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

Gene ID: 57468, updated on 26-Apr-2020

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
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; 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

Genomic context

See SLC12A5 in Genome Data Viewer
Location:
20q13.12
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (46021686..46060150)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (44650329..44688789)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ferritin light chain pseudogene 1 Neighboring gene SLC12A5 and MMP9 antisense RNA 1 Neighboring gene matrix metallopeptidase 9 Neighboring gene uncharacterized LOC105372632 Neighboring gene Sharpr-MPRA regulatory region 13245 Neighboring gene Sharpr-MPRA regulatory region 3425 Neighboring gene nuclear receptor coactivator 5 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1176

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chloride transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
potassium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium:chloride symporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cell volume homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular chloride ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cellular ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine development IDA
Inferred from Direct Assay
more info
PubMed 
hypotonic response IDA
Inferred from Direct Assay
more info
PubMed 
ion transport IDA
Inferred from Direct Assay
more info
PubMed 
ion transport TAS
Traceable Author Statement
more info
 
learning IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
thermosensory behavior IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cell periphery IDA
Inferred from Direct Assay
more info
PubMed 
cell periphery ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
neuron projection IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
neuronal cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
synapse 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)

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_046341.1 RefSeqGene

    Range
    5001..43461
    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
    Q9H2X9
    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/Swiss-Prot
    Q9H2X9
    Related
    ENSP00000243964.3, ENST00000243964.6
    Conserved Domains (1) summary
    TIGR00930
    Location:211116
    2a30; K-Cl cotransporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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