KCNJ11

GENERAL INFORMATION

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Gene name

KCNJ11

Gene description

Potassium inwardly-rectifying channel, subfamily J, member 11

Protein class

Disease related genes
FDA approved drug targets
Predicted membrane proteins
Voltage-gated ion channels

Predicted localization

Membrane

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (skeletal muscle)
GTEx:Tissue enhanced (skeletal muscle)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic expression in several tissues.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly not consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA048891
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (skeletal muscle)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (skeletal muscle)

Organ

Expression



GENE INFORMATION

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Gene name

KCNJ11 (HGNC Symbol)

Synonyms

BIR, Kir6.2

Description

Potassium inwardly-rectifying channel, subfamily J, member 11 (HGNC Symbol)

Entrez gene summary

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 has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]

Chromosome

11

Cytoband

p15.1

Chromosome location (bp)

17385859 - 17389331

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000187486 (version 78.38)

Entrez gene

3767

UniProt

Q14654 (UniProt - Evidence at protein level)

neXtProt

NX_Q14654

Antibodypedia

KCNJ11 antibodies


PROTEIN BROWSER

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ENST00000339994
 
ENST00000526912
 
ENST00000528731
 
ENST00000528992
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

KCNJ11-001 ENSP00000345708
ENST00000339994
Q14654
Show all »
Show » Show » 390 43.5 No 2
KCNJ11-002 ENSP00000434755
ENST00000528731
Q14654
Show all »
Show » Show » 303 33.2 No 1
KCNJ11-003 ENSP00000432729
ENST00000526912
E9PPF1
Show all »
Show » Show » 153 16.9 No 1
KCNJ11-004 ENSP00000436479
ENST00000528992
Show » Show » 155 17.4 No 1