KLHL12 (kelch like family member 12)

2014-11-01  

Identity

HGNC
KLHL12
LOCATION
1q32.1
LOCUSID
59349
ALIAS
C3IP1,DKIR
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 59349
MIM: 614522
HGNC: 19360
Ensembl: ENSG00000117153

Variants:

dbSNP: 59349
ClinVar: 59349
TCGA: ENSG00000117153
COSMIC: KLHL12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117153ENST00000367258J3QSX3
ENSG00000117153ENST00000367259Q9H7R2
ENSG00000117153ENST00000367261Q53G59

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Signal TransductionREACTOMER-HSA-162582
Signaling by WntREACTOMER-HSA-195721
TCF dependent signaling in response to WNTREACTOMER-HSA-201681
Degradation of DVLREACTOMER-HSA-4641258

References

Pubmed IDYearTitleCitations
183030152008BTB Protein KLHL12 targets the dopamine D4 receptor for ubiquitination by a Cul3-based E3 ligase.31
195361752009Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.30
278996532017Control of the negative IRES trans-acting factor KHSRP by ubiquitination.4
153833162004hDKIR, a human homologue of the Drosophila kelch protein, involved in a ring-like structure.3
267175732015KLHL12 Promotes Non-Lysine Ubiquitination of the Dopamine Receptors D4.2 and D4.4, but Not of the ADHD-Associated D4.7 Variant.3
271553232016Characterization of the interaction between the dopamine D4 receptor, KLHL12 and β-arrestins.2

Citation

Dessen P

KLHL12 (kelch like family member 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64960/klhl12