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SLC12A2 solute carrier family 12 member 2 [ Homo sapiens (human) ]

Gene ID: 6558, updated on 12-Sep-2021

Summary

Official Symbol
SLC12A2provided by HGNC
Official Full Name
solute carrier family 12 member 2provided by HGNC
Primary source
HGNC:HGNC:10911
See related
Ensembl:ENSG00000064651 MIM:600840
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
BSC; BSC2; KILQS; NKCC1; PPP1R141
Summary
The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Expression
Broad expression in colon (RPKM 25.6), stomach (RPKM 18.8) and 22 other tissues See more
Orthologs
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Genomic context

See SLC12A2 in Genome Data Viewer
Location:
5q23.3
Exon count:
29
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (128083766..128189677)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (127419458..127525369)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 192 Neighboring gene cullin 1 pseudogene 1 Neighboring gene SLC12A2 divergent transcript Neighboring gene uncharacterized LOC101929964 Neighboring gene POGLUT2 pseudogene 1 Neighboring gene fibrillin 2 Neighboring gene uncharacterized LOC105379167

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

Associated conditions

Description Tests
A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.
GeneReviews: Not available
A pilot genome-wide association study shows genomic variants enriched in the non-tumor cells of patients with well-differentiated neuroendocrine tumors of the ileum.
GeneReviews: Not available
Deafness, autosomal dominant 78
MedGen: C5436768 OMIM: 619081 GeneReviews: Not available
Compare labs
Delpire-McNeill syndrome
MedGen: C5436771 OMIM: 619083 GeneReviews: Not available
Compare labs
Kilquist syndrome
MedGen: C5436756 OMIM: 619080 GeneReviews: Not available
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104233

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Hsp90 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ammonium transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ammonium transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables cation:chloride symporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables chaperone binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables metal ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables potassium ion transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables potassium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables sodium:potassium:chloride symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables sodium:potassium:chloride symporter activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in T cell chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in aging IEA
Inferred from Electronic Annotation
more info
 
involved_in ammonium transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in ammonium transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ammonium transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell volume homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within cell volume homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell volume homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of cell volume homeostasis TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within cellular chloride ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within cellular chloride ion homeostasis TAS
Traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within cellular potassium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to chemokine IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to potassium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within cellular sodium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in chloride ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chloride transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in chloride transmembrane transport NAS
Non-traceable Author Statement
more info
PubMed 
acts_upstream_of_or_within gamma-aminobutyric acid signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in hyperosmotic response IEA
Inferred from Electronic Annotation
more info
 
involved_in inorganic anion import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inorganic cation import across plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ion transport TAS
Traceable Author Statement
more info
 
acts_upstream_of_or_within maintenance of blood-brain barrier ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of maintenance of blood-brain barrier TAS
Traceable Author Statement
more info
PubMed 
involved_in metal ion transport IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of vascular wound healing ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within positive regulation of aspartate secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell volume IEA
Inferred from Electronic Annotation
more info
 
involved_in potassium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion import across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in potassium ion import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within regulation of matrix metallopeptidase secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within regulation of spontaneous synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in sodium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sodium ion import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sodium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in transepithelial ammonium transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in transepithelial chloride transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in basal plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cell body ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell body membrane TAS
Traceable Author Statement
more info
PubMed 
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
PubMed 
located_in cell projection ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cell projection membrane TAS
Traceable Author Statement
more info
PubMed 
located_in cytoplasmic vesicle membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular vesicle HDA PubMed 
located_in integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
located_in lateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane TAS
Traceable Author Statement
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
 
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in spanning component of membrane RCA
inferred from Reviewed Computational Analysis
more info
PubMed 

General protein information

Preferred Names
solute carrier family 12 member 2
Names
basolateral Na-K-Cl symporter
bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1
bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2
protein phosphatase 1, regulatory subunit 141
solute carrier family 12 (sodium/potassium/chloride transporter), member 2
solute carrier family 12 (sodium/potassium/chloride transporters), member 2

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_042286.1 RefSeqGene

    Range
    4976..110887
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001046.3NP_001037.1  solute carrier family 12 member 2 isoform 1

    See identical proteins and their annotated locations for NP_001037.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AA425438, AA425619, AA843086, AC011332, AK025062, AV708692, AY280459, BC033003, BM978607, U30246
    Consensus CDS
    CCDS4144.1
    UniProtKB/Swiss-Prot
    P55011
    UniProtKB/TrEMBL
    Q53ZR1
    Related
    ENSP00000262461.2, ENST00000262461.7
    Conserved Domains (1) summary
    TIGR00930
    Location:2161212
    2a30; K-Cl cotransporter
  2. NM_001256461.2NP_001243390.1  solute carrier family 12 member 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC008577, AC011332, AI493213, AY280459, BC144221
    Consensus CDS
    CCDS58965.1
    UniProtKB/TrEMBL
    B7ZM24, Q53ZR1
    Related
    ENSP00000340878.4, ENST00000343225.4
    Conserved Domains (3) summary
    TIGR00930
    Location:2161196
    2a30; K-Cl cotransporter
    pfam03522
    Location:8011196
    SLC12; Solute carrier family 12
    pfam08403
    Location:202263
    AA_permease_N; Amino acid permease N-terminal

RNA

  1. NR_046207.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction in the 3' end that truncates the coding sequence compared to variant 1. The resulting transcript is a candidate for nonsense-mediated mRNA decay (NMD) and is therefore thought not to be proten-coding.
    Source sequence(s)
    AC008577, AC011332, AI493213, AY280459, BC033003

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    128083766..128189677
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543588.2XP_011541890.1  solute carrier family 12 member 2 isoform X1

    Conserved Domains (1) summary
    pfam08403
    Location:202263
    AA_permease_N; Amino acid permease N-terminal
  2. XM_017009771.1XP_016865260.1  solute carrier family 12 member 2 isoform X2

RNA

  1. XR_001742214.1 RNA Sequence

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