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    SLC12A7 solute carrier family 12 member 7 [ Homo sapiens (human) ]

    Gene ID: 10723, updated on 3-Dec-2024

    Summary

    Official Symbol
    SLC12A7provided by HGNC
    Official Full Name
    solute carrier family 12 member 7provided by HGNC
    Primary source
    HGNC:HGNC:10915
    See related
    Ensembl:ENSG00000113504 MIM:604879; AllianceGenome:HGNC:10915
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KCC4
    Summary
    Enables protein kinase binding activity. Predicted to be involved in several processes, including chloride ion homeostasis; inorganic ion transmembrane transport; and potassium ion homeostasis. Part of protein-containing complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 14.3), kidney (RPKM 13.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC12A7 in Genome Data Viewer
    Location:
    5p15.33
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (1050384..1155899, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (955618..1061601, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1050499..1112178, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1004327-1004970 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1004971-1005615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1005616-1006259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1007413-1008178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1008179-1008944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1017054-1017554 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1018687-1019370 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1022097-1022758 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:1024745-1025404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1025625-1026127 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1026128-1026629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1026630-1027132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1028355-1028856 Neighboring gene NKD inhibitor of WNT signaling pathway 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1038746-1039520 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1067605-1068104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1068827-1069326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1073082-1073636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1073637-1074191 Neighboring gene microRNA 4635 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1099659-1100505 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1100506-1101352 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:1106433-1107278 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:1117531-1118064 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1119135-1119668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1128375-1128908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1129443-1129976 Neighboring gene uncharacterized LOC107986396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1131579-1132112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1137285-1137817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1140609-1141452 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1152429-1152954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1167671-1168192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1168193-1168712 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80773 Neighboring gene uncharacterized LOC124900189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1187033-1187726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1187727-1188419 Neighboring gene TERT regulating lncRNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1195313-1196120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1196121-1196928 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1204178-1204741 Neighboring gene solute carrier family 6 member 19

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp434F076

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables potassium:chloride symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables potassium:chloride symporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables potassium:chloride symporter activity TAS
    Traceable Author Statement
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase 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 cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chemical synaptic transmission 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 monoatomic ion transport TAS
    Traceable Author Statement
    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
     
    involved_in potassium ion import across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in potassium ion transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    solute carrier family 12 member 7
    Names
    K-Cl cotransporter 4
    SUCO/SLC12A7 fusion
    electroneutral potassium-chloride cotransporter 4
    potassium/chloride transporter KCC4
    solute carrier family 12 (potassium/chloride transporter), member 7
    solute carrier family 12 (potassium/chloride transporters), member 7

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_006598.3NP_006589.2  solute carrier family 12 member 7

      See identical proteins and their annotated locations for NP_006589.2

      Status: VALIDATED

      Source sequence(s)
      AC116351, AF105365, AK024497, BC098390, BU953746, DB451347
      Consensus CDS
      CCDS34129.1
      UniProtKB/Swiss-Prot
      A6NDS8, Q4G0F3, Q96I81, Q9H7I3, Q9H7I7, Q9UFW2, Q9Y666
      UniProtKB/TrEMBL
      A0A0G2JNW7
      Related
      ENSP00000264930.5, ENST00000264930.10
      Conserved Domains (2) summary
      TIGR00930
      Location:451083
      2a30; K-Cl cotransporter
      pfam03522
      Location:7091083
      SLC12; Solute carrier family 12

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      1050384..1155899 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513941.3XP_011512243.2  solute carrier family 12 member 7 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JNW7
    2. XM_005248231.4XP_005248288.1  solute carrier family 12 member 7 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JNW7
      Conserved Domains (2) summary
      TIGR00930
      Location:451088
      2a30; K-Cl cotransporter
      pfam03522
      Location:7091088
      SLC12; Solute carrier family 12
    3. XM_047416640.1XP_047272596.1  solute carrier family 12 member 7 isoform X5

