PMM2 (Gene)

Organism:

Homo sapiens

Synonyms:CDG1, CDG1a, CDGS, ENTREZ:5373, HGNC:9115, MIM:601785, NM_000303, NP_000294, PMI, PMI1, PMM 2, PMM2, XM_005255374, XP_005255431, phosphomannomutase 2

Omim:OMIM:601785

Id:ENSG00000140650

Hgnc:HGNC:9115

Entrez:5373

Ensembl:ENSG00000140650

Description:phosphomannomutase 2

The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View PMM2's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with PMM2.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using PMM2.

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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 PMM2.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with PMM2.

Results found

Linked to

	Label	Description
	GSE225869 1 V 0 TEMOZOLOMIDE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE265788 IDH1 inhibition RNA-Directed DNA Polymerase 3 v 2 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE218773 ABL2 knockdown Hep-G2 2 v 0 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE229973 3 V 2 CISPLATIN HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE226285 3 V 0 GLUTATHIONE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE102467 3 V 2 PAZOPANIB HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE48812 sulforaphane 4 v 10 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE228430 FABP5 inhibition Huh-7 2 v 0 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE239844 6 V 5 CRIZOTINIB HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE226249 5 V 4 PIRFENIDONE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS

GSE225869 1 V 0 TEMOZOLOMIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

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

Gene Set (Entity type)

A Gene Set from LINCS

GSE218773 ABL2 knockdown Hep-G2 2 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE229973 3 V 2 CISPLATIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE226285 3 V 0 GLUTATHIONE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE102467 3 V 2 PAZOPANIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE48812 sulforaphane 4 v 10 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE228430 FABP5 inhibition Huh-7 2 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE239844 6 V 5 CRIZOTINIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE226249 5 V 4 PIRFENIDONE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

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@CFDE Workbench 2026

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

Community

Resources

CFDE Workbench

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.