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Aliases for SLC12A8 Gene

Aliases for SLC12A8 Gene

  • Solute Carrier Family 12 Member 8 2 3 5
  • Cation-Chloride Cotransporter 9 2 3 4
  • Solute Carrier Family 12 (Sodium/Potassium/Chloride Transporters), Member 8 2 3
  • CCC9 3 4

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC12A8 Gene

Genomics for SLC12A8 Gene

Regulatory Elements for SLC12A8 Gene

Enhancers for SLC12A8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G125115 1.6 Ensembl ENCODE dbSUPER 18 +94.1 94052 6.4 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 FOS SLC12A8 HEG1 RNU6-232P GC03M125120 RNA5SP137
GH03G125107 1.4 Ensembl ENCODE dbSUPER 16 +103.4 103409 4.4 TBP PKNOX1 TBL1XR1 ARNT RAD21 RFX5 RARA GATA2 RELB ETV6 SLC12A8 HEG1 RNU6-232P GC03M125120 RNA5SP137
GH03G125050 1.7 FANTOM5 ENCODE dbSUPER 10.6 +158.4 158421 7.7 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 SLC30A9 ZNF766 UMPS SLC12A8 LOC101927056 HEG1 PIR63061
GH03G125042 1.4 Ensembl ENCODE dbSUPER 10.8 +169.1 169149 2.6 HDGF PKNOX1 ATF1 FOXA2 NFIB RB1 ARID4B DMAP1 ZNF48 RAD21 RNU6-230P SLC12A8 RNU6-232P HEG1 PIR63061
GH03G125356 0.9 ENCODE 16.4 -144.2 -144196 2.0 HDGF PKNOX1 WRNIP1 ARID4B SIN3A DMAP1 ZNF48 ZNF143 ZNF263 SP5 SLC12A8 RNU6-232P ZNF148 LOC100533621 LOC100421437
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC12A8 on UCSC Golden Path with GeneCards custom track

Promoters for SLC12A8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000157730 265 601 POLR2A RBBP5 ZFX EZH2

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

Genes around SLC12A8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC12A8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for SLC12A8 Gene

  • Glycosylation at Asn221
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC12A8 Gene

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:0015293 symporter activity IEA --
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
genes like me logo Genes that share phenotypes with SLC12A8: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC12A8

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC12A8 gene
Compartment Confidence
plasma membrane 3
nucleus 2

Gene Ontology (GO) - Cellular Components for SLC12A8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
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:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0055085 transmembrane transport IEA --
GO:0071805 potassium ion transmembrane transport IEA --
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) Drugs for SLC12A8 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tumor necrosis factor alpha (TNF-alpha) inhibitors Pharma 0

(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

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for SLC12A8 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC12A8 Gene:

SLC12A8

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.

Evidence on tissue expression from TISSUES for SLC12A8 Gene

  • Intestine(4.1)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with SLC12A8: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC12A8 Gene

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 34 35
  • 99.02 (n)
dog
(Canis familiaris)
Mammalia SLC12A8 34 35
  • 87.31 (n)
cow
(Bos Taurus)
Mammalia SLC12A8 34 35
  • 86.41 (n)
mouse
(Mus musculus)
Mammalia Slc12a8 34 16 35
  • 82.64 (n)
rat
(Rattus norvegicus)
Mammalia Slc12a8 34
  • 80.84 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC12A8 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC12A8 35
  • 21 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC12A8 34 35
  • 68.95 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 72 (a)
OneToMany
-- 35
  • 56 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488646 34
  • 58.57 (n)
Str.18155 34
zebrafish
(Danio rerio)
Actinopterygii slc12a8 34 35
  • 62.74 (n)
wufi11e03 34
fruit fly
(Drosophila melanogaster)
Insecta CG12773 34 35
  • 54.04 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006249 34
  • 53.81 (n)
worm
(Caenorhabditis elegans)
Secernentea F10E7.9 34 35
  • 47.92 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
Species where no ortholog for SLC12A8 was found in the sources mined by GeneCards:
  • 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
rs1000002896 -- 125,212,560(+) CGGGT(-/GA)GACCG intron-variant, upstream-variant-2KB
rs1000008649 -- 125,158,146(+) TCTAA(A/G)GTTTC intron-variant
rs1000020004 -- 125,116,182(+) GGGAA(C/G)CAGAA intron-variant
rs1000021584 -- 125,203,151(+) GCCAT(A/G)CTATG intron-variant
rs1000022434 -- 125,130,003(+) ATAAA(G/T)GATCA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2587n106 CNV deletion 24896259
esv1521223 CNV insertion 17803354
esv2119517 CNV deletion 18987734
esv2551779 CNV deletion 19546169
esv2675147 CNV deletion 23128226
esv2725853 CNV deletion 23290073
esv3377152 CNV duplication 20981092
esv34126 CNV loss 18971310
esv3562490 CNV deletion 23714750
esv3597648 CNV loss 21293372
esv3597649 CNV loss 21293372
esv3597650 CNV loss 21293372
esv3597651 CNV loss 21293372
esv3893772 CNV loss 25118596
esv989274 CNV insertion 20482838
esv990342 CNV gain 20482838
nsv1001677 CNV loss 25217958
nsv10311 CNV gain 18304495
nsv1074619 CNV deletion 25765185
nsv1123685 CNV deletion 24896259
nsv1160974 CNV duplication 26073780
nsv3982 CNV insertion 18451855
nsv511221 CNV loss 21212237
nsv513070 CNV loss 21212237
nsv523278 CNV loss 19592680
nsv591460 CNV loss 21841781
nsv591461 CNV gain+loss 21841781
nsv819353 CNV loss 19587683
nsv829712 CNV loss 17160897
nsv956801 CNV deletion 24416366

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 - COSMIC cancer census association via MalaCards

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 3 4 22 64
  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 46 64
  3. 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 46 64
  4. 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 22 64
  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 64

Products for SLC12A8 Gene

Sources for SLC12A8 Gene

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