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CFDE Workbench

SLC12A3 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ENTREZ:6559, HGNC:10912, MIM:600968, NCC, NCCT, NM_000339, NM_001126107, NM_001126108, NP_000330, NP_001119579, NP_001119580, SLC12A3, TSC, XM_005256119, XP_005256176, solute carrier family 12 member 3
Omim:OMIM:600968
Id:ENSG00000070915
Hgnc:HGNC:10912
Entrez:6559
Ensembl:ENSG00000070915
Description:solute carrier family 12 member 3
This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome, a disease similar to Bartter's syndrome, that is characterized by hypokalemic alkalosis combined with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. This cotransporter is the target for thiazide diuretics that are used for treating high blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View SLC12A3's neighborhood in the knowledge graph.

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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 SLC12A3.

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 SLC12A3.

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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 SLC12A3.

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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 SLC12A3.

Results found

Linked to

 

Label

Description

 

Phenotype

Ataxia

Phenotype (Entity type)

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

Gene Set

GSE110709 GSK-J4 5 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE202434 GSE202438 talazoparib 10 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE143944 1 V 0 RIBOCICLIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE238116 EGR1 HCC overexpression MHCC97-H PLC-PRF-5 3 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE223893 SETD2 PARP inhibition kidney 4 v 10 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE203329 HCC knockout 2 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE129698 SYK inhibition 6 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE135030 3 V 10 FLUDARABINE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE168473 isoniazid 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Phenotype

    Ataxia

    Phenotype (Entity type)

    Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

  • Gene Set

    GSE110709 GSK-J4 5 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE202434 GSE202438 talazoparib 10 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE143944 1 V 0 RIBOCICLIB HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE238116 EGR1 HCC overexpression MHCC97-H PLC-PRF-5 3 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE223893 SETD2 PARP inhibition kidney 4 v 10 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE203329 HCC knockout 2 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE129698 SYK inhibition 6 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE135030 3 V 10 FLUDARABINE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE168473 isoniazid 0 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

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    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.