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

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

中文名称:钾电压门控通道亚家族 H 成员 3

种属: Homo sapiens

同用名: BEC1; ELK2; Kv12.2

基因 ID: 23416 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是电压门控钾通道 α 亚基,主要在前脑中表达。对小鼠的研究发现,当该基因被敲除时,认知功能会增强。在人类中,编码的蛋白质已被证明能够结合人类免疫缺陷病毒 1 型 (HIV-1) 包膜的糖蛋白 120。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2015 年 9 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables inward rectifier potassium channel activity IDA
IDA: 通过直接分析推断
10455180 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20638388 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in potassium ion transport IDA
IDA: 通过直接分析推断
10455180 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KCNH3 蛋白结构

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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  • 1000
  • 1083 a.a.
蛋白主名 其他名称

potassium voltage-gated channel subfamily H member 3

ELK channel 2

KCNH3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属间
KCNH3 Q9ULD8 env Human immunodeficiency virus P04578 20638388
种属间
KCNH3 Q9ULD8 env Human immunodeficiency virus P04578 20638388
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

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 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