KCTD7 - potassium channel tetramerization domain containing 7 Gene

Homo sapiens

Also known as EPM3; CLN14

Gene ID: 154881 | Gene type: protein coding

About KCTD7

Cytogenetic location: 7q11.21 Genomic coordinates (GRCh38): 7:66,628,881-66,643,229 (from NCBI)

This gene has 11 transcripts (splice variants), 188 orthologues, 13 paralogues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 11.8), brain (RPKM 8.8) and 23 other tissues.

Summary

This gene encodes a member of the Potassium Channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated Potassium Channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]

KCTD7 Products(2)

mRNA	Protein	Name
NM_001167961.2	NP_001161433.1	BTB/POZ domain-containing protein KCTD7 isoform 2
NM_153033.5	NP_694578.1	BTB/POZ domain-containing protein KCTD7 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	22748208	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in intracellular glutamate homeostasis	IMP IMP: Inferred from mutant phenotype	27742667	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	22748208	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	22748208	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCTD7 Protein Structure

BTB_2

0
100
200
289 a.a.

Protein Preferred Names

Protein Names

BTB/POZ domain-containing protein KCTD7

potassium channel tetramerisation domain containing 7

Related Diseases

Diseases

Alias

Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions

EPM3	Cln14
Epilepsy, Progressive Myoclonic 3, With Or Without Intracellular Inclusions	Ceroid Lipofuscinosis, Neuronal, 14
Neuronal Ceroid Lipofuscinosis 14	Progressive Myoclonic Epilepsy 3
Epilepsy, Progressive Myoclonic 3

Epilepsy Progressive Myoclonic Type 3

Progressive Myoclonic Epilepsy Type 3	Epm 3
Progressive Myoclonic Epilepsy 3	Cln14 Disease
Epm3	Pme Type 3
Progressive Myoclonic Epilepsy Due To Kctd7 Deficiency	Progressive Myoclonus Epilepsy Type 3
Epilepsy, Myoclonic, Progressive, Type 3

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Progressive Myoclonus Epilepsy 3

Cln14 Disease	Epm3
Neuronal Ceroid Lipofuscinosis 14	Pme Type 3
Progressive Myoclonic Epilepsy Due To Kctd7 Deficiency	Progressive Myoclonus Epilepsy Type 3
Epilepsy, Progressive Myoclonic 3

Ceroid Lipofuscinosis, Neuronal, 11

Neuronal Ceroid Lipofuscinosis 11	CLN11
Cln11 Disease	Grn-Related Neuronal Ceroid-Lipofuscinosis
Lipofuscinosis, Ceroid, Neuronal, Type 11

Epilepsy, Idiopathic Generalized 5

EIG5	Epilepsy, Idiopathic Generalized, Susceptibility To, 5
Idiopathic Generalized Epilepsy 5	Epilepsy, Idiopathic Generalized Locus On Chromosome 10
Epilepsy, Idiopathic Generalized, Susceptibility To, Locus On Chromosome 10

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Myoclonus

Spinocerebellar Ataxia, Autosomal Recessive 7

SCAR7	Autosomal Recessive Spinocerebellar Ataxia 7
Spinocerebellar Ataxia Autosomal Recessive 7	Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Autosomal Recessive Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia, Autosomal Recessive, 7	Ataxia, Spinocerebellar, Autosomal Recessive, Type 7

Progressive Myoclonus Epilepsy 1b

Epm1b

Progressive Myoclonus Epilepsy 1a

Epm1a

Ceroid Lipofuscinosis, Neuronal, 6b

CLN4A	Neuronal Ceroid Lipofuscinosis 4a
CLN6B	Neuronal Ceroid Lipofuscinosis 6b
Autosomal Recessive Neuronal Ceroid Lipofuscinosis 4a	Cln4a Disease
Ceroid Lipofuscinosis, Neuronal, 4a , Autosomal Recessive	Adult Neuronal Ceroid Lipofuscinosis
Cln6 Disease Kufs Type A	Kufs Disease
Kufs Disease Autosomal Recessive	Kufs Disease, Autosomal Recessive

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Northern Epilepsy	Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant
Epmr	Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Northern Epilepsy Syndrome	Epilepsy, Progressive, With Mental Retardation
Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant	Progressive Epilepsy With Mental Retardation, Northern Epilepsy
Cln8 Disease, Northern Epilepsy Variant	Ncl, Northern Epilepsy Variant
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant	CLN8NE
Ceroid Lipofuscinosis, Neuronal, 8

Progressive Myoclonus Epilepsy 6

Progressive Myoclonic Epilepsy Type 6	Epm6
Gosr2-Related Progressive Myoclonus Ataxia	North Sea Progressive Myoclonus Epilepsy
Pme Type 6	Progressive Myoclonus Epilepsy Type 6
Epilepsy, Progressive Myoclonic, 6

