KLHL22 (kelch like family member 22)

2018-12-01  

Identity

HGNC
KLHL22
LOCATION
22q11.21
LOCUSID
84861
ALIAS
KELCHL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84861
MIM: 618020
HGNC: 25888
Ensembl: ENSG00000099910

Variants:

dbSNP: 84861
ClinVar: 84861
TCGA: ENSG00000099910
COSMIC: KLHL22

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099910ENST00000328879Q53GT1
ENSG00000099910ENST00000423364C9JRG9
ENSG00000099910ENST00000431430C9JLE9
ENSG00000099910ENST00000443285C9J5F8
ENSG00000099910ENST00000444967C9JHG1
ENSG00000099910ENST00000451553C9J191
ENSG00000099910ENST00000458248C9J2T1

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

References

Pubmed IDYearTitleCitations
297697192018KLHL22 activates amino-acid-dependent mTORC1 signalling to promote tumorigenesis and ageing.14
240673712013CUL3 and protein kinases: insights from PLK1/KLHL22 interaction.8

Citation

Dessen P

KLHL22 (kelch like family member 22)

Atlas Genet Cytogenet Oncol Haematol. 2018-12-01

Online version: http://atlasgeneticsoncology.org/gene/57774/klhl22