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Slc12a1 Gene Detail
Summary
  • Symbol
    Slc12a1
  • Name
    solute carrier family 12, member 1
  • Synonyms
    D630042G03Rik, mBSC1, Nkcc2, urehr3
  • Feature Type
    protein coding gene
  • IDs
    MGI:103150
    NCBI Gene: 20495
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:125152600-125230002 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 61.23 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    396 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103150
protein coding gene Chr2:125152505-125230002 (.)
129S1/SvImJ MGP_129S1SvImJ_G0026426
protein coding gene Chr2:128316574-128400680 (+)
A/J MGP_AJ_G0026389
protein coding gene Chr2:123104404-123183012 (+)
AKR/J MGP_AKRJ_G0026365
protein coding gene Chr2:126617329-126696849 (+)
BALB/cJ MGP_BALBcJ_G0026401
protein coding gene Chr2:123390947-123472553 (+)
C3H/HeJ MGP_C3HHeJ_G0026145
protein coding gene Chr2:127110895-127188571 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026847
protein coding gene Chr2:132427097-132508397 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024224
protein coding gene Chr2:117887082-117965527 (+)
CAST/EiJ MGP_CASTEiJ_G0025606
protein coding gene Chr2:127346076-127433960 (+)
CBA/J MGP_CBAJ_G0026125
protein coding gene Chr2:137235208-137317074 (+)
DBA/2J MGP_DBA2J_G0026259
protein coding gene Chr2:122515681-122593749 (+)
FVB/NJ MGP_FVBNJ_G0026223
protein coding gene Chr2:121203525-121280829 (+)
LP/J MGP_LPJ_G0026364
protein coding gene Chr2:128558219-128639605 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026243
protein coding gene Chr2:141375207-141455640 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026902
protein coding gene Chr2:126649276-126732012 (+)
PWK/PhJ MGP_PWKPhJ_G0025342
protein coding gene Chr2:122054767-122133106 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025144
protein coding gene Chr2:125730244-125813339 (+)
WSB/EiJ MGP_WSBEiJ_G0025680
protein coding gene Chr2:127555547-127636279 (+)



Homology
more
  • Human Ortholog
    SLC12A1, solute carrier family 12 member 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SLC12A1, solute carrier family 12 member 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BSC1, NKCC2
  • Links
    NCBI Gene ID: 6557
    neXtProt AC: NX_Q13621
    UniProt: Q13621

  • Chr Location
    15q21.1; chr15:48206301-48304078 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Slc12a1 mouse models; 1 with human SLC12A1 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    61 phenotypes from 4 alleles in 5 genetic backgrounds
    14 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.
Mice homozygous for disruptions in this gene do not survive to weaning and suffer from various metabolic abnormalities related to kidney function. Mice homozygous for an ENU-induced allele exhibit kidney disease, impaired urinary excretion of metabolism products, polyuria, and kidney alterations.
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 population 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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20495 NCBI Gene Model | MGI Sequence Detail 77403 C57BL/6J ±  kb
    transcript NM_183354 RefSeq | MGI Sequence Detail 4660 C57BL/6  
    polypeptide P55014 UniProt | EBI | MGI Sequence Detail 1095 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • InterPro Domains
      IPR013612 Amino acid permease, N-terminal
      IPR004841 Amino acid permease/ SLC12A domain
      IPR002443 Na/K/Cl co-transporter
      IPR018491 SLC12A transporter, C-terminal
      IPR004842 SLC12A transporter family
      IPR002445 Solute carrier family 12 member 1
    Molecular
    Reagents
    less
    • All nucleic 116
      Genomic 2
      cDNA 111
      Primer pair 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-24016, MGI:2139049, MGI:2444968, MGI:3712273
    References
    more
    • Summaries
      All 102
      Developmental Gene Expression 33
      Diseases 2
      Gene Ontology 12
      Phenotypes 14
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:266356 Marable SS, et al., Hnf4a deletion in the mouse kidney phenocopies Fanconi renotubular syndrome. JCI Insight. 2018 Jul 25;3(14)

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory