KCTD7 (potassium channel tetramerization domain containing 7)

2014-11-01 Affiliation

Identity

HGNC

KCTD7

LOCATION

7q11.21

LOCUSID

154881

ALIAS

CLN14,EPM3

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000243335	ENST00000275532	A0A1X7SBW1
ENSG00000243335	ENST00000443322	Q96MP8
ENSG00000243335	ENST00000449064	C9JTB6
ENSG00000243335	ENST00000638524	A0A1W2PQM8
ENSG00000243335	ENST00000638540	A0A1W2PR57
ENSG00000243335	ENST00000639828	Q96MP8
ENSG00000243335	ENST00000639828	A0A024RDN7
ENSG00000243335	ENST00000639879	A0A1W2PQL2
ENSG00000243335	ENST00000640234	A0A1W2PQ65
ENSG00000243335	ENST00000640385	A0A1W2PP71
ENSG00000243335	ENST00000640601	A0A1W2PQB2
ENSG00000243335	ENST00000640851	A0A1W2PS30

Expression (GTEx)

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

Pathway	Source	External ID
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Class I MHC mediated antigen processing & presentation	REACTOME	R-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradation	REACTOME	R-HSA-983168

References

Pubmed ID	Year	Title	Citations
17455289	2007	Mutation of a potassium channel-related gene in progressive myoclonic epilepsy.	26
22748208	2012	A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.	25
22693283	2012	Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene.	21
27742667	2016	Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.	8
25060828	2014	Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.	6
27629772	2016	KCTD7-related progressive myoclonus epilepsy.	5
30295347	2018	KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.	5

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/kctd7