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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PYCR2 Gene

protein-coding   GIFtS: 58
GCID: GC01M226107

Pyrroline-5-Carboxylate Reductase Family, Member 2

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Pyrroline-5-Carboxylate Reductase Family, Member 21 2     Pyrroline 5-Carboxylate Reductase Isoform2
P5C Reductase 22 3     Pyrroline-5-Carboxylate Reductase 22
EC 1.5.1.23 8     P5CR 23
P5CR22     

External Ids:    HGNC: 302621   Entrez Gene: 299202   Ensembl: ENSG000001438117   UniProtKB: Q96C363   

Export aliases for PYCR2 gene to outside databases

Previous GC identifers: GC01M223083 GC01M222415 GC01M224174 GC01M226074 GC01M196625


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PYCR2 Gene:
This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the
conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively
spliced transcript variants have been described for this gene. (provided by RefSeq, Nov 2012)

GeneCards Summary for PYCR2 Gene: 
PYCR2 (pyrroline-5-carboxylate reductase family, member 2) is a protein-coding gene. Diseases associated with PYCR2 include gyrate atrophy, and cutis laxa, and among its related super-pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include pyrroline-5-carboxylate reductase activity and nucleotide binding. An important paralog of this gene is ENSG00000255835.

UniProtKB/Swiss-Prot: P5CR2_HUMAN, Q96C36
Function: Housekeeping enzyme that catalyzes the last step in proline biosynthesis. In some cell types, such as
erythrocytes, its primary function may be the generation of NADP(+). Can utilize both NAD and NADP. Has higher
affinity for NADP, but higher catalytic efficiency with NADH




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PYCR2 gene promoter:
         Elk-1   Pax-5   RelA   AP-2gamma   NF-kappaB   Roaz   E47   Pax-3   Hand1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPYCR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PYCR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PYCR2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q42.12   Ensembl cytogenetic band:  1q42.12   HGNC cytogenetic band: 1q42.13

PYCR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PYCR2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M226107:  view genomic region     (about GC identifiers)

Start:
226,107,578 bp from pter      End:
226,111,978 bp from pter
Size:
4,401 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: P5CR2_HUMAN, Q96C36 (See protein sequence)
Recommended Name: Pyrroline-5-carboxylate reductase 2  
Size: 320 amino acids; 33637 Da
Subunit: Homodecamer; composed of 5 homodimers (Probable)
Subcellular location: Cytoplasm
Secondary accessions: A8K798 Q7Z515 Q9Y5J4

Explore the universe of human proteins at neXtProt for PYCR2: NX_Q96C36

Explore proteomics data for PYCR2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96C36

  • 4/8 DME Specific Peptides for PYCR2 (Q96C36) (see all 8)
     LLGAAKML  TVYATGTHA  TGLSGSGPAY  SPGGATIHALH 

    PYCR2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PYCR2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001258610.1  NP_037460.2  

    ENSEMBL proteins: 
     ENSP00000342502  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    PYCR2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR004455 NADP_OxRdtase_F420
     IPR008927 6-PGluconate_DH_C-like
     IPR000304 Pyrroline-COOH_reductase
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q96C36

    ProtoNet protein and cluster: Q96C36

    1 Blocks protein domain: IPB000304 Delta 1-pyrroline-5-carboxylate reductase

    UniProtKB/Swiss-Prot: P5CR2_HUMAN, Q96C36
    Similarity: Belongs to the pyrroline-5-carboxylate reductase family


    PYCR2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: P5CR2_HUMAN, Q96C36
    Function: Housekeeping enzyme that catalyzes the last step in proline biosynthesis. In some cell types, such as
    erythrocytes, its primary function may be the generation of NADP(+). Can utilize both NAD and NADP. Has higher
    affinity for NADP, but higher catalytic efficiency with NADH
    Catalytic activity: L-proline + NAD(P)(+) = 1-pyrroline-5-carboxylate + NAD(P)H
    Enzyme regulation: Subject to competitive inhibition by NADP. Not inhibited by proline
    Biophysicochemical properties: Kinetic parameters: KM=0.64 mM for NADH; KM=0.04 mM for NADPH; KM=1.49 mM for
    pyrroline-5-carboxylate (in the presence of NADH); KM=0.23 mM for pyrroline-5-carboxylate (in the presence of
    NADPH); Vmax=28.5 umol/min/ug enzyme (in the presence of NADH); Vmax=3.7 umol/min/ug enzyme (in the presence of
    NADPH);

         Enzyme Number (IUBMB): EC 1.5.1.21 2

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004735pyrroline-5-carboxylate reductase activity IEA--
         
