PMM2 - phosphomannomutase 2 Gene

Homo sapiens

Also known as PMI; CDG1; CDGS; PMI1; CDG1a; PMM 2

Gene ID: 5373 | Gene type: protein coding

About PMM2

Cytogenetic location: 16p13.2 Genomic coordinates (GRCh38): 16:8,797,839-8,849,325 (from NCBI)

This gene has 28 transcripts (splice variants), 219 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 15.9), duodenum (RPKM 13.3) and 25 other tissues.

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]

PMM2 Products(1)

mRNA	Protein	Name
NM_000303.3	NP_000294.1	phosphomannomutase 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables phosphomannomutase activity	EXP EXP: Inferred from Experiment	16540464	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in GDP-mannose biosynthetic process from fructose-6-phosphate	IMP IMP: Inferred from mutant phenotype	9525984	GOA
involved in GDP-mannose biosynthetic process from mannose	IMP IMP: Inferred from mutant phenotype	9525984	GOA
involved in mannose catabolic process	IMP IMP: Inferred from mutant phenotype	9525984	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PMM2 Protein Structure

PMM

0
100
200
246 a.a.

Protein Preferred Names

Protein Names

phosphomannomutase 2

mannose-6-phosphate isomerase

Recombinant PMM2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71021	PMM2 Protein, Human (His)	O15305-1 (M1-S246)	≥95%

Related Diseases

Diseases

Alias

Congenital Disorder Of Glycosylation, Type Ia

CDG1A	Cdg Ia
Phosphomannomutase 2 Deficiency	Jaeken Syndrome
Pmm2-Congenital Disorder Of Glycosylation	Congenital Disorder Of Glycosylation Type Ia
Cdgia	Congenital Disorder Of Glycosylation Ia
Congenital Disorder Of Glycosylation 1a	Carbohydrate-Deficient Glycoprotein Syndrome Type Ia
Cdgs1a	Pmm2-Cdg
Cdg-Ia	Congenital Disorder Of Glycosylation Type 1a
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, Formerly	Pmm Deficiency
Cdg Syndrome Type Ia	Carbohydrate Deficient Glycoprotein Syndrome Type Ia
Cdg Syndrome Type 1a	Jaeken'S Syndrome
Pmm2 Deficiency	Glycosylation, Congenital Disorder Of, Type Ia

Cerebral Atrophy

Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay

CHEGDD

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Developmental And Epileptic Encephalopathy 36

Congenital Disorder Of Glycosylation Type I	Epileptic Encephalopathy, Early Infantile, 36
Congenital Disorder Of Glycosylation, Type Is	Cdg1s
Congenital Disorder Of Glycosylation, Type Ie	CDG1E
Congenital Disorder Of Glycosylation Type 1e	DEE36
Eiee36	Cdg Is
Cdgis	Congenital Disorder Of Glycosylation Ie
Congenital Disorder Of Glycosylation 1e	Cdg-Is
Congenital Disorder Of Glycosylation Type Is	Developmental And Epileptic Encephalopathy, 36
Cdg Ie	Cdgie
Early Infantile Epileptic Encephalopathy 36	Alg13-Cdg
Cdg Syndrome Type Is	Congenital Disorder Of Glycosylation Type 1s
Dpm1-Cdg	Cdg Syndrome Type Ie
Cdg-Ie	Carbohydrate Deficient Glycoprotein Syndrome Type Ie
Congenital Disorder Of Glycosylation Type Ie	Dol-P-Mannosyltransferase Deficiency
Congenital Disorder Of Glycosylation 1s	Glycosylation, Congenital Disorder Of, Type I
Glycosylation, Congenital Disorder Of, Type Ie	Congenital Disorder Of Glycosylation Type 1a
Congenital Disorder Of Glycosylation, Type Iu

Spasticity

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Cerebellar Hypoplasia

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Congenital Disorder Of Glycosylation, Type Ic

