Gene Gene information from NCBI Gene database.
Entrez ID 133418
Gene name Embigin
Gene symbol EMB
Synonyms (NCBI Gene)
GP70
Chromosome 5
Chromosome location 5q11.1
Summary This gene encodes a transmembrane glycoprotein that is a member of the immunoglobulin superfamily. The encoded protein may be involved in cell growth and development by mediating interactions between the cell and extracellular matrix. A pseudogene of this
miRNA miRNA information provided by mirtarbase database.
374
miRTarBase ID miRNA Experiments Reference
MIRT026174 hsa-miR-192-5p Microarray 19074876
MIRT047611 hsa-miR-10a-5p CLASH 23622248
MIRT043608 hsa-miR-151a-3p CLASH 23622248
MIRT658710 hsa-miR-8084 HITS-CLIP 23824327
MIRT658709 hsa-miR-1250-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 33961781
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane ISS
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615669 30465 ENSG00000170571
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PCB8
Protein name Embigin
Protein function Plays a role in the outgrowth of motoneurons and in the formation of neuromuscular junctions. Following muscle denervation, promotes nerve terminal sprouting and the formation of additional acetylcholine receptor clusters at synaptic sites witho
PDB 7YR5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00047 ig 71 156 Immunoglobulin domain Domain
PF07679 I-set 159 254 Immunoglobulin I-set domain Domain
Sequence
MRALPGLLEARARTPRLLLLQCLLAAARPSSADGSAPDSPFTSPPLREEIMANNFSLESH
NISLTEHSSMPVEKNITLERPSNVNLTCQFTTSGDLNAVNVTWKKDGEQLENNYLVSATG
STLYTQYRFTIINSKQMGSYSCFFREEKEQRGTFNF
KVPELHGKNKPLISYVGDSTVLTC
KCQNCFPLNWTWYSSNGSVKVPVGVQMNKYVINGTYANETKLKITQLLEEDGESYWCRAL
FQLGESEEHIELVV
LSYLVPLKPFLVIVAEVILLVATILLCEKYTQKKKKHSDEGKEFEQ
IEQLKSDDSNGIENNVPRHRKNESLGQ
Sequence length 327
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Proton-coupled monocarboxylate transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE 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
Anemia Anemia BEFREE 1849031
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26090721
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 26090721 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 26090721 Inhibit
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy BEFREE 29580630
★☆☆☆☆
Found in Text Mining only
Congestive heart failure Congestive Heart Failure BEFREE 29862463
★☆☆☆☆
Found in Text Mining only
Dermatitis, Allergic Contact Dermatitis CTD_human_DG 17374397
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Glomerulonephritis Glomerulonephritis BEFREE 15048718
★☆☆☆☆
Found in Text Mining only
Heart failure Heart Failure BEFREE 29862463
★☆☆☆☆
Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome Hereditary breast and ovarian cancer syndrome Pubtator 26090721 Inhibit
★☆☆☆☆
Found in Text Mining only