UPP2 (uridine phosphorylase 2) - Rat Genome Database

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Gene: UPP2 (uridine phosphorylase 2) Homo sapiens
Analyze
Symbol: UPP2
Name: uridine phosphorylase 2
RGD ID: 1317821
HGNC Page HGNC
Description: Enables deoxyuridine phosphorylase activity; identical protein binding activity; and uridine phosphorylase activity. Involved in dCMP catabolic process and uridine catabolic process. Located in type III intermediate filament.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: liver-specific uridine phosphorylase; UDRPASE2; UP2; UPase 2; UPASE2; urdPase 2; uridine phosphorylase-2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
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
GRCh382157,995,179 - 158,136,154 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2157,876,702 - 158,136,154 (+)EnsemblGRCh38hg38GRCh38
GRCh372158,851,691 - 158,992,666 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362158,559,937 - 158,700,724 (+)NCBINCBI36hg18NCBI36
Build 342158,677,198 - 158,817,985NCBI
Celera2152,468,457 - 152,609,424 (+)NCBI
Cytogenetic Map2q24.1NCBI
HuRef2150,739,887 - 150,880,962 (+)NCBIHuRef
CHM1_12158,857,583 - 158,998,565 (+)NCBICHM1_1
T2T-CHM13v2.02158,452,010 - 158,592,948 (+)NCBI
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

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7488099   PMID:11278417   PMID:12477932   PMID:12849978   PMID:14702039   PMID:15489334   PMID:15815621   PMID:17207965   PMID:19401682   PMID:20932310   PMID:21151189   PMID:21855639  
PMID:21873635   PMID:25416956   PMID:26871637   PMID:27107014   PMID:29892012   PMID:31515488   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
UPP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382157,995,179 - 158,136,154 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2157,876,702 - 158,136,154 (+)EnsemblGRCh38hg38GRCh38
GRCh372158,851,691 - 158,992,666 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362158,559,937 - 158,700,724 (+)NCBINCBI36hg18NCBI36
Build 342158,677,198 - 158,817,985NCBI
Celera2152,468,457 - 152,609,424 (+)NCBI
Cytogenetic Map2q24.1NCBI
HuRef2150,739,887 - 150,880,962 (+)NCBIHuRef
CHM1_12158,857,583 - 158,998,565 (+)NCBICHM1_1
T2T-CHM13v2.02158,452,010 - 158,592,948 (+)NCBI
Upp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39258,456,329 - 58,685,858 (+)NCBIGRCm39mm39
GRCm39 Ensembl258,457,310 - 58,682,983 (+)Ensembl
GRCm38258,566,317 - 58,795,846 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl258,567,298 - 58,792,971 (+)EnsemblGRCm38mm10GRCm38
MGSCv37258,607,596 - 58,643,079 (+)NCBIGRCm37mm9NCBIm37
MGSCv36258,570,571 - 58,606,054 (+)NCBImm8
Celera260,510,835 - 60,545,982 (+)NCBICelera
Cytogenetic Map2C1.1NCBI
Upp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2343,273,048 - 43,317,417 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl343,273,048 - 43,317,417 (+)Ensembl
Rnor_6.0344,806,106 - 44,846,464 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl344,806,106 - 44,846,464 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0349,922,719 - 49,961,766 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4340,492,002 - 40,536,956 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1340,380,721 - 40,432,184 (+)NCBI
Celera341,338,432 - 41,381,638 (+)NCBICelera
Cytogenetic Map3q21NCBI
Upp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544915,365,106 - 15,405,235 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544915,355,592 - 15,405,997 (-)NCBIChiLan1.0ChiLan1.0
UPP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B162,603,164 - 162,636,231 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B162,496,507 - 162,636,231 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B45,363,103 - 45,400,281 (+)NCBIMhudiblu_PPA_v0panPan3
Upp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303121,104,636 - 121,152,019 (+)NCBI
SpeTri2.0NW_00493646920,465,767 - 20,513,084 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UPP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1565,088,284 - 65,131,789 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11565,088,652 - 65,131,739 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21572,235,731 - 72,280,652 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UPP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11043,510,752 - 43,545,133 (+)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666040156,036,611 - 156,069,106 (-)NCBIVero_WHO_p1.0
Upp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247327,597,782 - 7,644,423 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247327,574,609 - 7,641,345 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
WI-14877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,971,383 - 158,971,511UniSTSGRCh37
Build 362158,679,629 - 158,679,757RGDNCBI36
Celera2152,588,139 - 152,588,267RGD
Cytogenetic Map2q24.1UniSTS
HuRef2150,859,670 - 150,859,798UniSTS
