KCTD7 - potassium channel tetramerization domain containing 7 Gene

Also Known as EPM3; CLN14

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 154881

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	References	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	References	Source
involved in intracellular glutamate homeostasis	IMP IMP: Inferred from mutant phenotype	27742667	GOA

Cellular Component GO Annotation	Evidence	References	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

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 Set	/	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
Others	KCTD7	NCBI