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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
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:124994430-125071922 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 61.23 cM
  • Mapping Data
    7 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2265 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    2
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_103150
 protein coding gene Chr2:124994425-125071922 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC12A1, solute carrier family 12 member 1
  • Synonyms
    BSC, BSC-1, BSC1, CCC2, NKCC2
  • Links
    NCBI Gene ID: 6557
    neXtProt AC: NX_Q13621
    UniProt: Q13621

  • Chr Location
    15q21.1; chr15:48178438-48304078 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Slc12a1 mouse models; 2 with human SLC12A1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
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
less
  • Phenotype Summary
    62 phenotypes from 4 alleles in 5 genetic backgrounds
    18 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.
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
less
  • All GO Annotations
    38
  • GO References
    14
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
membraneless 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
    1031
  • Tissues
    233
  • cDNA Data
    116
  • Literature Summary
    55
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20495 NCBI Gene Model | MGI Sequence Detail 77493 C57BL/6J ±  kb
    transcript NM_183354 RefSeq | MGI Sequence Detail 4645 C57BL/6  
    polypeptide P55014 UniProt | EBI | MGI Sequence Detail 1095 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 123
      Genomic 2
      cDNA 116
      Primer pair 5

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-24016, MGI:2139049, MGI:2444968, MGI:3712273
    References
    more
    • Summaries
      All 132
      Developmental Gene Expression 55
      Diseases 2
      Gene Ontology 14
      Phenotypes 18
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:353306 Ma YS, et al., Identification of countercurrent tubule-vessel arrangements in the early development of mouse kidney based on immunohistochemistry and computer-assisted 3D visualization. PLoS One. 2024;19(8):e0307223
    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
    11/19/2024
    MGI 6.24     		The Jackson Laboratory