KCNJ11

GENE INFORMATION

? »

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 (Chromosome progress)

Cytoband

p15.1

Chromosome location (bp)

17407406 - 17410878

Ensembl

ENSG00000187486 (version 73.37)

Entrez gene

3767

UniProt

Q14654 (UniProt - Evidence at protein level)

neXtProt

NX_Q14654

Antibodypedia

KCNJ11 antibodies
 

PROTEIN VIEW

? »
 
 
 
KCNJ11-001
 
KCNJ11-002
 
KCNJ11-003
 
KCNJ11-004
 
 
 
 
 

PROTEIN INFORMATION

? »

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