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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
  • Alliance
    gene page
  • Transcription Start Sites
    15 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:95055829-95092842 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 46.46 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1218 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108114
 protein coding gene Chr8:95055737-95092850 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033959
 protein coding gene Chr8:95744294-95781353 (+)
A/J MGP_AJ_G0033942
 protein coding gene Chr8:92012983-92050004 (+)
AKR/J MGP_AKRJ_G0033868
 protein coding gene Chr8:94534373-94571430 (+)
BALB/cJ MGP_BALBcJ_G0033934
 protein coding gene Chr8:92107291-92144316 (+)
C3H/HeJ MGP_C3HHeJ_G0033644
 protein coding gene Chr8:95240931-95278321 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034455
 protein coding gene Chr8:99239270-99276289 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031396
 protein coding gene Chr8:85829070-85865965 (+)
CAST/EiJ MGP_CASTEiJ_G0032976
 protein coding gene Chr8:94837915-94874878 (+)
CBA/J MGP_CBAJ_G0033620
 protein coding gene Chr8:102528616-102565637 (+)
DBA/2J MGP_DBA2J_G0033774
 protein coding gene Chr8:91482072-91519097 (+)
FVB/NJ MGP_FVBNJ_G0033721
 protein coding gene Chr8:90449220-90486241 (+)
LP/J MGP_LPJ_G0033866
 protein coding gene Chr8:95894496-95931551 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0033763
 protein coding gene Chr8:104826165-104863218 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034473
 protein coding gene Chr8:94695146-94732201 (+)
PWK/PhJ MGP_PWKPhJ_G0032678
 protein coding gene Chr8:90859325-90896355 (+)
SPRET/EiJ MGP_SPRETEiJ_G0032515
 protein coding gene Chr8:93521494-93559977 (+)
WSB/EiJ MGP_WSBEiJ_G0033088
 protein coding gene Chr8:95215507-95252542 (+)



Homology
more
  • Human Ortholog
    SLC12A3, solute carrier family 12 member 3
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC12A3, solute carrier family 12 member 3
  • Synonyms
    NCC, NCCT, TSC
  • Links
    NCBI Gene ID: 6559
    neXtProt AC: NX_P55017
    UniProt: P55017

  • Chr Location
    16q13; chr16:56865207-56915850 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Slc12a3 mouse models; 2 with human SLC12A3 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
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    15 phenotypes from 3 alleles in 2 genetic backgrounds
    3 phenotypes from multigenic genotypes
    1 images
    37 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
less
  • All GO Annotations
    40
  • GO References
    18
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
    1009
  • Tissues
    149
  • cDNA Data
    13
  • Literature Summary
    59
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000031766 Ensembl Gene Model | MGI Sequence Detail 37014 C57BL/6J ±  kb
    transcript ENSMUST00000034218 Ensembl | MGI Sequence Detail 3299 Not Applicable  
    polypeptide ENSMUSP00000034218 Ensembl | MGI Sequence Detail 1002 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 18
      Primer pair 3
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-37151, MGI:2142458
    References
    more
    • Summaries
      All 158
      Developmental Gene Expression 59
      Diseases 2
      Gene Ontology 18
      Phenotypes 37
    • 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:353090 Mertens RT, et al., A metabolic switch orchestrated by IL-18 and the cyclic dinucleotide cGAMP programs intestinal tolerance. Immunity. 2024 Jun 19;
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory