KCNC4 - potassium voltage-gated channel subfamily C member 4 Gene

Also Known as KV3.4; C1orf30; KSHIIIC; HKSHIIIC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3749

About KCNC4

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:110,210,314-110,284,080 (from NCBI)

This gene has 8 transcripts (splice variants), 208 orthologues and 31 paralogues. Ubiquitous expression in brain (RPKM 4.0), kidney (RPKM 3.0) and 24 other tissues.

Summary

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. It generates atypical voltage-dependent transient current that may be important for neuronal excitability. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

KCNC4 Products (4)

mRNA	Protein	Name
NM_001039574.3	NP_001034663.1	potassium voltage-gated channel subfamily C member 4 isoform c
NM_001377330.1	NP_001364259.1	potassium voltage-gated channel subfamily C member 4 isoform d
NM_001377331.1	NP_001364260.1	potassium voltage-gated channel subfamily C member 4 isoform e
NM_004978.6	NP_004969.2	potassium voltage-gated channel subfamily C member 4 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	29507146	GOA
enables voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	7993631	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

KCNC4 Protein Structure

Potassium_chann

BTB_2

Ion_trans

0
100
200
300
400
500
600
635 a.a.

Protein Preferred Names	Protein Names
potassium voltage-gated channel subfamily C member 4	K+ channel subunit

Related Diseases

Diseases	Alias
Congenital Disorder Of Glycosylation, Type Iic	CDG2C Congenital Disorder Of Glycosylation Type Iic Leukocyte Adhesion Deficiency Type Ii Cdg Iic Cdgiic Rambam-Hasharon Syndrome Leukocyte Adhesion Deficiency, Type Ii Lad2 Leukocyte Adhesion Deficiency 2 Cdg-Iic Congenital Disorder Of Glycosylation, Type 2c Rhs Cdg Syndrome Type Iic Lad-Ii Rambam Hasharon Syndrome Congenital Disorder Of Glycosylation 2c Glycosylation, Congenital Disorder Of, Type Iic
Spinocerebellar Ataxia 13	Spinocerebellar Ataxia Type 13 SCA13 Autosomal Dominant Cerebellar Ataxia With Intellectual Disability Cerebellar Ataxia, Autosomal Dominant With Intellectual Disability Spinocerebellar Ataxia-13 Ataxia, Spinocerebellar, Type 13
Progressive Myoclonus Epilepsy 7	Epm7 Meak Myoclonus Epilepsy And Ataxia Due To Potassium Channel Mutation Pme Type 7 Progressive Myoclonic Epilepsy Due To Kv3.1 Deficiency Progressive Myoclonus Epilepsy Type 7

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-RS07111	KCNC4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	KCNC4	VGNC	VGNC:42238
Macaca mulatta	KCNC4	VGNC	VGNC:73974
Mus musculus	KCNC4	MGD	MGI:96670
Bos taurus	KCNC4	VGNC	VGNC:30433
Rattus norvegicus	KCNC4	RGD	RGD:1589169
Felis catus	KCNC4	VGNC	VGNC:67900
Others	KCNC4	NCBI