KCNH6 - potassium voltage-gated channel subfamily H member 6 Gene

Also Known as ERG2; ERG-2; HERG2; Kv11.2; hERG-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 81033

About KCNH6

Cytogenetic location: 17q23.3 Genomic coordinates (GRCh38): 17:63,523,358-63,548,992 (from NCBI)

This gene has 6 transcripts (splice variants), 179 orthologues and 17 paralogues. Biased expression in kidney (RPKM 3.1), small intestine (RPKM 1.8) and 4 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. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]

KCNH6 Products (4)

mRNA Protein Name
NM_001278919.2 NP_001265848.1 potassium voltage-gated channel subfamily H member 6 isoform 3
NM_001278920.2 NP_001265849.1 potassium voltage-gated channel subfamily H member 6 isoform 4
NM_030779.4 NP_110406.1 potassium voltage-gated channel subfamily H member 6 isoform 1
NM_173092.4 NP_775115.1 potassium voltage-gated channel subfamily H member 6 isoform 2

KCNH6 Protein Structure

PAS_9

PAS_9: PAS domain (31 - 132)

Ion_trans

Ion_trans: Ion transport protein (302 - 511)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (615 - 698)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 994 a.a.
Protein Preferred Names Protein Names

potassium voltage-gated channel subfamily H member 6

  • eag-related gene member 2

Related Diseases

Diseases Alias
Placental Choriocarcinoma
  • Choriocarcinoma Of The Placenta

Gestational Choriocarcinoma
  • Gestational Chorionepithelioma

  • Molar Pregnancy With Choriocarcinoma

Long Qt Syndrome 2
  • LQT2

  • Long Qt Syndrome, Acquired, Reduced Susceptibility To

  • Long Qt Syndrome 1/2

  • Long Qt Syndrome 2/3

  • Long Qt Syndrome 2/5

  • Long Qt Syndrome 2, Acquired, Susceptibility To

  • Long Qt Syndrome, Acquired, Reduced

  • Long Qt Syndrome Type 2

  • Long Qt Syndrome 2/9

  • Lqt1/2

  • Lqt2/3

  • Lqt2/5

  • Lqt2/9

  • Susceptibility To Acquired Long Qt Syndrome 2

  • Long Qt Syndrome-2

  • Qt Syndrome, Long, Type 2

  • Long Qt Syndrome 1-2

  • Long Qt Syndrome 2-3

  • Long Qt Syndrome 2-5

  • Long Qt Syndrome 9

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
  • Charcot-Marie-Tooth Disease Type 4

  • Charcot-Marie-Tooth Disease Type 4e

  • Hereditary Motor And Sensory Neuropathy

  • Cmt4e

  • CHN1

  • Hypomyelinating Neuropathy, Congenital, 1

  • Charcot-Marie-Tooth Neuropathy Type 4e

  • Neuropathy, Congenital Hypomyelinating, 1

  • Ar-Cmt1

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth

  • Cmt4

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

  • Hypomyelination, Severe Congenital

  • Charcot-Marie-Tooth Disease, Type 4e

  • Charcot-Marie-Tooth Neuropathy, Type 4e

  • Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy

  • Autosomal Recessive Congenital Hypomyelinating Neuropathy

  • Congenital Amyelinating Neuropathy

  • Congenital Hypomyelinating Neuropathy Autosomal Recessive

  • Neuropathy, Congenital Hypomyelinating Or Amyelinating

  • Severe Congenital Hypomyelination

  • Hereditary Sensory Motor Neuropathy

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

  • Neuropathy, Hypomyelinating, Congenital, Type 1

  • Neuropathy, Motor And Sensory, Hereditary

  • Congenital Hypomyelinating Neuropathy

  • Hereditary Motor And Sensory Neuropathies

  • Hereditary Sensorimotor Neuropathy

  • Hmsn - [Hereditary Motor And Sensory Neuropathy]

  • Hsmn - [Hereditary Sensory And Motor Neuropathy]

  • Hereditary Motor And Sensory Neuropathy, Types I-Iv

Long Qt Syndrome 1
  • Romano-Ward Syndrome

  • LQT1

  • Ward-Romano Syndrome

  • Rws

  • Ventricular Fibrillation With Prolonged Qt Interval

  • Wrs

  • Long Qt Syndrome 1, Acquired, Susceptibility To

  • Long Qt Syndrome 1, Acquired

  • Romano-Ward Long Qt Syndrome

  • Long Qt Syndrome Type 1

  • Long Qt Syndrome-1

  • Acquired Susceptibility To Long Qt Syndrome 1

  • Qt Syndrome, Long, Type 1

Long Qt Syndrome
  • Romano-Ward Syndrome

  • Long Q-T Syndrome

  • Lqt

  • Qt Syndrome, Long

  • Congenital Long Qt Syndrome

  • Familial Long Qt Syndrome

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

Orthologs Information

Species Symbol Source ID
Mus musculus KCNH6 MGD MGI:2684139
Rattus norvegicus KCNH6 RGD RGD:620304
Macaca mulatta KCNH6 VGNC VGNC:73853
Canis familiaris KCNH6 VGNC VGNC:42251
Felis catus KCNH6 VGNC VGNC:63037
Bos taurus KCNH6 VGNC VGNC:30448
Others KCNH6 NCBI