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Gene: SLC12A1 (solute carrier family 12 member 1) Homo sapiens
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Symbol: SLC12A1
Name: solute carrier family 12 member 1
Description: Predicted to have sodium:potassium:chloride symporter activity. Predicted to be involved in cell volume homeostasis; inorganic ion homeostasis; and inorganic ion transmembrane transport. Localizes to extracellular exosome. Implicated in Bartter disease and Bartter disease type 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BSC1; bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2; kidney-specific Na-K-Cl symporter; MGC48843; Na-K-2Cl cotransporter; NKCC2; NKCC2A variant A; solute carrier family 12 (sodium/potassium/chloride transporter), member 1; solute carrier family 12 (sodium/potassium/chloride transporters), member 1; solute carrier family 12, member 1
Orthologs:
Mus musculus (house mouse) : Slc12a1 (solute carrier family 12, member 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Slc12a1 (solute carrier family 12 member 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Slc12a1 (solute carrier family 12 member 1)
Pan paniscus (bonobo/pygmy chimpanzee) : SLC12A1 (solute carrier family 12 member 1)
Canis lupus familiaris (dog) : SLC12A1 (solute carrier family 12 member 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Slc12a1 (solute carrier family 12 member 1)
Sus scrofa (pig) : SLC12A1 (solute carrier family 12 member 1)
Chlorocebus sabaeus (African green monkey) : SLC12A1 (solute carrier family 12 member 1)
Heterocephalus glaber (naked mole-rat) : Slc12a1 (solute carrier family 12 member 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1548,178,438 - 48,304,078 (+)EnsemblGRCh38hg38GRCh38
GRCh381548,206,302 - 48,304,078 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371548,498,498 - 48,596,275 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361546,285,790 - 46,383,567 (+)NCBINCBI36hg18NCBI36
Build 341546,287,189 - 46,382,417NCBI
Celera1525,391,005 - 25,488,781 (+)NCBI
Cytogenetic Map15q21.1NCBI
HuRef1525,331,539 - 25,429,297 (+)NCBIHuRef
CHM1_11548,616,680 - 48,714,374 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on SLC12A1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 731943
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2020-05-26
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.