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

Homo sapiens

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

Gene ID: 3749 | Gene type: protein coding

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	Reference	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
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07111	KCNC4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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