Gene Gene information from NCBI Gene database.
Entrez ID 283209
Gene name Phosphoglucomutase 2 like 1
Gene symbol PGM2L1
Synonyms (NCBI Gene)
BM32ANEDHFSPMMLP
Chromosome 11
Chromosome location 11q13.4
miRNA miRNA information provided by mirtarbase database.
1319
miRTarBase ID miRNA Experiments Reference
MIRT028180 hsa-miR-93-5p Sequencing 20371350
MIRT039978 hsa-miR-615-3p CLASH 23622248
MIRT712309 hsa-miR-183-5p HITS-CLIP 19536157
MIRT712308 hsa-miR-6892-3p HITS-CLIP 19536157
MIRT712307 hsa-miR-2276-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IEA
GO:0005829 Component Cytosol TAS
GO:0005975 Process Carbohydrate metabolic process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611610 20898 ENSG00000165434
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PCE3
Protein name Glucose 1,6-bisphosphate synthase (EC 2.7.1.106) (PMMLP) (Phosphoglucomutase-2-like 1)
Protein function Glucose 1,6-bisphosphate synthase using 1,3-bisphosphoglycerate as a phosphate donor and a series of 1-phosphate sugars, including glucose 1-phosphate, mannose 1-phosphate, ribose 1-phosphate and deoxyribose 1-phosphate, as acceptors (PubMed:178
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02878 PGM_PMM_I 64 212 Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I Domain
PF02879 PGM_PMM_II 237 347 Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II Domain
PF02880 PGM_PMM_III 353 482 Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III Domain
PF00408 PGM_PMM_IV 528 603 Phosphoglucomutase/phosphomannomutase, C-terminal domain Family
Sequence
Sequence length 622
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Starch and sucrose metabolism
Metabolic pathways
  Glycogen synthesis
Glycolysis
Glycogen breakdown (glycogenolysis)
Galactose catabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities Pathogenic rs2134888290, rs2134963520, rs2495896900, rs1452899724, rs767118518 RCV003225748
RCV003225747
RCV003152360
RCV003152363
RCV003225745
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PGM2L1-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Burnett Schwartz Berberian syndrome Associate 33979636
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Associate 40027181
★☆☆☆☆
Found in Text Mining only
Crohn Disease Associate 19603079
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Associate 33979636
★☆☆☆☆
Found in Text Mining only
Ear Diseases Associate 33979636
★☆☆☆☆
Found in Text Mining only
Jaw Abnormalities Associate 33979636
★☆☆☆☆
Found in Text Mining only
Language Development Disorders Associate 33979636
★☆☆☆☆
Found in Text Mining only
Muscle Hypotonia Associate 33979636
★☆☆☆☆
Found in Text Mining only
Mycosis Fungoides Associate 36400759
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 40027181
★☆☆☆☆
Found in Text Mining only