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MTR (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:5-methyltetrahydrofolate-homocysteine methyltransferase, ENTREZ:4548, HGNC:7468, HMAG, MIM:156570, MS, MTR, NM_000254, NM_001291939, NM_001291940, NP_000245, NP_001278868, NP_001278869, XM_005273141, XM_006711770, XM_011544194, XM_017001329, XM_017001330, XP_005273198, XP_006711833, XP_011542496, XP_016856818, XP_016856819, cblG
Omim:OMIM:156570
Id:ee30ad38-4be0-5b5f-97ba-81dc929c5c34
Hgnc:HGNC:7468
Entrez:4548
Ensembl:ENSG00000116984
Description:5-methyltetrahydrofolate-homocysteine methyltransferase
This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

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

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 MTR.

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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 MTR.

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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 MTR.

Results found

Linked to

 

Label

Description

 

Phenotype

Hypospadias

Phenotype (Entity type)

Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displa...

Gene Set

GSE102505 5 V 0 TUNICAMYCIN 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

GSE95077 1 V 2 AMILORIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE145195 PPP2R3B overexpression 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE77108 saha 0 v 9 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE108464 AZ-628 1 v 15 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE162892 ISOX 3 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE203362 0 V 1 ENZALUTAMIDE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE212330 azacitidine 1 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Phenotype

    Hypospadias

    Phenotype (Entity type)

    Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displa...

  • Gene Set

    GSE102505 5 V 0 TUNICAMYCIN 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

    GSE95077 1 V 2 AMILORIDE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE145195 PPP2R3B overexpression 0 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE77108 saha 0 v 9 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE108464 AZ-628 1 v 15 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE162892 ISOX 3 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE203362 0 V 1 ENZALUTAMIDE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE212330 azacitidine 1 v 0 human dn

    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.