Gene Gene information from NCBI Gene database.
Entrez ID 5239
Gene name Phosphoglucomutase 5
Gene symbol PGM5
Synonyms (NCBI Gene)
PGMRP
Chromosome 9
Chromosome location 9q21.11
Summary Phosphoglucomutases (EC 5.2.2.2.), such as PGM5, are phosphotransferases involved in interconversion of glucose-1-phosphate and glucose-6-phosphate. PGM activity is essential in formation of carbohydrates from glucose-6-phosphate and in formation of gluco
miRNA miRNA information provided by mirtarbase database.
119
miRTarBase ID miRNA Experiments Reference
MIRT017304 hsa-miR-335-5p Microarray 18185580
MIRT022385 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT1227917 hsa-miR-106a CLIP-seq
MIRT1227918 hsa-miR-106b CLIP-seq
MIRT1227919 hsa-miR-1207-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0000287 Function Magnesium ion binding IEA
GO:0001725 Component Stress fiber IDA 8175905
GO:0004614 Function Phosphoglucomutase activity IBA
GO:0004614 Function Phosphoglucomutase activity IDA 8175905
GO:0005198 Function Structural molecule activity NAS 8631316
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600981 8908 ENSG00000154330
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15124
Protein name Phosphoglucomutase-like protein 5 (Aciculin) (Phosphoglucomutase-related protein) (PGM-RP)
Protein function Component of adherens-type cell-cell and cell-matrix junctions (PubMed:8175905). Has no phosphoglucomutase activity in vitro (PubMed:8175905).
PDB 7U21
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02878 PGM_PMM_I 19 163 Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I Domain
PF02879 PGM_PMM_II 198 306 Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain II Domain
PF02880 PGM_PMM_III 311 425 Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain III Domain
Tissue specificity TISSUE SPECIFICITY: Detected in smooth and cardiac muscle at high levels and in skeletal muscle at low level. Present in other tissues due to vascular or other smooth muscle component. Low levels are present in liver, kidney, skin and brain (at protein le
Sequence
Sequence length 567
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bladder Neoplasm Bladder Neoplasm BEFREE 30025927
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 30025927
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 31858536 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 36451444 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31582909, 31619123
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 28797257, 32767323, 34212174 Associate
★☆☆☆☆
Found in Text Mining only
Juvenile arthritis Arthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Juvenile psoriatic arthritis Juvenile arthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Juvenile-Onset Still Disease Still Disease CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 31858536 Inhibit
★☆☆☆☆
Found in Text Mining only