Symbol
Name
ID
|
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Synonyms
|
gaxp, KCC3
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Genetic Map
|
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Sequence Map
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Mammalian
homology
|
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Sequences
|
All sequences(28)
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Alleles
and
phenotypes
|
All alleles(23) :
Targeted, other(2)
Gene trapped(20)
Spontaneous(1)
| Homozygotes for targeted null mutations exhibit locomotor deficits, reduced exploratory activity, progressive neurodegeneration, hypertension, slow progressive deafness and failure to breed. |
Associated Human Diseases (1)
Alleles Annotated to Human Diseases (2)
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Polymorphisms
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SNPs within 2kb(330 from dbSNP Build 128)
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Gene Ontology
(GO)
classifications
|
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Expression
|
Literature Summary: (3 records)
cDNA source data(6)
External Resources:
Allen Brain Atlas
GEO
|
Molecular
reagents
|
All nucleic(8)
Genomic(2)
cDNA(6)
Microarray probesets(4)
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Other database
links
|
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Protein
domains
|
| InterPro ID |
Description |
| IPR000076 |
K-Cl co-transporter |
| IPR004841 |
Amino acid permease domain |
| IPR004842 |
Na/K/Cl co-transporter superfamily |
| IPR018491 |
K/Cl co-transporter, type 1/type 3 |
Graphical View
of Protein Domain Structure
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References
|
(Earliest)
J:69625
Hubner CA et al.,
"Disruption of KCC2 Reveals an Essential Role of K-Cl Cotransport Already in Early Synaptic Inhibition."
Neuron 2001 May;30(2):515-24
(Latest)
J:138272
Salin-Cantegrel A et al.,
"HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl- co-transporter 3."
Hum Mol Genet 2008 Sep 1;17(17):2703-11
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All references(16)
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Other
accession IDs
|
MGI:2447470
|
