KCNJ12
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ATP-sensitive inward rectifier potassium channel 12 is a
lipid-gated ion channel Lipid-gated ion channels are a class of ion channels whose conductance of ions through the membrane depends directly on lipids. Classically the lipids are membrane resident anionic signaling lipids that bind to the transmembrane domain on the inn ...
that in humans is encoded by the ''KCNJ12''
gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.


Function

This gene encodes an inwardly rectifying K+ channel that may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels that contribute to the cardiac inward rectifier current (IK1). The gene is located within the
Smith–Magenis syndrome Smith–Magenis syndrome (SMS), also known as 17p-microdeletion syndrome, is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17. It has features including intellectual disability, facial abnormalities, ...
region on chromosome 17.


Interactions

KCNJ12 has been shown to
interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization advocating for the legal and human rights of children with intersex traits. The organization was founded in 2006 and fo ...
with: * APBA1, *
CASK A barrel or cask is a hollow cylindrical container with a bulging center, longer than it is wide. They are traditionally made of wooden staves and bound by wooden or metal hoops. The word vat is often used for large containers for liquids ...
, *
DLG1 Discs large homolog 1 (DLG1), also known as synapse-associated protein 97 or SAP97, is a scaffold protein that in humans is encoded by the ''SAP97'' gene. SAP97 is a mammalian MAGUK-family member protein that is similar to the Drosophila protein ...
, *
DLG2 Disks large homolog 2 (DLG2) also known as channel-associated protein of synapse-110 (chapsyn-110) or postsynaptic density protein 93 (PSD-93) is a protein that in humans is encoded by the ''DLG2'' gene. Function Chapsyn-110/PSD-93 a member of ...
, *
DLG3 Disks large homolog 3 (DLG3) also known as neuroendocrine-DLG or synapse-associated protein 102 (SAP-102) is a protein that in humans is encoded by the ''DLG3'' gene. DLG3 is a member of the membrane-associated guanylate kinase (MAGUK) superfami ...
, *
DLG4 PSD-95 (postsynaptic density protein 95) also known as SAP-90 (synapse-associated protein 90) is a protein that in humans is encoded by the ''DLG4'' (discs large homolog 4) gene. PSD-95 is a member of the membrane-associated guanylate kinase (MA ...
, *
LIN7A Lin-7 homolog A is a protein that in humans is encoded by the ''LIN7A'' gene. Interactions LIN7A has been shown to interact with: * CASK, * DLG1 Discs large homolog 1 (DLG1), also known as synapse-associated protein 97 or SAP97, is a scaffo ...
*
LIN7B Lin-7 homolog B is a protein that in humans is encoded by the ''LIN7B'' gene. Interactions LIN7B has been shown to interact with: * ACCN3, * GRIN2B Glutamate MDAreceptor subunit epsilon-2, also known as ''N''-methyl D-aspartate receptor su ...
, and * LIN7C.


See also

*
Inward-rectifier potassium channel Inward-rectifier potassium channels (Kir, IRK) are a specific Lipid-gated_ion_channels, lipid-gated subset of potassium channels. To date, seven subfamilies have been identified in various mammalian cell types, plants, and bacteria. They are acti ...


References


Further reading

* * * * * * * * * * * * *


External links

* Ion channels {{Genetics-stub