Tissue expression of PMM2 - Summary - The Human Protein Atlas

GENERAL INFORMATION
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

RNA tissue category

HPA:	Expressed in all
GTEx:	Expressed in all
FANTOM5:	Expressed in all

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Expressed in all

GENE INFORMATION
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 83.38)
Entrez gene	5373
UniProt	O15305 (UniProt - Evidence at protein level)
neXtProt	NX_O15305
Antibodypedia	PMM2 antibodies

PROTEIN BROWSER

PMM2-001	PMM2-015	PMM2-018

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PMM2-001 ENSP00000268261 ENST00000268261	O15305 [Direct mapping] Phosphomannomutase 2 Show all	Enzymes ENZYME proteins Isomerase Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0004615 [phosphomannomutase activity] GO:0005515 [protein binding] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006486 [protein glycosylation] GO:0006488 [dolichol-linked oligosaccharide biosynthetic process] GO:0008152 [metabolic process] GO:0009298 [GDP-mannose biosynthetic process] GO:0018279 [protein N-linked glycosylation via asparagine] GO:0043025 [neuronal cell body] GO:0043687 [post-translational protein modification] GO:0044267 [cellular protein metabolic process] GO:0070062 [extracellular exosome] Show all	246 aa 28.1 kDa	No	0
PMM2-015 ENSP00000456302 ENST00000569958	H3BRM0 [Direct mapping] Phosphomannomutase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0004615 [phosphomannomutase activity] GO:0005737 [cytoplasm] GO:0009298 [GDP-mannose biosynthetic process] Show all	155 aa 17.5 kDa	No	0
PMM2-018 ENSP00000457956 ENST00000566983	H3BV55 [Direct mapping] Phosphomannomutase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003824 [catalytic activity] GO:0004615 [phosphomannomutase activity] GO:0005737 [cytoplasm] GO:0008152 [metabolic process] GO:0009298 [GDP-mannose biosynthetic process] Show all	219 aa 25.3 kDa	No	0