Human Gene EPN2 (ENST00000314728.10_7) from GENCODE V47lift37
  Description: epsin 2, transcript variant 2 (from RefSeq NM_014964.5)
Gencode Transcript: ENST00000314728.10_7
Gencode Gene: ENSG00000072134.16_18
Transcript (Including UTRs)
   Position: hg19 chr17:19,140,679-19,240,028 Size: 99,350 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg19 chr17:19,186,433-19,237,567 Size: 51,135 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:19,140,679-19,240,028)mRNA (may differ from genome)Protein (641 aa)
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HGNCMGIOMIMPubMedReactomeUniProtKB
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-  Comments and Description Text from UniProtKB
  ID: EPN2_HUMAN
DESCRIPTION: RecName: Full=Epsin-2; AltName: Full=EPS-15-interacting protein 2;
FUNCTION: Plays a role in the formation of clathrin-coated invaginations and endocytosis.
SUBUNIT: Binds EPS15 (By similarity). Binds AP-2 and clathrin.
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasmic vesicle, clathrin- coated vesicle. Note=In punctate structures throughout the cell, associated with clathrin-coated vesicles, and particularly concentrated in the region of the Golgi complex.
TISSUE SPECIFICITY: Highest expression is found in brain. Detected at lower levels in lung and liver.
DOMAIN: The NPF repeat domain is involved in EPS15 binding.
DOMAIN: The DPW repeat domain is involved in AP-2 and clathrin binding.
PTM: Ubiquitinated (By similarity).
SIMILARITY: Belongs to the epsin family.
SIMILARITY: Contains 1 ENTH (epsin N-terminal homology) domain.
SIMILARITY: Contains 2 UIM (ubiquitin-interacting motif) repeats.
SEQUENCE CAUTION: Sequence=BAA83017.2; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.22 RPKM in Brain - Amygdala
Total median expression: 607.01 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -182.30459-0.397 Picture PostScript Text
3' UTR -850.302461-0.346 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008942 - ENTH_VHS
IPR013809 - Epsin-like_N
IPR001026 - Epsin_dom_N
IPR003903 - Ubiquitin-int_motif

Pfam Domains:
PF01417 - ENTH domain
PF02809 - Ubiquitin interaction motif
PF07651 - ANTH domain

SCOP Domains:
48464 - ENTH/VHS domain

ModBase Predicted Comparative 3D Structure on O95208
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008289 lipid binding
GO:0045296 cadherin binding

Biological Process:
GO:0006897 endocytosis
GO:0030948 negative regulation of vascular endothelial growth factor receptor signaling pathway
GO:0045747 positive regulation of Notch signaling pathway
GO:0061024 membrane organization
GO:1903671 negative regulation of sprouting angiogenesis

