Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55040
Gene name Gene Name - the full gene name approved by the HGNC.
Epsin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EPN3
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.33
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT967126 hsa-miR-1197 CLIP-seq
MIRT967127 hsa-miR-1205 CLIP-seq
MIRT967128 hsa-miR-1224-5p CLIP-seq
MIRT967129 hsa-miR-1245 CLIP-seq
MIRT967130 hsa-miR-1825 CLIP-seq
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 20709745
GO:0005543 Function Phospholipid binding IBA 21873635
GO:0005634 Component Nucleus IDA 11359770
GO:0005654 Component Nucleoplasm IDA
GO:0005768 Component Endosome IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607264 18235 ENSG00000049283
Protein
UniProt ID Q9H201
Protein name Epsin-3 (EPS-15-interacting protein 3)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01417 ENTH 17 140 ENTH domain Domain
PF02809 UIM 209 225 Ubiquitin interaction motif Motif
PF02809 UIM 236 252 Ubiquitin interaction motif Motif
Tissue specificity TISSUE SPECIFICITY: Detected in migrating keratinocytes from wounded skin, but not in differentiating keratinocytes or in normal skin. Detected in chronic wounds, basal cell carcinoma and ulcerative colitis. {ECO:0000269|PubMed:11359770}.
Sequence
MTTSALRRQVKNIVHNYSEAEIKVREATSNDPWGPPSSLMSEIADLTFNTVAFTEVMGML
WRRLNDSGKNWRHVYKALTLLDYLLKTGSERVAHQCRENLYTIQTLKDFQYIDRDGKDQG
VNVREKVKQVMALLKDEERL
RQERTHALKTKERMALEGIGIGSGQLGFSRRYGEDYSRSR
GSPSSYNSSSSSPRYTSDLEQARPQTSGEEELQLQLALAMSREEAEKPVPPASHRDEDLQ
LQLALRLSRQEH
EKEVRSWQGDGSPMANGAGAVVHHQRDREPEREERKEEEKLKTSQSSI
LDLADIFVPALAPPSTHCSADPWDIPGFRPNTEASGSSWGPSADPWSPIPSGTVLSRSQP
WDLTPMLSSSEPWGRTPVLPAGPPTTDPWALNSPHHKLPSTGADPWGASLETSDTPGGAS
TFDPFAKPPESTETKEGLEQALPSGKPSSPVELDLFGDPSPSSKQNGTKEPDALDLGILG
EALTQPSKEARACRTPESFLGPSASSLVNLDSLVKAPQVAKTRNPFLTGLSAPSPTNPFG
AGEPGRPTLNQMRTGSPALGLAGGPVGAPLGSMTYSASLPLPLSSVPAGLTLPASVSVFP
QAGAFAPQPLLPTPSSAGPRPPPPQTGTNPFL
Sequence length 632
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Endocytosis  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Heart failure Heart Failure, Diastolic 29556499 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 27926932, 32541686, 34779498
Carcinogenesis Associate 28152424
Carcinoma Squamous Cell Associate 27765924
Gastritis Inhibit 28152424
Helicobacter Infections Inhibit 28152424
Hereditary Breast and Ovarian Cancer Syndrome Associate 32541686
Inflammation Inhibit 28152424
Neoplasms Associate 27926932
Stomach Neoplasms Inhibit 28152424