GeneMap99-GB4 RH Map2521.18UniSTS
Whitehead-RH Map2794.7UniSTS
NCBI RH Map21116.4UniSTS
SHGC-85171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,984,324 - 158,984,619UniSTSGRCh37
Build 362158,692,570 - 158,692,865RGDNCBI36
Celera2152,601,080 - 152,601,375RGD
Cytogenetic Map2q24.1UniSTS
HuRef2150,872,611 - 150,872,906UniSTS
TNG Radiation Hybrid Map290280.0UniSTS
SHGC-143679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,857,856 - 158,858,147UniSTSGRCh37
Build 362158,566,102 - 158,566,393RGDNCBI36
Celera2152,474,622 - 152,474,913RGD
Cytogenetic Map2q24.1UniSTS
HuRef2150,746,052 - 150,746,343UniSTS
TNG Radiation Hybrid Map290237.0UniSTS
SHGC-31345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,977,260 - 158,977,409UniSTSGRCh37
Build 362158,685,506 - 158,685,655RGDNCBI36
Celera2152,594,015 - 152,594,164RGD
Cytogenetic Map2q24.1UniSTS
HuRef2150,865,547 - 150,865,696UniSTS
TNG Radiation Hybrid Map290274.0UniSTS
GeneMap99-GB4 RH Map2521.18UniSTS
Whitehead-RH Map2794.7UniSTS
NCBI RH Map21116.4UniSTS
GeneMap99-G3 RH Map27379.0UniSTS
WI-14252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372158,893,979 - 158,894,126UniSTSGRCh37
Build 362158,602,225 - 158,602,372RGDNCBI36
Celera2152,510,736 - 152,510,883RGD
Cytogenetic Map2q24.1UniSTS
HuRef2150,782,174 - 150,782,321UniSTS
GeneMap99-GB4 RH Map2512.94UniSTS
Whitehead-RH Map2801.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1156
Count of miRNA genes:401
Interacting mature miRNAs:436
Transcripts:ENST00000005756, ENST00000409859, ENST00000460456, ENST00000489438, ENST00000605860
Prediction methods: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 adipose tissue appendage entire extraembryonic component
High
Medium 40 40 40 69 2
Low 1 9 493 263 7 247 27 7 2594 175 223 134 15 3 25
Below cutoff 1706 1828 1066 290 743 157 2912 1147 1048 129 1071 1195 139 1014 1797 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001135098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_922880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_922881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA995921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW771260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY225131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000005756   ⟹   ENSP00000005756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2158,101,876 - 158,136,154 (+)Ensembl
RefSeq Acc Id: ENST00000460456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2158,101,868 - 158,135,227 (+)Ensembl
RefSeq Acc Id: ENST00000489438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2158,126,426 - 158,135,298 (+)Ensembl
RefSeq Acc Id: ENST00000605860   ⟹   ENSP00000474090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2157,876,702 - 158,136,154 (+)Ensembl
RefSeq Acc Id: NM_001135098   ⟹   NP_001128570
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382157,995,179 - 158,136,154 (+)NCBI
GRCh372158,733,213 - 158,992,666 (+)NCBI
Celera2152,468,457 - 152,609,424 (+)RGD
HuRef2150,739,887 - 150,880,962 (+)RGD
CHM1_12158,857,583 - 158,998,565 (+)NCBI
T2T-CHM13v2.02158,452,010 - 158,592,948 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173355   ⟹   NP_775491
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382158,101,876 - 158,136,154 (+)NCBI
GRCh372158,733,213 - 158,992,666 (+)NCBI
Build 362158,559,937 - 158,700,724 (+)NCBI Archive
Celera2152,468,457 - 152,609,424 (+)RGD
HuRef2150,739,887 - 150,880,962 (+)RGD
CHM1_12158,964,274 - 158,998,565 (+)NCBI
T2T-CHM13v2.02158,558,687 - 158,592,948 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003484   ⟹   XP_016858973
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382158,101,876 - 158,123,731 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001128570   ⟸   NM_001135098
- Peptide Label: isoform b
- UniProtKB: O95045 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_775491   ⟸   NM_173355
- Peptide Label: isoform a
- UniProtKB: O95045 (UniProtKB/Swiss-Prot),   A0A0S2Z634 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858973   ⟸   XM_017003484
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000005756   ⟸   ENST00000005756
RefSeq Acc Id: ENSP00000474090   ⟸   ENST00000605860
Protein Domains
PNP_UDP_1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95045-F1-model_v2 AlphaFold O95045 1-317 view protein structure

Promoters
RGD ID:6861806
Promoter ID:EPDNEW_H4068
Type:initiation region
Name:UPP2_1
Description:uridine phosphorylase 2
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
GRCh382158,101,876 - 158,101,936EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 copy number gain See cases [RCV000052950] Chr2:154366788..167048902 [GRCh38]
Chr2:155223300..167905412 [GRCh37]
Chr2:154931546..167613658 [NCBI36]
Chr2:2q24.1-24.3
pathogenic
GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1 copy number loss See cases [RCV000054093] Chr2:148917286..163204623 [GRCh38]
