PMM2

GENERAL INFORMATION

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Gene name

PMM2

Gene description

Phosphomannomutase 2

Protein class

Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Most normal tissues showed moderate cytoplasmic staining which in cases was combined with nuclear positivity. Nasopharynx, salivary glands, seminiferus duct cells and the thyroid displayed strong immunoreactivity. Cells in CNS and placenta were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA040852
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

PMM2 (HGNC Symbol)

Synonyms

CDG1, CDG1a, CDGS, PMI, PMI1

Description

Phosphomannomutase 2 (HGNC Symbol)

Entrez gene 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]

Chromosome

16

Cytoband

p13.2

Chromosome location (bp)

8788823 - 8849331

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000140650 (version 78.38)

Entrez gene

5373

UniProt

O15305 (UniProt - Evidence at protein level)

neXtProt

NX_O15305

Antibodypedia

PMM2 antibodies


PROTEIN BROWSER

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ENST00000268261
 
ENST00000566983
 
ENST00000569958
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PMM2-001 ENSP00000268261
ENST00000268261
O15305
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Show » Show » 246 28.1 No 0
PMM2-015 ENSP00000456302
ENST00000569958
H3BRM0
Show all »
Show » Show » 155 17.5 No 0
PMM2-018 ENSP00000457956
ENST00000566983
H3BV55
Show all »
Show » Show » 219 25.3 No 0