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Aliases for SLC12A5 Gene

Aliases for SLC12A5 Gene

  • Solute Carrier Family 12 (Potassium/Chloride Transporter), Member 5 2 3
  • KCC2 3 4 6
  • Electroneutral Potassium-Chloride Cotransporter 2 3 4
  • Neuronal K-Cl Cotransporter 3 4
  • K-Cl Cotransporter 2 3 4
  • KIAA1176 4 6
  • HKCC2 3 4
  • Solute Carrier Family 12 Member 5 3
  • Erythroid K-Cl Cotransporter 2 3

External Ids for SLC12A5 Gene

Previous GeneCards Identifiers for SLC12A5 Gene

  • GC20P044386
  • GC20P045296
  • GC20P045343
  • GC20P044091
  • GC20P044651
  • GC20P041391

Summaries for SLC12A5 Gene

Entrez Gene Summary for SLC12A5 Gene

  • 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]

GeneCards Summary for SLC12A5 Gene

SLC12A5 (Solute Carrier Family 12 (Potassium/Chloride Transporter), Member 5) is a Protein Coding gene. Diseases associated with SLC12A5 include gitelman syndrome and hypothalamic hamartomas. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Circadian entrainment. GO annotations related to this gene include potassium:chloride symporter activity. An important paralog of this gene is SLC12A2.

UniProtKB/Swiss-Prot for SLC12A5 Gene

  • Mediates electroneutral potassium-chloride cotransport in mature neurons. Transport occurs under isotonic conditions, but is activated 20-fold by cell swelling. Important for Cl(-) homeostasis in neurons

Gene Wiki entry for SLC12A5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC12A5 Gene

Genomics for SLC12A5 Gene

Regulatory Elements for SLC12A5 Gene

Genomic Location for SLC12A5 Gene

Start:
46,021,690 bp from pter
End:
46,060,150 bp from pter
Size:
38,461 bases
Orientation:
Plus strand

Genomic View for SLC12A5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC12A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC12A5 Gene

Proteins for SLC12A5 Gene

  • Protein details for SLC12A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2X9-S12A5_HUMAN
    Recommended name:
    Solute carrier family 12 member 5
    Protein Accession:
    Q9H2X9
    Secondary Accessions:
    • A2RTX2
    • Q5VZ41
    • Q9H4Z0
    • Q9ULP4

    Protein attributes for SLC12A5 Gene

    Size:
    1139 amino acids
    Molecular mass:
    126184 Da
    Quaternary structure:
    • Homomultimer and heteromultimer with other K-Cl cotransporters. Interacts with AP2A1 (By similarity).
    Miscellaneous:
    • Inhibited by furosemide and bumetanide

    Alternative splice isoforms for SLC12A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC12A5 Gene

Proteomics data for SLC12A5 Gene at MOPED

Post-translational modifications for SLC12A5 Gene

  • Glycosylation at Asn442 and Asn833
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC12A5 Gene

No data available for DME Specific Peptides for SLC12A5 Gene

Domains for SLC12A5 Gene

Gene Families for SLC12A5 Gene

Protein Domains for SLC12A5 Gene

Suggested Antigen Peptide Sequences for SLC12A5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H2X9

UniProtKB/Swiss-Prot:

S12A5_HUMAN :
  • Q9H2X9
Family:
  • Belongs to the SLC12A transporter family.
genes like me logo Genes that share domains with SLC12A5: view

Function for SLC12A5 Gene

Molecular function for SLC12A5 Gene

UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by WNK3.
UniProtKB/Swiss-Prot Function: Mediates electroneutral potassium-chloride cotransport in mature neurons. Transport occurs under isotonic conditions, but is activated 20-fold by cell swelling. Important for Cl(-) homeostasis in neurons

Gene Ontology (GO) - Molecular Function for SLC12A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0015377 cation:chloride symporter activity --
GO:0015379 potassium:chloride symporter activity NAS 12106695
GO:0019901 protein kinase binding IPI 24393035
genes like me logo Genes that share ontologies with SLC12A5: view
genes like me logo Genes that share phenotypes with SLC12A5: view

