Gene Gene information from NCBI Gene database.
Entrez ID 219972
Gene name Macrophage expressed 1
Gene symbol MPEG1
Synonyms (NCBI Gene)
IMD77MPG1MPS1Mpg-1P-2
Chromosome 11
Chromosome location 11q12.1
miRNA miRNA information provided by mirtarbase database.
146
miRTarBase ID miRNA Experiments Reference
MIRT722649 hsa-miR-8485 HITS-CLIP 19536157
MIRT722648 hsa-miR-3120-3p HITS-CLIP 19536157
MIRT722647 hsa-miR-125a-3p HITS-CLIP 19536157
MIRT722646 hsa-miR-4668-5p HITS-CLIP 19536157
MIRT722645 hsa-miR-3153 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0002468 Process Dendritic cell antigen processing and presentation ISS
GO:0002478 Process Antigen processing and presentation of exogenous peptide antigen ISS
GO:0002479 Process Antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent IDA 9716645
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610390 29619 ENSG00000197629
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q2M385
Protein name Macrophage-expressed gene 1 protein (Macrophage gene 1 protein) (Mpg-1) (Perforin-2) (P-2) [Cleaved into: Macrophage-expressed gene 1 protein, processed form]
Protein function Pore-forming protein involved in both innate and adaptive immunity (PubMed:23753625, PubMed:26402460, PubMed:28422754, PubMed:30609079, PubMed:31537793, PubMed:33224153). Plays a central role in antigen cross-presentation in dendritic cells by f
PDB 6U23 , 6U2J , 6U2K , 6U2L , 6U2W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01823 MACPF 125 341 MAC/Perforin domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed constitutively in a variety of cell types including macrophages, natural killer cells, neutrophils, keratinocytes and monocytes (PubMed:26402460, PubMed:28705375, PubMed:7888681). In skin, expressed in both hematopoietic and
Sequence
MNNFRATILFWAAAAWAKSGKPSGEMDEVGVQKCKNALKLPVLEVLPGGGWDNLRNVDMG
RVMELTYSNCRTTEDGQYIIPDEIFTIPQKQSNLEMNSEILESWANYQSSTSYSINTELS
LFSKVNGKFSTEFQRMKTLQVKDQAITTRVQVRNLVYTVKINPTLELSSGFRKELLDISD
RLENNQTRMATYLAELLVLNYGTHVTTSVDAGAALIQEDHLRASFLQDSQSSRSAVTASA
GLAFQNTVNFKFEENYTSQNVLTKSYLSNRTNSRVQSIGGVPFYPGITLQAWQQGITNHL
VAIDRSGLPLHFFINPNMLPDLPGPLVKKVSKTVETAVKRY
YTFNTYPGCTDLNSPNFNF
QANTDDGSCEGKMTNFSFGGVYQECTQLSGNRDVLLCQKLEQKNPLTGDFSCPSGYSPVH
LLSQIHEEGYNHLECHRKCTLLVFCKTVCEDVFQVAKAEFRAFWCVASSQVPENSGLLFG
GLFSSKSINPMTNAQSCPAGYFPLRLFENLKVCVSQDYELGSRFAVPFGGFFSCTVGNPL
VDPAISRDLGAPSLKKCPGGFSQHPALISDGCQVSYCVKSGLFTGGSLPPARLPPFTRPP
LMSQAATNTVIVTNSENARSWIKDSQTHQWRLGEPIELRRAMNVIHGDGGGLSGGAAAGV
TVGVTTILAVVITLAIYGTRKFKKKAYQAIEERQSLVPGTAATGDTTYQEQGQSPA
Sequence length 716
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
Immunodeficiency 77 Pathogenic rs761971524 RCV001338474
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia 3 Pathogenic rs2496452431 RCV003234813
★★★★☆
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
Castleman-Kojima disease Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 3 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MPEG1-related disorder Uncertain significance; Likely benign ClinVar
★★☆☆☆
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
Adult Medulloblastoma Medulloblastoma BEFREE 27633003
★☆☆☆☆
Found in Text Mining only
alpha-L-Iduronidase Deficiency Mucopolysaccharidosis BEFREE 19751987, 24411223
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Early Onset Alzheimer disease BEFREE 17927985
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 24282275, 25137017
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 31614249
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31614249
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 35919038 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21402910, 28259529, 30693152
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31215439 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 39871215 Associate
★☆☆☆☆
Found in Text Mining only