (FAST kinase domains 2)

2011-08-01  

Identity

HGNC
FASTKD2
LOCATION
2q33.3
LOCUSID
22868
ALIAS
COXPD44,KIAA0971
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22868
MIM: 612322
HGNC: 29160
Ensembl: ENSG00000118246

Variants:

dbSNP: 22868
ClinVar: 22868
TCGA: ENSG00000118246
COSMIC: FASTKD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118246ENST00000236980Q9NYY8
ENSG00000118246ENST00000236980A0A024R419
ENSG00000118246ENST00000402774Q9NYY8
ENSG00000118246ENST00000402774A0A024R419
ENSG00000118246ENST00000403094Q9NYY8
ENSG00000118246ENST00000403094A0A024R419
ENSG00000118246ENST00000418289C9JPI6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

References

Pubmed IDYearTitleCitations
357293272022A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome.1
357293272022A novel homozygous missense mutation in the FASTKD2 gene leads to Lennox-Gastaut syndrome.1
316920632020FASTKD2 promotes cancer cell progression through upregulating Myc expression in pancreatic ductal adenocarcinoma.5
319444552020Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency.14
316920632020FASTKD2 promotes cancer cell progression through upregulating Myc expression in pancreatic ductal adenocarcinoma.5
319444552020Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiency.14
290363962017The FASTK family of proteins: emerging regulators of mitochondrial RNA biology.41
290363962017The FASTK family of proteins: emerging regulators of mitochondrial RNA biology.41
253853692015FASTKD2 is associated with memory and hippocampal structure in older adults.27
263705832015FASTKD2 is an RNA-binding protein required for mitochondrial RNA processing and translation.51
253853692015FASTKD2 is associated with memory and hippocampal structure in older adults.27
263705832015FASTKD2 is an RNA-binding protein required for mitochondrial RNA processing and translation.51
254097622014Fas Activated Serine-Threonine Kinase Domains 2 (FASTKD2) mediates apoptosis of breast and prostate cancer cells through its novel FAST2 domain.11
254097622014Fas Activated Serine-Threonine Kinase Domains 2 (FASTKD2) mediates apoptosis of breast and prostate cancer cells through its novel FAST2 domain.11
214447242011A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2.39

Citation

Dessen P

FASTKD2 (FAST kinase domains 2)

Atlas Genet Cytogenet Oncol Haematol. 2011-08-01

Online version: http://atlasgeneticsoncology.org/gene/52337/favicon/favicon/manifest.json