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Slc12a2 Gene Detail
Summary
  • Symbol
    Slc12a2
  • Name
    solute carrier family 12, member 2
  • Synonyms
    mBSC2, Nkcc1, sodium/potassium/chloride cotransporters, sy-ns
  • Feature Type
    protein coding gene
  • IDs
    MGI:101924
    NCBI Gene: 20496
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr18:57878678-57946821 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      68144 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 32.15 cM
  • Mapping Data
    8 experiments
Homology
more
  • Human Ortholog
    SLC12A2, solute carrier family 12 member 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC12A2, solute carrier family 12 member 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BSC, BSC2, NKCC1, PPP1R141
  • Links
    NCBI Gene ID: 6558
    neXtProt AC: NX_P55011
    UniProt: P55011

  • Chr Location
    5q23.3; chr5:128083791-128189688 (+)  GRCh38.p7

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    73 phenotypes from 9 alleles in 11 genetic backgrounds
    4 phenotypes from multigenic genotypes
    6 images
    58 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutants show variably severe deafness, head-shaking, circling, reduced endolymph secretion, male sterility, growth retardation, hypotension, reduced salivation, delayed ductal outgrowth of mammary epithelium and increased periweaning mortality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024597 Ensembl Gene Model | MGI Sequence Detail 68144 C57BL/6J ±  kb
    transcript ENSMUST00000115366 Ensembl | MGI Sequence Detail 6520 Not Applicable  
    polypeptide ENSMUSP00000111023 Ensembl | MGI Sequence Detail 1206 Not Applicable  
    For the selected sequence
    Polymorphisms
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    • SNPs within 2kb
      450 from dbSNP Build 142
    • PCR
    Protein
    Information
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    Molecular
    Reagents
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    • All nucleic 227
      Genomic 1
      cDNA 221
      Primer pair 4
      Other 1

      Microarray probesets 2
    Other
    Accession IDs
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    MGD-MRK-18753
    References
    more
    • Summaries
      All 134
      Developmental Gene Expression 22
      Diseases 1
      Gene Ontology 13
      Phenotypes 58
    • Earliest
      J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80:220-246
    • Latest
      J:264250 Koumangoye R, et al., Mistargeting of a truncated Na-K-2Cl cotransporter in epithelial cells. Am J Physiol Cell Physiol. 2018 Aug 1;315(2):C258-C276

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/18/2018
    MGI 6.12
    The Jackson Laboratory