Gene Gene information from NCBI Gene database.
Entrez ID 2012
Gene name Epithelial membrane protein 1
Gene symbol EMP1
Synonyms (NCBI Gene)
CL-20EMP-1TMP
Chromosome 12
Chromosome location 12p13.1
miRNA miRNA information provided by mirtarbase database.
633
miRTarBase ID miRNA Experiments Reference
MIRT005075 hsa-miR-34a-5p MicroarrayNorthern blot 17540599
MIRT019100 hsa-miR-335-5p Microarray 18185580
MIRT019984 hsa-miR-375 Microarray 20215506
MIRT023169 hsa-miR-124-3p Microarray 18668037
MIRT437637 hsa-miR-152-3p MicroarrayqRT-PCR 22815788
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12107182, 25416956, 32296183
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 12107182
GO:0006915 Process Apoptotic process IDA 12107182
GO:0008544 Process Epidermis development TAS 7499420
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602333 3333 ENSG00000134531
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54849
Protein name Epithelial membrane protein 1 (EMP-1) (CL-20) (Protein B4B) (Tumor-associated membrane protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 1 151 PMP-22/EMP/MP20/Claudin family Family
Sequence
Sequence length 157
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Focal adhesion  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER Disgenet, GWAS catalog
Disgenet, 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
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 37629198 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 23978990 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arteriosclerosis Arteriosclerosis BEFREE 28811128
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30711257
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28811128
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 9615230
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20166743, 24272202, 24402572
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24402572, 32857809, 36936167, 38187400 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 33799364 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of larynx Laryngeal carcinoma BEFREE 27909719, 28779068
★☆☆☆☆
Found in Text Mining only