1. Gene
  2. KCNJ6 - potassium inwardly rectifying channel subfamily J member 6 Gene

KCNJ6 - potassium inwardly rectifying channel subfamily J member 6 Gene

中文名称:钾内向整流通道亚家族 J 成员 6

种属: Homo sapiens

同用名: BIR1; GIRK2; KATP2; KCNJ7; KPLBS; GIRK-2; KATP-2; KIR3.2; hiGIRK2

基因 ID: 3763 | 基因类型: protein coding

关于 KCNJ6

Cytogenetic location: 21q22.13 Genomic coordinates (GRCh38): 21:37,607,373-37,916,457 (from NCBI)

This gene has 2 transcripts (splice variants), 207 orthologues, 15 paralogues and is associated with 3 phenotypes. Biased expression in brain (RPKM 1.1), stomach (RPKM 0.3) and 7 other tissues.

功能概要

该基因编码内向整流钾通道的 G 蛋白偶联内向整流钾通道家族的成员。这种类型的钾通道允许更多的钾流入细胞而不是流出细胞。这些蛋白质通过 G 蛋白偶联受体刺激调节许多生理过程,包括心脏细胞的心率和神经元细胞的回路活动。该基因的突变与 Keppen-Lubinsky 综合症有关,这是一种以严重发育迟缓、面部畸形和智力障碍为特征的罕见病症。[RefSeq 提供,2015 年 4 月]

This gene encodes a member of the G protein-coupled inwardly-rectifying Potassium Channel family of inward rectifier potassium channels. This type of Potassium Channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]

KCNJ6 基因产物(1)

mRNA Protein Name
NM_002240.5 NP_002231.1 G protein-activated inward rectifier potassium channel 2

KCNJ6 蛋白结构

IRK

IRK: Inward rectifier potassium channel (57 - 375)

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  • 423 a.a.
蛋白主名 其他名称

G protein-activated inward rectifier potassium channel 2

inward rectifier K(+) channel Kir3.2

KCNJ6 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra KCNJ6 P48051 TMEM120B Homo sapiens A0PK00
Y2H Prey Pooling
32296183
Intra KCNJ6 P48051 EDDM3B Homo sapiens P56851
Validated Y2H
32296183
Intra KCNJ6 P48051 RTP2 Homo sapiens Q5QGT7
Validated Y2H
32296183
Intra KCNJ6 P48051 ZDHHC24 Homo sapiens Q6UX98
Validated Y2H
32296183
Intra KCNJ6 P48051 NINJ2 Homo sapiens Q9NZG7
Validated Y2H
32296183
Intra KCNJ6 P48051 RPRM Homo sapiens Q9NS64
Validated Y2H
32296183
Intra KCNJ6 P48051 ORMDL2 Homo sapiens Q53FV1
Validated Y2H
32296183
Intra KCNJ6 P48051 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
32296183
Intra KCNJ6 P48051 TMPPE Homo sapiens Q6ZT21
Validated Y2H
32296183
Intra KCNJ6 P48051 AIG1 Homo sapiens Q9NVV5-2
Validated Y2H
32296183
Intra KCNJ6 P48051 LPAR3 Homo sapiens Q9UBY5
Validated Y2H
32296183
Intra KCNJ6 P48051 NRAC Homo sapiens Q8N912
Validated Y2H
32296183
Intra KCNJ6 P48051 SCARF1 Homo sapiens Q14162
Validated Y2H
32296183
Intra KCNJ6 P48051 VSTM1 Homo sapiens Q6UX27-3
Validated Y2H
32296183
Intra KCNJ6 P48051 TSPO2 Homo sapiens Q5TGU0
Validated Y2H
32296183
Intra KCNJ6 P48051 TMEM203 Homo sapiens Q969S6
Validated Y2H
32296183
Intra KCNJ6 P48051 TMEM107 Homo sapiens Q6UX40
Validated Y2H
32296183
Intra KCNJ6 P48051 TMEM208 Homo sapiens Q9BTX3
Validated Y2H
32296183
Intra KCNJ6 P48051 TM6SF2 Homo sapiens Q9BZW4
Validated Y2H
32296183
Intra KCNJ6 P48051 SYT3 Homo sapiens Q9BQG1
Validated Y2H
32296183
Intra KCNJ6 P48051 PEX11G Homo sapiens Q96HA9
Validated Y2H
32296183
Intra KCNJ6 P48051 UBIAD1 Homo sapiens Q9Y5Z9
Validated Y2H
32296183
Intra KCNJ6 P48051 CNPY3 Homo sapiens Q9BT09
Validated Y2H
32296183
Intra KCNJ6 P48051 PMP22 Homo sapiens Q01453
Validated Y2H
32296183
Intra KCNJ6 P48051 FIS1 Homo sapiens Q9Y3D6
Validated Y2H
32296183
Intra KCNJ6 P48051 PLLP Homo sapiens Q9Y342
Validated Y2H
32296183
Intra KCNJ6 P48051 LPCAT2 Homo sapiens Q7L5N7
Validated Y2H
32296183
Intra KCNJ6 P48051 SCAMP4 Homo sapiens Q969E2
Validated Y2H
32296183
Intra KCNJ6 P48051 BCL2L2 Homo sapiens Q92843
Validated Y2H
32296183
Intra KCNJ6 P48051 ERG28 Homo sapiens Q9UKR5
Validated Y2H
32296183
Intra KCNJ6 P48051 FXYD6 Homo sapiens Q9H0Q3
Validated Y2H
32296183
Intra KCNJ6 P48051 FUNDC2 Homo sapiens Q9BWH2
Validated Y2H
32296183
Intra KCNJ6 P48051 YIPF6 Homo sapiens Q96EC8
Validated Y2H
32296183
Intra KCNJ6 P48051 UNC50 Homo sapiens Q53HI1
Validated Y2H
32296183
Intra KCNJ6 P48051 YIPF1 Homo sapiens Q9Y548
Validated Y2H
32296183
Intra KCNJ6 P48051 PNLIPRP1 Homo sapiens P54315
Validated Y2H
32296183
Intra KCNJ6 P48051 PEX16 Homo sapiens Q9Y5Y5
Validated Y2H
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Keppen-Lubinsky Syndrome

