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    SLC12A8 solute carrier family 12 member 8 [ Homo sapiens (human) ]

    Gene ID: 84561, updated on 5-Mar-2024

    Summary

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    Official Symbol
    SLC12A8provided by HGNC
    Official Full Name
    solute carrier family 12 member 8provided by HGNC
    Primary source
    HGNC:HGNC:15595
    See related
    Ensembl:ENSG00000221955 MIM:611316; AllianceGenome:HGNC:15595
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCC9
    Summary
    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]
    Expression
    Broad expression in thyroid (RPKM 11.6), gall bladder (RPKM 6.0) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q21.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (125082644..125212748, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (127808303..127940353, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (124801488..124931592, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909423 Neighboring gene uncharacterized LOC124906278 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:124826256-124826756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:124826757-124827257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20414 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20415 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20416 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124839854-124840359 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124839347-124839853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20417 Neighboring gene RNA, U6 small nuclear 230, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14661 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:124860668-124861491 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124862005-124862958 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20423 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20425 Neighboring gene NANOG hESC enhancer GRCh37_chr3:124872987-124873488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20426 Neighboring gene microRNA 5092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20427 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:124930713-124931312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14665 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:124950809-124952008 Neighboring gene zinc finger protein 148 Neighboring gene NANOG hESC enhancer GRCh37_chr3:125058886-125059484 Neighboring gene deoxyuridine triphosphatase pseudogene 1 Neighboring gene DNAJB6 pseudogene 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Solute carrier family 12 member 8 (SLC12A8) is a potential biomarker and related to tumor immune cell infiltration in bladder cancer. Zhang Q, et al. Bioengineered, 2021 Dec. PMID 34365894, Free PMC Article
    2. Molecular characterization of a human cation-Cl- cotransporter (SLC12A8A, CCC9A) that promotes polyamine and amino acid transport. Daigle ND, et al. J Cell Physiol, 2009 Sep. PMID 19472210
    3. Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris. Hüffmeier U, et al. J Invest Dermatol, 2005 Nov. PMID 16297188
    4. Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map. Hewett D, et al. Genomics, 2002 Mar. PMID 11863360
    5. Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts. Gagnon KB, et al. Am J Physiol Cell Physiol, 2013 Apr 15. PMID 23325410, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SLC12A8 mediates TKI resistance in EGFR-mutant lung cancer via PDK1/AKT axis.
      Title: SLC12A8 mediates TKI resistance in EGFR-mutant lung cancer via PDK1/AKT axis.
    2. [SLC12A8 promotes proliferation, invasiveness, migration and epithelial-mesenchymal transition of bladder cancer cells by activating JAK/STAT singaling].
      Title: [SLC12A8 promotes proliferation, invasiveness, migration and epithelial-mesenchymal transition of bladder cancer cells by activating JAK/STAT singaling].
    3. Solute carrier family 12 member 8 (SLC12A8) is a potential biomarker and related to tumor immune cell infiltration in bladder cancer.
      Title: Solute carrier family 12 member 8 (SLC12A8) is a potential biomarker and related to tumor immune cell infiltration in bladder cancer.
    4. Review summarizes three human disorders that have been linked to the mutation/dysfunction of Na-Cl, Na-K-2Cl, and K-Cl cotransporters (Bartter's, Gitleman's, and Andermann's syndromes).
      Title: Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.
    5. Molecular characterization of a human cation-Cl- cotransporter (SLC12A8A, CCC9A) that promotes polyamine and amino acid transport.
      Title: Molecular characterization of a human cation-Cl- cotransporter (SLC12A8A, CCC9A) that promotes polyamine and amino acid transport.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris.
    7. SLC12A8 is a susceptibility locus for psoriasis vulgaris.
      Title: Systematic linkage disequilibrium analysis of SLC12A8 at PSORS5 confirms a role in susceptibility to psoriasis vulgaris.
    8. Maps to 3q21. Associated with suseptibility to psoriasis
      Title: Identification of a psoriasis susceptibility candidate gene by linkage disequilibrium mapping with a localized single nucleotide polymorphism map.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: ZNF148

    Homology

    Clone Names

    • FLJ23188, DKFZp686L18248

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables potassium:chloride symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell volume homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chloride ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in potassium ion import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    solute carrier family 12 member 8
    Names
    cation-chloride cotransporter 9
    solute carrier family 12 (sodium/potassium/chloride transporters), member 8

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_027706.2 RefSeqGene

      Range
      5000..135104
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195483.2 → NP_001182412.2  solute carrier family 12 member 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC055752, AC108688, AC117488, KF459585
      Consensus CDS
      CCDS43143.1
      UniProtKB/Swiss-Prot
      A0AV02, C9JJJ2, Q68D04, Q6I9Z2, Q6P4C0, Q7Z3A6, Q86WK0, Q8NFX9, Q8WUI3, Q96RF9, Q9H5P9
      UniProtKB/TrEMBL
      B3KVN1
      Related
      ENSP00000377112.4, ENST00000393469.8
      Conserved Domains (1) summary
      TIGR00930
      Location:35 → 407
      2a30; K-Cl cotransporter

    2. NM_024628.6 → NP_078904.4  solute carrier family 12 member 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC055752, AC108688, AC117488, KF459585
      Consensus CDS
      CCDS43143.1
      UniProtKB/Swiss-Prot
      A0AV02, C9JJJ2, Q68D04, Q6I9Z2, Q6P4C0, Q7Z3A6, Q86WK0, Q8NFX9, Q8WUI3, Q96RF9, Q9H5P9
      UniProtKB/TrEMBL
      B3KVN1
      Related
      ENSP00000418783.1, ENST00000469902.6
      Conserved Domains (1) summary
      TIGR00930
      Location:35 → 407
      2a30; K-Cl cotransporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      125082644..125212748 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      127808303..127940353 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0AV02.4 GenPept UniProtKB/Swiss-Prot:A0AV02

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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