Progressive Myoclonus Epilepsy 4

Action Myoclonus-Renal Failure Syndrome	Amrf
Epm4	Myoclonus-Nephropathy Syndrome

Ceroid Lipofuscinosis, Neuronal, 3

Batten Disease	Juvenile Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis 3	CLN3
Jncl	Spielmeyer-Vogt Disease
Vogt-Spielmeyer Disease	Spielmeyer-Sjogren Disease
Cln3 Disease	Neuronal Ceroid Lipofuscinosis, Juvenile
Cln3 Disease, Juvenile	Spielmeyer Sjogren Disease
Vogt Spielmeyer Disease	Batten-Mayou Disease
Batten-Spielmeyer-Vogt Disease	Cln3-Related Neuronal Ceroid-Lipofuscinosis
Juvenile Batten Disease	Juvenile Cerebroretinal Degeneration
Classic Juvenile Ncl	Classic Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Ncl	Lipofuscinosis, Ceroid, Neuronal, Type 3

Scalp-Ear-Nipple Syndrome

Finlay-Marks Syndrome	Sen Syndrome
SENS	Scalp Ear Nipple Syndrome
Hereditary Syndrome Of Lumpy Scalp, Odd Ears And Rudimentary Nipples	Hereditary Syndrome Of Lumpy Scalp, Odd Ears, And Rudimentary Nipples
Indian Childhood Cirrhosis

Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy

Jankovic-Rivera Syndrome	SMAPME
Sma-Pme	Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Hereditary Myoclonus-Progressive Distal Muscular Atrophy Syndrome	Hereditary Myoclonus With Progressive Distal Muscular Atrophy
Jankovic Rivera Syndrome	Myoclonus, Hereditary, With Progressive Distal Muscular Atrophy
Myoclonus Hereditary Progressive Distal Muscular Atrophy	Atrophy, Muscular, Spinal, With Progressive Myoclonic Epilepsy

Ceroid Lipofuscinosis, Neuronal, 13

Neuronal Ceroid Lipofuscinosis 13	CLN13
Neuronal Ceroid Lipofuscinosis 13 Kufs Type	Cln13 Disease
Lipofuscinosis, Ceroid, Neuronal, Type 13

Ceroid Lipofuscinosis, Neuronal, 7

CLN7	Neuronal Ceroid Lipofuscinosis 7
Cln7 Disease	Cln7 Disease, Late Infantile
Mfsd8-Related Neuronal Ceroid Lipofuscinosis	Turkish Variant Late Infantile Ncl
Lipofuscinosis, Ceroid, Neuronal, Type 7

Ceroid Lipofuscinosis, Neuronal, 10

Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency	Neuronal Ceroid Lipofuscinosis 10
CLN10	Cathepsin D Deficiency
Congenital Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient
Cln10 Disease	Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient
Cln10 Disease, Adult	Cln10 Disease, Congenital
Cln10 Disease, Juvenile	Cln10 Disease, Late Infantile
Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient	Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis
Congenital Ncl	Lipofuscinosis, Ceroid, Neuronal, Type 10
Neuronal Ceroid Lipofuscinosis, Congenital

Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease	Epm1
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus Progressive Epilepsy Of Unverricht And Lundborg
Unverricht - Lundborg Disease	Unverricht'S Disease
Epilepsy, Progressive Myoclonic Type 1	Epilepsy, Progressive Myoclonus 1
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy	Baltic Myoclonic Epilepsy
Baltic Myoclonus	Baltic Myoclonus Epilepsy
Lundborg-Unverricht Syndrome	Mediterranean Myoclonic Epilepsy
Pme	Progressive Myoclonic Epilepsy
Progressive Myoclonus Epilepsy 1	Uld
Myoclonic Epilepsies, Progressive

Visual Epilepsy

Seizures	Epilepsy, Visual
Visual Seizure	Acute Symptomatic Seizure
Provoked Seizure	Nonepileptic Seizure Disorder
Uncontrolled Seizures	Seizure Nos
Fits Nos	Onset Seizure Nos
Seizure Disturbance

Neonatal Period Electroclinical Syndrome

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

Mucopolysaccharidosis, Type Iiia

Mucopolysaccharidosis Type Iiia	MPS3A
Mps Iiia	Sanfilippo Syndrome A
Heparan Sulfate Sulfatase Deficiency	Sulfamidase Deficiency
Heparan Sulfamidase Deficiency	Mpsiiia
Mucopolysaccharidosis Type 3a	Sanfilippo Syndrome Type A
Mucopolysaccharidosis Iii-A	Heparane Sulfamidase Deficiency
Mps 3a	Mucopoly-Saccharidosis Type 3a
Mps Iii-A	Mucopolysaccharidosis 3a
Mucopolysaccharidosis Iii

Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome	MERRF
Fukuhara Syndrome	Myoclonic Epilepsy Associated With Ragged Red Fibers
Myoencephalopathy Ragged-Red Fiber Disease	Myoclonic Epilepsy - Ragged Red Fibers
Myoclonus Epilepsy And Ragged Red Fibers	Myoclonus With Epilepsy And With Ragged Red Fibers
Myoclonic Epilepsy With Ragged Red Fibers	Myoclonic Epilepsy With Ragged-Red Fibers
Fukuhara Disease	Myoclonus Epilepsy Associated With Ragged-Red Fibres
Myoclonus With Epilepsy With Ragged Red Fibers

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07198	KCTD7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	KCTD7	VGNC	VGNC:30515
Macaca mulatta	KCTD7	VGNC	VGNC:73883
Felis catus	KCTD7	VGNC	VGNC:107758
Mus musculus	KCTD7	MGD	MGI:2442265
Rattus norvegicus	KCTD7	RGD	RGD:1582914