KCNK4 - potassium two pore domain channel subfamily K member 4 Gene

中文名称：钾二孔域通道亚科 K 成员 4

种属: Homo sapiens

同用名: FHEIG; TRAAK; K2p4.1; TRAAK1

基因 ID: 50801 | 基因类型: protein coding

关于 KCNK4

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,291,302-64,300,031 (from NCBI)

This gene has 11 transcripts (splice variants), 263 orthologues, 14 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 1.0), placenta (RPKM 0.2) and 2 other tissues.

功能概要

该基因编码 TWIK 相关花生四烯酸刺激双孔钾通道亚家族的成员。编码的蛋白质同源二聚化并充当向外整流通道。该通道受多不饱和脂肪酸、温度和脂质膜机械变形的调节。这种蛋白质主要在神经组织中表达，可能参与调节背根神经节神经元的有害输入阈值。交替剪接导致多个转录本变体。该基因与下游睾丸表达 40 (TEX40) 基因之间也存在自然发生的通读转录本，如 GeneID：106780802 所示。[RefSeq 提供，2015 年 11 月]

This gene encodes a member of the TWIK-related arachidonic acid-stimulated two pore Potassium Channel subfamily. The encoded protein homodimerizes and functions as an outwardly rectifying channel. This channel is regulated by polyunsaturated fatty acids, temperature and mechanical deformation of the lipid membrane. This protein is expressed primarily in neural tissues and may be involved in regulating the noxious input threshold in dorsal root ganglia neurons. Alternate splicing results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream testis expressed 40 (TEX40) gene, as represented in GeneID: 106780802. [provided by RefSeq, Nov 2015]

KCNK4 基因产物(2)

mRNA	Protein	Name
NM_001317090.2	NP_001304019.1	potassium channel subfamily K member 4 precursor
NM_033310.3	NP_201567.1	potassium channel subfamily K member 4 precursor

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables identical protein binding	IPI IPI: 通过物理相互作用推断	22282805	GOA
enables mechanosensitive potassium channel activity	IDA IDA: 通过直接分析推断	22282805	GOA
enables outward rectifier potassium channel activity	IDA IDA: 通过直接分析推断	26919430	GOA
enables potassium channel activity	IDA IDA: 通过直接分析推断	22282805	GOA
enables potassium ion leak channel activity	IDA IDA: 通过直接分析推断	26919430	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to acidic pH	IDA IDA: 通过直接分析推断	26919430	GOA
involved in cellular response to arachidonate	IDA IDA: 通过直接分析推断	26919430	GOA
involved in cellular response to fatty acid	IDA IDA: 通过直接分析推断	22282805	GOA
involved in cellular response to mechanical stimulus	IDA IDA: 通过直接分析推断	22282805	GOA
involved in potassium ion transmembrane transport	IDA IDA: 通过直接分析推断	22282805	GOA
involved in response to ultrasound	IDA IDA: 通过直接分析推断	38605031	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in plasma membrane	IMP IMP: 通过突变表型推断	22282805	GOA
part of potassium channel complex	IDA IDA: 通过直接分析推断	22282805	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

KCNK4 蛋白结构

Ion_trans_2

0
100
200
300
393 a.a.

蛋白主名

其他名称

potassium channel subfamily K member 4

K2P4.1 potassium channel

关联疾病

疾病名称

别名

Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome

FHEIG	Facial Dysmorphism-Hypertrichosis-Epilepsy-Intellectual Disability/Developmental Delay-Gingival Overgrowth Syndrome
Fheig Syndrome	Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual And Developmental Delay, And Gingival Overgrowth Syndrome

Gingival Overgrowth

Gingival Enlargement	Gingival Hyperplasia
Gingival Bulge	Gingival Enlargement Nos
Gingival Hypertrophy	Gum Hypertrophy
Hyperplasia Gum	Gingival Thickening
Hyperplasia Of Gingiva	Hypertrophy Of Gingiva
Hypertrophy Of Mucous Membrane Of Gums

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

Hypertrichosis

Overgrowth Syndrome

Overgrowth

Congenital Malformation Syndromes Involving Early Overgrowth

Cantu Syndrome

Hypertrichotic Osteochondrodysplasia	Hypertrichotic Osteochondrodysplasia Cantu Type
Cantú Syndrome	Craniofaciocardioskeletal Syndrome
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome	Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum
Congenital Hypertrichosis-Coarse Facial Features Spectrum	HTOCD
Osteochondrodysplasia, Hypertrichotic

Episodic Pain Syndrome, Familial, 1

FEPS1	Familial Episodic Pain Syndrome With Predominantly Upper Body Involvement
Familial Episodic Pain Syndrome 1

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

Paroxysmal Extreme Pain Disorder

PEPD	Familial Rectal Pain
Pexpd	Submandibular, Ocular, And Rectal Pain With Flushing
Pain, Submandibular, Ocular, And Rectal, With Flushing	Rectal Pain, Familial
Submandibular, Ocular And Rectal Pain With Flushing	Familial Rectal Syndrome
Frp	Pain Disorder, Paroxysmal, Extreme

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-B1500	2,2,2-Trichloroethanol	Agonist	99.53%	否
HY-RS07160	KCNK4 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS21613	Kcnk4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	KCNK4	MGD	MGI:1298234
Rattus norvegicus	KCNK4	RGD	RGD:621449
Bos taurus	KCNK4	VGNC	VGNC:30474
Felis catus	KCNK4	VGNC	VGNC:67921
Canis familiaris	KCNK4	VGNC	VGNC:42276

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

KCNK4 - potassium two pore domain channel subfamily K member 4 Gene

关于 KCNK4

功能概要

KCNK4 基因产物(2)

KCNK4 蛋白结构

关联疾病

直系同源

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KCNK4 - potassium two pore domain channel subfamily K member 4 Gene

关于 KCNK4

功能概要

KCNK4 基因产物(2)

KCNK4 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z