Animal Models for SLC12A5 Gene

MGI Knock Outs for SLC12A5:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC12A5 Gene

Localization for SLC12A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC12A5 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC12A5 Gene COMPARTMENTS Subcellular localization image for SLC12A5 gene
Compartment Confidence
plasma membrane 4
cytosol 1

Gene Ontology (GO) - Cellular Components for SLC12A5 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 12106695
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with SLC12A5: view

Pathways for SLC12A5 Gene

genes like me logo Genes that share pathways with SLC12A5: view

Interacting Proteins for SLC12A5 Gene

Gene Ontology (GO) - Biological Process for SLC12A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport NAS 12106695
GO:0006811 ion transport TAS --
GO:0006813 potassium ion transport IEA --
GO:0006821 chloride transport --
GO:0006873 cellular ion homeostasis NAS 12106695
genes like me logo Genes that share ontologies with SLC12A5: view

Compounds for SLC12A5 Gene

(2) HMDB Compounds for SLC12A5 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6
Furosemide
  • Acetic acid potassium salt
54-31-9

(3) Drugbank Compounds for SLC12A5 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Bumetanide
  • Bumetanida [INN-Spanish]
28395-03-1 target inhibitor
Potassium Chloride
  • Chlorid draselny [Czech]
7447-40-7 target
Potassium Chloride
  • Chlorid draselny [Czech]
7447-40-7 transporter substrate

(2) IUPHAR Ligand for SLC12A5 Gene

Ligand Type Action Affinity Pubmed IDs
DIOA Inhibitor Inhibition
VU0240551 Inhibitor Inhibition

(10) Novoseek inferred chemical compound relationships for SLC12A5 Gene

Compound -log(P) Hits PubMed IDs
bumetanide 82.9 1
potassium chloride 79.2 10
gaba 78.6 33
chloride 78.1 24
furosemide 71.3 4
genes like me logo Genes that share compounds with SLC12A5: view

Transcripts for SLC12A5 Gene

Unigene Clusters for SLC12A5 Gene

Solute carrier family 12 (potassium/chloride transporter), member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A5 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - -
SP2: -
SP3: - - -
SP4:
SP5:
SP6:

ExUns: 23a · 23b ^ 24a · 24b ^ 25 ^ 26
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for SLC12A5 Gene

GeneLoc Exon Structure for
SLC12A5
ECgene alternative splicing isoforms for
SLC12A5

Expression for SLC12A5 Gene

mRNA expression in normal human tissues for SLC12A5 Gene

mRNA differential expression in normal tissues according to GTEx for SLC12A5 Gene

This gene is overexpressed in Brain - Cerebellum (7.3), Brain - Cerebellar Hemisphere (7.3), Brain - Frontal Cortex (BA9) (6.5), Brain - Cortex (5.3), and Brain - Anterior cingulate cortex (BA24) (5.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SLC12A5 Gene

SOURCE GeneReport for Unigene cluster for SLC12A5 Gene Hs.21413

mRNA Expression by UniProt/SwissProt for SLC12A5 Gene

Q9H2X9-S12A5_HUMAN
Tissue specificity: Brain specific. Detected in neuronal cells
genes like me logo Genes that share expressions with SLC12A5: view

