1. Gene
  2. KCNK12 - potassium two pore domain channel subfamily K member 12 Gene

KCNK12 - potassium two pore domain channel subfamily K member 12 Gene

中文名称:钾二孔域通道亚科 K 成员 12

种属: Homo sapiens

同用名: THIK2; THIK-2; K2p12.1

基因 ID: 56660 | 基因类型: protein coding

关于 KCNK12

Cytogenetic location: 2p16.3 Genomic coordinates (GRCh38): 2:47,509,290-47,570,985 (from NCBI)

This gene has 2 transcripts (splice variants), 213 orthologues and 14 paralogues. Biased expression in brain (RPKM 1.7), placenta (RPKM 0.4) and 8 other tissues.

功能概要

该基因编码含有两个成孔 P 结构域的钾通道蛋白超家族成员之一。该基因的产物尚未显示为功能通道,但是,它可能需要其他非成孔蛋白才能发挥作用。[RefSeq 提供,2008 年 7 月]

This gene encodes one of the members of the superfamily of Potassium Channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, however, it may require Other non-pore-forming proteins for activity. [provided by RefSeq, Jul 2008]

KCNK12 基因产物(1)

mRNA Protein Name
NM_022055.2 NP_071338.1 potassium channel subfamily K member 12

KCNK12 蛋白结构

Ion_trans_2

Ion_trans_2: Ion channel (112 - 168)

Ion_trans_2

Ion_trans_2: Ion channel (224 - 302)

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  • 430 a.a.
蛋白主名 其他名称

potassium channel subfamily K member 12

potassium channel, subfamily K, member 12

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 52

DEE52

Epileptic Encephalopathy, Early Infantile, 52

Eiee52

Developmental And Epileptic Encephalopathy, 52

Early Infantile Epileptic Encephalopathy 52

Skin Angiosarcoma

Angiosarcoma Of Skin

Hemangiosarcoma Of The Skin

Haemangiosarcoma Of Skin

Lymphangiosarcoma Of Skin

Cutaneous Angiosarcoma

Malignant Haemangioendothelioma Of Skin

Brugada Syndrome 5

BRGDA5

Cardiac Conduction Defect, Nonspecific

Brugada Syndrome, Type 5

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
Canis familiaris KCNK12 VGNC VGNC:42271
Macaca mulatta KCNK12 VGNC VGNC:106176
Bos taurus KCNK12 VGNC VGNC:30467
Rattus norvegicus KCNK12 RGD RGD:68940
Mus musculus KCNK12 MGD MGI:2684043