2. Gene
  3. KCNH3 - potassium voltage-gated channel subfamily H member 3 Gene

KCNH3 - potassium voltage-gated channel subfamily H member 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as BEC1; ELK2; Kv12.2

Gene ID: 23416 | Gene type: protein coding

About KCNH3

Cytogenetic location: 12q13.12 Genomic coordinates (GRCh38): 12:49,539,030-49,558,337 (from NCBI)

This gene has 5 transcripts (splice variants), 233 orthologues and 17 paralogues. Biased expression in brain (RPKM 7.0), testis (RPKM 0.9) and 2 other tissues.

Summary

The protein encoded by this gene is a voltage-gated Potassium Channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gene is knocked out. In humans, the encoded protein has been shown to be capable of binding glycoprotein 120 of the human immunodeficiency virus type 1 (HIV-1) envelope. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]

KCNH3 Products(2)

mRNA Protein Name
NM_001314030.2 NP_001300959.1 potassium voltage-gated channel subfamily H member 3 isoform 2
NM_012284.3 NP_036416.1 potassium voltage-gated channel subfamily H member 3 isoform 1

KCNH3 Protein Structure

PAS_9

PAS_9: PAS domain (40 - 135)

Ion_trans

Ion_trans: Ion transport protein (264 - 500)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (603 - 686)

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  • 1083 a.a.
Protein Preferred Names Protein Names

potassium voltage-gated channel subfamily H member 3

ELK channel 2

Related Diseases

Diseases Alias
Deafness, Autosomal Dominant 2a

DFNA2A

Autosomal Dominant Nonsyndromic Deafness 2a

Autosomal Dominant Deafness 2a

Deafness, Autosomal Dominant, 2a

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 2a

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 2a

Deafness, Autosomal Dominant, Type 2a
Chronic Wasting Disease

Wasting Disease, Chronic
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 (2)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-122015 ASP2905 Inhibitor 99.77% Unkown
HY-RS07127 KCNH3 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus KCNH3 MGD MGI:1341723
Macaca mulatta KCNH3 VGNC VGNC:73981
Rattus norvegicus KCNH3 RGD RGD:71070
Bos taurus KCNH3 VGNC VGNC:30445
Felis catus KCNH3 VGNC VGNC:67908
Canis familiaris KCNH3 VGNC VGNC:49915