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Aliases for SLC12A6 Gene

Aliases for SLC12A6 Gene

  • Solute Carrier Family 12 (Potassium/Chloride Transporter), Member 6 2 3
  • KCC3 3 4 6
  • Electroneutral Potassium-Chloride Cotransporter 3 3 4
  • K-Cl Cotransporter 3 3 4
  • KCC3A 3 6
  • KCC3B 3 6
  • ACCPN 3 6
  • Agenesis Of Corpus Callosum And Peripheral Neuropathy (Andermann Syndrome) 2
  • Solute Carrier Family 12 (Potassium/Chloride Transporters), Member 6 3
  • Potassium Chloride Cotransporter KCC3a-S3 3
  • Potassium Chloride Cotransporter 3 3
  • Potassium-Chloride Transporter-3a 3
  • Potassium-Chloride Transporter-3b 3
  • Solute Carrier Family 12 Member 6 3
  • EC 1.2.4.1 63
  • EC 6.1.1.3 63

External Ids for SLC12A6 Gene

Previous Symbols for SLC12A6 Gene

  • KCC3
  • ACCPN

Summaries for SLC12A6 Gene

Entrez Gene Summary for SLC12A6 Gene

  • This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC12A6 Gene

SLC12A6 (Solute Carrier Family 12 (Potassium/Chloride Transporter), Member 6) is a Protein Coding gene. Diseases associated with SLC12A6 include agenesis of the corpus callosum with peripheral neuropathy and hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include potassium:chloride symporter activity. An important paralog of this gene is SLC12A2.

UniProtKB/Swiss-Prot for SLC12A6 Gene

  • Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells

Gene Wiki entry for SLC12A6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC12A6 Gene

Genomics for SLC12A6 Gene

Genomic Location for SLC12A6 Gene

Start:
34,229,996 bp from pter
End:
34,338,064 bp from pter
Size:
108,069 bases
Orientation:
Minus strand

Genomic View for SLC12A6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC12A6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC12A6 Gene

Regulatory Elements for SLC12A6 Gene

Proteins for SLC12A6 Gene

  • Protein details for SLC12A6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHW9-S12A6_HUMAN
    Recommended name:
    Solute carrier family 12 member 6
    Protein Accession:
    Q9UHW9
    Secondary Accessions:
    • A0AV76
    • Q2VI00
    • Q7Z2E7
    • Q7Z4G5
    • Q8TDD4
    • Q9UFR2
    • Q9Y642
    • Q9Y665

    Protein attributes for SLC12A6 Gene

    Size:
    1150 amino acids
    Molecular mass:
    127617 Da
    Quaternary structure:
    • Homomultimer and heteromultimer with other K-Cl cotransporters.

    Alternative splice isoforms for SLC12A6 Gene

neXtProt entry for SLC12A6 Gene

Proteomics data for SLC12A6 Gene at MOPED

Selected DME Specific Peptides for SLC12A6 Gene

Post-translational modifications for SLC12A6 Gene

Domains for SLC12A6 Gene

Gene Families for SLC12A6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UHW9

UniProtKB/Swiss-Prot:

S12A6_HUMAN
Family:
  • Belongs to the SLC12A transporter family.:
    • Q9UHW9
genes like me logo Genes that share domains with SLC12A6: view

Function for SLC12A6 Gene

Molecular function for SLC12A6 Gene

GENATLAS Biochemistry: solute carrier family 12 (sodium/potassium/chloride cotransporter),highly expressed in brain,heart,skeletal muscle and kidney,upregulated in vascular endothelial cells by VEGF and decreased by TNF
UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=10.7 mM for extracellular Rb(+) (isoform 1) {ECO:0000269 PubMed:16048901}; KM=7.3 mM for extracellular Cl(-) (isoform 1) {ECO:0000269 PubMed:16048901}; KM=17.2 mM for extracellular Rb(+) (isoform 2) {ECO:0000269 PubMed:16048901}; KM=8.2 mM for extracellular Cl(-) (isoform 2) {ECO:0000269 PubMed:16048901};
UniProtKB/Swiss-Prot EnzymeRegulation: Activated by N-ethylmaleimide (NEM). Inhibited by DIOA, bumetanide and furosemide. Inhibited by WNK3.
UniProtKB/Swiss-Prot Function: Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells
UniProtKB/Swiss-Prot Induction: Up-regulated by VEGF. Down-regulated by TNF

Enzyme Numbers (IUBMB) for SLC12A6 Gene

Gene Ontology (GO) - Molecular Function for SLC12A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity --
GO:0015079 potassium ion transmembrane transporter activity IDA 24393035
GO:0015377 cation:chloride symporter activity --
GO:0015379 potassium:chloride symporter activity IDA 10187864
GO:0019901 protein kinase binding IPI 24393035
genes like me logo Genes that share ontologies with SLC12A6: view
genes like me logo Genes that share phenotypes with SLC12A6: view

Animal Models for SLC12A6 Gene

MGI Knock Outs for SLC12A6:

miRNA for SLC12A6 Gene

miRTarBase miRNAs that target SLC12A6

No data available for Transcription Factor Targeting and HOMER Transcription for SLC12A6 Gene

Localization for SLC12A6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC12A6 Gene

Basolateral cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC12A6 Gene COMPARTMENTS Subcellular localization image for SLC12A6 gene
Compartment Confidence
plasma membrane 5
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC12A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane NAS 10187864
GO:0016323 basolateral plasma membrane ISS --
genes like me logo Genes that share ontologies with SLC12A6: view

Pathways for SLC12A6 Gene

genes like me logo Genes that share pathways with SLC12A6: view

Gene Ontology (GO) - Biological Process for SLC12A6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis NAS 10187864
GO:0006810 transport --
GO:0006811 ion transport TAS --
GO:0006813 potassium ion transport IEA --
GO:0006821 chloride transport --
genes like me logo Genes that share ontologies with SLC12A6: view

Compounds for SLC12A6 Gene

(1) HMDB Compounds for SLC12A6 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6

(2) Drugbank Compounds for SLC12A6 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Potassium Chloride
  • Chlorid draselny [Czech]
7447-40-7 target
Potassium Chloride
  • Chlorid draselny [Czech]
7447-40-7 transporter substrate

(1) IUPHAR Ligand for SLC12A6 Gene

Ligand Type Action Affinity Pubmed IDs
DIOA Inhibitor Inhibition

(4) Novoseek inferred chemical compound relationships for SLC12A6 Gene

Compound -log(P) Hits PubMed IDs
potassium chloride 72.1 4
n-ethylmaleimide 67.3 3
furosemide 39.7 2
phosphatidylinositol 22.9 1
genes like me logo Genes that share compounds with SLC12A6: view

Transcripts for SLC12A6 Gene

Unigene Clusters for SLC12A6 Gene

Solute carrier family 12 (potassium/chloride transporters), member 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A6 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a ·
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: -
SP5: - -
SP6: - - -
SP7: -
SP8: - - - - - -
SP9: - - - - - - -
SP10: - - - - - -
SP11:
SP12:
SP13:

ExUns: 18b ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24a · 24b · 24c ^ 25a · 25b · 25c ^ 26 ^ 27 ^ 28 ^ 29a · 29b
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4: - - - -
SP5: - - - -
SP6: - - - -
SP7: - - - -
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:

Relevant External Links for SLC12A6 Gene

GeneLoc Exon Structure for
SLC12A6
ECgene alternative splicing isoforms for
SLC12A6

Expression for SLC12A6 Gene

mRNA expression in normal human tissues for SLC12A6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC12A6 Gene

This gene is overexpressed in Whole Blood (5.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC12A6 Gene

SOURCE GeneReport for Unigene cluster for SLC12A6 Gene Hs.510939

mRNA Expression by UniProt/SwissProt for SLC12A6 Gene

Q9UHW9-S12A6_HUMAN
Tissue specificity: Highly expressed in heart, brain and kidney. Detected at lower levels in skeletal muscle, placenta, lung and pancreas. Detected in umbilical vein endothelial cells. Isoform 2 is more abundant in kidney. Isoform 5 is testis specific. Expressed in the proximal tubule of the kidney (at protein level).
genes like me logo Genes that share expressions with SLC12A6: view

