KCTD15 (potassium channel tetramerization domain containing 15)

2014-11-01  

Identity

HGNC
KCTD15
LOCATION
19q13.11
LOCUSID
79047
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79047
MIM: 615240
HGNC: 23297
Ensembl: ENSG00000153885

Variants:

dbSNP: 79047
ClinVar: 79047
TCGA: ENSG00000153885
COSMIC: KCTD15

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153885ENST00000284006Q96SI1
ENSG00000153885ENST00000430256Q96SI1
ENSG00000153885ENST00000587559K7EN63
ENSG00000153885ENST00000587658K7EM48
ENSG00000153885ENST00000588637K7EQS3
ENSG00000153885ENST00000588881Q96SI1
ENSG00000153885ENST00000589786Q96SI1
ENSG00000153885ENST00000590385V9GYY8
ENSG00000153885ENST00000590771K7EIF1
ENSG00000153885ENST00000590906K7EPF0

Expression (GTEx)

0
10
20
30
40
50
60
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
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factorsREACTOMER-HSA-8864260
Negative regulation of activity of TFAP2 (AP-2) family transcription factorsREACTOMER-HSA-8866904

References

Pubmed IDYearTitleCitations
382966332024BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.0
382966332024BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.0
381131152023KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis.3
381131152023KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis.3
345219192021KCTD15 deregulation is associated with alterations of the NF-κB signaling in both pathological and physiological model systems.5
345219192021KCTD15 deregulation is associated with alterations of the NF-κB signaling in both pathological and physiological model systems.5
289480792017Influence of TFAP2B and KCTD15 genetic variability on personality dimensions in anorexia and bulimia nervosa.8
289480792017Influence of TFAP2B and KCTD15 genetic variability on personality dimensions in anorexia and bulimia nervosa.8
256377212015Genetic variations in SEC16B, MC4R, MAP2K5 and KCTD15 were associated with childhood obesity and interacted with dietary behaviors in Chinese school-age population.22
256377212015Genetic variations in SEC16B, MC4R, MAP2K5 and KCTD15 were associated with childhood obesity and interacted with dietary behaviors in Chinese school-age population.22
231210872013Sex-dependent associations of genetic variants identified by GWAS with indices of adiposity and obesity risk in a Chinese children population.12
233822132013Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2.39
240864242013The BTB-containing protein Kctd15 is SUMOylated in vivo.5
231210872013Sex-dependent associations of genetic variants identified by GWAS with indices of adiposity and obesity risk in a Chinese children population.12
233822132013Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2.39

Citation

Dessen P

KCTD15 (potassium channel tetramerization domain containing 15)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64820/kctd15-(potassium-channel-tetramerization-domain-containing-15)