CDG1C	Congenital Disorder Of Glycosylation Type 1c
Cdgic	Congenital Disorder Of Glycosylation Ic
Congenital Disorder Of Glycosylation 1c	Carbohydrate-Deficient Glycoprotein Syndrome Type V
Cdg Syndrome Type Ic	Congenital Disorder Of Glycosylation Type Ic
Glucosyltransferase 1 Deficiency	Cdg Ic
Carbohydrate-Deficient Glycoprotein Syndrome, Type I, With Deficient Glycosylation Of Dolichol-Linked Oligosaccharide, Formerly	Carbohydrate-Deficient Glycoprotein Syndrome, Type V, Formerly
Cdgs5, Formerly	Alg6-Congenital Disorder Of Glycosylation
Carbohydrate-Deficient Glycoprotein Syndrome Type Ic	Alg6-Cdg
Cdg-Ic	Carbohydrate Deficient Glycoprotein Syndrome Type Ic
Cdgs5	Glycosylation, Congenital Disorder Of, Type Ic

Dissociated Nystagmus

Immunodeficiency 47

Congenital Disorder Of Glycosylation Type Ii	CDG2E
Congenital Disorder Of Glycosylation Type Iie	IMD47
Cdg2s	Cdg Iis
Cdgiis	Immunodeficiency And Hepatopathy With Or Without Neurologic Features
Congenital Disorder Of Glycosylation, Type Ii	CDG1I
Congenital Disorder Of Glycosylation, Type Iie	Cdg Iie
Congenital Disorder Of Glycosylation Type 2e	Congenital Disorder Of Glycosylation, Type Iis
Cdg Ii	Cdgii
Cdgiie	Carbohydrate Deficient Glycoprotein Syndrome Type Iie
Cdg Syndrome Type Iie	Congenital Disorder Of Glycosylation Ii
Congenital Disorder Of Glycosylation 1i	Cdg-Iie
Alg2-Cdg	Cdg-Ii
Glycosylation, Congenital Disorder Of, Type Ii	Cdgiide
Congenital Disorder Of Glycosylation Type Iis	Cog7-Cdg
Cdg Syndrome Type Ii	Carbohydrate Deficient Glycoprotein Syndrome Type Ii
Congenital Disorder Of Glycosylation Type 1i	Mannosyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2e	Congenital Disorder Of Glycosylation 2s
Congenital Disorders Of Glycosylation Type Ii	Glycosylation, Congenital Disorder Of, Type Iie
Immunodeficiency, Type 47	Congenital Disorder Of Glycosylation Type 2a

Munchausen By Proxy

Munchausen Syndrome By Proxy	Munchausen By Proxy Syndrome
Münchausen Syndrome By Proxy

Granulomatous Disease, Chronic, Autosomal Recessive, 2

Chronic Granulomatous Disease Due To Deficiency Of Ncf-2	CGD2
Ncf2 Deficiency	P67-Phox Deficiency
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type 2
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii	Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii
Granulomatous Disease, Chronic, Due To Ncf2 Deficiency	Neutrophil Cytosol Factor 2 Deficiency
Chronic Granulomatous Disease 2, Autosomal Recessive	Autosomal Recessive Chronic Granulomatous Disease 2
Cdg2	Deficiency Of Ncf2
Deficiency Of P67-Phox	Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii
Deficiency Of Neutrophil Cytosol Factor 2	Avellino Corneal Dystrophy

Diabetes Mellitus

Diabetes

Galactosemia I

Galactosemia	Galt Deficiency
Classic Galactosemia	Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose-1-Phosphate Uridyltransferase Deficiency	GALAC1
Galactosemia, Classic	Galactosemia Type 1
Galactosemias	Classical Galactosemia
Galactosaemia	Galactose Intolerance
Epimerase Deficiency Galactosemia	Galactokinase Deficiency Disease
Galactose Epimerase Deficiency	Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
Gale Deficiency	Galk Deficiency
Udp-Galactose-4-Epimerase Deficiency Disease	Utp Hexose-1-Phosphate Uridylyltransferase Deficiency
Galactosemia 1	Galactosemia, Duarte Variant
Deficiency Of Galactokinase	Udpglucose 4-Epimerase Deficiency Disease
Classical Galactosaemia	Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency
Classic Galactosaemia	Deficiency Of Hexose-1-Phosphate Uridylyltransferase
Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase	Deficiency Of Galactose-1-Phosphate Uridylyltransferase
Galactose-1-Phosphate Uridyl Transferase Deficiency	Transferase Deficiency Galactosemia
Deficiency Of Uridyl Transferase	Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase
Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Congenital Disorder Of Glycosylation, Type Iid

