1. Gene
  2. KCNH6 - potassium voltage-gated channel subfamily H member 6 Gene

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

中文名称:钾电压门控通道亚家族 H 成员 6

种属: Homo sapiens

同用名: ERG2; ERG-2; HERG2; Kv11.2; hERG-2

基因 ID: 81033 | 基因类型: protein coding

关于 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.

功能概要

从功能和结构的角度来看,电压门控钾 (Kv) 通道代表了最复杂的一类电压门控离子通道。它们的不同功能包括调节神经递质释放、心率、胰岛素分泌、神经元兴奋性、上皮电解质转运、平滑肌收缩和细胞体积。该基因编码钾通道电压门控 H 亚科的一个成员。该成员是一个成孔 (alpha) 亚基。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供,2013 年 7 月]

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 基因产物(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 蛋白结构

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)

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  • 994 a.a.
蛋白主名 其他名称

potassium voltage-gated channel subfamily H member 6

eag-related gene member 2

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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