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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
Location & Maps
more
  • Sequence Map
    Chr2:125152505-125230002 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      77498 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 61.23 cM
  • Mapping Data
    7 experiments
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: HomoloGene, HGNC
  • Synonyms
    BSC1, NKCC2
  • Links
    NCBI Gene ID: 6557
    neXtProt AC: NX_Q13621

  • Chr Location
    15q21.1; chr15:48206301-48304078 (+)  GRCh38.p2

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

Human Disease Mouse Models
       Bartter Syndrome, Type 1, Antenatal; BARTS1   OMIM: 601678 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 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
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.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    2 involving Slc12a1
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000015338 VEGA Gene Model | MGI Sequence Detail 77498 C57BL/6J ±  kb
transcript OTTMUST00000036347 VEGA | MGI Sequence Detail 4740 Not Applicable  
polypeptide OTTMUSP00000016333 VEGA | MGI Sequence Detail 1090 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    397 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • 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
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  • All nucleic 115
    Genomic 2
    cDNA 110
    Primer pair 3

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-24016, MGI:2139049, MGI:2444968, MGI:3712273
References
more
  • Summaries
    All 77
    Developmental Gene Expression 25
    Diseases 3
    Gene Ontology 10
    Phenotypes 14
  • Earliest
    J:19338 Gamba G, et al., Molecular cloning, primary structure, and characterization of two members of the mammalian electroneutral sodium-(potassium)-chloride cotransporter family expressed in kidney. J Biol Chem. 1994 Jul 1;269(26):17713-22
  • Latest
    J:235417 Kim YM, et al., Role of Prox1 in the Transforming Ascending Thin Limb of Henle's Loop during Mouse Kidney Development. PLoS One. 2015;10(5):e0127429

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
11/29/2016
MGI 6.06
The Jackson Laboratory