KPLBS

Generalized Lipodystrophy-Progeroid Features-Severe Intellectual Disability Syndrome

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Intellectual Developmental Disorder, Autosomal Dominant 7

MRD7

Mental Retardation, Autosomal Dominant 7

Autosomal Dominant Non-Syndromic Intellectual Disability 7

Dyrk1a Syndrome

Autosomal Dominant Intellectual Developmental Disorder 7

Autosomal Dominant Mental Retardation 7

Mental Retardation, Autosomal Dominant, Type 7

Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

Night Blindness, Congenital Stationary, Type 1h

Congenital Stationary Night Blindness 1h

CSNB1H

Congenital Stationary Night Blindness Type 1h

Night Blindness, Congenital Stationary, 1h

Chromosomal Duplication Syndrome
Weaver Syndrome

Wss

Weaver-Smith Syndrome

WVS

Weaver-Like Syndrome

Weaver-Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies Syndrome

Camptodactyly - Overgrowth - Unusual Facies

Ezh2 Related Overgrowth

Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

Weaver Smith Syndrome

Weaver Like Syndrome

Weaver Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies

Weaver Syndrome 1

Weaver Syndrome 2

Wvs1

Wvs2

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Long Qt Syndrome 1

Romano-Ward Syndrome

LQT1

Ward-Romano Syndrome

Rws

Ventricular Fibrillation With Prolonged Qt Interval

Wrs

Long Qt Syndrome 1, Acquired, Susceptibility To

Long Qt Syndrome 1, Acquired

Romano-Ward Long Qt Syndrome

Long Qt Syndrome Type 1

Long Qt Syndrome-1

Acquired Susceptibility To Long Qt Syndrome 1

Qt Syndrome, Long, Type 1

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 KCNJ6 RGD RGD:2959
Felis catus KCNJ6 VGNC VGNC:67916
Canis familiaris KCNJ6 VGNC VGNC:42267
Bos taurus KCNJ6 VGNC VGNC:53585
Macaca mulatta KCNJ6 VGNC VGNC:73991
Mus musculus KCNJ6 MGD MGI:104781