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GENE AND PROTEIN SUMMARY

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Gene name

KCNJ11

Description

potassium inwardly-rectifying channel, subfamily J, member 11

Protein class

Mapped to UniProt SWISS-PROT, Plasma proteins, Potential transmembrane proteins, Voltage-gated ion channels

Protein evidence

Medium

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

4 in total
4 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

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Pending normal tissue analysis

CANCER TISSUE SUMMARY

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Pending cancer tissue analysis

CELL LINE SUMMARY

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RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Low

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A-549 Lung Low

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CACO-2 Colon Low

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HEK 293 Embryonal kidney Medium

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-

HeLa Cervix Low

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Hep-G2 Liver Low

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MCF-7 Pleural effusion Medium

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-

PC-3 Bone marrow Low

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RT-4 Urinary bladder Low

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U-2 OS Bone Low

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U-251 MG Brain Not detected

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ANTIBODY SUMMARY

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Pending antibodies