Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2012
Gene name Gene Name - the full gene name approved by the HGNC.
Epithelial membrane protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EMP1
Synonyms (NCBI Gene) Gene synonyms aliases
CL-20, EMP-1, TMP
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005075 hsa-miR-34a-5p Microarray, Northern 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 Microarray, qRT-PCR 22815788
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602333 3333 ENSG00000134531
Protein
UniProt ID 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental Depression Major depressive disorder N/A N/A GWAS
Neuroblastoma Neuroblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adrenal Gland Neoplasms Associate 37629198
Adrenocortical Carcinoma Associate 37629198
Alzheimer Disease Associate 23978990
Breast Neoplasms Associate 24402572, 32857809, 36936167, 38187400
Calcinosis Cutis Associate 35850179
Carcinogenesis Associate 33799364
Carcinoma Non Small Cell Lung Associate 33799364
Carcinoma Ovarian Epithelial Associate 34320033
Cholangiocarcinoma Inhibit 34569869
Colorectal Neoplasms Inhibit 24744589