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SLC12A5 solute carrier family 12 member 5 [ Homo sapiens (human) ]

Gene ID: 57468, updated on 27-Nov-2024

Summary

Official Symbol
SLC12A5provided by HGNC
Official Full Name
solute carrier family 12 member 5provided by HGNC
Primary source
HGNC:HGNC:13818
See related
Ensembl:ENSG00000124140 MIM:606726; AllianceGenome:HGNC:13818
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
KCC2; DEE34; EIG14; hKCC2; EIEE34
Summary
K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The protein encoded by this gene is an integral membrane K-Cl cotransporter that can function in either a net efflux or influx pathway, depending on the chemical concentration gradients of potassium and chloride. The encoded protein can act as a homomultimer, or as a heteromultimer with other K-Cl cotransporters, to maintain chloride homeostasis in neurons. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Sep 2008]
Expression
Restricted expression toward brain (RPKM 26.0) See more
Orthologs
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Genomic context

See SLC12A5 in Genome Data Viewer
Location:
20q13.12
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (46021686..46060150)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (47757715..47796165)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44650325..44688789)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44603922-44604458 Neighboring gene ferritin light chain pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44624055-44624562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:44632651-44633302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44633303-44633954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:44640983-44641493 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12969 Neighboring gene SLC12A5 and MMP9 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12971 Neighboring gene matrix metallopeptidase 9 Neighboring gene Sharpr-MPRA regulatory region 13245 Neighboring gene Sharpr-MPRA regulatory region 3425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17957 Neighboring gene nuclear receptor coactivator 5 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:44717073-44717887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:44717888-44718701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17960 Neighboring gene ribosomal protein L13 pseudogene 2

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • KIAA1176

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ammonium channel activity IEA
Inferred from Electronic Annotation
more info
 
enables chloride transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables potassium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables potassium:chloride symporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables potassium:chloride symporter activity TAS
Traceable Author Statement
more info
 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in ammonium transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in cell volume homeostasis IBA
Inferred from Biological aspect of Ancestor
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 dendritic spine development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in hypotonic response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intracellular chloride ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in intracellular pH reduction IEA
Inferred from Electronic Annotation
more info
 
involved_in learning IEA
Inferred from Electronic Annotation
more info
 
involved_in monoatomic ion transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in monoatomic ion transport TAS
Traceable Author Statement
more info
 
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
involved_in postsynaptic neurotransmitter receptor diffusion trapping IEA
Inferred from Electronic Annotation
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 regulation of postsynapse assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in thermosensory behavior IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell periphery IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell periphery ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in dendrite membrane IEA
Inferred from Electronic Annotation
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuron projection IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
solute carrier family 12 member 5
Names
K-Cl cotransporter 2
electroneutral potassium-chloride cotransporter 2
erythroid K-Cl cotransporter 2
neuronal K-Cl cotransporter
solute carrier family 12 (potassium/chloride transporter), member 5

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.

Genomic

  1. NG_046341.2 RefSeqGene

    Range
    12531..43466
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134771.2NP_001128243.1  solute carrier family 12 member 5 isoform 1

    See identical proteins and their annotated locations for NP_001128243.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1, also known as KCC2a).
    Source sequence(s)
    AL162458
    Consensus CDS
    CCDS46610.1
    UniProtKB/Swiss-Prot
    A2RTX2, Q5VZ41, Q9H2X9, Q9H4Z0, Q9ULP4
    UniProtKB/TrEMBL
    A8K143
    Related
    ENSP00000387694.1, ENST00000454036.6
    Conserved Domains (1) summary
    TIGR00930
    Location:441139
    2a30; K-Cl cotransporter
  2. NM_020708.5NP_065759.1  solute carrier family 12 member 5 isoform 2

    See identical proteins and their annotated locations for NP_065759.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, compared to variant 1. The resulting isoform (2, also known as KCC2b) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AL162458
    Consensus CDS
    CCDS13391.1
    UniProtKB/TrEMBL
    A8K143
    Related
    ENSP00000243964.4, ENST00000243964.7
    Conserved Domains (1) summary
    TIGR00930
    Location:211116
    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    46021686..46060150
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    47757715..47796165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)