|  Help  |  About  |  Contact Us

Protein Coding Gene : Slc12a1 solute carrier family 12, member 1

Primary Identifier  MGI:103150 Organism  Mus musculus
Chromosome  2 NCBI Gene Number  20495
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 3.2)

Exhibits sodium:potassium:chloride symporter activity. Involved in several processes, including cellular hyperosmotic salinity response; excretion; and positive regulation of calcineurin-NFAT signaling cascade. Localizes to apical plasma membrane. Is expressed in several structures, including alimentary system and urinary system. Used to study Bartter disease type 1. Human ortholog(s) of this gene implicated in Bartter disease and Bartter disease type 1. Orthologous to human SLC12A1 (solute carrier family 12 member 1).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • MGI:2444968,
  • MGI:3712273,
  • Nkcc2,
  • D630042G03Rik,
  • Slc12a1,
  • mBSC1,
  • MGI:2139049,
  • AI788571,
  • expressed sequence AI788571,
  • urehr3,
  • solute carrier family 12, member 1,
  • RIKEN cDNA D630042G03 gene,
  • MGD-MRK-24016,
  • urea phenotype 3

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

4 Pathways

353 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Mouse features --> Alleles

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications