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

Homo sapiens

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

Gene ID: 81033 | Gene type: protein coding

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

Ion_trans

cNMP_binding

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07129	KCNH6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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