KCNC2 - potassium voltage-gated channel subfamily C member 2 Gene

Also Known as KV3.2; DEE103

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3747

About KCNC2

Cytogenetic location: 12q21.1 Genomic coordinates (GRCh38): 12:75,040,078-75,209,839 (from NCBI)

This gene has 10 transcripts (splice variants), 216 orthologues and 31 paralogues. Restricted expression toward brain (RPKM 14.9).

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 one of these subfamilies, namely 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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

KCNC2 Products (17)

mRNA Protein Name
NM_001260497.2 NP_001247426.1 potassium voltage-gated channel subfamily C member 2 isoform 4
NM_001260498.2 NP_001247427.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2d
NM_001260499.2 NP_001247428.1 potassium voltage-gated channel subfamily C member 2 isoform 6
NM_001414192.1 NP_001401121.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2b
NM_001414193.1 NP_001401122.1 potassium voltage-gated channel subfamily C member 2 isoform 7
NM_001414194.1 NP_001401123.1 potassium voltage-gated channel subfamily C member 2 isoform 8
NM_001414195.1 NP_001401124.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2a
NM_001414196.1 NP_001401125.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2a
NM_001414197.1 NP_001401126.1 potassium voltage-gated channel subfamily C member 2 isoform 9
NM_001414198.1 NP_001401127.1 potassium voltage-gated channel subfamily C member 2 isoform 10
NM_001414199.1 NP_001401128.1 potassium voltage-gated channel subfamily C member 2 isoform 11
NM_001414202.1 NP_001401131.1 potassium voltage-gated channel subfamily C member 2 isoform 9
NM_001414206.1 NP_001401135.1 potassium voltage-gated channel subfamily C member 2 isoform 9
NM_001414213.1 NP_001401142.1 potassium voltage-gated channel subfamily C member 2 isoform 9
NM_139136.4 NP_631874.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2a
NM_139137.4 NP_631875.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2b
NM_153748.3 NP_715624.1 potassium voltage-gated channel subfamily C member 2 isoform KV3.2c

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables voltage-gated potassium channel activity IDA
IDA: Inferred from direct assay
15709110 GOA
Biological Process GO Annotation Evidence References Source
involved in potassium ion transport IDA
IDA: Inferred from direct assay
15709110 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

KCNC2 Protein Structure

BTB_2

BTB_2: BTB/POZ domain (10 - 151)

Ion_trans

Ion_trans: Ion transport protein (284 - 472)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 638 a.a.
Protein Preferred Names Protein Names

potassium voltage-gated channel subfamily C member 2

  • potassium channel, voltage gated Shaw related subfamily C, member 2

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 103

  • DEE103
Developmental And Epileptic Encephalopathy

  • Encephalopathy, Developmental And Epileptic
Extratemporal Epilepsy
Early Infantile Epileptic Encephalopathy

  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile
Retinitis Pigmentosa 23

  • RP23

  • Retinitis Pigmentosa-23

  • Retinitis Pigmentosa, Type 23

  • Rp23 Gene
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
Immunodeficiency 18

  • IMD18

  • Cd3-Epsilon Deficiency

  • Immunodeficiency 18, Scid Variant

  • Cd3epsilon Deficiency

  • Immunodeficiency 18, Severe Combined Immunodeficiency Variant

  • Immunodeficiency, Type 18
Developmental And Epileptic Encephalopathy 13

  • Epileptic Encephalopathy, Early Infantile, 13

  • DEE13

  • Eiee13

  • Developmental And Epileptic Encephalopathy, 13

  • Early Infantile Epileptic Encephalopathy 13

  • Scn8a Encephalopathy

  • Early Infantile Epileptic Encephalopathy-13

  • Scn8a Epilepsy

  • Encephalopathy, Developmental And Epileptic, Type 13
Early Onset Absence Epilepsy
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-RS07109 KCNC2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus KCNC2 RGD RGD:628829
Felis catus KCNC2 VGNC VGNC:84044
Macaca mulatta KCNC2 VGNC VGNC:73972
Canis familiaris KCNC2 VGNC VGNC:42237
Mus musculus KCNC2 MGD MGI:96668