POMGNT2 - protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) Gene

Also Known as AGO61; GTDC2; MDDGA8; MDDGC8; C3orf39

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84892

About POMGNT2

Cytogenetic location: 3p22.1 Genomic coordinates (GRCh38): 3:43,079,234-43,106,079 (from NCBI)

This gene has 8 transcripts (splice variants), 188 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in endometrium (RPKM 11.1), brain (RPKM 9.1) and 25 other tissues.

Summary

This gene encodes a protein with Glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]

POMGNT2 Products (1)

mRNA	Protein	Name
NM_032806.6	NP_116195.2	protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	23929950	GOA
enables protein O-acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	23929950	GOA
enables protein O-acetylglucosaminyltransferase activity	IMP IMP: Inferred from mutant phenotype	27066570	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in protein O-linked glycosylation	IDA IDA: Inferred from direct assay	23929950	GOA
involved in protein O-linked glycosylation	IMP IMP: Inferred from mutant phenotype	27066570	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	23929950	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

POMGNT2 Protein Structure

DUF563

0
100
200
300
400
500
580 a.a.

Protein Preferred Names	Protein Names
protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2	glycosyltransferase-like domain containing 2

POMGNT2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	POMGNT2	Q8NAT1	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Prey Pooling	25416956
Intra	POMGNT2	Q8NAT1	NOTCH2NLA	Homo sapiens	Q7Z3S9	Validated Y2H	25416956
Intra	POMGNT2	Q8NAT1	NOTCH2NLA	Homo sapiens	Q7Z3S9	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Muscular Dystrophy-Dystroglycanopathy , Type A, 8	MDDGA8 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Gtdc2-Related Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A8 Muscle-Eye-Brain Disease Gtdc2-Related Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies, Type A, 8 Walker-Warburg Syndrome Gtdc2-Related
Muscular Dystrophy-Dystroglycanopathy , Type C, 8	Lgmdr24 Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt2-Related Muscular Dystrophy-Dystroglycanopathy Type C, 8 MDDGC8 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 24 Muscular Dystrophy-Dystroglycanopathy Type C8 Autosomal Recessive Limb-Girdle Muscular Dystrophy 24 Mddgc2 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C8
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
Muscular Disease
Exostosis	Osteophyte Exostoses Orbital Exostosis Exostosis Of Orbit Bone Spur Bony Outgrowth Swimmer'S Exostosis Osteophytes External Exotoses Cartilaginous Exostosis
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Muscle Eye Brain Disease	Muscle-Eye-Brain Disease Muscle-Eye-Brain Syndrome Meb Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3 Meb Syndrome Santavuori Congenital Muscular Dystrophy
Muscular Dystrophy-Dystroglycanopathy , Type B, 5	Mdc1c Muscular Dystrophy-Dystroglycanopathy Type B5 MDDGB5 Muscular Dystrophy, Congenital, 1c Muscular Dystrophy, Congenital, Fkrp-Related Congenital Muscular Dystrophy 1c Fkrp-Related Congenital Muscular Dystrophy Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5 Muscular Dystrophy Congenital Type 1c Muscular Dystrophy Fkrp-Related
Hereditary Multiple Exostoses	Multiple Congenital Exostosis Hereditary Multiple Exostoses 1 Hereditary Multiple Exostoses 2 Hereditary Multiple Exostoses 3 Multiple Exostosis Syndromes Multiple Ostechondromas Osteochondromatosis Syndrome Exostoses Multiple Hereditary Exostoses, Multiple Hereditary
