KCNK9 - potassium two pore domain channel subfamily K member 9 Gene

中文名称：钾二孔域通道亚科 K 成员 9

种属: Homo sapiens

同用名: KT3.2; TASK3; BIBARS; K2p9.1; TASK-3; TASK32

基因 ID: 51305 | 基因类型: protein coding

关于 KCNK9

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:139,600,838-139,703,123 (from NCBI)

This gene has 12 transcripts (splice variants), 221 orthologues, 14 paralogues and is associated with 3 phenotypes. Biased expression in adrenal (RPKM 2.3) and brain (RPKM 2.1).

功能概要

该基因编码的蛋白质包含多个跨膜区域和两个成孔 P 结构域，并作为 pH 依赖性钾通道发挥作用。已在几种类型的人类癌症中观察到该基因的扩增和过表达。该基因印在大脑中，优先从母体等位基因表达。该基因的突变与 Birk-Barel 畸形综合征有关。可变剪接导致多个转录本变体。[RefSeq 提供，2017 年 7 月]

This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent Potassium Channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]

KCNK9 基因产物(1)

mRNA	Protein	Name
NM_001282534.2	NP_001269463.1	potassium channel subfamily K member 9

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 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	11042359	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within potassium ion import across plasma membrane	IDA IDA: 通过直接分析推断	11042359	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in plasma membrane	IDA IDA: 通过直接分析推断	11042359	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

KCNK9 蛋白结构

Ion_trans_2

0
100
200
300
374 a.a.

蛋白主名

其他名称

potassium channel subfamily K member 9

TWIK-related acid-sensitive K(+) channel 3

关联疾病

疾病名称

别名

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

Kcnk9 Imprinting Syndrome

Birk-Barel Syndrome	Birk-Barel Mental Retardation Dysmorphism Syndrome
Intellectual Disability, Birk-Barel Type	Intellectual Disability-Hypotonia-Facial Dysmorphism Syndrome
Mental Retardation With Hypotonia And Facial Dysmorphism

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Central Sleep Apnea

Central Sleep Apnea Syndrome	Sleep Apnea, Central
Primary Central Sleep Apnea	Central Sleep Apnea, Primary
Central Sleep Apnoea Syndrome	Csa - [Central Sleep Apnoea]
Csas - [Central Sleep Apnoea Syndrome]	Central Sleep Apnoea Due To Substances Including Medications

Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay

CLIFAHDD	Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Clifahdd Syndrome	Doid:0081048
Contractures, Limbs And Face, Congenital, Hypotonia, And Developmental Delay

Conn'S Syndrome

Cushing Syndrome	Hyperaldosteronism
Primary Hyperaldosteronism	Hypercortisolism
Primary Aldosteronism	Cushing'S Syndrome
Adrenal Gland Hyperfunction	Conn Syndrome
Hyperadrenalism	Ectopic Acth Syndrome
Hyperadrenocorticism	Cushing Disease
Cushing'S Disease	Adrenal Cortex Adenoma
Corticotroph Pituitary Adenoma	Pituitary Corticotroph Micro-Adenoma
Pituitary-Dependent Cushing Syndrome	Pituitary Acth Hypersecretion
Acth Syndrome, Ectopic	Acth-Secreting Pituitary Adenoma
Adrenal Hyperfunction Resulting From Pituitary Acth Excess	Ectopic Adrenocorticotropic Hormone Syndrome
Nodular Primary Adrenocortical Dysplasia	Pituitary Dependent Cushing Syndrome
Pituitary Cushing Syndrome	Pituitary-Dependant Cushing Syndrome
Pituitary-Dependant Hypercortisolism	Pituitary-Dependant Hypercortisolism Disorder
Aldosteronism Primary	Acth Syndrome Ectopic
Adrenal Cushing'S Syndrome	Adrenal Cortical Adenoma
Cushing Syndrome Nos	Cortisol Hypersecretion
Corticoadrenal Hypersecretion	Cushing Syndrome Secondary To Ectopic Acth-Secretion
Ectopic Cushing Syndrome	Hypercortisolism Due To Nonpituitary Tumour
Ectopic Acth - [Adrenocorticotropic Hormone] Secretion	Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome
Idiopathic Aldosteronism	Aldosteronism
Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia	Primary Aldosteronism Due To Adrenal Hyperplasia

Adrenal Cortical Adenocarcinoma

Adrenal Cortex Adenocarcinoma

Adrenocortical Carcinoma

Congenital Central Hypoventilation Syndrome

Cchs	Haddad Syndrome
Ondine Curse	Ondine Syndrome
Congenital Central Hypoventilation	Congenital Central Alveolar Hypoventilation Syndrome
Congenital Failure Of Autonomic Control	Ondine'S Curse
Primary Alveolar Hypoventilation	Ondine-Hirschsprung Disease
Central Congenital Hypoventilation Syndrome	Congenital Ondine Curse
Idiopathic Congenital Central Alveolar Hypoventilation	Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
Ondine-Hirschsprung Syndrome

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

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-139064	NPBA	Modulator	99.98%	否
HY-RS07163	KCNK9 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	KCNK9	VGNC	VGNC:42280
Bos taurus	KCNK9	VGNC	VGNC:30478
Macaca mulatta	KCNK9	VGNC	VGNC:73997
Rattus norvegicus	KCNK9	RGD	RGD:621451
Mus musculus	KCNK9	MGD	MGI:3521816

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）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

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）

KCNK9 - potassium two pore domain channel subfamily K member 9 Gene

关于 KCNK9

功能概要

KCNK9 基因产物(1)

KCNK9 蛋白结构

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

KCNK9 - potassium two pore domain channel subfamily K member 9 Gene

关于 KCNK9

功能概要

KCNK9 基因产物(1)

KCNK9 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