Gene Gene information from NCBI Gene database.
Entrez ID 51705
Gene name Endomucin
Gene symbol EMCN
Synonyms (NCBI Gene)
EMCN2MUC14
Chromosome 4
Chromosome location 4q24
Summary EMCN is a mucin-like sialoglycoprotein that interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix (Kinoshita et al., 2001 [PubMed 11418125]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
411
miRTarBase ID miRNA Experiments Reference
MIRT019151 hsa-miR-335-5p Microarray 18185580
MIRT711180 hsa-miR-3183 HITS-CLIP 19536157
MIRT711179 hsa-miR-4723-3p HITS-CLIP 19536157
MIRT711178 hsa-miR-6769b-3p HITS-CLIP 19536157
MIRT636583 hsa-miR-1248 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IEA
GO:0016020 Component Membrane IEA
GO:0061484 Process Hematopoietic stem cell homeostasis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608350 16041 ENSG00000164035
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULC0
Protein name Endomucin (Endomucin-2) (Gastric cancer antigen Ga34) (Mucin-14) (MUC-14)
Protein function Endothelial sialomucin, also called endomucin or mucin-like sialoglycoprotein, which interferes with the assembly of focal adhesion complexes and inhibits interaction between cells and the extracellular matrix.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07010 Endomucin 1 261 Endomucin Family
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, kidney and lung. {ECO:0000269|PubMed:11418125, ECO:0000269|PubMed:12485444}.
Sequence
Sequence length 261
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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
APPENDICITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS 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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 15996926
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 15996926
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34828282, 37551622 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 32644941 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 35624190 Associate
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 15996926
★☆☆☆☆
Found in Text Mining only
Dermatitis, Atopic Dermatitis BEFREE 12485444
★☆☆☆☆
Found in Text Mining only
Dermatologic disorders Dermatologic Disorders BEFREE 12485444
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 31545913
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 31545913
★☆☆☆☆
Found in Text Mining only