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Slc12a3 Gene Detail
Summary
  • Symbol
    Slc12a3
  • Name
    solute carrier family 12, member 3
  • Synonyms
    NCC, TSC
  • Feature Type
    protein coding gene
  • IDs
    MGI:108114
    NCBI Gene: 20497
  • Gene Overview
    MyGene.info: SLC12A3
Location & Maps
more
  • Sequence Map
    Chr8:94329192-94366213 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      37022 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 46.46 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SLC12A3, solute carrier family 12 member 3
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC12A3, solute carrier family 12 member 3
    Orthology source: HomoloGene, HGNC
  • Synonyms
    NCC, NCCT, TSC
  • Links
    NCBI Gene ID: 6559
    neXtProt AC: NX_P55017

  • Chr Location
    16q13; chr16:56865207-56915850 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Slc12a3 mouse models; 1 with human SLC12A3 associations

Human Disease Mouse Models
       Gitelman Syndrome; GTLMNS   OMIM: 263800 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 2 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    19 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 a knock-out allele exhibit hypomagnesemia, hypocalciurua and abnormal renal distal convoluted tubule morphology, and show significantly reduced arterial blood pressure on a sodium-depleted diet. Mutant kidney cortical collecting ductsdisplay thiazide-sensitive NaCl absorption.
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 ENSMUSG00000031766 Ensembl Gene Model | MGI Sequence Detail 37022 C57BL/6J ±  kb
transcript ENSMUST00000034218 Ensembl | MGI Sequence Detail 3307 Not Applicable  
polypeptide ENSMUSP00000034218 Ensembl | MGI Sequence Detail 1002 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    239 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000014926 solute carrier family 12 member 3
  • InterPro Domains
    IPR013612 Amino acid permease, N-terminal
    IPR004841 Amino acid permease/ SLC12A domain
    IPR018491 SLC12A transporter, C-terminal
    IPR004842 SLC12A transporter family
    IPR002948 Thiazide-sensitive Na-K-Cl co-transporter
Molecular
Reagents
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  • All nucleic 18
    cDNA 16
    Primer pair 1
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-37151, MGI:2142458
References
more
  • Summaries
    All 85
    Developmental Gene Expression 26
    Diseases 2
    Gene Ontology 9
    Phenotypes 19
  • 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:232342 Stewart K, et al., A Point Mutation in p190A RhoGAP Affects Ciliogenesis and Leads to Glomerulocystic Kidney Defects. PLoS Genet. 2016 Feb;12(2):e1005785

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory