PECR (peroxisomal trans-2-enoyl-CoA reductase) - Rat Genome Database

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Gene: PECR (peroxisomal trans-2-enoyl-CoA reductase) Homo sapiens
Analyze
Symbol: PECR
Name: peroxisomal trans-2-enoyl-CoA reductase
RGD ID: 1603637
HGNC Page HGNC
Description: Exhibits signaling receptor binding activity and trans-2-enoyl-CoA reductase (NADPH) activity. Involved in phytol metabolic process. Localizes to peroxisome; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 4,4'-sulfonyldiphenol; aflatoxin B1.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: 2,4-dienoyl-CoA reductase-related protein; DCR-RP; DCRRP; HPDHASE; HSA250303; putative short chain alcohol dehydrogenase; pVI-ARL; PVIARL; SDR29C1; short chain dehydrogenase/reductase family 29C member 1; short chain dehydrogenase/reductase family 29C, member 1; TERP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2215,996,329 - 216,082,955 (-)EnsemblGRCh38hg38GRCh38
GRCh382216,031,656 - 216,081,843 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372216,903,111 - 216,946,532 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362216,611,377 - 216,654,777 (-)NCBINCBI36hg18NCBI36
Celera2210,672,701 - 210,716,120 (-)NCBI
Cytogenetic Map2q35NCBI
HuRef2208,760,236 - 208,803,811 (-)NCBIHuRef
CHM1_12216,909,140 - 216,952,518 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
amiodarone  (ISO)
amitriptyline  (ISO)
ammonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bicalutamide  (EXP)
bisphenol A  (EXP,ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
cisplatin  (EXP,ISO)
clomipramine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
cylindrospermopsin  (ISO)
decanoyl-CoA  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
GW 4064  (EXP)
GW 7647  (EXP)
hexanoyl-CoA  (EXP)
imipramine  (ISO)
isotretinoin  (EXP)
ketoconazole  (ISO)
lauroyl-CoA  (EXP)
methapyrilene  (EXP,ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
NADP zwitterion  (EXP)
NADP(+)  (EXP)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (EXP)
oleic acid  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phlorizin  (ISO)
pirinixic acid  (ISO)
Propiverine  (ISO)
quercetin  (EXP)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
tamoxifen  (ISO)
tauroursodeoxycholic acid  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)
mitochondrion  (IEA)
peroxisomal membrane  (ISS,TAS)
peroxisome  (IBA,IDA)

Molecular Function

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10811639   PMID:11043578   PMID:11669066   PMID:11827452   PMID:11937624   PMID:12477932   PMID:15489334   PMID:15815621   PMID:16546181   PMID:18029348   PMID:19027726   PMID:19581569  
PMID:20178365   PMID:20463177   PMID:21873635   PMID:22002062   PMID:22745130   PMID:26186194   PMID:28514442   PMID:28724525   PMID:29568061   PMID:29576527   PMID:30378028  