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0030128 clathrin coat of endocytic vesicle
GO:0030136 clathrin-coated vesicle
GO:0031410 cytoplasmic vesicle
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AK092366 - Homo sapiens cDNA FLJ35047 fis, clone OCBBF2017882, highly similar to Epsin-2.
AK024115 - Homo sapiens cDNA FLJ14053 fis, clone HEMBA1007174, highly similar to Homo sapiens epsin 2b mRNA.
BC070036 - Homo sapiens epsin 2, mRNA (cDNA clone IMAGE:5267248), complete cds.
AB028988 - Homo sapiens KIAA1065 mRNA for KIAA1065 protein.
AK298006 - Homo sapiens cDNA FLJ56853 complete cds, highly similar to Epsin-2.
AK295652 - Homo sapiens cDNA FLJ55786 complete cds, highly similar to Epsin-2.
AK307455 - Homo sapiens cDNA, FLJ97403.
BC015488 - Homo sapiens epsin 2, mRNA (cDNA clone IMAGE:3914814), with apparent retained intron.
JD466672 - Sequence 447696 from Patent EP1572962.
JD087664 - Sequence 68688 from Patent EP1572962.
JD496512 - Sequence 477536 from Patent EP1572962.
AK001996 - Homo sapiens cDNA FLJ11134 fis, clone PLACE1006385, highly similar to Homo sapiens epsin 2 (EPN2), transcript variant 1, mRNA.
AK001491 - Homo sapiens cDNA FLJ10629 fis, clone NT2RP2005620, highly similar to Epsin-2.
JD048558 - Sequence 29582 from Patent EP1572962.
BC093972 - Homo sapiens epsin 2, mRNA (cDNA clone MGC:121007 IMAGE:7939817), complete cds.
BC093974 - Homo sapiens epsin 2, mRNA (cDNA clone MGC:121009 IMAGE:7939819), complete cds.
BC143263 - Homo sapiens cDNA clone IMAGE:9051765, containing frame-shift errors.
BC143264 - Homo sapiens cDNA clone MGC:176783 IMAGE:9051766, complete cds.
JD368379 - Sequence 349403 from Patent EP1572962.
BC051793 - Homo sapiens epsin 2, mRNA (cDNA clone IMAGE:6187077), **** WARNING: chimeric clone ****.
AB463028 - Synthetic construct DNA, clone: pF1KA1065, Homo sapiens EPN2 gene for epsin 2, without stop codon, in Flexi system.
AF062084 - Homo sapiens epsin 2a mRNA, complete cds.
AF062085 - Homo sapiens epsin 2b mRNA, complete cds.
KJ904677 - Synthetic construct Homo sapiens clone ccsbBroadEn_14071 EPN2-like gene, encodes complete protein.
JD306592 - Sequence 287616 from Patent EP1572962.
JD158121 - Sequence 139145 from Patent EP1572962.
JD210428 - Sequence 191452 from Patent EP1572962.
JD191416 - Sequence 172440 from Patent EP1572962.
JD514240 - Sequence 495264 from Patent EP1572962.
JD364302 - Sequence 345326 from Patent EP1572962.
JD116240 - Sequence 97264 from Patent EP1572962.
JD431631 - Sequence 412655 from Patent EP1572962.
JD390263 - Sequence 371287 from Patent EP1572962.
JD194223 - Sequence 175247 from Patent EP1572962.
JD465143 - Sequence 446167 from Patent EP1572962.
JD302956 - Sequence 283980 from Patent EP1572962.
JD109641 - Sequence 90665 from Patent EP1572962.
JD171351 - Sequence 152375 from Patent EP1572962.
JD503758 - Sequence 484782 from Patent EP1572962.
JD283816 - Sequence 264840 from Patent EP1572962.
JD162248 - Sequence 143272 from Patent EP1572962.
JD309148 - Sequence 290172 from Patent EP1572962.
DQ589273 - Homo sapiens piRNA piR-56385, complete sequence.
JD083039 - Sequence 64063 from Patent EP1572962.
JD219612 - Sequence 200636 from Patent EP1572962.
JD276315 - Sequence 257339 from Patent EP1572962.
JD303651 - Sequence 284675 from Patent EP1572962.
JD284119 - Sequence 265143 from Patent EP1572962.
JD537233 - Sequence 518257 from Patent EP1572962.
JD465072 - Sequence 446096 from Patent EP1572962.
JD278504 - Sequence 259528 from Patent EP1572962.
JD428100 - Sequence 409124 from Patent EP1572962.
JD555722 - Sequence 536746 from Patent EP1572962.
JD481869 - Sequence 462893 from Patent EP1572962.
JD481870 - Sequence 462894 from Patent EP1572962.
JD207241 - Sequence 188265 from Patent EP1572962.
JD317467 - Sequence 298491 from Patent EP1572962.
JD270707 - Sequence 251731 from Patent EP1572962.
JD073977 - Sequence 55001 from Patent EP1572962.
JD046529 - Sequence 27553 from Patent EP1572962.
JD286253 - Sequence 267277 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O95208 (Reactome details) participates in the following event(s):

R-HSA-8866275 UBQLNs bind UIM-containing adaptor proteins
R-HSA-8866279 Epsin family proteins bind ubiquitinated cargo
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A8MTV8, B3KRX8, E9PBC2, ENST00000314728.1, ENST00000314728.2, ENST00000314728.3, ENST00000314728.4, ENST00000314728.5, ENST00000314728.6, ENST00000314728.7, ENST00000314728.8, ENST00000314728.9, EPN2_HUMAN, KIAA1065, NM_014964, O95207, O95208, Q52LD0, Q9H7Z2, Q9UPT7, uc317prt.1, uc317prt.2
UCSC ID: ENST00000314728.10_7
RefSeq Accession: NM_014964.5
Protein: O95208 (aka EPN2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.