Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5238
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphoglucomutase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PGM3
Synonyms (NCBI Gene) Gene synonyms aliases
AGM1, IMD23, PAGM, PGM 3
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q14.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymo
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs267608259 TTC>- Pathogenic Coding sequence variant, inframe deletion, non coding transcript variant
rs267608260 A>G Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs587777414 AAGTT>- Pathogenic Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs587777415 A>C Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs587777416 ACT>- Pathogenic Non coding transcript variant, inframe indel, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023451 hsa-miR-30b-5p Sequencing 20371350
MIRT024516 hsa-miR-215-5p Microarray 19074876
MIRT026705 hsa-miR-192-5p Microarray 19074876
MIRT032419 hsa-let-7b-5p Proteomics 18668040
MIRT045722 hsa-miR-125a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IEA
GO:0004610 Function Phosphoacetylglucosamine mutase activity IBA
GO:0004610 Function Phosphoacetylglucosamine mutase activity IDA 11004509
GO:0004610 Function Phosphoacetylglucosamine mutase activity IEA
GO:0004610 Function Phosphoacetylglucosamine mutase activity IMP 24589341
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
172100 8907 ENSG00000013375
Protein
UniProt ID O95394
Protein name Phosphoacetylglucosamine mutase (PAGM) (EC 5.4.2.3) (Acetylglucosamine phosphomutase) (N-acetylglucosamine-phosphate mutase) (Phosphoglucomutase-3) (PGM 3)
Protein function Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation. {ECO:0000303|PubMed:24589341,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02878 PGM_PMM_I 44 102 Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I Domain
PF02878 PGM_PMM_I 103 198 Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I Domain
PF00408 PGM_PMM_IV 431 528 Phosphoglucomutase/phosphomannomutase, C-terminal domain Family
Tissue specificity TISSUE SPECIFICITY: Found in many tissues except lung. Relatively high expression in pancreas, heart, liver, and placenta, and relatively low expression in brain, skeletal muscle and kidney. {ECO:0000269|PubMed:10721701}.
Sequence
MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVM
VTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDM
QRVLIDISEKEAVNLQQD
AFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATI
EGYYQKLSKAFVELTKQA
SCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDG
SKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDK
IATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKA
QEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAI
SDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEA
INDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVF
QLAGGIGERPQP
GF
Sequence length 542
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Amino sugar and nucleotide sugar metabolism
Metabolic pathways
Biosynthesis of nucleotide sugars
  Synthesis of UDP-N-acetyl-glucosamine
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency immunodeficiency 23 rs587777416, rs1404084330, rs144104577, rs267608260, rs267608261, rs762678772, rs587777562, rs587777564, rs587777413, rs587777565, rs587777414, rs587777415, rs869312886 N/A
severe combined immunodeficiency disease Severe combined immunodeficiency disease rs144104577, rs587777562 N/A
hyper-ige syndrome Hyper-IgE syndrome rs267608260, rs267608261, rs267608259 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Autoimmune Diseases Associate 24589341
Bone Marrow Failure Disorders Associate 28543917
Colitis Ulcerative Associate 39596612
Colorectal Neoplasms Associate 35723049
Congenital Disorders of Glycosylation Associate 24589341, 24931394, 26482871, 31231132
Demyelinating Diseases Associate 24589341
Desbuquois syndrome Associate 28543917
Developmental Defects of Enamel Associate 26482871
Developmental Disabilities Associate 24698316
Eczema Associate 30157810