Orthologs for SLC12A5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC12A5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC12A5 35
  • 99.03 (n)
  • 99.09 (a)
SLC12A5 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC12A5 35
  • 93.37 (n)
  • 99.01 (a)
SLC12A5 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC12A5 35
  • 93.3 (n)
  • 97.73 (a)
SLC12A5 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc12a5 35
  • 90.91 (n)
  • 98.83 (a)
Slc12a5 16
Slc12a5 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC12A5 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC12A5 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc12a5 35
  • 90.74 (n)
  • 98.75 (a)
chicken
(Gallus gallus)
Aves SLC12A5 35
  • 84.16 (n)
  • 93.12 (a)
SLC12A5 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC12A5 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc12a5 35
  • 75.7 (n)
  • 87.23 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC572215 35
  • 73.97 (n)
  • 78.81 (a)
slc12a5a 36
  • 78 (a)
OneToMany
slc12a5b 36
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta kcc 36
  • 53 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea kcc-2 36
  • 44 (a)
OneToMany
K02A2.3 37
  • 38 (a)
R13A1.2 37
  • 44 (a)
H16O14.1 37
  • 45 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons CCC1 35
  • 50.25 (n)
  • 42.05 (a)
rice
(Oryza sativa)
Liliopsida Os08g0323700 35
  • 48.03 (n)
  • 32.24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2084 36
  • 53 (a)
OneToMany
Species with no ortholog for SLC12A5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC12A5 Gene

ENSEMBL:
Gene Tree for SLC12A5 (if available)
TreeFam:
Gene Tree for SLC12A5 (if available)

Paralogs for SLC12A5 Gene

Paralogs for SLC12A5 Gene

genes like me logo Genes that share paralogs with SLC12A5: view

Variants for SLC12A5 Gene

Sequence variations from dbSNP and Humsavar for SLC12A5 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs9074 -- 46,060,026(+) GAAAA(A/G)GAGAG utr-variant-3-prime
rs1128536 -- 46,059,360(+) GTTAC(A/G)CCAAG utr-variant-3-prime
rs2297196 -- 46,044,725(+) GGGGA(C/T)GTGGG intron-variant
rs2297197 -- 46,044,907(+) GAGAC(C/G)TGCCC intron-variant
rs2297198 -- 46,045,644(+) TTTCC(C/T)CCTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC12A5 Gene

Variant ID Type Subtype PubMed ID
nsv833991 CNV Loss 17160897

Relevant External Links for SLC12A5 Gene

HapMap Linkage Disequilibrium report
SLC12A5
Human Gene Mutation Database (HGMD)
SLC12A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC12A5 Gene

Disorders for SLC12A5 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for SLC12A5 Gene including...

Search for SLC12A5 Gene in MalaCards »

(1) University of Copenhagen DISEASES for SLC12A5 Gene

(2) Novoseek inferred disease relationships for SLC12A5 Gene

Disease -log(P) Hits PubMed IDs
epilepsy 54.6 8
dysplasia 0 3

Relevant External Links for SLC12A5

Genetic Association Database (GAD)
SLC12A5
Human Genome Epidemiology (HuGE) Navigator
SLC12A5
genes like me logo Genes that share disorders with SLC12A5: view

No data available for UniProtKB/Swiss-Prot for SLC12A5 Gene

Publications for SLC12A5 Gene

  1. Heterogeneity in gene loci associated with type 2 diabetes on human chromosome 20q13.1. (PMID: 18602983) Bento J.L. … Mychaleckyj J.C. (Genomics 2008) 3 23 48
  2. Opposite effect of membrane raft perturbation on transport activity of KCC2 and NKCC1. (PMID: 19686239) Hartmann A.M. … Nothwang H.G. (J. Neurochem. 2009) 3 23
  3. Chromosomal localization of SLC12A5/Slc12a5, the human and mouse genes for the neuron-specific K(+)-Cl(-) cotransporter (KCC2) defines a new region of conserved homology. (PMID: 11701957) Sallinen R. … Wessman M. (Cytogenet. Cell Genet. 2001) 3 23
  4. A novel N-terminal isoform of the neuron-specific K-Cl cotransporter KCC2. (PMID: 17715129) Uvarov P. … Airaksinen M.S. (J. Biol. Chem. 2007) 3 23
  5. A C-terminal domain in KCC2 confers constitutive K+-Cl- cotransport. (PMID: 16291749) Mercado A. … Mount D.B. (J. Biol. Chem. 2006) 3 23

Products for SLC12A5 Gene

  • antibodies-online peptides for SLC12A5
  • antibodies-online antibodies for SLC12A5
  • antibodies-online kits for SLC12A5

Sources for SLC12A5 Gene

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