CDG2D	Congenital Disorder Of Glycosylation Type Iid
Cdg Iid	Cdgiid
B4galt1-Cdg	Cdg-Iid
Congenital Disorder Of Glycosylation Type 2d	Beta-1,4-Galactosyltransferase Deficiency
Cdg Syndrome Type Iid	Carbohydrate Deficient Glycoprotein Syndrome Type Iid
Congenital Disorder Of Glycosylation 2d	Glycosylation, Congenital Disorder Of, Type Iid
Congenital Disorder Of Glycosylation, Type Iiid

Ngly1-Deficiency

Deficiency Of N-Glycanase 1	Ngly1-Cddg
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Ngly1 Deficiency
Congenital Disorder Of Deglycosylation	Congenital Disorder Of Glycosylation Type Iv
Congenital Disorder Of Deglycosylation	Cddg
Congenital Disorder Of Glycosylation Type Iv	Cdg1v

Congenital Disorder Of Glycosylation, Type Iin

CDG2N	Slc39a8-Cdg
Cdg Iin	Congenital Disorder Of Glycosylation Type Iin
Cdgiin	Carbohydrate Deficient Glycoprotein Syndrome Type Iin
Cdg Syndrome Type Iin	Congenital Disorder Of Glycosylation Type 2n
Cdg-Iin	Cdgiidn
Slc39a8 Deficiency	Congenital Disorder Of Glycosylation 2n
Glycosylation, Congenital Disorder Of, Type Iin

Congenital Disorder Of Glycosylation, Type Iia

CDG2A	Congenital Disorder Of Glycosylation Type Iia
Cdg Iia	Cdgiia
Congenital Disorder Of Glycosylation Type 2a	Alkuraya Syndrome
Mental Retardation, Growth Retardation, Prominent Columella, And Open Mouth	Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii
Mgat2-Cdg	Cdg-Iia
Carbohydrate-Deficient Glycoprotein Syndrome, Type Ii, Formerly	Cdgs2, Formerly
Cdgs2	Cdg Syndrome Type Iia
Carbohydrate Deficient Glycoprotein Syndrome Type Iia	N-Acetylglucosaminyltransferase 2 Deficiency
Congenital Disorder Of Glycosylation 2a	Carbohydrate-Deficient Glycoprotein Syndrome Type Ii
Cdgs Type Ii	Carbohydrate-Deficient Glycoprotein Syndrome Type 2
Glycosylation, Congenital Disorder Of, Type Iia

Fructose-1,6-Bisphosphatase Deficiency

Fructose-1,6-Diphosphatase Deficiency	Baker-Winegrad Disease
FBP1D	Fbpase Deficiency
Fructose 1,6 Diphosphatase Deficiency	Fructose 1 Phosphate Aldolase Deficiency
Fbp1 Deficiency	Hereditary Fructose Intolerance Syndrome

Protein-Losing Enteropathy

Protein-Losing Enteropathies	Enteropathy, Exudative
Exudative Enteropathy	Ple - [Protein-Losing Enteropathy]

Esotropia

Convergence In Manifest Squint	Crossed Eyes
Internal Strabismus	Convergent Concomitant Strabismus
Convergent Squint	Convergent Strabismus
Cross-Eye

