GENETIC ENCYCLOPEDIA
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gene: KCNJ4

id3761
symbolKCNJ4
organismHomo sapiens
full namepotassium voltage-gated channel subfamily J member 4
summarySeveral different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
variant-disease

NM_152868.2(KCNJ4):c.586C>T (p.Arg196Cys) AND Malignant tumor of prostate

GRCh37/hg19 22q13.1(chr22:38322968-38965458) AND See cases

GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1 AND See cases

GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1 AND See cases

GRCh37/hg19 22q12.3-13.1(chr22:37090025-39601950)x3 AND See cases

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