Gene Gene information from NCBI Gene database.
Entrez ID 4074
Gene name Mannose-6-phosphate receptor, cation dependent
Gene symbol M6PR
Synonyms (NCBI Gene)
CD-M6PRCD-MPRMPR 46MPR-46MPR46SMPR
Chromosome 12
Chromosome location 12p13.31
Summary This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein func
miRNA miRNA information provided by mirtarbase database.
1261
miRTarBase ID miRNA Experiments Reference
MIRT005835 hsa-miR-204-5p ImmunoblotLuciferase reporter assayMicroarrayqRT-PCRWestern blot 21282569
MIRT045509 hsa-miR-149-5p CLASH 23622248
MIRT041910 hsa-miR-484 CLASH 23622248
MIRT054448 hsa-miR-211-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 24039954
MIRT473912 hsa-miR-20b-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0004888 Function Transmembrane signaling receptor activity TAS 10799489
GO:0005515 Function Protein binding IPI 11387475, 27385586, 32296183, 32814053, 37100772
GO:0005737 Component Cytoplasm IEA
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
154540 6752 ENSG00000003056
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20645
Protein name Cation-dependent mannose-6-phosphate receptor (CD Man-6-P receptor) (CD-MPR) (46 kDa mannose 6-phosphate receptor) (MPR 46)
Protein function Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resultin
PDB 1JUQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02157 Man-6-P_recep 24 277 Mannose-6-phosphate receptor Family
Sequence
Sequence length 277
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Lysosome
Phagosome
Salmonella infection
  Lysosome Vesicle Biogenesis
Retrograde transport at the Trans-Golgi-Network
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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
CARCINOMA, RENAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION 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
Autoimmune Diseases Autoimmune Diseases BEFREE 28496990
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30086159, 38203393 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36674931 Associate
★☆☆☆☆
Found in Text Mining only
Chromophobe Renal Cell Carcinoma Chromophobe Carcinoma CTD_human_DG 23797736
★☆☆☆☆
Found in Text Mining only
Collecting Duct Carcinoma of the Kidney Renal Carcinoma CTD_human_DG 23797736
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma CTD_human_DG 23797736
★☆☆☆☆
Found in Text Mining only
Depressive disorder Mental Depression BEFREE 15167696
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Depressive disorder Mental Depression PSYGENET_DG 15167696
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms Esophageal neoplasm Pubtator 36632458 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Esophageal squamous cell carcinoma Pubtator 36632458 Associate
★☆☆☆☆
Found in Text Mining only