Genomics

Comparative Map Data
PECR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2215,996,329 - 216,082,955 (-)EnsemblGRCh38hg38GRCh38
GRCh382216,031,656 - 216,081,843 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372216,903,111 - 216,946,532 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362216,611,377 - 216,654,777 (-)NCBINCBI36hg18NCBI36
Celera2210,672,701 - 210,716,120 (-)NCBI
Cytogenetic Map2q35NCBI
HuRef2208,760,236 - 208,803,811 (-)NCBIHuRef
CHM1_12216,909,140 - 216,952,518 (-)NCBICHM1_1
Pecr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39172,298,331 - 72,323,480 (-)NCBIGRCm39mm39
GRCm39 Ensembl172,298,326 - 72,323,473 (-)Ensembl
GRCm38172,259,172 - 72,284,321 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl172,259,167 - 72,284,314 (-)EnsemblGRCm38mm10GRCm38
MGSCv37172,305,746 - 72,330,888 (-)NCBIGRCm37mm9NCBIm37
MGSCv36172,192,385 - 72,217,512 (-)NCBImm8
Celera172,824,534 - 72,852,670 (-)NCBICelera
Cytogenetic Map1C3NCBI
cM Map136.46NCBI
Pecr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2973,897,877 - 73,926,511 (-)NCBI
Rnor_6.0 Ensembl979,601,901 - 79,630,536 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0979,601,937 - 79,630,547 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0979,375,015 - 79,403,569 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4971,414,826 - 71,443,719 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1971,561,810 - 71,590,701 (-)NCBI
Celera971,295,475 - 71,324,134 (-)NCBICelera
Cytogenetic Map9q33NCBI
Pecr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545317,076,115 - 17,108,957 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545317,059,779 - 17,109,531 (+)NCBIChiLan1.0ChiLan1.0
PECR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B221,902,404 - 221,945,131 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B221,902,404 - 221,945,134 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B103,300,621 - 103,344,638 (-)NCBIMhudiblu_PPA_v0panPan3
PECR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13723,038,285 - 23,067,357 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3723,038,285 - 23,067,357 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3723,864,161 - 23,893,197 (-)NCBI
ROS_Cfam_1.03723,061,473 - 23,090,534 (-)NCBI
UMICH_Zoey_3.13722,948,904 - 22,977,963 (-)NCBI
UNSW_CanFamBas_1.03722,900,756 - 22,929,927 (-)NCBI
UU_Cfam_GSD_1.03722,918,369 - 22,947,422 (-)NCBI
Pecr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303171,439,232 - 171,461,618 (-)NCBI
SpeTri2.0NW_0049365861,164,256 - 1,186,960 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PECR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15118,295,119 - 118,335,835 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115118,296,359 - 118,335,886 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215131,178,904 - 131,216,801 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PECR
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110101,884,553 - 101,925,367 (-)NCBI
ChlSab1.1 Ensembl10101,884,436 - 101,925,346 (-)Ensembl
Pecr
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248239,017,336 - 9,067,196 (+)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1356
Count of miRNA genes:798
Interacting mature miRNAs:905
Transcripts:ENST00000265322, ENST00000442122, ENST00000461330, ENST00000464722, ENST00000464737, ENST00000474093, ENST00000487318, ENST00000497889
Prediction methods:Microtar, Miranda, Rnahybrid
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 179 255 809 427 706 433 899 31 172 273 190 561 1 826 77 1
Low 2257 2636 916 197 1206 32 3428 2054 3556 146 1244 1049 173 1 378 2683 4 2
Below cutoff 1 100 1 38 29 111 6 26 2 27

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_018441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF212234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF232009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG742200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG939782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU151224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX471043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000265322   ⟹   ENSP00000265322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2216,038,388 - 216,081,809 (-)Ensembl
RefSeq Acc Id: ENST00000442122   ⟹   ENSP00000395512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2215,996,329 - 216,081,790 (-)Ensembl
RefSeq Acc Id: ENST00000461330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2216,039,256 - 216,066,523 (-)Ensembl
RefSeq Acc Id: ENST00000464722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2216,065,450 - 216,082,955 (-)Ensembl
RefSeq Acc Id: ENST00000464737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2216,043,972 - 216,057,947 (-)Ensembl
RefSeq Acc Id: ENST00000474093
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2216,065,210 - 216,081,800 (-)Ensembl
RefSeq Acc Id: ENST00000487318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2216,063,889 - 216,081,801 (-)Ensembl
RefSeq Acc Id: ENST00000497889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2216,049,263 - 216,081,745 (-)Ensembl
RefSeq Acc Id: NM_018441   ⟹   NP_060911
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382216,038,388 - 216,081,809 (-)NCBI
GRCh372216,903,111 - 216,946,539 (-)RGD
Build 362216,611,377 - 216,654,777 (-)NCBI Archive
Celera2210,672,701 - 210,716,120 (-)RGD
HuRef2208,760,236 - 208,803,811 (-)RGD
CHM1_12216,909,140 - 216,952,518 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452998   ⟹   XP_024308766
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382216,035,663 - 216,081,843 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452999   ⟹   XP_024308767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382216,035,663 - 216,081,805 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001738847
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382216,031,656 - 216,081,800 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001738848
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382216,049,263 - 216,081,800 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060911   ⟸   NM_018441
- UniProtKB: Q9BY49 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308766   ⟸   XM_024452998
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024308767   ⟸   XM_024452999
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000395512   ⟸   ENST00000442122
RefSeq Acc Id: ENSP00000265322   ⟸   ENST00000265322

