Gene Gene information from NCBI Gene database.
Entrez ID 23531
Gene name Monocyte to macrophage differentiation associated
Gene symbol MMD
Synonyms (NCBI Gene)
MMAMMD1PAQR11
Chromosome 17
Chromosome location 17q22
Summary This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been p
miRNA miRNA information provided by mirtarbase database.
315
miRTarBase ID miRNA Experiments Reference
MIRT002814 hsa-miR-1-3p Microarray 15685193
MIRT017756 hsa-miR-335-5p Microarray 18185580
MIRT002814 hsa-miR-1-3p Microarray 18668037
MIRT002814 hsa-miR-1-3p Microarray 15685193
MIRT029369 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0004672 Function Protein kinase activity IDA 21968647
GO:0005515 Function Protein binding IPI 32296183
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IEA
GO:0005768 Component Endosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604467 7153 ENSG00000108960
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15546
Protein name Monocyte to macrophage differentiation factor (Progestin and adipoQ receptor family member 11) (Progestin and adipoQ receptor family member XI)
Protein function Involved in the dynamics of lysosomal membranes associated with microglial activation following brain lesion.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03006 HlyIII 24 220 Haemolysin-III related Family
Tissue specificity TISSUE SPECIFICITY: Exhibits relatively ubiquitous expression with preferential expression in mature (in vitro differentiated) macrophages. {ECO:0000269|PubMed:16044242}.
Sequence
Sequence length 238
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
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
Anemia Anemia BEFREE 27131640
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29567577
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 33851416 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 29567577
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 27557380
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 24971538
★☆☆☆☆
Found in Text Mining only
Chronic interstitial nephritis Interstitial Nephritis BEFREE 30973671
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 25339833 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 19283448, 19409525
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 33750834 Associate
★☆☆☆☆
Found in Text Mining only