PMM2 phosphomannomutase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PMM2provided by HGNC
Official Full Name: phosphomannomutase 2provided by HGNC
Primary source: HGNC:HGNC:9115
See related: Ensembl:ENSG00000140650 MIM:601785; AllianceGenome:HGNC:9115
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PMI; CDG1; CDGS; PMI1; CDG1a; PMM 2
Summary: 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]
Expression: Ubiquitous expression in colon (RPKM 15.9), duodenum (RPKM 13.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16p13.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (8797839..8849325)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (8830591..8882071)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (8891696..8943182)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Title: Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.
Title: Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study.
Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
Title: Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability.
Title: Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability.
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
Title: A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Title: Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
Title: Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
Genotype-Phenotype Correlations in PMM2-CDG.
Title: Genotype-Phenotype Correlations in PMM2-CDG.
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
Title: Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia.
Title: Mutations in PMM2 gene in four unrelated Spanish families with polycystic kidney disease and hyperinsulinemic hypoglycemia.

Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
PMM2-congenital disorder of glycosylation MedGen: C0349653 OMIM: 212065 GeneReviews: PMM2-CDG, Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs

EBI GWAS Catalog

Description
Common variants near ABCA1 and in PMM2 are associated with primary open-angle glaucoma. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The gene expression of phosphomannomutase 2 is significantly upregulated in both clade B and clade C Tat treated SK-N-MC neuroblastoma cells	PubMed
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human phosphomannomutase 2 (PMM2) at amino acid residues 10-11 by the HIV-1 protease	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-60564 (e-PCR)
- UniSTS:83219

STS-AA022584 (e-PCR)
- UniSTS:71489

SHGC-60763 (e-PCR)
- UniSTS:20548

RH48187 (e-PCR)
- UniSTS:58206

MARC_26359-29406:1040140027:1 (e-PCR)
- UniSTS:268988

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphomannomutase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphomannomutase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in GDP-mannose biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in GDP-mannose biosynthetic process	TAS Traceable Author Statement more info
involved_in mannose metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein N-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein glycosylation	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: phosphomannomutase 2

Names: mannose-6-phosphate isomerase; phosphomannose isomerase 1

NP_000294.1

EC 5.4.2.8

XP_047290171.1

EC 5.4.2.8

XP_054236452.1

EC 5.4.2.8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.