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

Gene ID: 84561, updated on 2-Nov-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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See SLC12A8 in Genome Data Viewer
Location:
3q21.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (125082644..125212748, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (127808303..127940353, complement)
RS_2024_09 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 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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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)

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_2024_08

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.

Chemical Information
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