KCNJ16 - potassium inwardly rectifying channel subfamily J member 16 Gene

中文名称：钾内向整流通道亚家族 J 成员 16

种属: Homo sapiens

同用名: BIR9; HKTD; KIR5.1

基因 ID: 3773 | 基因类型: protein coding

关于 KCNJ16

Cytogenetic location: 17q24.3 Genomic coordinates (GRCh38): 17:70,075,225-70,135,608 (from NCBI)

This gene has 10 transcripts (splice variants), 255 orthologues, 15 paralogues and is associated with 1 phenotype. Biased expression in kidney (RPKM 78.7), thyroid (RPKM 73.9) and 4 other tissues.

功能概要

钾通道存在于大多数哺乳动物细胞中，它们参与广泛的生理反应。该基因编码的蛋白是一种完整的膜蛋白和内向整流型钾通道。编码的蛋白质倾向于让钾流入而不是流出细胞，可以与另外两个内向整流型钾通道形成异二聚体。它可能在体液和 pH 平衡调节中发挥作用。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2014 年 4 月]

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type Potassium Channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two Other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

KCNJ16 基因产物(8)

mRNA	Protein	Name
NM_001270422.2	NP_001257351.1	inward rectifier potassium channel 16 isoform b
NM_001291622.3	NP_001278551.2	inward rectifier potassium channel 16 isoform b
NM_001291623.2	NP_001278552.2	inward rectifier potassium channel 16 isoform b
NM_001291624.1	NP_001278553.1	inward rectifier potassium channel 16 isoform b
NM_001291625.1	NP_001278554.1	inward rectifier potassium channel 16 isoform b
NM_018658.4	NP_061128.3	inward rectifier potassium channel 16 isoform b
NM_170741.4	NP_733937.3	inward rectifier potassium channel 16 isoform b
NM_170742.3	NP_733938.3	inward rectifier potassium channel 16 isoform b

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 inward rectifier potassium channel activity	IGI IGI: 通过遗传相互作用推断	20651251	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 transmembrane transport	IGI IGI: 通过遗传相互作用推断	20651251	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in basolateral plasma membrane	IDA IDA: 通过直接分析推断	20651251	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

KCNJ16 蛋白结构

IRK

0
100
200
300
418 a.a.

蛋白主名

其他名称

inward rectifier potassium channel 16

inward rectifier K(+) channel Kir5.1

关联疾病

疾病名称

别名

Hypokalemic Tubulopathy And Deafness

HKTD

Hypokalemia

Potassium Deficiency	Potassium Deficiency Disorder
Hypopotassemia	Potassium
Potassium [K] Deficiency	Hypokalaemic Syndrome
Hypopotassaemia	Hypopotassaemia Syndrome
Hypokalaemic	Potassium Depletion

Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance

Sesame Syndrome	East Syndrome
SESAMES	Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance	Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome
Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome	Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance	Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome
Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome	Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance
Epilepsy Ataxia Sensorineural Deafness And Tubulopathy	Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome

Campomelic Dysplasia

Acampomelic Campomelic Dysplasia	Camptomelic Dysplasia
Campomelic Dysplasia With Autosomal Sex Reversal	Cmpd
CMD1	Cmpd1
Cmpd1/Sra1	Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal
Campomelic Dwarfism	Campomelic Syndrome
Dysplasia, Campomelic	Chronic Myeloproliferative Disorder
Familial Dilated Cardiomyopathy

Vitreoretinal Degeneration, Snowflake Type

Snowflake Vitreoretinal Degeneration	SVD
Snowflake Degeneration In Hereditary Vitreoretinal Degeneration

Hypomagnesemia 3, Renal

HOMG3	Renal Hypomagnesemia 3
Fhhnc Without Severe Ocular Involvement	Renal Hypomagnesemia Type 3
Hypomagnesemia, Primary, Due To Defect In Renal Tubular Transport Of Magnesium	Hypomagnesemia, Isolated Renal
Hypomagnesemia, Familial, With Hypercalciuria And Nephrocalcinosis	Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement
Isolated Renal Hypomagnesemia	Primary Hypomagnesemia Due To Defect In Renal Tubular Transport Of Magnesium
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement	Hypomagnesemia 3
Familial Hypomagnesemia With Hypercalciuria And Nephrocalcinosis	Fhhnc
Hhn	Renal Hypomagnesemia Hypercalciuria Nephrocalcinosis
Hypomagnesemia, Type 3, Renal	Primary Hypomagnesemia

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Gitelman Syndrome

Familial Hypokalemia-Hypomagnesemia	Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria
Potassium And Magnesium Depletion	GTLMNS
Gitelman'S Syndrome	Gs
Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria	Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria
Bartter Syndrome Gitelman Variant	Bartter Syndrome Hypocalciuric Variant
Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria

Bartter Disease

Bartter Syndrome	Bartter'S Syndrome
Aldosteronism With Hyperplasia Of The Adrenal Cortex	Hypokalemic Alkalosis With Hypercalciuria
Potassium Wasting	Juxtaglomerular Hyperplasia With Secondary Aldosteronism
Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria	Salt-Losing Tubular Disorder, Henle'S Loop Type
Salt-Wasting Tubulopathy, Henle'S Loop Type	Bartters Syndrome

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

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-RS07143	KCNJ16 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	KCNJ16	RGD	RGD:61824
Mus musculus	KCNJ16	MGD	MGI:1314842
Felis catus	KCNJ16	VGNC	VGNC:67914
Macaca mulatta	KCNJ16	VGNC	VGNC:73987
Canis familiaris	KCNJ16	VGNC	VGNC:42262
Bos taurus	KCNJ16	VGNC	VGNC:30459

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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）

KCNJ16 - potassium inwardly rectifying channel subfamily J member 16 Gene

关于 KCNJ16

功能概要

KCNJ16 基因产物(8)

KCNJ16 蛋白结构

关联疾病

直系同源

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KCNJ16 - potassium inwardly rectifying channel subfamily J member 16 Gene

关于 KCNJ16

功能概要

KCNJ16 基因产物(8)

KCNJ16 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

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Q

S

T

X

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