1. Gene
  2. KCNK2 - potassium two pore domain channel subfamily K member 2 Gene

KCNK2 - potassium two pore domain channel subfamily K member 2 Gene

中文名称:钾二孔域通道亚科 K 成员 2

种属: Homo sapiens

同用名: TREK; TPKC1; TREK1; K2p2.1; TREK-1; hTREK-1c; hTREK-1e

基因 ID: 3776 | 基因类型: protein coding

关于 KCNK2

Cytogenetic location: 1q41 Genomic coordinates (GRCh38): 1:215,005,542-215,237,090 (from NCBI)

This gene has 9 transcripts (splice variants), 282 orthologues and 14 paralogues. Biased expression in adrenal (RPKM 18.5), thyroid (RPKM 2.6) and 1 other tissue.

功能概要

该基因编码双孔结构域背景钾通道蛋白家族的成员之一。这种类型的钾通道由两个同型二聚体形成,这两个同型二聚体形成一个通道,将钾从细胞中泄漏出来,以控制静息膜电位。然而,该通道可以通过某些麻醉剂、膜拉伸、细胞内酸中毒和加热来打开。已发现该基因的三个转录变体编码不同的亚型。[RefSeq 提供,2008 年 7 月]

This gene encodes one of the members of the two-pore-domain background Potassium Channel protein family. This type of Potassium Channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

KCNK2 基因产物(3)

mRNA Protein Name
NM_001017424.3 NP_001017424.1 potassium channel subfamily K member 2 isoform a
NM_001017425.3 NP_001017425.2 potassium channel subfamily K member 2 isoform c
NM_014217.4 NP_055032.1 potassium channel subfamily K member 2 isoform b
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables mechanosensitive potassium channel activity IDA
IDA: 通过直接分析推断
38605031 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

KCNK2 蛋白结构

Ion_trans_2

Ion_trans_2: Ion channel (128 - 196)

Ion_trans_2

Ion_trans_2: Ion channel (234 - 312)

  • 0
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  • 426 a.a.
蛋白主名 其他名称

potassium channel subfamily K member 2

K2P2.1 potassium channel

关联疾病

疾病名称 别名
Dentin Sensitivity

Sensitive Dentin

Birk-Barel Syndrome

Birk-Barel Mental Retardation Dysmorphism Syndrome

BIBARS

Mental Retardation With Hypotonia And Facial Dysmorphism

Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome

Kcnk9 Imprinting Syndrome

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Lgmd2x

Muscular Dystrophy, Limb-Girdle, Type 2x

Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema

Dehydrated Hereditary Stomatocytosis

Hereditary Xerocytosis

Xerocytosis, Hereditary

Pshk1

Pseudohyperkalemia Edinburgh

Dehydrated Hereditary Stomatocytosis With Or Without Pseudohyperkalemia And/Or Perinatal Edema

DHS1

Dhs

Hereditary Desiccytosis

Dehydrated Hereditary Stomatocytosis 1

Desiccytosis, Hereditary

Pseudohyperkalemia, Familial, 1, Due To Red Cell Leak

Pseudohyperkalemia Familial 1, Due To Red Cell Leak

Desiccytosis Hereditary

Xerocytosis Hereditary

Familial Pseudohyperkalemia 1 Due To Red Cell Leak

Stomatocytosis, Dehydrated, Hereditary, With/Without Pseudohyperkalemia And/Or Perinatal Edema

Xerocytosis

Migraine With Or Without Aura 1

Migraine

Migraine With Or Without Aura, Susceptibility To, 1

Migraine Disorder

Migraine Variant

Migraines

Migraine Disorders

Mgr1

Mgau

Ma

Migraine With Or Without Aura

Classic Migraine

Common Migraine

Disorder, Migraine

Headache Migraine

Headache Migrainous

Migraine Headache

Migraine Syndrome

Headache Including Migraine

Migraine, Susceptibility To

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
Rattus norvegicus KCNK2 RGD RGD:621448
Bos taurus KCNK2 VGNC VGNC:30472
Macaca mulatta KCNK2 VGNC VGNC:99988
Felis catus KCNK2 VGNC VGNC:67920
Mus musculus KCNK2 MGD MGI:109366
Canis familiaris KCNK2 VGNC VGNC:42274