Orthologs for SLC12A6 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC12A6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC12A6 35
  • 99.83 (n)
  • 99.91 (a)
SLC12A6 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC12A6 35
  • 92.78 (n)
  • 98.87 (a)
SLC12A6 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC12A6 35
  • 92.75 (n)
  • 98.7 (a)
SLC12A6 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm21985 36
  • 98 (a)
OneToMany
Slc12a6 35
  • 90.61 (n)
  • 98.17 (a)
Slc12a6 16
Slc12a6 36
  • 98 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SLC12A6 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC12A6 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc12a6 35
  • 91.07 (n)
  • 98.26 (a)
lizard
(Anolis carolinensis)
Reptilia SLC12A6 36
  • 90 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398663 35
tropical clawed frog
(Silurana tropicalis)
Amphibia slc12a6 35
  • 72.13 (n)
  • 79.81 (a)
Str.7199 35
zebrafish
(Danio rerio)
Actinopterygii SLC12A6 (1 of 2) 36
  • 62 (a)
OneToMany
SLC12A6 (2 of 2) 36
  • 83 (a)
OneToMany
slc12a7b 35
  • 67.54 (n)
  • 71.55 (a)
fruit fly
(Drosophila melanogaster)
Insecta kcc 36
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea kcc-2 36
  • 46 (a)
OneToMany
K02A2.3 37
  • 37 (a)
R13A1.2 37
  • 44 (a)
H16O14.1 37
  • 48 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10069 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2084 36
  • 55 (a)
OneToMany
Species with no ortholog for SLC12A6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC12A6 Gene

ENSEMBL:
Gene Tree for SLC12A6 (if available)
TreeFam:
Gene Tree for SLC12A6 (if available)

Paralogs for SLC12A6 Gene

Paralogs for SLC12A6 Gene

genes like me logo Genes that share paralogs with SLC12A6: view

Variants for SLC12A6 Gene

Sequence variations from dbSNP and Humsavar for SLC12A6 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs104017 -- 34,329,551(+) GAGAA(C/G)AAAAG intron-variant
rs168335 -- 34,286,648(+) aaaat(A/T)agctg intron-variant
rs180886 -- 34,328,835(+) CTACA(A/G)TTGTG intron-variant
rs184718 -- 34,322,822(+) aaaac(A/C)caaaa intron-variant
rs186986 -- 34,322,813(+) tctcc(A/C)ctaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC12A6 Gene

Variant ID Type Subtype PubMed ID
esv33337 CNV Gain+Loss 17666407
esv2659969 CNV Deletion 23128226
dgv730e1 CNV Complex 17122850
dgv731e1 CNV Complex 17122850
nsv428303 CNV Gain 18775914
nsv471682 CNV Gain+Loss 15918152
esv2662279 CNV Deletion 23128226
nsv819906 CNV Loss 19587683
nsv469547 CNV Loss 16826518
dgv732e1 CNV Complex 17122850
esv2749547 CNV Deletion 23290073
nsv482995 CNV Loss 15286789

Relevant External Links for SLC12A6 Gene

HapMap Linkage Disequilibrium report
SLC12A6
Human Gene Mutation Database (HGMD)
SLC12A6
Locus Specific Mutation Databases (LSDB)
SLC12A6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC12A6 Gene

Disorders for SLC12A6 Gene

(1) OMIM Diseases for SLC12A6 Gene (604878)

UniProtKB/Swiss-Prot

S12A6_HUMAN
  • Agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) [MIM:218000]: A disease that is characterized by severe progressive sensorimotor neuropathy, mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for SLC12A6 Gene

(4) Novoseek inferred disease relationships for SLC12A6 Gene

Disease -log(P) Hits PubMed IDs
andermann syndrome 96.2 8
myoclonic epilepsy juvenile 65.9 1
sensory neuropathy 61.2 2
tumors 0 1

Relevant External Links for SLC12A6

GeneTests
SLC12A6
GeneReviews
SLC12A6
Genetic Association Database (GAD)
SLC12A6
Human Genome Epidemiology (HuGE) Navigator
SLC12A6
genes like me logo Genes that share disorders with SLC12A6: view

Publications for SLC12A6 Gene

  1. Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter. (PMID: 10187864) Hiki K. … Gamble J.R. (J. Biol. Chem. 1999) 2 3 4 23
  2. Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family. (PMID: 10347194) Mount D.B. … Gamba G. (J. Biol. Chem. 1999) 2 3 4 23
  3. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. (PMID: 12368912) Howard H.C. … Rouleau G.A. (Nat. Genet. 2002) 3 4 23 48
  4. Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter. (PMID: 10600773) Race J.E. … Holtzman E.J. (Am. J. Physiol. 1999) 3 4 23
  5. NH2-terminal heterogeneity in the KCC3 K+-Cl- cotransporter. (PMID: 16048901) Mercado A. … Mount D.B. (Am. J. Physiol. 2005) 3 4 23

Products for SLC12A6 Gene

Sources for SLC12A6 Gene

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