Epidermolysis Bullosa, Junctional 1b, Severe

Epidermolysis Bullosa, Junctional, Herlitz Type	Epidermolysis Bullosa Letalis
JEB1B	Epidermolysis Bullosa Junctionalis, Herlitz Type
Jeb-Herlitz Type	Herlitz-Pearson-Type Epidermolysis Bullosa
Junctional Epidermolysis Bullosa Herlitz Type	Jeb-H
Junctional Epidermolysis Bullosa Generalisata Gravis	Junctional Epidermolysis Bullosa, Herlitz-Pearson Type
Epidermolysis Bullosa, Junctional, Generalized Severe	Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type
Herlitz Type Epidermolysis Bullosa Junctionalis	Severe Generalized Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa, Herlitz Type	Severe Generalized Jeb
Epidermolysis Letalis	Junctional Epidermolysis Bullosa Gravis
Junctional Epidermolysis Bullosa Herlitz-Pearson Type	Herlitz Disease

Hyperinsulinemic Hypoglycemia, Familial, 6

Hyperinsulinism-Hyperammonemia Syndrome	HHF6
Familial Hyperinsulinemic Hypoglycemia 6	Hi/Ha Syndrome
Ha/Hi Syndrome	Hyperinsulinemic Hypoglycemia Familial 6
Hyperinsulinism Hyperammonemia Syndrome	Hhs

Hyperphenylalaninemia, Bh4-Deficient, A

6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pts Deficiency
HPABH4A	Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency
Ptsd	Bh4-Deficient Hyperphenylalaninemia A
Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency	Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency
Hyperphenylalanemia, Bh4-Deficient, A	Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
6-Pyruvoyltetrahydropterin Synthase Deficiency	Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency
Ptpsd	Hyperphenylalaninemia, Bh4-Deficient, Type A

Congenital Disorder Of Glycosylation, Type Iik

CDG2K	Congenital Disorder Of Glycosylation Type Iik
Cdg Iik	Cdgiik
Carbohydrate Deficient Glycoprotein Syndrome Type Iik	Cdg Syndrome Type Iik
Congenital Disorder Of Glycosylation Type 2k	Tmem165-Cdg
Cdg-Iik	Cdgiidk
Congenital Disorder Of Glycosylation 2k	Glycosylation, Congenital Disorder Of, Type Iik

Congenital Disorder Of Glycosylation, Type Iii

CDG2I	Congenital Disorder Of Glycosylation Type Iii
Cdgiii	Carbohydrate Deficient Glycoprotein Syndrome Type Iii
Congenital Disorder Of Glycosylation Type 2i	Cog5-Cdg
Cdgiidi	Congenital Disorder Of Glycosylation 2i
Glycosylation, Congenital Disorder Of, Type Iii	Congenital Disorder Of Glycosylation, Type I-Iix

Hyperinsulinemic Hypoglycemia

Nesidioblastosis	Islet Cell Hyperplasia
Persistent Hyperinsulinemia Hypoglycemia Of Infancy	Hyperinsulinemic Hypoglycaemia

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease

Autosomal Recessive Polycystic Kidney Disease	Arpkd
Polycystic Kidney Disease, Autosomal Recessive	Polycystic Kidney And Hepatic Disease 1
Pkhd1	PKD4
Polycystic Kidney Disease 4 With Or Without Hepatic Disease	Polycystic Kidney Disease, Infantile, Type I
Polycystic Kidney Disease, Infantile Type	Polycystic Kidney, Autosomal Recessive
Pkd3, Formerly	Polycystic Kidney Disease 4, With Or Without Hepatic Disease
Arpkd/Chf	Ar-Pkd
Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease	Infantile Polycystic Kidney Disease Type I
Pkd3	Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease
Polycystic Kidney Disease 3, Autosomal Dominant

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-138802	ML089		99.86%	Unkown
HY-124890	Thr101		99.36%	Unkown
HY-RS10767	PMM2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PMM2	VGNC	VGNC:44734
Mus musculus	PMM2	MGD	MGI:1859214
Felis catus	PMM2	VGNC	VGNC:68922
Macaca mulatta	PMM2	VGNC	VGNC:76193
Rattus norvegicus	PMM2	RGD	RGD:1309366
Bos taurus	PMM2	VGNC	VGNC:33073
Others	PMM2	NCBI