2. Gene
  3. KCNH7 - potassium voltage-gated channel subfamily H member 7 Gene

KCNH7 - potassium voltage-gated channel subfamily H member 7 Gene

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

Also known as ERG3; HERG3; Kv11.3

Gene ID: 90134 | Gene type: protein coding

About KCNH7

Cytogenetic location: 2q24.2 Genomic coordinates (GRCh38): 2:162,371,407-162,838,767 (from NCBI)

This gene has 4 transcripts (splice variants), 290 orthologues and 17 paralogues. Biased expression in brain (RPKM 1.6), testis (RPKM 0.5) and 3 other tissues.

Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, Insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the Potassium Channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]

KCNH7 Products(2)

mRNA Protein Name
NM_033272.4 NP_150375.2 potassium voltage-gated channel subfamily H member 7 isoform 1
NM_173162.3 NP_775185.1 potassium voltage-gated channel subfamily H member 7 isoform 2

KCNH7 Protein Structure

PAS_9

PAS_9: PAS domain (31 - 134)

Ion_trans

Ion_trans: Ion transport protein (453 - 662)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (766 - 850)

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  • 1196 a.a.
Protein Preferred Names Protein Names

potassium voltage-gated channel subfamily H member 7

ERG-3

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 1a

DFNB1A

Deafness, Digenic, Gjb2/Gjb3

Autosomal Recessive Nonsyndromic Deafness 1a

Deafness, Digenic, Gjb2/Gjb6

Deafness, Digenic Gjb2/Gjb6

Autosomal Recessive Deafness 1a

Deafness, Autosomal Recessive, 1a

Deafness Digenic Gjb2/Gjb3

Deafness Digenic Gjb2/Gjb6

Deafness Neurosensory Autosomal Recessive 1

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1

Nsrd1

Deafness, Autosomal Recessive, Type 1a
Pseudohypoaldosteronism, Type I, Autosomal Recessive

Autosomal Recessive Pseudohypoaldosteronism Type 1

PHA1B

Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism, Type I

Generalized Pha1

Generalized Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism Type 1 Autosomal Recessive

Pha1

Pseudohypoaldosteronism

Pha I, Autosomal Recessive

Autosomal Recessive Pha 1

Pseudohypoaldosteronism Type 1, Recessive

Pseudohypoaldosteronism Type I

Autosomal Recessive Pha1

Pha Type 1

Pseudohypoaldosteronism 1, Autosomal Recessive

Multisystem Pseudohypoaldosteronism

Pha Type I, Autosomal Recessive

Pseudohypoaldosteronism Type I, Autosomal Recessive
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-RS07130 KCNH7 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus KCNH7 RGD RGD:621112
Bos taurus KCNH7 VGNC VGNC:30449
Macaca mulatta KCNH7 VGNC VGNC:73854
Canis familiaris KCNH7 VGNC VGNC:42252
Mus musculus KCNH7 MGD MGI:2159566
Felis catus KCNH7 VGNC VGNC:63038