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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
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:58011750-58079893 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 32.15 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1700 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_101924
 protein coding gene Chr18:58011505-58079893 (+)
129S1/SvImJ MGP_129S1SvImJ_G0024451
 protein coding gene Chr18:57342954-57425806 (+)
A/J MGP_AJ_G0024417
 protein coding gene Chr18:55064299-55132327 (+)
AKR/J MGP_AKRJ_G0024387
 protein coding gene Chr18:56598466-56665806 (+)
BALB/cJ MGP_BALBcJ_G0024417
 protein coding gene Chr18:55232310-55300784 (+)
C3H/HeJ MGP_C3HHeJ_G0024184
 protein coding gene Chr18:56777796-56846741 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024863
 protein coding gene Chr18:59164064-59237020 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0022295
 protein coding gene Chr18:54652915-54720476 (+)
CAST/EiJ MGP_CASTEiJ_G0023658
 protein coding gene Chr18:56816404-56886706 (+)
CBA/J MGP_CBAJ_G0024154
 protein coding gene Chr18:61028108-61102644 (+)
DBA/2J MGP_DBA2J_G0024284
 protein coding gene Chr18:54751213-54820702 (+)
FVB/NJ MGP_FVBNJ_G0024251
 protein coding gene Chr18:54139369-54207836 (+)
LP/J MGP_LPJ_G0024369
 protein coding gene Chr18:57294852-57364345 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0024281
 protein coding gene Chr18:62614725-62684605 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024910
 protein coding gene Chr18:56701086-56774021 (+)
PWK/PhJ MGP_PWKPhJ_G0023402
 protein coding gene Chr18:54785924-54853595 (+)
SPRET/EiJ MGP_SPRETEiJ_G0023208
 protein coding gene Chr18:56788494-56854974 (+)
WSB/EiJ MGP_WSBEiJ_G0023721
 protein coding gene Chr18:56613234-56682437 (+)



Homology
more
  • Human Ortholog
    SLC12A2, solute carrier family 12 member 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC12A2, solute carrier family 12 member 2
  • Synonyms
    BSC, BSC-2, BSC2, CCC1, hNKCC1, KILQS, NKCC1, PPP1R141
  • Links
    NCBI Gene ID: 6558
    neXtProt AC: NX_P55011
    UniProt: P55011

  • Chr Location
    5q23.3; chr5:128083766-128189677 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SLC12A2 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    89 phenotypes from 9 alleles in 13 genetic backgrounds
    4 phenotypes from multigenic genotypes
    6 images
    85 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    73
  • GO References
    16
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    985
  • Tissues
    129
  • cDNA Data
    221
  • Literature Summary
    41
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 232
      Genomic 1
      cDNA 222
      Primer pair 6
      Other 3

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGD-MRK-18753
    References
    more
    • Summaries
      All 187
      Developmental Gene Expression 41
      Diseases 1
      Gene Ontology 16
      Phenotypes 85
    • Earliest
      J:208 Hertwig P, Neue Mutationen und Koppelungsgruppen bei der Hausmaus. Z Indukt Abstamm Vererbungsl. 1942;80(1):220-246
    • Latest
      J:353356 da Cunha Menezes E, et al., Effects of gestational hypothyroidism on mouse brain development: Gabaergic systems and oxidative stress. Dev Biol. 2024 Nov;515:112-120
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory