DERL2 (derlin 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: DERL2 (derlin 2) Homo sapiens
Analyze
Symbol: DERL2
Name: derlin 2
RGD ID: 1344289
HGNC Page HGNC
Description: Enables signal recognition particle binding activity. Involved in several processes, including ERAD pathway; endoplasmic reticulum unfolded protein response; and negative regulation of retrograde protein transport, ER to cytosol. Located in endoplasmic reticulum. Is integral component of endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: carcinoma related; CGI-101; degradation in endoplasmic reticulum protein 2; Der1-like domain family, member 2; der1-like protein 2; derlin-2; DERtrin-2; F-LAN-1; F-LANa; FLANa
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100420648  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl175,471,254 - 5,486,811 (-)EnsemblGRCh38hg38GRCh38
GRCh38175,471,254 - 5,486,225 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37175,374,574 - 5,389,498 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36175,318,337 - 5,330,221 (-)NCBINCBI36hg18NCBI36
Build 34175,318,336 - 5,330,218NCBI
Celera175,393,985 - 5,405,873 (-)NCBI
Cytogenetic Map17p13.2NCBI
HuRef175,268,081 - 5,279,745 (-)NCBIHuRef
CHM1_1175,387,294 - 5,399,165 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8889548   PMID:10810093   PMID:11500051   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15215855   PMID:15489334   PMID:16186509   PMID:16449189   PMID:16449192   PMID:16449194  
PMID:16912321   PMID:17207965   PMID:17360537   PMID:18216283   PMID:19864457   PMID:19946888   PMID:20435896   PMID:21145461   PMID:21832065   PMID:21873635   PMID:21909096   PMID:22119785  
PMID:22174835   PMID:22810586   PMID:23097496   PMID:23867461   PMID:24366871   PMID:24594942   PMID:24623722   PMID:24807418   PMID:25416956   PMID:25660456   PMID:26107514   PMID:26186194  
PMID:26389662   PMID:26424800   PMID:26496610   PMID:26565908   PMID:26618866   PMID:26638075   PMID:26949739   PMID:28380382   PMID:28514442   PMID:29128334   PMID:29167172   PMID:29743537  
PMID:30833792   PMID:31091453   PMID:31182584   PMID:32296183   PMID:32694731   PMID:33144569   PMID:33980593  


Genomics

Comparative Map Data
DERL2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl175,471,254 - 5,486,811 (-)EnsemblGRCh38hg38GRCh38
GRCh38175,471,254 - 5,486,225 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37175,374,574 - 5,389,498 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36175,318,337 - 5,330,221 (-)NCBINCBI36hg18NCBI36
Build 34175,318,336 - 5,330,218NCBI
Celera175,393,985 - 5,405,873 (-)NCBI
Cytogenetic Map17p13.2NCBI
HuRef175,268,081 - 5,279,745 (-)NCBIHuRef
CHM1_1175,387,294 - 5,399,165 (-)NCBICHM1_1
Derl2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391170,898,266 - 70,910,667 (-)NCBIGRCm39mm39
GRCm39 Ensembl1170,897,990 - 70,910,667 (-)Ensembl
GRCm381171,007,440 - 71,019,841 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1171,007,164 - 71,019,841 (-)EnsemblGRCm38mm10GRCm38
MGSCv371170,820,947 - 70,832,765 (-)NCBIGRCm37mm9NCBIm37
MGSCv361170,823,640 - 70,835,458 (-)NCBImm8
Celera1178,561,860 - 78,573,678 (-)NCBICelera
Cytogenetic Map11B4NCBI
cM Map1143.21NCBI
Derl2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21055,727,764 - 55,739,462 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1055,727,643 - 55,739,518 (-)Ensembl
Rnor_6.01057,641,682 - 57,653,554 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1057,644,207 - 57,653,359 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01057,386,894 - 57,398,868 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1054,873,447 - 54,885,319 (-)NCBICelera
Cytogenetic Map10q24NCBI
Derl2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546710,825,341 - 10,837,328 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546710,824,922 - 10,837,408 (-)NCBIChiLan1.0ChiLan1.0
DERL2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1175,514,440 - 5,526,363 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl175,514,440 - 5,526,363 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0175,519,183 - 5,534,145 (-)NCBIMhudiblu_PPA_v0panPan3
DERL2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1531,319,660 - 31,330,846 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl531,319,717 - 31,330,841 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha531,457,816 - 31,468,997 (+)NCBI
ROS_Cfam_1.0531,424,427 - 31,435,599 (+)NCBI
UMICH_Zoey_3.1531,389,973 - 31,401,157 (+)NCBI
UNSW_CanFamBas_1.0531,348,892 - 31,360,075 (+)NCBI
UU_Cfam_GSD_1.0531,525,284 - 31,536,488 (+)NCBI
Derl2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560253,558,913 - 53,572,084 (-)NCBI
SpeTri2.0NW_0049366772,328,783 - 2,342,068 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DERL2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1251,507,996 - 51,524,793 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11251,508,138 - 51,524,799 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
DERL2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1164,882,296 - 4,897,799 (-)NCBI
ChlSab1.1 Ensembl164,881,876 - 4,898,078 (-)Ensembl
Vero_WHO_p1.0NW_02366605916,689,748 - 16,705,481 (+)NCBI
Derl2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247869,274,302 - 9,285,645 (-)NCBI

Position Markers
RH18361  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37175,377,730 - 5,377,876UniSTSGRCh37
Build 36175,318,454 - 5,318,600RGDNCBI36
Celera175,394,102 - 5,394,248RGD
Cytogenetic Map17p13.2UniSTS
HuRef175,268,198 - 5,268,344UniSTS
GeneMap99-GB4 RH Map1748.02UniSTS
NCBI RH Map1754.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3217
Count of miRNA genes:1212
Interacting mature miRNAs:1534
Transcripts:ENST00000158771, ENST00000570848, ENST00000571476, ENST00000571968, ENST00000571971, ENST00000572834, ENST00000573547, ENST00000573637, ENST00000574700, ENST00000574952, ENST00000575209, ENST00000575605, ENST00000576551
Prediction methods: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 1773 1620 1539 447 1460 301 3352 674 1605 315 1421 1535 159 1150 1882 3
Low 659 1364 184 175 488 163 1003 1519 2103 103 27 73 12 54 906 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001304777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_130905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_130906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF132289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF208065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF242523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG110482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM675359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU199049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA425310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN362881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN362882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY051246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000158771   ⟹   ENSP00000158771
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,471,254 - 5,486,178 (-)Ensembl
RefSeq Acc Id: ENST00000570848   ⟹   ENSP00000459072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,474,610 - 5,486,178 (-)Ensembl
RefSeq Acc Id: ENST00000571476   ⟹   ENSP00000461603
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,474,727 - 5,486,148 (-)Ensembl
RefSeq Acc Id: ENST00000571968
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,482,810 - 5,486,811 (-)Ensembl
RefSeq Acc Id: ENST00000571971   ⟹   ENSP00000458296
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,480,071 - 5,486,178 (-)Ensembl
RefSeq Acc Id: ENST00000572834   ⟹   ENSP00000460671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,474,452 - 5,486,162 (-)Ensembl
RefSeq Acc Id: ENST00000573547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,474,309 - 5,480,273 (-)Ensembl
RefSeq Acc Id: ENST00000573637   ⟹   ENSP00000458448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,480,400 - 5,486,165 (-)Ensembl
RefSeq Acc Id: ENST00000574700
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,480,510 - 5,486,183 (-)Ensembl
RefSeq Acc Id: ENST00000574952   ⟹   ENSP00000459154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,480,124 - 5,486,276 (-)Ensembl
RefSeq Acc Id: ENST00000575209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,482,270 - 5,486,175 (-)Ensembl
RefSeq Acc Id: ENST00000575605   ⟹   ENSP00000459083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,474,610 - 5,482,879 (-)Ensembl
RefSeq Acc Id: ENST00000576551   ⟹   ENSP00000467794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl175,477,897 - 5,486,159 (-)Ensembl
RefSeq Acc Id: NM_001304777   ⟹   NP_001291706
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,471,254 - 5,486,178 (-)NCBI
CHM1_1175,384,251 - 5,399,218 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001304779   ⟹   NP_001291708
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,471,254 - 5,486,178 (-)NCBI
CHM1_1175,384,251 - 5,399,218 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016041   ⟹   NP_057125
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,471,254 - 5,486,178 (-)NCBI
GRCh37175,377,582 - 5,389,520 (-)NCBI
Build 36175,318,337 - 5,330,221 (-)NCBI Archive
Celera175,393,985 - 5,405,873 (-)RGD
HuRef175,268,081 - 5,279,745 (-)RGD
CHM1_1175,384,251 - 5,399,218 (-)NCBI
Sequence:
RefSeq Acc Id: NR_130905
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,471,254 - 5,486,178 (-)NCBI
CHM1_1175,384,251 - 5,399,218 (-)NCBI
Sequence:
RefSeq Acc Id: NR_130906
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,471,254 - 5,486,178 (-)NCBI
CHM1_1175,384,251 - 5,399,218 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001752523
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,471,259 - 5,486,204 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958015
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,471,259 - 5,486,225 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958016
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,471,259 - 5,486,225 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057125   ⟸   NM_016041
- Peptide Label: isoform a
- UniProtKB: Q9GZP9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291706   ⟸   NM_001304777
- Peptide Label: isoform b
- Sequence:
RefSeq Acc Id: NP_001291708   ⟸   NM_001304779
- Peptide Label: isoform c
- UniProtKB: Q9GZP9 (UniProtKB/Swiss-Prot),   I3L3R8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000459072   ⟸   ENST00000570848
RefSeq Acc Id: ENSP00000461603   ⟸   ENST00000571476
RefSeq Acc Id: ENSP00000458296   ⟸   ENST00000571971
RefSeq Acc Id: ENSP00000460671   ⟸   ENST00000572834
RefSeq Acc Id: ENSP00000458448   ⟸   ENST00000573637
RefSeq Acc Id: ENSP00000459154   ⟸   ENST00000574952
RefSeq Acc Id: ENSP00000459083   ⟸   ENST00000575605
RefSeq Acc Id: ENSP00000467794   ⟸   ENST00000576551
RefSeq Acc Id: ENSP00000158771   ⟸   ENST00000158771

Promoters
RGD ID:6793929
Promoter ID:HG_KWN:24802
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000219825,   OTTHUMT00000219827,   UC002GCD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36175,330,051 - 5,330,862 (-)MPROMDB
RGD ID:7233553
Promoter ID:EPDNEW_H22522
Type:initiation region
Name:DERL2_1
Description:derlin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22525  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,486,174 - 5,486,234EPDNEW
RGD ID:7233559
Promoter ID:EPDNEW_H22525
Type:multiple initiation site
Name:DERL2_2
Description:derlin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22522  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,486,817 - 5,486,877EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 copy number loss See cases [RCV000053406] Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.2(chr17:5385377-5943772)x3 copy number gain See cases [RCV000134892] Chr17:5385377..5943772 [GRCh38]
Chr17:5288697..5847092 [GRCh37]
Chr17:5229421..5787816 [NCBI36]
Chr17:17p13.2
uncertain significance
GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1 copy number loss See cases [RCV000135548] Chr17:4044302..5943772 [GRCh38]
Chr17:3947596..5847092 [GRCh37]
Chr17:3894345..5787816 [NCBI36]
Chr17:17p13.2
likely pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2
pathogenic
GRCh38/hg38 17p13.2(chr17:5252176-5761432)x3 copy number gain See cases [RCV000142136] Chr17:5252176..5761432 [GRCh38]
Chr17:5155471..5664752 [GRCh37]
Chr17:5096195..5605476 [NCBI36]
Chr17:17p13.2
uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1
pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
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 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 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
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 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17p13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1 copy number loss not provided [RCV000849625] Chr17:3759126..6128911 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2
pathogenic
GRCh37/hg19 17p13.2(chr17:5378522-5692834)x3 copy number gain not provided [RCV001006864] Chr17:5378522..5692834 [GRCh37]
Chr17:17p13.2
uncertain significance
GRCh37/hg19 17p13.2(chr17:5143295-5850209)x3 copy number gain not provided [RCV001259319] Chr17:5143295..5850209 [GRCh37]
Chr17:17p13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17943 AgrOrtholog
COSMIC DERL2 COSMIC
Ensembl Genes ENSG00000072849 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000158771 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000458296 UniProtKB/TrEMBL
  ENSP00000458448 UniProtKB/TrEMBL
  ENSP00000459072 UniProtKB/TrEMBL
  ENSP00000459083 UniProtKB/TrEMBL
  ENSP00000459154 UniProtKB/TrEMBL
  ENSP00000460671 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000461603 UniProtKB/TrEMBL
  ENSP00000467794 UniProtKB/TrEMBL
Ensembl Transcript ENST00000158771 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000570848 UniProtKB/TrEMBL
  ENST00000571476 UniProtKB/TrEMBL
  ENST00000571971 UniProtKB/TrEMBL
  ENST00000572834 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000573637 UniProtKB/TrEMBL
  ENST00000574952 UniProtKB/TrEMBL
  ENST00000575605 UniProtKB/TrEMBL
  ENST00000576551 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1540.10 UniProtKB/TrEMBL
GTEx ENSG00000072849 GTEx
HGNC ID HGNC:17943 ENTREZGENE
Human Proteome Map DERL2 Human Proteome Map
InterPro DER1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhomboid-like_sf UniProtKB/TrEMBL
KEGG Report hsa:51009 UniProtKB/Swiss-Prot
NCBI Gene 51009 ENTREZGENE
OMIM 610304 OMIM
Pfam DER1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134896343 PharmGKB
UniProt DERL2_HUMAN UniProtKB/Swiss-Prot
  I3L0R8_HUMAN UniProtKB/TrEMBL
  I3L1S8_HUMAN UniProtKB/TrEMBL
  I3L1T3_HUMAN UniProtKB/TrEMBL
  I3L1W3_HUMAN UniProtKB/TrEMBL
  I3L3R8 ENTREZGENE, UniProtKB/TrEMBL
  I3L4W7_HUMAN UniProtKB/TrEMBL
  K7EQE8_HUMAN UniProtKB/TrEMBL
  Q9GZP9 ENTREZGENE
UniProt Secondary Q9Y3A7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-05-29 DERL2  derlin 2  DERL2  Der1-like domain family, member 2  Symbol and/or name change 5135510 APPROVED