KCTD7 (potassium channel tetramerization domain containing 7)

2014-11-01  

Identity

HGNC
KCTD7
LOCATION
7q11.21
LOCUSID
154881
ALIAS
CLN14,EPM3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 154881
MIM: 611725
HGNC: 21957
Ensembl: ENSG00000243335

Variants:

dbSNP: 154881
ClinVar: 154881
TCGA: ENSG00000243335
COSMIC: KCTD7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000243335ENST00000275532A0A1X7SBW1
ENSG00000243335ENST00000443322Q96MP8
ENSG00000243335ENST00000449064C9JTB6
ENSG00000243335ENST00000638524A0A1W2PQM8
ENSG00000243335ENST00000638540A0A1W2PR57
ENSG00000243335ENST00000639828Q96MP8
ENSG00000243335ENST00000639828A0A024RDN7
ENSG00000243335ENST00000639879A0A1W2PQL2
ENSG00000243335ENST00000640234A0A1W2PQ65
ENSG00000243335ENST00000640385A0A1W2PP71
ENSG00000243335ENST00000640601A0A1W2PQB2
ENSG00000243335ENST00000640851A0A1W2PS30

Expression (GTEx)

0
5
10
15
20
25
30
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
382313042024KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.0
387322152024KCTD Proteins Have Redundant Functions in Controlling Cellular Growth.0
382313042024KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.0
387322152024KCTD Proteins Have Redundant Functions in Controlling Cellular Growth.0
348666172022KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.4
359214112022KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.6
348666172022KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.4
359214112022KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses.6
339707442021Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.3
344698832021Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review.1
347097402021BTB/POZ domain-containing protein 7/hypoxia-inducible factor 1 alpha signalling axis modulates hepatocellular carcinoma metastasis.3
339707442021Compound heterozygous KCTD7 variants in progressive myoclonus epilepsy.3
344698832021Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review.1
347097402021BTB/POZ domain-containing protein 7/hypoxia-inducible factor 1 alpha signalling axis modulates hepatocellular carcinoma metastasis.3
302953472018KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.27

Citation

Dessen P

KCTD7 (potassium channel tetramerization domain containing 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64829