Gene Gene information from NCBI Gene database.
Entrez ID 2014
Gene name Epithelial membrane protein 3 (MAM blood group)
Gene symbol EMP3
Synonyms (NCBI Gene)
YMP
Chromosome 19
Chromosome location 19q13.33
Summary The protein encoded by this gene belongs to the PMP-22/EMP/MP20 family of proteins. The protein contains four transmembrane domains and two N-linked glycosylation sites. It is thought to be involved in cell proliferation, cell-cell interactions and functi
miRNA miRNA information provided by mirtarbase database.
11
miRTarBase ID miRNA Experiments Reference
MIRT023708 hsa-miR-1-3p Proteomics 18668040
MIRT029355 hsa-miR-26b-5p Microarray 19088304
MIRT962621 hsa-miR-1908 CLIP-seq
MIRT962622 hsa-miR-3179 CLIP-seq
MIRT962623 hsa-miR-3180 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12107182, 25416956, 30614533, 31515488, 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 12107182
GO:0006915 Process Apoptotic process IDA 12107182
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602335 3335 ENSG00000142227
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54852
Protein name Epithelial membrane protein 3 (EMP-3) (Hematopoietic neural membrane protein 1) (HNMP-1) (Protein YMP)
Protein function Probably involved in cell proliferation and cell-cell interactions.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 1 156 PMP-22/EMP/MP20/Claudin family Family
Sequence
Sequence length 163
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  TGF-beta signaling pathway  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE DERMATOMYOSITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS CTD
★★☆☆☆
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
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 18499731
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 37629198 Associate
★☆☆☆☆
Found in Text Mining only
Adult Oligodendroglioma Oligodendroglioma BEFREE 22992787
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 17610521
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma LHGDN 17610521
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 17610521, 21339190 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15583422, 19270820, 26398721, 28408326
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 19270820, 32857809 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26398721 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34511602 Inhibit
★☆☆☆☆
Found in Text Mining only