      UniProtKB/TrEMBL
      A0A0U1RR18
      Related
      ENSP00000489285.1, ENST00000634447.1
    4. XM_017008958.2XP_016864447.1  solute carrier family 12 member 7 isoform X5

      UniProtKB/TrEMBL
      A0A0U1RR18
      Conserved Domains (2) summary
      TIGR00930
      Location:11020
      2a30; K-Cl cotransporter
      pfam03522
      Location:6411020
      SLC12; Solute carrier family 12
    5. XM_011513939.4XP_011512241.1  solute carrier family 12 member 7 isoform X3

      UniProtKB/TrEMBL
      A0A0G2JNW7
      Conserved Domains (2) summary
      TIGR00930
      Location:421085
      2a30; K-Cl cotransporter
      pfam03522
      Location:7061085
      SLC12; Solute carrier family 12
    6. XM_011513940.3XP_011512242.1  solute carrier family 12 member 7 isoform X4

      UniProtKB/TrEMBL
      A0A0G2JNW7
      Conserved Domains (2) summary
      TIGR00930
      Location:311074
      2a30; K-Cl cotransporter
      pfam03522
      Location:6951074
      SLC12; Solute carrier family 12

    RNA

    1. XR_007058571.1 RNA Sequence

    2. XR_007058570.1 RNA Sequence

    3. XR_007058569.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187548.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      68893..173552 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328660.1XP_054184635.1  solute carrier family 12 member 7 isoform X2

      UniProtKB/TrEMBL
      A0A0G2JNW7
    2. XM_054328657.1XP_054184632.1  solute carrier family 12 member 7 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JNW7
    3. XM_054328663.1XP_054184638.1  solute carrier family 12 member 7 isoform X5

      UniProtKB/TrEMBL
      A0A0U1RR18
    4. XM_054328664.1XP_054184639.1  solute carrier family 12 member 7 isoform X5

      UniProtKB/TrEMBL
      A0A0U1RR18
    5. XM_054328659.1XP_054184634.1  solute carrier family 12 member 7 isoform X7

      UniProtKB/TrEMBL
      A0A0G2JNW7
    6. XM_054328661.1XP_054184636.1  solute carrier family 12 member 7 isoform X3

      UniProtKB/TrEMBL
      A0A0G2JNW7
    7. XM_054328662.1XP_054184637.1  solute carrier family 12 member 7 isoform X4

      UniProtKB/TrEMBL
      A0A0G2JNW7
    8. XM_054328658.1XP_054184633.1  solute carrier family 12 member 7 isoform X6

      UniProtKB/TrEMBL
      A0A0G2JNW7

    RNA

    1. XR_008485603.1 RNA Sequence

    2. XR_008485602.1 RNA Sequence

    3. XR_008485601.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      955618..1061601 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351454.1XP_054207429.1  solute carrier family 12 member 7 isoform X11

      UniProtKB/TrEMBL
      A0A0G2JNW7
    2. XM_054351451.1XP_054207426.1  solute carrier family 12 member 7 isoform X8

      UniProtKB/TrEMBL
      A0A0G2JNW7
    3. XM_054351457.1XP_054207432.1  solute carrier family 12 member 7 isoform X14

      UniProtKB/TrEMBL
      A0A0U1RR18
    4. XM_054351453.1XP_054207428.1  solute carrier family 12 member 7 isoform X10

      UniProtKB/TrEMBL
      A0A0G2JNW7
    5. XM_054351455.1XP_054207430.1  solute carrier family 12 member 7 isoform X12

      UniProtKB/TrEMBL
      A0A0G2JNW7
    6. XM_054351456.1XP_054207431.1  solute carrier family 12 member 7 isoform X13

      UniProtKB/TrEMBL
      A0A0G2JNW7
    7. XM_054351452.1XP_054207427.1  solute carrier family 12 member 7 isoform X9

      UniProtKB/TrEMBL
      A0A0G2JNW7

    RNA

    1. XR_008487072.1 RNA Sequence

    2. XR_008487071.1 RNA Sequence

    3. XR_008487070.1 RNA Sequence