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PYCR2 (pyrroline-5-carboxylate reductase 2)

Identity

Other aliasHLD10
P5CR2
HGNC (Hugo) PYCR2
LocusID (NCBI) 29920
Atlas_Id 56827
Location 1q42.12  [Link to chromosome band 1q42]
Location_base_pair Starts at 225919877 and ends at 225924340 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MXD3 (5q35.3) / PYCR2 (1q42.12)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PYCR2   30262
Cards
Entrez_Gene (NCBI)PYCR2  29920  pyrroline-5-carboxylate reductase 2
AliasesHLD10; P5CR2
GeneCards (Weizmann)PYCR2
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr1:225919877-225924340 [Contig_View]  PYCR2 [Vega]
TCGA cBioPortalPYCR2
AceView (NCBI)PYCR2
Genatlas (Paris)PYCR2
WikiGenes29920
SOURCE (Princeton)PYCR2
Genetics Home Reference (NIH)PYCR2
Genomic and cartography
GoldenPath hg38 (UCSC)PYCR2  -     chr1:225919877-225924340 -  1q42.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PYCR2  -     1q42.12   [Description]    (hg19-Feb_2009)
EnsemblPYCR2 - 1q42.12 [CytoView hg19]  PYCR2 - 1q42.12 [CytoView hg38]
Mapping of homologs : NCBIPYCR2 [Mapview hg19]  PYCR2 [Mapview hg38]
OMIM616406   616420   
Gene and transcription
Genbank (Entrez)AF087859 AF151351 AK001508 AK291913 AL834217
RefSeq transcript (Entrez)NM_001271681 NM_013328
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PYCR2
Cluster EST : UnigeneHs.654718 [ NCBI ]
CGAP (NCI)Hs.654718
Gene ExpressionPYCR2 [ NCBI-GEO ]   PYCR2 [ EBI - ARRAY_EXPRESS ]   PYCR2 [ SEEK ]   PYCR2 [ MEM ]
Gene Expression Viewer (FireBrowse)PYCR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29920
GTEX Portal (Tissue expression)PYCR2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96C36   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96C36  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96C36
Splice isoforms : SwissVarQ96C36
PhosPhoSitePlusQ96C36
Domaine pattern : Prosite (Expaxy)P5CR (PS00521)   
Domains : Interpro (EBI)6-PGluconate_DH_C-like    NAD(P)-bd_dom    P5C_Rdtase_cat_N    P5CR_dimer    Pyrroline-COOH_reductase   
Domain families : Pfam (Sanger)F420_oxidored (PF03807)    P5CR_dimer (PF14748)   
Domain families : Pfam (NCBI)pfam03807    pfam14748   
Conserved Domain (NCBI)PYCR2
DMDM Disease mutations29920
Blocks (Seattle)PYCR2
SuperfamilyQ96C36
Peptide AtlasQ96C36
IPIIPI00470610   IPI00335061   IPI00747534   IPI00514380   IPI00908985   
Protein Interaction databases
DIP (DOE-UCLA)Q96C36
IntAct (EBI)Q96C36
BioGRIDPYCR2
STRING (EMBL)PYCR2
ZODIACPYCR2
Ontologies - Pathways
QuickGOQ96C36
Ontology : AmiGOpyrroline-5-carboxylate reductase activity  mitochondrion  mitochondrial matrix  proline biosynthetic process  cellular amino acid biosynthetic process  cellular response to oxidative stress  oxidation-reduction process  L-proline biosynthetic process  
Ontology : EGO-EBIpyrroline-5-carboxylate reductase activity  mitochondrion  mitochondrial matrix  proline biosynthetic process  cellular amino acid biosynthetic process  cellular response to oxidative stress  oxidation-reduction process  L-proline biosynthetic process  
Pathways : KEGGArginine and proline metabolism   
NDEx NetworkPYCR2
Atlas of Cancer Signalling NetworkPYCR2
Wikipedia pathwaysPYCR2
Orthology - Evolution
OrthoDB29920
Phylogenetic Trees/Animal Genes : TreeFamPYCR2
HOVERGENQ96C36
HOGENOMQ96C36
Homologs : HomoloGenePYCR2
Homology/Alignments : Family Browser (UCSC)PYCR2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPYCR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PYCR2
dbVarPYCR2
ClinVarPYCR2
1000_GenomesPYCR2 
Exome Variant ServerPYCR2
ExAC (Exome Aggregation Consortium)PYCR2 (select the gene name)
Genetic variants : HAPMAP29920
Genomic Variants (DGV)PYCR2 [DGVbeta]
DECIPHERPYCR2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPYCR2 
Mutations
ICGC Data PortalPYCR2 
TCGA Data PortalPYCR2 
Broad Tumor PortalPYCR2
OASIS PortalPYCR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPYCR2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPYCR2
BioMutasearch PYCR2
DgiDB (Drug Gene Interaction Database)PYCR2
DoCM (Curated mutations)PYCR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PYCR2 (select a term)
intoGenPYCR2
Cancer3DPYCR2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616406    616420   
Orphanet
MedgenPYCR2
Genetic Testing Registry PYCR2
NextProtQ96C36 [Medical]
TSGene29920
GENETestsPYCR2
Target ValidationPYCR2
Huge Navigator PYCR2 [HugePedia]
snp3D : Map Gene to Disease29920
BioCentury BCIQPYCR2
ClinGenPYCR2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29920
Chemical/Pharm GKB GenePA134881955
Clinical trialPYCR2
Miscellaneous
canSAR (ICR)PYCR2 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePYCR2
EVEXPYCR2
GoPubMedPYCR2
iHOPPYCR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 14:04:55 CEST 2017

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