Promoters
RGD ID:6862740
Promoter ID:EPDNEW_H4535
Type:initiation region
Name:PECR_1
Description:peroxisomal trans-2-enoyl-CoA reductase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382216,081,809 - 216,081,869EPDNEW
RGD ID:6797935
Promoter ID:HG_KWN:37113
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000337278
Position:
Human AssemblyChrPosition (strand)Source
Build 362216,630,751 - 216,631,251 (-)MPROMDB
RGD ID:6798343
Promoter ID:HG_KWN:37115
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
Transcripts:NM_001142310,   NM_001142311,   NM_001142312,   NM_018441,   OTTHUMT00000256666,   OTTHUMT00000337281,   OTTHUMT00000337282,   OTTHUMT00000337283,   UC002VFU.1,   UC002VFX.1,   UC010FVE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362216,654,454 - 216,654,954 (+)MPROMDB
RGD ID:6797936
Promoter ID:HG_KWN:37116
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000337284
Position:
Human AssemblyChrPosition (strand)Source
Build 362216,655,631 - 216,656,131 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q35(chr2:215079289-216799770)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052731]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052731]|See cases [RCV000052731] Chr2:215079289..216799770 [GRCh38]
Chr2:215944012..217664493 [GRCh37]
Chr2:215652257..217372738 [NCBI36]
Chr2:2q35
uncertain significance
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q35(chr2:215908412-216680325)x3 copy number gain See cases [RCV000139191] Chr2:215908412..216680325 [GRCh38]
Chr2:216773135..217545048 [GRCh37]
Chr2:216481380..217253293 [NCBI36]
Chr2:2q35
likely benign
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh37/hg19 2q35(chr2:216629374-217251859)x3 copy number gain Premature ovarian failure [RCV000225236] Chr2:216629374..217251859 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3 copy number gain not provided [RCV000682166] Chr2:205169148..219149293 [GRCh37]
Chr2:2q33.3-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q35(chr2:216843865-217175528)x3 copy number gain not provided [RCV000740884] Chr2:216843865..217175528 [GRCh37]
Chr2:2q35
benign
GRCh37/hg19 2q35(chr2:216923679-217006039)x3 copy number gain not provided [RCV000740885] Chr2:216923679..217006039 [GRCh37]
Chr2:2q35
benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_018441.6(PECR):c.249T>C (p.Asn83=) single nucleotide variant not provided [RCV000881076] Chr2:216066394 [GRCh38]
Chr2:216931117 [GRCh37]
Chr2:2q35
benign
GRCh37/hg19 2q35(chr2:216937755-217001750)x3 copy number gain not provided [RCV000848319] Chr2:216937755..217001750 [GRCh37]
Chr2:2q35
uncertain significance
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3
pathogenic
NM_018441.6(PECR):c.505G>C (p.Val169Leu) single nucleotide variant not provided [RCV000973317] Chr2:216058896 [GRCh38]
Chr2:216923619 [GRCh37]
Chr2:2q35
benign
NM_018441.6(PECR):c.183A>G (p.Glu61=) single nucleotide variant not provided [RCV000956033] Chr2:216066460 [GRCh38]
Chr2:216931183 [GRCh37]
Chr2:2q35
benign
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35
pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35
likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18281 AgrOrtholog
COSMIC PECR COSMIC
Ensembl Genes ENSG00000115425 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000265322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000395512 UniProtKB/TrEMBL
Ensembl Transcript ENST00000265322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000442122 UniProtKB/TrEMBL
GTEx ENSG00000115425 GTEx
HGNC ID HGNC:18281 ENTREZGENE
Human Proteome Map PECR Human Proteome Map
InterPro NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SDR_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55825 UniProtKB/Swiss-Prot
NCBI Gene 55825 ENTREZGENE
OMIM 605843 OMIM
Pfam adh_short UniProtKB/TrEMBL
PharmGKB PA134967510 PharmGKB
PRINTS GDHRDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DJS2_HUMAN UniProtKB/TrEMBL
  PECR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RE42 UniProtKB/Swiss-Prot
  Q53TC4 UniProtKB/Swiss-Prot
  Q6IAK9 UniProtKB/Swiss-Prot
  Q9NRD4 UniProtKB/Swiss-Prot
  Q9NY60 UniProtKB/Swiss-Prot
  Q9P1A4 UniProtKB/Swiss-Prot