Chr2:149674855..164061133 [GRCh37]
Chr2:149391325..163769379 [NCBI36]
Chr2:2q23.1-24.3
pathogenic
NM_001135098.1(UPP2):c.148-35343G>T single nucleotide variant Lung cancer [RCV000091594] Chr2:158066697 [GRCh38]
Chr2:158923209 [GRCh37]
Chr2:2q24.1
uncertain significance
GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3 copy number gain See cases [RCV000135402] Chr2:143900149..158321624 [GRCh38]
Chr2:144657717..159178136 [GRCh37]
Chr2:144374187..158886382 [NCBI36]
Chr2:2q22.3-24.1
pathogenic
GRCh38/hg38 2q24.1(chr2:158081288-158743457)x1 copy number loss See cases [RCV000137812] Chr2:158081288..158743457 [GRCh38]
Chr2:158937800..159599969 [GRCh37]
Chr2:158646046..159308215 [NCBI36]
Chr2:2q24.1
uncertain significance
GRCh38/hg38 2q24.1(chr2:157418173-158277521)x1 copy number loss See cases [RCV000142260] Chr2:157418173..158277521 [GRCh38]
Chr2:158274685..159134033 [GRCh37]
Chr2:157982931..158842279 [NCBI36]
Chr2:2q24.1
uncertain significance
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1
pathogenic
GRCh38/hg38 2q23.3-24.1(chr2:153609714-158185125)x1 copy number loss See cases [RCV000142963] Chr2:153609714..158185125 [GRCh38]
Chr2:154466227..159041637 [GRCh37]
Chr2:154174473..158749883 [NCBI36]
Chr2:2q23.3-24.1
pathogenic
GRCh38/hg38 2q23.3-24.2(chr2:151932344-159419734)x1 copy number loss See cases [RCV000142664] Chr2:151932344..159419734 [GRCh38]
Chr2:152788858..160276245 [GRCh37]
Chr2:152497104..159984491 [NCBI36]
Chr2:2q23.3-24.2
pathogenic|likely pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
GRCh37/hg19 2q24.1(chr2:158761397-159068144)x1 copy number loss See cases [RCV000446605] Chr2:158761397..159068144 [GRCh37]
Chr2:2q24.1
uncertain significance
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 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 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1 copy number loss See cases [RCV000512264] Chr2:157970774..169270675 [GRCh37]
Chr2:2q24.1-24.3
pathogenic
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(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
NM_173355.4(UPP2):c.462A>C (p.Ala154=) single nucleotide variant not provided [RCV000964877] Chr2:158121416 [GRCh38]
Chr2:158977928 [GRCh37]
Chr2:2q24.1
benign
GRCh37/hg19 2q24.1-24.2(chr2:158925958-162489191)x1 copy number loss not provided [RCV001005346] Chr2:158925958..162489191 [GRCh37]
Chr2:2q24.1-24.2
pathogenic
NM_173355.4(UPP2):c.232A>C (p.Met78Leu) single nucleotide variant not provided [RCV000958586] Chr2:158115152 [GRCh38]
Chr2:158971664 [GRCh37]
Chr2:2q24.1
benign
GRCh37/hg19 2q24.1(chr2:156696086-159450561)x1 copy number loss not provided [RCV001259776] Chr2:156696086..159450561 [GRCh37]
Chr2:2q24.1
likely pathogenic
GRCh37/hg19 2q23.3-24.2(chr2:152967964-160089210)x3 copy number gain not provided [RCV001825170] Chr2:152967964..160089210 [GRCh37]
Chr2:2q23.3-24.2
not provided
GRCh37/hg19 2q24.1(chr2:158761397-159068144) copy number loss not specified [RCV002053255] Chr2:158761397..159068144 [GRCh37]
Chr2:2q24.1
uncertain significance
GRCh37/hg19 2q24.1-24.3(chr2:158950827-164456735) copy number loss not specified [RCV002053256] Chr2:158950827..164456735 [GRCh37]
Chr2:2q24.1-24.3
pathogenic
GRCh37/hg19 2q23.3-24.1(chr2:154852961-159126250)x1 copy number loss not provided [RCV001827793] Chr2:154852961..159126250 [GRCh37]
Chr2:2q23.3-24.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23061 AgrOrtholog
COSMIC UPP2 COSMIC
Ensembl Genes ENSG00000007001 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000005756 ENTREZGENE
  ENSP00000005756.5 UniProtKB/Swiss-Prot
  ENSP00000474090 ENTREZGENE
  ENSP00000474090.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000005756 ENTREZGENE
  ENST00000005756.5 UniProtKB/Swiss-Prot
  ENST00000605860 ENTREZGENE
  ENST00000605860.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.1580 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000007001 GTEx
HGNC ID HGNC:23061 ENTREZGENE
Human Proteome Map UPP2 Human Proteome Map
InterPro Nucleoside_phosphorylase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleoside_phosphorylase_d UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleoside_phosphorylase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Uridine_phosphorylase_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:151531 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 151531 ENTREZGENE
OMIM 617340 OMIM
Pfam PNP_UDP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134866434 PharmGKB, RGD
PROSITE PNP_UDP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53167 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs euk_UDPppase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z634 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z639_HUMAN UniProtKB/TrEMBL
  A0A0S2Z698_HUMAN UniProtKB/TrEMBL
  A0A0S2Z6U5_HUMAN UniProtKB/TrEMBL
  O95045 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B3KV87 UniProtKB/Swiss-Prot