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CFDE Workbench

BEST1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ARB, BEST, BEST1, BMD, Best1V1Delta2, ENTREZ:7439, HGNC:12703, MIM:607854, NM_001139443, NM_001300786, NM_001300787, NM_001363591, NM_001363592, NM_001363593, NM_004183, NP_001132915, NP_001287715, NP_001287716, NP_001350520, NP_001350521, NP_001350522, NP_004174, NR_134580, RP50, TU15B, VMD2, XM_005274210, XM_005274215, XM_005274216, XM_005274219, XM_005274221, XM_011545229, XM_011545230, XM_011545233, XM_017018230, XP_005274267, XP_005274272, XP_005274273, XP_005274276, XP_005274278, XP_011543531, XP_011543532, XP_011543535, XP_016873719, XR_001747952, XR_001747953, XR_001747954, bestrophin 1
Omim:OMIM:607854
Id:bd28ecc3-9a38-5dac-8445-ece50b6b0598
Hgnc:HGNC:12703
Entrez:7439
Ensembl:ENSG00000167995
Description:bestrophin 1
This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View BEST1'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 BEST1.

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 BEST1.

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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 BEST1.

Submit
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 BEST1.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE265788 IDH1 inhibition RNA-Directed DNA Polymerase 3 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE242555 1 V 0 NICOTINAMIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE205729,GSE205731 2 V 3 TAZEMETOSTAT HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE216043 10 V 5 CISPLATIN HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE261563 CX-5461 6 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE187006 3 V 2 VALPROIC ACID HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE165334 2 V 0 DABRAFENIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE111247 temozolomide LN-308 0 v 8 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE220097 4 V 1 ENZALUTAMIDE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE195663 cisplatin 7 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE265788 IDH1 inhibition RNA-Directed DNA Polymerase 3 v 2 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE242555 1 V 0 NICOTINAMIDE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE205729,GSE205731 2 V 3 TAZEMETOSTAT HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE216043 10 V 5 CISPLATIN HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE261563 CX-5461 6 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE187006 3 V 2 VALPROIC ACID HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE165334 2 V 0 DABRAFENIB HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE111247 temozolomide LN-308 0 v 8 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE220097 4 V 1 ENZALUTAMIDE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE195663 cisplatin 7 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

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    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.
    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.