SLC12A5 solute carrier family 12 member 5

Gene ID: 57468, updated on 19-Jun-2024
Gene type: protein coding
Also known as: KCC2; DEE34; EIG14; hKCC2; EIEE34

Summary

K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Developmental and epileptic encephalopathy, 34 MedGen: C4225257OMIM: 616645GeneReviews: SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures	See labs
Epilepsy, idiopathic generalized, susceptibility to, 14 MedGen: C4225245OMIM: 616685GeneReviews: Not available	See labs

Genomic context

Location:: 20q13.12

Sequence:: Chromosome: 20; NC_000020.11 (46021686..46060150)

Total number of exons:: 27

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SLC12A5 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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