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Aliases for SLC12A8 Gene

Aliases for SLC12A8 Gene

  • Solute Carrier Family 12, Member 8 2 3
  • Cation-Chloride Cotransporter 9 2 3 4
  • CCC9 3 4
  • Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters), Member 8 3
  • Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters) 2
  • Solute Carrier Family 12 Member 8 3
  • Member 8 2

External Ids for SLC12A8 Gene

Summaries for SLC12A8 Gene

Entrez Gene Summary for SLC12A8 Gene

  • This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2010]

GeneCards Summary for SLC12A8 Gene

SLC12A8 (Solute Carrier Family 12, Member 8) is a Protein Coding gene. Diseases associated with SLC12A8 include psoriasis and gitelman syndrome. GO annotations related to this gene include symporter activity. An important paralog of this gene is SLC12A2.

UniProtKB/Swiss-Prot for SLC12A8 Gene

  • Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation.

Gene Wiki entry for SLC12A8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC12A8 Gene

Genomics for SLC12A8 Gene

Genomic Location for SLC12A8 Gene

Start:
125,082,636 bp from pter
End:
125,212,864 bp from pter
Size:
130,229 bases
Orientation:
Minus strand

Genomic View for SLC12A8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC12A8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC12A8 Gene

Regulatory Elements for SLC12A8 Gene

Proteins for SLC12A8 Gene

  • Protein details for SLC12A8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A0AV02-S12A8_HUMAN
    Recommended name:
    Solute carrier family 12 member 8
    Protein Accession:
    A0AV02
    Secondary Accessions:
    • C9JJJ2
    • Q68D04
    • Q6I9Z2
    • Q6P4C0
    • Q7Z3A6
    • Q86WK0
    • Q8NFX9
    • Q8WUI3
    • Q96RF9
    • Q9H5P9

    Protein attributes for SLC12A8 Gene

    Size:
    714 amino acids
    Molecular mass:
    78223 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH20506.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH63528.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH63528.1; Type=Frameshift; Positions=569; Evidence={ECO:0000305}; Sequence=AAK94307.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAM73657.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAD97969.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC12A8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC12A8 Gene

Proteomics data for SLC12A8 Gene at MOPED

Post-translational modifications for SLC12A8 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn221

Other Protein References for SLC12A8 Gene

No data available for DME Specific Peptides for SLC12A8 Gene

Domains for SLC12A8 Gene

Gene Families for SLC12A8 Gene

Protein Domains for SLC12A8 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

S12A8_HUMAN
Family:
  • Belongs to the SLC12A transporter family.:
    • A0AV02
genes like me logo Genes that share domains with SLC12A8: view

Function for SLC12A8 Gene

Molecular function for SLC12A8 Gene

UniProtKB/Swiss-Prot Function: Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation.

Gene Ontology (GO) - Molecular Function for SLC12A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding --
GO:0015293 symporter activity IEA --
GO:0042626 ATPase activity, coupled to transmembrane movement of substances --
genes like me logo Genes that share ontologies with SLC12A8: view

Phenotypes for SLC12A8 Gene

MGI mutant phenotypes for SLC12A8:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with SLC12A8: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SLC12A8 Gene

Localization for SLC12A8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC12A8 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC12A8 Gene COMPARTMENTS Subcellular localization image for SLC12A8 gene
Compartment Confidence
plasma membrane 3
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for SLC12A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC12A8: view

Pathways for SLC12A8 Gene

SuperPathways for SLC12A8 Gene

No Data Available

Interacting Proteins for SLC12A8 Gene

Gene Ontology (GO) - Biological Process for SLC12A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0006813 potassium ion transport IEA --
GO:0055085 transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC12A8: view

No data available for Pathways by source for SLC12A8 Gene

Compounds for SLC12A8 Gene

(1) HMDB Compounds for SLC12A8 Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6
genes like me logo Genes that share compounds with SLC12A8: view

Transcripts for SLC12A8 Gene

Unigene Clusters for SLC12A8 Gene

Solute carrier family 12 (potassium/chloride transporters), member 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC12A8 Gene

No ASD Table

Relevant External Links for SLC12A8 Gene

GeneLoc Exon Structure for
SLC12A8
ECgene alternative splicing isoforms for
SLC12A8

Expression for SLC12A8 Gene

mRNA expression in normal human tissues for SLC12A8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC12A8 Gene

This gene is overexpressed in Thyroid (8.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SLC12A8 Gene

SOURCE GeneReport for Unigene cluster for SLC12A8 Gene Hs.658514

mRNA Expression by UniProt/SwissProt for SLC12A8 Gene

A0AV02-S12A8_HUMAN
Tissue specificity: Ubiquitous with very low level in normal skin.
genes like me logo Genes that share expressions with SLC12A8: view

Orthologs for SLC12A8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC12A8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC12A8 36
  • 99.02 (n)
  • 98.46 (a)
SLC12A8 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC12A8 36
  • 86.41 (n)
  • 86.13 (a)
SLC12A8 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC12A8 36
  • 87.31 (n)
  • 87.5 (a)
SLC12A8 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc12a8 36
  • 82.64 (n)
  • 81.4 (a)
Slc12a8 16
Slc12a8 37
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC12A8 37
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC12A8 37
  • 21 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc12a8 36
  • 80.84 (n)
  • 79.17 (a)
chicken
(Gallus gallus)
Aves SLC12A8 36
  • 68.95 (n)
  • 68.05 (a)
SLC12A8 37
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 56 (a)
OneToMany
-- 37
  • 72 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488646 36
  • 58.57 (n)
  • 50.16 (a)
Str.18155 36
zebrafish
(Danio rerio)
Actinopterygii slc12a8 36
  • 62.74 (n)
  • 63.18 (a)
slc12a8 37
  • 60 (a)
OneToOne
wufi11e03 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006249 36
  • 53.81 (n)
  • 43.1 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12773 36
  • 54.04 (n)
  • 43.19 (a)
CG12773 37
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F10E7.9 36
  • 47.92 (n)
  • 40.78 (a)
F10E7.9 37
  • 38 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 45 (a)
OneToOne
Species with no ortholog for SLC12A8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 (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 SLC12A8 Gene

ENSEMBL:
Gene Tree for SLC12A8 (if available)
TreeFam:
Gene Tree for SLC12A8 (if available)

Paralogs for SLC12A8 Gene

Paralogs for SLC12A8 Gene

Selected SIMAP similar genes for SLC12A8 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with SLC12A8: view

Variants for SLC12A8 Gene

Sequence variations from dbSNP and Humsavar for SLC12A8 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs13975 -- 125,083,387(-) AGGAA(A/G)TCTGG utr-variant-3-prime
rs474365 -- 125,199,053(-) cgcct(A/G)taatc intron-variant
rs475147 -- 125,199,019(-) gggtg(A/G)atcac intron-variant
rs475155 -- 125,199,014(-) gatca(C/T)gaggt intron-variant
rs481018 -- 125,108,694(+) GGGGC(A/T)TTATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC12A8 Gene

Variant ID Type Subtype PubMed ID
nsv829712 CNV Loss 17160897
esv34126 CNV Loss 18971310
nsv10311 CNV Gain 18304495
nsv3982 CNV Insertion 18451855
nsv523278 CNV Loss 19592680
esv990342 CNV Gain 20482838
nsv819353 CNV Loss 19587683
esv989274 CNV Insertion 20482838
esv1521223 CNV Insertion 17803354
esv2551779 CNV Deletion 19546169
nsv513070 CNV Loss 21212237
esv2119517 CNV Deletion 18987734
esv2725853 CNV Deletion 23290073
esv2675147 CNV Deletion 23128226
nsv877406 CNV Gain 21882294
nsv511221 CNV Loss 21212237

Relevant External Links for SLC12A8 Gene

HapMap Linkage Disequilibrium report
SLC12A8

Disorders for SLC12A8 Gene

UniProtKB/Swiss-Prot

S12A8_HUMAN
  • Note=SLC12A8 has been identified as a possible susceptibility gene for psoriasis mapped to chromosome 3q21 (PSORS5).

(2) MalaCards Diseases for SLC12A8 Gene

Search for SLC12A8 Gene in MalaCards »

(1) University of Copenhagen DISEASES for SLC12A8 Gene

Relevant External Links for SLC12A8

Genetic Association Database (GAD)
SLC12A8
Human Genome Epidemiology (HuGE) Navigator
SLC12A8
genes like me logo Genes that share disorders with SLC12A8: view

Publications for SLC12A8 Gene

  1. Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map. (PMID: 11863360) Hewett D. … Purvis I. (Genomics 2002) 2 3 4 23
  2. Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris. (PMID: 16297188) Hueffmeier U. … Reis A. (J. Invest. Dermatol. 2005) 3 4 49
  3. Molecular characterization of a human cation-Cl- cotransporter (SLC12A8A, CCC9A) that promotes polyamine and amino acid transport. (PMID: 19472210) Daigle N.D. … Isenring P. (J. Cell. Physiol. 2009) 3 23
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  5. Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts. (PMID: 23325410) Gagnon K.B. … Delpire E. (Am. J. Physiol., Cell Physiol. 2013) 3

Products for SLC12A8 Gene

Sources for SLC12A8 Gene

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