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COL6A2 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:BTHLM1, COL6A2, ENTREZ:1292, HGNC:2212, MIM:120240, NM_001849, NM_058174, NM_058175, NP_001840, NP_478054, NP_478055, PP3610, UCMD1, XM_011529451, XP_011527753, XR_937438, XR_937439, collagen type VI alpha 2 chain
Omim:OMIM:120240
Id:ENSG00000142173
Hgnc:HGNC:2212
Entrez:1292
Ensembl:ENSG00000142173
Description:collagen type VI alpha 2 chain
This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View COL6A2'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 COL6A2.

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 COL6A2.

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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 COL6A2.

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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 COL6A2.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE233679 14 V 13 NICOTINAMIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE216273,GSE216292 14 V 6 PALBOCICLIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE150244 TRIM8 knockout 3 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE233679 12 V 0 NICOTINAMIDE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE213588 trametinib NF1 8 v 11 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE197555 0 V 3 TRAMETINIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE226249 pirfenidone HL 0 v 7 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE120370 0 V 6 THROMBIN MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE152441,GSE152442 6 V 4 FOLIC ACID HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE233679 14 V 13 NICOTINAMIDE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE216273,GSE216292 14 V 6 PALBOCICLIB HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE150244 TRIM8 knockout 3 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE233679 12 V 0 NICOTINAMIDE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE213588 trametinib NF1 8 v 11 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE197555 0 V 3 TRAMETINIB HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE226249 pirfenidone HL 0 v 7 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE120370 0 V 6 THROMBIN MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE152441,GSE152442 6 V 4 FOLIC ACID HUMAN 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.