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CFDE Workbench

SLC12A1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:BSC1, ENTREZ:6557, HGNC:10910, MIM:600839, NKCC2, NM_000338, NM_001184832, NM_001384136, NP_000329, NP_001171761, NP_001371065, SLC12A1, solute carrier family 12 member 1
Omim:OMIM:600839
Id:ENSG00000074803
Hgnc:HGNC:10910
Entrez:6557
Ensembl:ENSG00000074803
Description:solute carrier family 12 member 1
This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View SLC12A1's neighborhood in the knowledge graph.

Submit
Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with SLC12A1.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using SLC12A1.

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Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for SLC12A1.

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Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with SLC12A1.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE180321 imperatorin 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE149632 dopamine 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE149632 dopamine 0 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE157594 0 V 7 NICOTINAMIDE MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE146072 0 V 1 CISPLATIN MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE213410 calcitriol 2 v 3 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE144843 GSE144844 SMARCA2 SMARCA4 knockdown 5 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE234514 GSE234516 palbociclib 2 v 3 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE180321 0 V 1 IMPERATORIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE157594 6 V 4 NICOTINAMIDE MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE180321 imperatorin 0 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE149632 dopamine 0 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE149632 dopamine 0 v 2 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE157594 0 V 7 NICOTINAMIDE MOUSE DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE146072 0 V 1 CISPLATIN MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE213410 calcitriol 2 v 3 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE144843 GSE144844 SMARCA2 SMARCA4 knockdown 5 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE234514 GSE234516 palbociclib 2 v 3 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE180321 0 V 1 IMPERATORIN HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE157594 6 V 4 NICOTINAMIDE MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

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    Consortium
    About the CFDECF ProgramsCFDE CentersPartnershipsPilot Projects
    Community
    Workbench TutorialTraining & OutreachDocumentationGet QR CodesFunding Opportunities
    Resources
    Data & MetadataToolsChatbotUse CasesPublications
    CFDE Workbench
    Report a bug
    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    @CFDE Workbench 2026
    This repository is under review for potential modification in compliance with Administration directives.