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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
  • Member 8 2

External Ids for SLC12A8 Gene

Previous GeneCards Identifiers for SLC12A8 Gene

  • GC03M121548
  • GC03M124832
  • GC03M126083
  • GC03M126122
  • GC03M126284
  • GC03M122175
  • GC03M124801

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. GO annotations related to this gene include ATPase activity, coupled to transmembrane movement of substances and 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

Regulatory Elements for SLC12A8 Gene

Genomic Location for SLC12A8 Gene

Chromosome:
3
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

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:
    78239 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

  • Glycosylation at Asn 221
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC12A8 Gene

Antibody Products

No data available for DME Specific Peptides for SLC12A8 Gene

Domains & Families for SLC12A8 Gene

Gene Families for SLC12A8 Gene

Protein Domains for SLC12A8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC12A8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A0AV02

UniProtKB/Swiss-Prot:

S12A8_HUMAN :
  • Belongs to the SLC12A transporter family.
Family:
  • Belongs to the SLC12A transporter family.
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:0015379 potassium:chloride symporter activity IBA --
GO:0022820 potassium ion symporter activity IBA --
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

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC12A8

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
nucleus 2

Gene Ontology (GO) - Cellular Components for SLC12A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with SLC12A8: view

Pathways & Interactions 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:0006884 cell volume homeostasis IBA --
GO:0010107 potassium ion import IBA --
GO:0055064 chloride ion homeostasis IBA --
GO:0055075 potassium ion homeostasis IBA --
genes like me logo Genes that share ontologies with SLC12A8: view

No data available for Pathways by source and SIGNOR curated interactions for SLC12A8 Gene

Drugs & Compounds for SLC12A8 Gene

(1) Additional Compounds for SLC12A8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC12A8

Flow Cytometry Products

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 (x8.2).

Protein differential expression in normal tissues from HIPED for SLC12A8 Gene

This gene is overexpressed in Fetal heart (49.0) and Platelet (20.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SLC12A8: view

Protein tissue co-expression partners for SLC12A8 Gene

Primer Products

In Situ Assay Products

Orthologs for SLC12A8 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC12A8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC12A8 35
  • 86.41 (n)
  • 86.13 (a)
SLC12A8 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC12A8 35
  • 87.31 (n)
  • 87.5 (a)
SLC12A8 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc12a8 35
  • 82.64 (n)
  • 81.4 (a)
Slc12a8 16
Slc12a8 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC12A8 35
  • 99.02 (n)
  • 98.46 (a)
SLC12A8 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc12a8 35
  • 80.84 (n)
  • 79.17 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC12A8 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC12A8 36
  • 21 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC12A8 35
  • 68.95 (n)
  • 68.05 (a)
SLC12A8 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 56 (a)
OneToMany
-- 36
  • 72 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488646 35
  • 58.57 (n)
  • 50.16 (a)
Str.18155 35
zebrafish
(Danio rerio)
Actinopterygii slc12a8 35
  • 62.74 (n)
  • 63.18 (a)
wufi11e03 35
slc12a8 36
  • 60 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006249 35
  • 53.81 (n)
  • 43.1 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12773 35
  • 54.04 (n)
  • 43.19 (a)
CG12773 36
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F10E7.9 35
  • 47.92 (n)
  • 40.78 (a)
F10E7.9 36
  • 38 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(6) 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
rs6438883 -- 125,209,124(+) AGGGC(C/T)AGCCA intron-variant
rs6762089 -- 125,172,977(+) agttc(A/G)agacc intron-variant
rs6762297 -- 125,173,199(+) acaaa(A/G)aaaCC intron-variant
rs6762589 -- 125,208,361(+) CAGCT(A/G)TGCTG intron-variant
rs6763338 -- 125,168,389(+) TAATT(A/C)AAGAT 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

Variation tolerance for SLC12A8 Gene

Residual Variation Intolerance Score: 68.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.30; 70.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC12A8 Gene

HapMap Linkage Disequilibrium report
SLC12A8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC12A8 Gene

Disorders for SLC12A8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC12A8 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
psoriasis
- elite association

UniProtKB/Swiss-Prot

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

Relevant External Links for SLC12A8

Genetic Association Database (GAD)
SLC12A8
Human Genome Epidemiology (HuGE) Navigator
SLC12A8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC12A8
genes like me logo Genes that share disorders with SLC12A8: view

No data available for Genatlas for SLC12A8 Gene

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 23 67
  2. 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) 23 67
  3. 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) 67
  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) 67
  5. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 67

Products for SLC12A8 Gene

Sources for SLC12A8 Gene

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