Entity Details

Primary name S12A6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UHW9
EntryNameS12A6_HUMAN
FullNameSolute carrier family 12 member 6
TaxID9606
Evidenceevidence at protein level
Length1150
SequenceStatuscomplete
DateCreated2002-12-13
DateModified2021-06-02

Ontological Relatives

GenesSLC12A6

GO terms

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GOName
GO:0001525 angiogenesis
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006811 ion transport
GO:0006884 cell volume homeostasis
GO:0007268 chemical synaptic transmission
GO:0008519 ammonium transmembrane transporter activity
GO:0015079 potassium ion transmembrane transporter activity
GO:0015379 potassium:chloride symporter activity
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0019901 protein kinase binding
GO:0045202 synapse
GO:0055064 chloride ion homeostasis
GO:0055075 potassium ion homeostasis
GO:0071476 cellular hypotonic response
GO:0071477 cellular hypotonic salinity response
GO:0140157 ammonium import across plasma membrane
GO:1902476 chloride transmembrane transport
GO:1990573 potassium ion import across plasma membrane

Subcellular Location

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Subcellular Location
Basolateral cell membrane

Domains

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DomainNameCategoryType
IPR000076 K/Cl co-transporterFamilyFamily
IPR004841 Amino acid permease/ SLC12A domainDomainDomain
IPR004842 SLC12A transporter familyFamilyFamily
IPR018491 SLC12A transporter, C-terminalDomainDomain
IPR030364 K/Cl co-transporter 3FamilyFamily

Diseases

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Disease IDSourceNameDescription
218000 OMIMAgenesis of the corpus callosum, with peripheral neuropathy (ACCPN)A disease that is characterized by severe progressive sensorimotor neuropathy, mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00761 Potassium chlorideDrugbanksmall molecule

Interactions

4 interactions