Muscular Dystrophy-Dystroglycanopathy , Type C, 5	Lgmd2i Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i MDDGC5 Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency Limb-Girdle Muscular Dystrophy Type 2i Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9 Lgmdr9 Muscular Dystrophy, Limb-Girdle, Type 2i Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related Fkrp-Related Limb-Girdle Muscular Dystrophy R9 Fkrp-Related Lgmd R9 Lgmd Due To Fkrp Deficiency Lgmd Type 2i Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related Muscular Dystrophy Limb-Girdle Type 2i Muscular Dystrophy-Dystroglycanopathy Type C 5 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5 Dystrophy, Muscular, Limb-Girdle, Type 2i
Muscular Dystrophy-Dystroglycanopathy , Type A, 4	Fukuyama Congenital Muscular Dystrophy Fcmd MDDGA4 Fukuyama Type Congenital Muscular Dystrophy Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related Cerebromuscular Dystrophy, Fukuyama Type Fukuyama Cmd Fukuyama Muscular Dystrophy Fukuyama Syndrome Muscular Dystrophy, Congenital Progressive, With Mental Retardation Muscular Dystrophy, Congenital, Fukuyama Type Muscular Dystrophy, Congenital, With Central Nervous System Involvement Polymicrogyria With Muscular Dystrophy Congenital Muscular Dystrophy, Fukuyama Type Fktn-Related Congenital Muscular Dystrophy Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4 Cerebromuscular Dystrophy Fukuyama Type Congenital Muscular Dystrophy Fukuyama Type Micropolygyria With Muscular Dystrophy Muscle-Eye-Brain Disease Fktn-Related Walker-Warburg Syndrome Fktn-Related
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemic Familial Tumoral Calcinosis Hftc Hyperostosis-Hyperphosphatemia Syndrome Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome Tumoral Calcinosis, Hyperphosphatemic, Familial Phptc Lipocalcinogranulomatosis Morbus Teutschlaender Hhs Hyperostosis With Hyperphosphatemia Cortical Hyperostosis With Hyperphosphatemia Primary Hyperphosphatemic Tumoral Calcinosis Familial Tumoral Calcinosis HFTC1 Hypercalcemic Tumoral Calcinosis Hyperphosphatemia Hyperostosis Hyperphosphatemia Hyperostosis Syndrome Hyperphosphatemia Tumoral Calcinosis Tumoral Calcinosis Calcinosis, Tumoral, With Hyperphosphatemia Tumoral Calcinosis, Primary Hyperphosphatemic Teutschlaender Disease, Familial Familial Teutschlaender Disease Tumoral Calcinosis With Hyperphosphatemia Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome Ftc/Hhs Familial Tumoral Calcinosis With Hyperphosphatemia Teutschlaender Disease Tumoral Calcinosis Primary Hyperphosphatemic Calcinosis, Tumoral, Hyperphosphatemic, Familial
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
Hereditary Multiple Osteochondromas	Hereditary Multiple Exostoses Diaphyseal Aclasis Multiple Cartilaginous Exostoses Multiple Hereditary Exostoses Bessel-Hagen Disease Exostoses, Multiple Hereditary Familial Exostoses Multiple Congenital Exostosis Multiple Osteochondromas Multiple Osteochondromatosis Osteochondromatosis
Muscular Dystrophy-Dystroglycanopathy , Type B, 1	MDDGB1 Muscular Dystrophy-Dystroglycanopathy , Type B1 Muscular Dystrophy, Congenital, Pomt1-Related Muscular Dystrophy-Dystroglycanopathy Type B1 Cmd Due To Dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1 Muscular Dystrophy Congenital Pomt1-Related Muscular Dystrophy-Dystroglycanopathy Dystrophy, Muscular, Dystroglycanopathy , Type B1
Muscular Dystrophy-Dystroglycanopathy	Cmd Due To Dystroglycanopathy Congenital Muscular Dystrophy Due To Dystroglycanopathy Mddg Dystrophy, Muscular, Dystroglycanopathy
Cobblestone Lissencephaly	Lissencephaly Type 2 Lissencephaly, Cobblestone
Muscular Dystrophy, Congenital, Lmna-Related	Congenital Muscular Dystrophy Congenital Muscular Dystrophy Due To Lmna Mutation MDCL L-Cmd Lmna-Related Congenital Muscular Dystrophy Muscular Dystrophy, Congenital Congenital Muscular Dystrophy Lmna-Related Lmna-Related Cmd Cmd Mdc Muscular Dystrophy Congenital Lmna-Related Dystrophy, Muscular, Congenital, Lmna-Related Dystrophy, Muscular, Congenital Hereditary Muscular Dystrophy Congenital Hereditary Muscular Dystrophy Congenital Progressive Muscular Dystrophy Hereditary Progressive Muscular Dystrophy
Muscular Dystrophy-Dystroglycanopathy , Type C, 3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o MDDGC3 Lgmd2o Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15 Lgmdr15 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related Muscular Dystrophy, Limb-Girdle, Type 2o Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related Muscular Dystrophy-Dystroglycanopathy Type C3 Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15 Lgmd Type 2o Limb-Girdle Muscular Dystrophy Type 2o Pomgnt1-Related Lgmd R15 Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3 Dystrophy, Muscular, Limb-Girdle, Type 2o
Congenital Muscular Dystrophy-Dystroglycanopathy Type A	Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies Mddga Klissencephaly Type 2 With Muscular And Ocular Involvement Lissencephaly Type 2 With Muscular And Ocular Involvement
Congenital Muscular Dystrophy-Dystroglycanopathy Type A3	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A3 Mddga3 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A3
Cardiomyopathy, Dilated, 1kk	Cardiomyopathy, Familial Restrictive, 4 Dilated Cardiomyopathy 1kk CMD1KK Cardiomyopathy, Hypertrophic, 22 Cardiomyopathy, Dilated 1kk Cardiomyopathy, Familial Hypertrophic 22 CMH22 Cardiomyopathy, Familial Restrictive 4 RCM4 Familial Hypertrophic Cardiomyopathy 22 Cardiomyopathy, Dilated, Type 1kk Cardiomyopathy, Familial Hypertrophic, 22
Lissencephaly	Pachygyria Broad Gyri Of Cerebrum Large Gyri Of Cerebrum Macrogyria
Nemaline Myopathy 11, Autosomal Recessive	NEM11 Nemaline Myopathy 11
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic Cardiomyopathy 9 CMH9 Cardiomyopathy, Familial Hypertrophic 9 Cardiomyopathy, Hypertrophic, Familial, Type 9
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Lgmd2b Muscular Dystrophy, Limb-Girdle, Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Beta-Sarcoglycanopathy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y Muscular Dystrophy, Limb-Girdle, Type 3 Lgmd3 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s LGMDR2 Muscular Dystrophy, Limb-Girdle, Type 2s Limb-Girdle Muscular Dystrophy Type 2b Lgmd2e Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency Muscular Dystrophy, Limb-Girdle, Type 2e Lgmd2s Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency Lgmd2y Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine Muscular Dystrophy, Limb-Girdle, Type 2y Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Dysferlin-Related Lgmd R2 Lgmd Due To Dysferlin Deficiency Lgmd Type 2b Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency Limb-Girdle Muscular Dystrophy 2b Limb-Girdle Muscular Dystrophy, Type 2b Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2 Dystrophy, Muscular, Limb-Girdle, Type 2b Limb-Girdle Muscular Dystrophy, Type 2e
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Rippling Muscle Disease 2	Rippling Muscle Disease Rmd Lgmd1c RMD2 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Muscular Dystrophy, Limb-Girdle, Type 1c Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly Lgmd1c, Formerly Limb-Girdle Muscular Dystrophy Type 1c Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency Muscular Dystrophy, Limb-Girdle, Type Ic Rippling Muscle Syndrome Limb-Girdle Muscular Dystrophy 1c Dystrophy, Muscular, Limb-Girdle, Type 1c Disease, Muscle, Rippling, Type 2 Rippling Muscle Disease 1
Adams-Oliver Syndrome	Adams Oliver Syndrome Aos Congenital Scalp Defects With Distal Limb Reduction Anomalies Aplasia Cutis Congenita With Terminal Transverse Limb Defects Congenital Scalp Defects With Distal Limb Anomalies Limb, Scalp And Skull Defects Limb Scalp And Skull Defects Absence Defect Of Limbs, Scalp, And Skull
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Periventricular Nodular Heterotopia	Periventricular Heterotopia Pvnh Familial Nodular Heterotopia Heterotopia, Periventricular Periventricular Heterotopia, X-Linked
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10867	POMGNT2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	POMGNT2	RGD	RGD:1304827
Macaca mulatta	POMGNT2	VGNC	VGNC:84062
Mus musculus	POMGNT2	MGD	MGI:2143424
Others	POMGNT2	NCBI