MMD2 (monocyte to macrophage differentiation associated 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 221938
Gene name Monocyte to macrophage differentiation associated 2
Gene symbol MMD2
Synonyms (NCBI Gene)
PAQR10
Chromosome 7
Chromosome location 7p22.1
Summary This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane doma
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 22339580
GO:0000139 Component Golgi membrane IEA
GO:0004672 Function Protein kinase activity IDA 21968647
GO:0005515 Function Protein binding IPI 32296183
GO:0005794 Component Golgi apparatus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
614581 30133 ENSG00000136297
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IY49
Protein name Monocyte to macrophage differentiation factor 2 (Progestin and adipoQ receptor family member 10) (Progestin and adipoQ receptor family member X)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03006 HlyIII 32 → 251 Haemolysin-III related Family
Tissue specificity TISSUE SPECIFICITY: Shows restricted expression with highest levels in brain and testis. {ECO:0000269|PubMed:16044242}.
Sequence
Sequence length 270
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (1)
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
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations