EPN2 (epsin 2) - Rat Genome Database

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Gene: EPN2 (epsin 2) Homo sapiens
Analyze
Symbol: EPN2
Name: epsin 2
RGD ID: 1351510
HGNC Page HGNC
Description: Enables cadherin binding activity. Involved in negative regulation of sprouting angiogenesis; negative regulation of vascular endothelial growth factor receptor signaling pathway; and positive regulation of Notch signaling pathway. Located in intracellular membrane-bounded organelle.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: EHB21; EPS-15-interacting protein 2; Eps15 binding protein; epsin-2; KIAA1065
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC009831.2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1719,215,615 - 19,336,715 (+)EnsemblGRCh38hg38GRCh38
GRCh381719,237,366 - 19,336,715 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371719,140,690 - 19,240,028 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361719,081,283 - 19,180,621 (+)NCBINCBI36hg18NCBI36
Build 341719,081,302 - 19,180,620NCBI
Celera1716,598,294 - 16,653,109 (+)NCBI
Cytogenetic Map17p11.2NCBI
HuRef1718,520,401 - 18,619,785 (+)NCBIHuRef
CHM1_11719,149,312 - 19,248,777 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:9303539   PMID:9813051   PMID:10470851   PMID:12353027   PMID:12477932   PMID:12750376   PMID:14702039   PMID:15231748   PMID:15324660   PMID:15345747   PMID:16344560   PMID:17081983  
PMID:18199683   PMID:19285159   PMID:20379614   PMID:20709745   PMID:21163940   PMID:21873635   PMID:22174317   PMID:22558309   PMID:25468996   PMID:25871009   PMID:26186194   PMID:26496610  
PMID:26638075   PMID:27173435   PMID:27578003   PMID:28190767   PMID:28514442   PMID:28717225   PMID:29395067   PMID:29467281   PMID:29509190   PMID:29568061   PMID:30194290   PMID:30639242  
PMID:31280863   PMID:31527615   PMID:31699778   PMID:31732153   PMID:32296183   PMID:33845483   PMID:34079125  


Genomics

Comparative Map Data
EPN2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1719,215,615 - 19,336,715 (+)EnsemblGRCh38hg38GRCh38
GRCh381719,237,366 - 19,336,715 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371719,140,690 - 19,240,028 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361719,081,283 - 19,180,621 (+)NCBINCBI36hg18NCBI36
Build 341719,081,302 - 19,180,620NCBI
Celera1716,598,294 - 16,653,109 (+)NCBI
Cytogenetic Map17p11.2NCBI
HuRef1718,520,401 - 18,619,785 (+)NCBIHuRef
CHM1_11719,149,312 - 19,248,777 (+)NCBICHM1_1
Epn2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391161,406,709 - 61,470,560 (-)NCBIGRCm39mm39
GRCm39 Ensembl1161,408,075 - 61,470,513 (-)Ensembl
GRCm381161,515,883 - 61,579,717 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1161,517,249 - 61,579,687 (-)EnsemblGRCm38mm10GRCm38
MGSCv371161,330,751 - 61,393,153 (-)NCBIGRCm37mm9NCBIm37
MGSCv361161,947,228 - 62,009,626 (-)NCBImm8
MGSCv361161,333,444 - 61,395,846 (-)NCBImm8
Cytogenetic Map11B2NCBI
Epn2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21046,197,785 - 46,259,673 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1046,197,785 - 46,259,642 (-)Ensembl
Rnor_6.01047,795,496 - 47,857,373 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1047,795,524 - 47,857,326 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01047,567,990 - 47,630,470 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41047,677,508 - 47,739,193 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11047,692,479 - 47,719,900 (-)NCBI
Celera1045,449,426 - 45,511,171 (-)NCBICelera
Cytogenetic Map10q22NCBI
Epn2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955467419,289 - 506,092 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955467419,342 - 505,909 (-)NCBIChiLan1.0ChiLan1.0
EPN2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11736,942,381 - 37,038,509 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1736,942,381 - 37,038,509 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01731,777,430 - 31,874,469 (-)NCBIMhudiblu_PPA_v0panPan3
EPN2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1540,871,157 - 40,951,772 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl540,872,006 - 40,919,416 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha541,013,217 - 41,097,323 (-)NCBI
ROS_Cfam_1.0540,979,692 - 41,063,821 (-)NCBI
UMICH_Zoey_3.1540,948,008 - 41,032,083 (-)NCBI
UNSW_CanFamBas_1.0540,894,780 - 40,978,874 (-)NCBI
UU_Cfam_GSD_1.0541,086,888 - 41,170,974 (-)NCBI
Epn2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560260,082,613 - 60,169,915 (+)NCBI
SpeTri2.0NW_004936881417,348 - 504,650 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EPN2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1260,171,918 - 60,234,199 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11260,171,916 - 60,249,539 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
EPN2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11617,820,896 - 17,919,374 (+)NCBI
ChlSab1.1 Ensembl1617,864,423 - 17,920,426 (+)Ensembl
Vero_WHO_p1.0NW_0236660592,931,751 - 3,030,618 (-)NCBI
Epn2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248495,520,279 - 5,632,152 (+)NCBI

Position Markers
RH76524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371719,145,201 - 19,145,438UniSTSGRCh37
Build 361719,085,794 - 19,086,031RGDNCBI36
Celera1716,557,823 - 16,558,060RGD
Cytogenetic Map17p11.2UniSTS
HuRef1718,524,912 - 18,525,149UniSTS
EPN2__7600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371719,237,554 - 19,238,465UniSTSGRCh37
Build 361719,178,147 - 19,179,058RGDNCBI36
Celera1716,650,635 - 16,651,546RGD
HuRef1718,617,311 - 18,618,222UniSTS
D17S1768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371719,238,281 - 19,238,398UniSTSGRCh37
Build 361719,178,874 - 19,178,991RGDNCBI36
Celera1716,651,362 - 16,651,479RGD
Cytogenetic Map17p11.2UniSTS
HuRef1718,618,038 - 18,618,155UniSTS
GeneMap99-GB4 RH Map17108.89UniSTS
STS-W72824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371719,239,811 - 19,239,985UniSTSGRCh37
Build 361719,180,404 - 19,180,578RGDNCBI36
Celera1716,652,892 - 16,653,066RGD
Cytogenetic Map17p11.2UniSTS
HuRef1718,619,568 - 18,619,742UniSTS
GeneMap99-GB4 RH Map17108.89UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9096
Count of miRNA genes:1320
Interacting mature miRNAs:1741
Transcripts:ENST00000314728, ENST00000347697, ENST00000395618, ENST00000395620, ENST00000395626, ENST00000395628, ENST00000399085, ENST00000399086, ENST00000441293, ENST00000494192, ENST00000495155, ENST00000571254, ENST00000572627, ENST00000575595, ENST00000577195, ENST00000577244, ENST00000577692, ENST00000580579, ENST00000581024, ENST00000582015, ENST00000582234, ENST00000582659, ENST00000582969, ENST00000583197, ENST00000584150, ENST00000584633, ENST00000584707, ENST00000584954, ENST00000585097
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1679 1717 935 123 146 32 3458 1072 3488 146 1351 1435 103 942 2011 3
Low 754 1063 788 499 1561 432 897 1121 229 272 98 173 70 262 777 2
Below cutoff 1 207 1 230 2 13 1 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001102664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_148921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB028988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC106017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA220261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC316524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000314728   ⟹   ENSP00000320543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,341 - 19,336,715 (+)Ensembl
RefSeq Acc Id: ENST00000347697   ⟹   ENSP00000261495
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,377 - 19,336,715 (+)Ensembl
RefSeq Acc Id: ENST00000395618   ⟹   ENSP00000378980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,396 - 19,335,174 (+)Ensembl
RefSeq Acc Id: ENST00000395620   ⟹   ENSP00000378982
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,281,955 - 19,335,194 (+)Ensembl
RefSeq Acc Id: ENST00000395626   ⟹   ENSP00000378988
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,282,979 - 19,336,715 (+)Ensembl
RefSeq Acc Id: ENST00000395628   ⟹   ENSP00000378990
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,397 - 19,329,636 (+)Ensembl
RefSeq Acc Id: ENST00000441293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,088 - 19,274,388 (+)Ensembl
RefSeq Acc Id: ENST00000494192   ⟹   ENSP00000460193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,416 - 19,332,068 (+)Ensembl
RefSeq Acc Id: ENST00000495155
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,281,955 - 19,313,734 (+)Ensembl
RefSeq Acc Id: ENST00000571254   ⟹   ENSP00000459542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,283,047 - 19,334,330 (+)Ensembl
RefSeq Acc Id: ENST00000572627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,309,974 - 19,330,676 (+)Ensembl
RefSeq Acc Id: ENST00000575595   ⟹   ENSP00000459678
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,416 - 19,334,490 (+)Ensembl
RefSeq Acc Id: ENST00000577195   ⟹   ENSP00000462392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,257,920 - 19,283,306 (+)Ensembl
RefSeq Acc Id: ENST00000577244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,429 - 19,283,005 (+)Ensembl
RefSeq Acc Id: ENST00000577692   ⟹   ENSP00000463627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,396 - 19,283,404 (+)Ensembl
RefSeq Acc Id: ENST00000580579   ⟹   ENSP00000463769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,396 - 19,328,762 (+)Ensembl
RefSeq Acc Id: ENST00000581024   ⟹   ENSP00000462958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,419 - 19,283,233 (+)Ensembl
RefSeq Acc Id: ENST00000582015   ⟹   ENSP00000462465
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,215,615 - 19,283,217 (+)Ensembl
RefSeq Acc Id: ENST00000582234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,416 - 19,283,091 (+)Ensembl
RefSeq Acc Id: ENST00000582659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,396 - 19,274,318 (+)Ensembl
RefSeq Acc Id: ENST00000582969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,497 - 19,283,100 (+)Ensembl
RefSeq Acc Id: ENST00000583197   ⟹   ENSP00000463141
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,396 - 19,283,185 (+)Ensembl
RefSeq Acc Id: ENST00000584150   ⟹   ENSP00000462606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,248,394 - 19,283,180 (+)Ensembl
RefSeq Acc Id: ENST00000584633   ⟹   ENSP00000462426
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,237,076 - 19,283,346 (+)Ensembl
RefSeq Acc Id: ENST00000584707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,221,448 - 19,283,238 (+)Ensembl
RefSeq Acc Id: ENST00000584954
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,329,082 - 19,329,616 (+)Ensembl
RefSeq Acc Id: ENST00000585097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1719,312,912 - 19,331,973 (+)Ensembl
RefSeq Acc Id: NM_001102664   ⟹   NP_001096134
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381719,237,366 - 19,336,715 (+)NCBI
GRCh371719,140,690 - 19,240,028 (+)RGD
Build 361719,081,283 - 19,180,621 (+)NCBI Archive
Celera1716,598,294 - 16,653,109 (+)RGD
HuRef1718,520,401 - 18,619,785 (+)ENTREZGENE
CHM1_11719,149,312 - 19,248,777 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014964   ⟹   NP_055779
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381719,237,366 - 19,336,715 (+)NCBI
GRCh371719,140,690 - 19,240,028 (+)RGD
Build 361719,081,283 - 19,180,621 (+)NCBI Archive
Celera1716,598,294 - 16,653,109 (+)RGD
HuRef1718,520,401 - 18,619,785 (+)ENTREZGENE
CHM1_11719,149,312 - 19,248,777 (+)NCBI
Sequence:
RefSeq Acc Id: NM_148921   ⟹   NP_683723
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381719,237,366 - 19,336,715 (+)NCBI
GRCh371719,140,690 - 19,240,028 (+)RGD
Build 361719,081,283 - 19,180,621 (+)NCBI Archive
Celera1716,598,294 - 16,653,109 (+)RGD
HuRef1718,520,401 - 18,619,785 (+)ENTREZGENE
CHM1_11719,149,312 - 19,248,777 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055779   ⟸   NM_014964
- Peptide Label: isoform b
- UniProtKB: O95208 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_683723   ⟸   NM_148921
- Peptide Label: isoform a
- UniProtKB: O95208 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001096134   ⟸   NM_001102664
- Peptide Label: isoform c
- UniProtKB: O95208 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000463769   ⟸   ENST00000580579
RefSeq Acc Id: ENSP00000462958   ⟸   ENST00000581024
RefSeq Acc Id: ENSP00000462465   ⟸   ENST00000582015
RefSeq Acc Id: ENSP00000463141   ⟸   ENST00000583197
RefSeq Acc Id: ENSP00000261495   ⟸   ENST00000347697
RefSeq Acc Id: ENSP00000462606   ⟸   ENST00000584150
RefSeq Acc Id: ENSP00000462426   ⟸   ENST00000584633
RefSeq Acc Id: ENSP00000459542   ⟸   ENST00000571254
RefSeq Acc Id: ENSP00000460193   ⟸   ENST00000494192
RefSeq Acc Id: ENSP00000459678   ⟸   ENST00000575595
RefSeq Acc Id: ENSP00000462392   ⟸   ENST00000577195
RefSeq Acc Id: ENSP00000463627   ⟸   ENST00000577692
RefSeq Acc Id: ENSP00000320543   ⟸   ENST00000314728
RefSeq Acc Id: ENSP00000378980   ⟸   ENST00000395618
RefSeq Acc Id: ENSP00000378990   ⟸   ENST00000395628
RefSeq Acc Id: ENSP00000378988   ⟸   ENST00000395626
RefSeq Acc Id: ENSP00000378982   ⟸   ENST00000395620
Protein Domains
ENTH   UIM

Promoters
RGD ID:6793988
Promoter ID:HG_KWN:25347
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000395623,   ENST00000395628,   NM_001102664,   NM_014964,   NM_148921,   UC002GVC.2,   UC010CQL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361719,081,106 - 19,081,606 (+)MPROMDB
RGD ID:7234251
Promoter ID:EPDNEW_H22871
Type:initiation region
Name:EPN2_1
Description:epsin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22869  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381719,237,398 - 19,237,458EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 copy number loss See cases [RCV000050602] Chr17:15898032..20620700 [GRCh38]
Chr17:15801346..20524013 [GRCh37]
Chr17:15742071..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3 copy number gain See cases [RCV000050622] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1 copy number loss See cases [RCV000050624] Chr17:16879232..20390725 [GRCh38]
Chr17:16782546..20294038 [GRCh37]
Chr17:16723271..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 copy number gain See cases [RCV000051852] Chr17:15259164..20925299 [GRCh38]
Chr17:15162481..20828612 [GRCh37]
Chr17:15103206..20769204 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3 copy number gain See cases [RCV000051853] Chr17:15897832..20620841 [GRCh38]
Chr17:15801146..20524154 [GRCh37]
Chr17:15741871..20464746 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3 copy number gain See cases [RCV000051876] Chr17:16836827..20340442 [GRCh38]
Chr17:16740141..20243755 [GRCh37]
Chr17:16680866..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3 copy number gain See cases [RCV000051855] Chr17:16656168..20390725 [GRCh38]
Chr17:16559482..20294038 [GRCh37]
Chr17:16500207..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3 copy number gain See cases [RCV000051877] Chr17:16836827..20504849 [GRCh38]
Chr17:16740141..20408162 [GRCh37]
Chr17:16680866..20348754 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3 copy number gain See cases [RCV000051879] Chr17:16919369..20289856 [GRCh38]
Chr17:16822683..20193169 [GRCh37]
Chr17:16763408..20133761 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3 copy number gain See cases [RCV000051858] Chr17:16692462..20390725 [GRCh38]
Chr17:16595776..20294038 [GRCh37]
Chr17:16536501..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3 copy number gain See cases [RCV000051860] Chr17:16713514..20582527 [GRCh38]
Chr17:16616828..20485840 [GRCh37]
Chr17:16557553..20426432 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3 copy number gain See cases [RCV000051871] Chr17:16713515..20340442 [GRCh38]
Chr17:16616829..20243755 [GRCh37]
Chr17:16557554..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 copy number gain See cases [RCV000051849] Chr17:15234685..20620700 [GRCh38]
Chr17:15138002..20524013 [GRCh37]
Chr17:15078727..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3 copy number gain See cases [RCV000051872] Chr17:16760817..20429770 [GRCh38]
Chr17:16664131..20333083 [GRCh37]
Chr17:16604856..20273675 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3 copy number gain See cases [RCV000051873] Chr17:16760818..20504849 [GRCh38]
Chr17:16664132..20408162 [GRCh37]
Chr17:16604857..20348754 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1 copy number loss See cases [RCV000054330] Chr17:16060129..20620841 [GRCh38]
Chr17:15963443..20524154 [GRCh37]
Chr17:15904168..20464746 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1 copy number loss See cases [RCV000054337] Chr17:16760818..20390725 [GRCh38]
Chr17:16664132..20294038 [GRCh37]
Chr17:16604857..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3 copy number gain See cases [RCV000054008] Chr17:18828089..20467764 [GRCh38]
Chr17:18731402..20371077 [GRCh37]
Chr17:18672127..20311669 [NCBI36]
Chr17:17p11.2
uncertain significance
GRCh38/hg38 17p11.2(chr17:19070690-21619442)x3 copy number gain See cases [RCV000054009] Chr17:19070690..21619442 [GRCh38]
Chr17:18974003..21522709 [GRCh37]
Chr17:18914728..21463302 [NCBI36]
Chr17:17p11.2
uncertain significance
GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1 copy number loss See cases [RCV000054355] Chr17:16836827..20465067 [GRCh38]
Chr17:16740141..20368380 [GRCh37]
Chr17:16680866..20308972 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1 copy number loss See cases [RCV000054356] Chr17:16858444..20340442 [GRCh38]
Chr17:16761758..20243755 [GRCh37]
Chr17:16702483..20184347 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:19239860-21530183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054010]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054010]|See cases [RCV000054010] Chr17:19239860..21530183 [GRCh38]
Chr17:19143173..21433444 [GRCh37]
Chr17:19083766..21374037 [NCBI36]
Chr17:17p11.2
uncertain significance
GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1 copy number loss See cases [RCV000054357] Chr17:16858444..20465067 [GRCh38]
Chr17:16761758..20368380 [GRCh37]
Chr17:16702483..20308972 [NCBI36]
Chr17:17p11.2
pathogenic
NM_014964.4(EPN2):c.9T>C (p.Thr3=) single nucleotide variant Malignant melanoma [RCV000063163] Chr17:19283128 [GRCh38]
Chr17:19186441 [GRCh37]
Chr17:19127034 [NCBI36]
Chr17:17p11.2
not provided
NM_001102664.1(EPN2):c.-90+11281T>C single nucleotide variant Lung cancer [RCV000100377] Chr17:19248812 [GRCh38]
Chr17:19152125 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh38/hg38 17p11.2(chr17:18872617-20316151)x1 copy number loss See cases [RCV000133724] Chr17:18872617..20316151 [GRCh38]
Chr17:18775930..20219464 [GRCh37]
Chr17:18716655..20160056 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3 copy number gain See cases [RCV000133695] Chr17:16879232..20316151 [GRCh38]
Chr17:16782546..20219464 [GRCh37]
Chr17:16723271..20160056 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3 copy number gain See cases [RCV000134467] Chr17:16854250..20492169 [GRCh38]
Chr17:16757564..20395482 [GRCh37]
Chr17:16698289..20336074 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1 copy number loss See cases [RCV000135874] Chr17:17331511..20022528 [GRCh38]
Chr17:17234825..19925841 [GRCh37]
Chr17:17175550..19866433 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1 copy number loss See cases [RCV000135996] Chr17:16879233..20390697 [GRCh38]
Chr17:16782547..20294010 [GRCh37]
Chr17:16723272..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3 copy number gain See cases [RCV000135997] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1 copy number loss See cases [RCV000135998] Chr17:16734558..20390697 [GRCh38]
Chr17:16637872..20294010 [GRCh37]
Chr17:16578597..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1 copy number loss See cases [RCV000136906] Chr17:16734588..20390725 [GRCh38]
Chr17:16637902..20294038 [GRCh37]
Chr17:16578627..20234630 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1 copy number loss See cases [RCV000136951] Chr17:16734588..20316151 [GRCh38]
Chr17:16637902..20219464 [GRCh37]
Chr17:16578627..20160056 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:18859289-20316151)x1 copy number loss See cases [RCV000137991] Chr17:18859289..20316151 [GRCh38]
Chr17:18762602..20219464 [GRCh37]
Chr17:18703327..20160056 [NCBI36]
Chr17:17p11.2
likely pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1 copy number loss See cases [RCV000137974] Chr17:16699816..20390725 [GRCh38]
Chr17:16603130..20294038 [GRCh37]
Chr17:16543855..20234630 [NCBI36]
Chr17:17p11.2
pathogenic|likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3 copy number gain See cases [RCV000138255] Chr17:16854250..20492214 [GRCh38]
Chr17:16757564..20395527 [GRCh37]
Chr17:16698289..20336119 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1 copy number loss See cases [RCV000139239] Chr17:16989087..20370816 [GRCh38]
Chr17:16892401..20274129 [GRCh37]
Chr17:16833126..20214721 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3 copy number gain See cases [RCV000139188] Chr17:16854250..20560048 [GRCh38]
Chr17:16757564..20463361 [GRCh37]
Chr17:16698289..20403953 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3 copy number gain See cases [RCV000140217] Chr17:16699694..20530646 [GRCh38]
Chr17:16603008..20433959 [GRCh37]
Chr17:16543733..20374551 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 copy number loss See cases [RCV000139510] Chr17:15883037..20620700 [GRCh38]
Chr17:15786351..20524013 [GRCh37]
Chr17:15727076..20464605 [NCBI36]
Chr17:17p12-11.2
pathogenic|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1 copy number loss See cases [RCV000139558] Chr17:16656162..20390697 [GRCh38]
Chr17:16559476..20294010 [GRCh37]
Chr17:16500201..20234602 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1 copy number loss See cases [RCV000141105] Chr17:17018951..20148630 [GRCh38]
Chr17:16922265..20051943 [GRCh37]
Chr17:16862990..19992535 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3 copy number gain See cases [RCV000140852] Chr17:16699816..20492214 [GRCh38]
Chr17:16603130..20395527 [GRCh37]
Chr17:16543855..20336119 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1 copy number loss See cases [RCV000141975] Chr17:16838097..20436415 [GRCh38]
Chr17:16741411..20339728 [GRCh37]
Chr17:16682136..20280320 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3 copy number gain See cases [RCV000142075] Chr17:16858500..20570955 [GRCh38]
Chr17:16761814..20474268 [GRCh37]
Chr17:16702539..20414860 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3 copy number gain See cases [RCV000143381] Chr17:16696708..20492860 [GRCh38]
Chr17:16600022..20396173 [GRCh37]
Chr17:16540747..20336765 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3 copy number gain See cases [RCV000143417] Chr17:16718415..20546210 [GRCh38]
Chr17:16621729..20449523 [GRCh37]
Chr17:16562454..20390115 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1 copy number loss See cases [RCV000143210] Chr17:16858500..20559337 [GRCh38]
Chr17:16761814..20462650 [GRCh37]
Chr17:16702539..20403242 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 copy number loss See cases [RCV000143177] Chr17:15883037..20658018 [GRCh38]
Chr17:15786351..20561331 [GRCh37]
Chr17:15727076..20501923 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1 copy number loss See cases [RCV000143181] Chr17:16699816..20428292 [GRCh38]
Chr17:16603130..20331605 [GRCh37]
Chr17:16543855..20272197 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3 copy number gain See cases [RCV000143715] Chr17:16426633..20998588 [GRCh38]
Chr17:16329947..20901901 [GRCh37]
Chr17:16270672..20842493 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 copy number loss See cases [RCV000143650] Chr17:15850859..20649235 [GRCh38]
Chr17:15754173..20552548 [GRCh37]
Chr17:15694898..20493140 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1 copy number loss See cases [RCV000143596] Chr17:16853120..20436482 [GRCh38]
Chr17:16756434..20339795 [GRCh37]
Chr17:16697159..20280387 [NCBI36]
Chr17:17p11.2
pathogenic
GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 copy number loss See cases [RCV000143485] Chr17:15729893..20510251 [GRCh38]
Chr17:15633207..20413564 [GRCh37]
Chr17:15573932..20354156 [NCBI36]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1 copy number loss See cases [RCV000449069] Chr17:16603130..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3 copy number gain See cases [RCV000240104] Chr17:15767020..20261250 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1 copy number loss See cases [RCV000239910] Chr17:17053390..19893098 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1 copy number loss See cases [RCV000240274] Chr17:16654302..20261250 [GRCh37]
Chr17:17p11.2
pathogenic
arr[hg19]17p11.2(16,757,111-20,219,651)x3 duplication Potocki-Lupski syndrome [RCV000591005] Chr17:16757111..20219651 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3 copy number gain See cases [RCV000449384] Chr17:16740141..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 copy number loss See cases [RCV000447345] Chr17:10771948..21510992 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1 copy number loss See cases [RCV000446498] Chr17:15745315..20261191 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20304295)x1 copy number loss See cases [RCV000446300] Chr17:16761814..20304295 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1 copy number loss See cases [RCV000446465] Chr17:16637902..20261250 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741771-20430791)x3 copy number gain See cases [RCV000445753] Chr17:16741771..20430791 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1 copy number loss See cases [RCV000448145] Chr17:16757564..20261191 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:18465463-19149350)x1 copy number loss See cases [RCV000448508] Chr17:18465463..19149350 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16741411-20304154)x1 copy number loss See cases [RCV000448636] Chr17:16741411..20304154 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20449523)x1 copy number loss See cases [RCV000448404] Chr17:16741411..20449523 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20408379)x1 copy number loss See cases [RCV000447955] Chr17:16741411..20408379 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20462723)x1 copy number loss See cases [RCV000448752] Chr17:16761814..20462723 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20433502)x3 copy number gain See cases [RCV000448097] Chr17:16772264..20433502 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1 copy number loss See cases [RCV000510506] Chr17:16745600..20396173 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1 copy number loss See cases [RCV000510254] Chr17:17200426..21900910 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3 copy number gain See cases [RCV000510267] Chr17:16761814..20339795 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1 copy number loss See cases [RCV000511412] Chr17:16727264..20413564 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1 copy number loss See cases [RCV000511915] Chr17:16772264..20297091 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1 copy number loss See cases [RCV000511460] Chr17:16741411..20410218 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3 copy number gain See cases [RCV000511433] Chr17:16738161..20338182 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1 copy number loss See cases [RCV000511111] Chr17:16727264..20395889 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:19144143-20231379)x1 copy number loss See cases [RCV000510808] Chr17:19144143..20231379 [GRCh37]
Chr17:17p11.2
likely pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3 copy number gain See cases [RCV000511042] Chr17:16651292..20437532 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16842163-20217777) copy number gain Delayed speech and language development [RCV000626511] Chr17:16842163..20217777 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16782546-20294038) copy number loss Sleep disturbance [RCV000626510] Chr17:16782546..20294038 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3 copy number gain See cases [RCV000512356] Chr17:16591260..20473937 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1 copy number loss See cases [RCV000512446] Chr17:16741411..20489023 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3 copy number gain See cases [RCV000512434] Chr17:19144143..20231379 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1 copy number loss not provided [RCV000683897] Chr17:16727264..20310241 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3 copy number gain not provided [RCV000683900] Chr17:16761814..20292897 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1 copy number loss not provided [RCV000683901] Chr17:16999980..20298979 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1 copy number loss not provided [RCV000683902] Chr17:17021607..20015978 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:18743223-20246715)x3 copy number gain not provided [RCV000683907] Chr17:18743223..20246715 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:18800138-19238772)x3 copy number gain not provided [RCV000683908] Chr17:18800138..19238772 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1 copy number loss not provided [RCV000683898] Chr17:16741411..20430791 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p11.2(chr17:16768248-20391959)x1 copy number loss not provided [RCV000739423] Chr17:16768248..20391959 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:18596126-19180190)x3 copy number gain not provided [RCV000739427] Chr17:18596126..19180190 [GRCh37]
Chr17:17p11.2
benign
GRCh37/hg19 17p11.2(chr17:18761109-19204432)x3 copy number gain not provided [RCV000739429] Chr17:18761109..19204432 [GRCh37]
Chr17:17p11.2
benign
GRCh37/hg19 17p11.2(chr17:18815547-19143510)x3 copy number gain not provided [RCV000739431] Chr17:18815547..19143510 [GRCh37]
Chr17:17p11.2
benign
Single allele duplication Autistic disorder of childhood onset [RCV000754201] Chr17:16770855..20422847 [GRCh38]
Chr17:17p11.2
pathogenic
NC_000017.11:g.(?_16770855)_(20585863_?)del deletion Autistic disorder of childhood onset [RCV000754202] Chr17:16770855..20585863 [GRCh38]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16660721-20417975)x1 copy number loss not provided [RCV000739417] Chr17:16660721..20417975 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:19100258-19180190)x3 copy number gain not provided [RCV000751953] Chr17:19100258..19180190 [GRCh37]
Chr17:17p11.2
benign
GRCh37/hg19 17p12-11.2(chr17:15796140-20331131)x3 copy number gain not provided [RCV000751941] Chr17:15796140..20331131 [GRCh37]
Chr17:17p12-11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16842991-20217316) copy number loss Smith-Magenis syndrome [RCV000767738] Chr17:16842991..20217316 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3 copy number gain not provided [RCV000848946] Chr17:19144143..20231379 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:18746987-20231379)x1 copy number loss not provided [RCV001259295] Chr17:18746987..20231379 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3 copy number gain not provided [RCV001259290] Chr17:16761814..20330062 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1 copy number loss not provided [RCV001259291] Chr17:16763370..20395611 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:18509439-19143976)x3 copy number gain not provided [RCV001259293] Chr17:18509439..19143976 [GRCh37]
Chr17:17p11.2
uncertain significance
GRCh37/hg19 17p11.2(chr17:17145361-20137943) copy number loss Smith-Magenis syndrome [RCV001352632] Chr17:17145361..20137943 [GRCh37]
Chr17:17p11.2
pathogenic
GRCh37/hg19 17p11.2(chr17:16601603-20063369) copy number gain Potocki-Lupski syndrome [RCV001352635] Chr17:16601603..20063369 [GRCh37]
Chr17:17p11.2
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18639 AgrOrtholog
COSMIC EPN2 COSMIC
Ensembl Genes ENSG00000072134 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261495 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000320543 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378980 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000378982 UniProtKB/Swiss-Prot
  ENSP00000378988 UniProtKB/TrEMBL
  ENSP00000378990 UniProtKB/TrEMBL
  ENSP00000459542 UniProtKB/TrEMBL
  ENSP00000459678 UniProtKB/TrEMBL
  ENSP00000460193 UniProtKB/TrEMBL
  ENSP00000462392 UniProtKB/TrEMBL
  ENSP00000462426 UniProtKB/TrEMBL
  ENSP00000462465 UniProtKB/TrEMBL
  ENSP00000462606 UniProtKB/TrEMBL
  ENSP00000462958 UniProtKB/TrEMBL
  ENSP00000463141 UniProtKB/TrEMBL
  ENSP00000463627 UniProtKB/TrEMBL
  ENSP00000463769 UniProtKB/TrEMBL
Ensembl Transcript ENST00000314728 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000347697 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395618 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395620 UniProtKB/Swiss-Prot
  ENST00000395626 UniProtKB/TrEMBL
  ENST00000395628 UniProtKB/TrEMBL
  ENST00000494192 UniProtKB/TrEMBL
  ENST00000571254 UniProtKB/TrEMBL
  ENST00000575595 UniProtKB/TrEMBL
  ENST00000577195 UniProtKB/TrEMBL
  ENST00000577692 UniProtKB/TrEMBL
  ENST00000580579 UniProtKB/TrEMBL
  ENST00000581024 UniProtKB/TrEMBL
  ENST00000582015 UniProtKB/TrEMBL
  ENST00000583197 UniProtKB/TrEMBL
  ENST00000584150 UniProtKB/TrEMBL
  ENST00000584633 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.90 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000072134 GTEx
HGNC ID HGNC:18639 ENTREZGENE
Human Proteome Map EPN2 Human Proteome Map
InterPro ENTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENTH_VHS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Epsin-2_metazoa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UIM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22905 UniProtKB/Swiss-Prot
NCBI Gene 22905 ENTREZGENE
OMIM 607263 OMIM
PANTHER PTHR12276:SF50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ENTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38615 PharmGKB
PROSITE ENTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ENTH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48464 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QYY1_HUMAN UniProtKB/TrEMBL
  E9PBC1_HUMAN UniProtKB/TrEMBL
  EPN2_HUMAN UniProtKB/Swiss-Prot
  F6PQP6_HUMAN UniProtKB/TrEMBL
  I3L2B2_HUMAN UniProtKB/TrEMBL
  I3L2H1_HUMAN UniProtKB/TrEMBL
  I3L356_HUMAN UniProtKB/TrEMBL
  J3KSA6_HUMAN UniProtKB/TrEMBL
  J3KSC7_HUMAN UniProtKB/TrEMBL
  J3KSF8_HUMAN UniProtKB/TrEMBL
  J3KSR0_HUMAN UniProtKB/TrEMBL
  J3KTF6_HUMAN UniProtKB/TrEMBL
  J3QKL8_HUMAN UniProtKB/TrEMBL
  J3QLN2_HUMAN UniProtKB/TrEMBL
  J3QQJ8_HUMAN UniProtKB/TrEMBL
  O95208 ENTREZGENE
  Q6NSL9_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8MTV8 UniProtKB/Swiss-Prot
  B3KRX8 UniProtKB/Swiss-Prot
  E9PBC2 UniProtKB/Swiss-Prot
  O95207 UniProtKB/Swiss-Prot
  Q52LD0 UniProtKB/Swiss-Prot
  Q9H7Z2 UniProtKB/Swiss-Prot
  Q9UPT7 UniProtKB/Swiss-Prot