    PYCR2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PYCR2:
     Decreased Wnt reporter activit  Increased HPV18 LCR reporter a 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PYCR2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.40
    2Carbon metabolism
    Biosynthesis of amino acids0.37
    3Arginine and proline metabolism
    Arginine and proline metabolism0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    3         Kegg Pathways  (Kegg details for PYCR2):
        Arginine and proline metabolism
    Metabolic pathways
    Biosynthesis of amino acids

    UniProtKB/Swiss-Prot: P5CR2_HUMAN, Q96C36
    Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-proline from L-glutamate 5-semialdehyde: step 1/1


    PYCR2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PYCR2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/262 Interacting proteins for PYCR2 (Q96C362, 3 ENSP000003425024) via UniProtKB, MINT, STRING, and/or I2D (see all 262)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    SKILP127572, 3, ENSP000002591194MINT-61687 I2D: score=3 STRING: ENSP00000259119
    CICQ96RK03, ENSP000001607404I2D: score=2 STRING: ENSP00000160740
    TERF2Q155543, ENSP000002549424I2D: score=1 STRING: ENSP00000254942
    ALDH18A1P548862, ENSP000003602684MINT-8079030 STRING: ENSP00000360268
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006561proline biosynthetic process ----
    GO:0055114oxidation-reduction process ----
    GO:0055129L-proline biosynthetic process IEA--

    PYCR2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PYCR2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PYCR2 (P5CR2)

    9 HMDB Compounds for PYCR2    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Pyrroline-5-carboxylic acid(S)-1-pyrroline-5-carboxylate (see all 16)2906-39-0--
    4-Hydroxy-L-prolineL-4-hydroxy-proline (see all 11)30724-02-8--
    Hydroxyproline(2S,4R)-4-hydroxy-2-pyrrolidinecarboxylic acid (see all 21)51-35-4--
    L-Proline(-)-(S)-Proline (see all 16)147-85-3--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--
    Pyrroline hydroxycarboxylic acid3-Hydroxy-L-1-pyrroline-5-carboxylate (see all 5)22573-88-2--

    2 DrugBank Compounds for PYCR2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Proline(-)-2-Pyrrolidinecarboxylic acid (see all 6)147-85-3target--11479381 17139284 17016423
    NADHbeta-DPNH (see all 18)606-68-8target--11479381 17139284 17016423

    3 Novoseek inferred chemical compound relationships for PYCR2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    delta(1)pyrroline-5-carboxylate 95 17 1730675 (5), 16600630 (2), 16730026 (2), 11389757 (1) (see all 6)
    proline 63.6 4 1730675 (2), 16600630 (1), 16730026 (1)
    nadph 41.6 2 16600630 (1), 16730026 (1)

    Search CenterWatch for drugs/clinical trials and news about PYCR2 / P5CR2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PYCR2 gene (2 alternative transcripts): 
    NM_001271681.1  NM_013328.3  

    Unigene Cluster for PYCR2:

    Pyrroline-5-carboxylate reductase family, member 2
    Hs.654718  [show with all ESTs]
    Unigene Representative Sequence: NM_013328
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000343818 ENST00000478402(uc001hpq.3) ENST00000466127 ENST00000446534(uc001hps.1)
    ENST00000489681 ENST00000472798 ENST00000467298 ENST00000366823
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF087859.1 AF151351.1 AK291913.1 AL834217.1 BC014868.1 BC020553.1 

    17 DOTS entries:

    DT.92461963  DT.100814900  DT.121349843  DT.100814902  DT.444679  DT.95340144  DT.100814895  DT.95369130 
    DT.100814907  DT.95369125  DT.100029866  DT.100814906  DT.40257593  DT.75161188  DT.95369127  DT.121349881 
    DT.121349882 

    24/388 AceView cDNA sequences (see all 388):

    BM919833 BM784232 BX363452 BI522669 NM_013328 CD624826 BI518598 BM830850 
    BI819821 BI771859 AW206613 CA843837 AK001508 BF941375 AI863089 BI766666 
    BF221535 AI869343 AI189379 CR620489 CR608958 BI910857 BM453347 BM706429 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for PYCR2 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
    SP1:                                -     -           -     -     -                                             
    SP2:                                -     -           -     -     -           -                                 
    SP3:                                -     -           -     -     -                                             
    SP4:                                                  -     -     -                                             
    SP5:                                                  -     -     -                 -     -                     


    ECgene alternative splicing isoforms for PYCR2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PYCR2 expression in normal human tissues (normalized intensities)      PYCR2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGAAGTTG
    PYCR2 Expression
    About this image


    PYCR2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
             skeleton/cranium   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See PYCR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PYCR2

    SOURCE GeneReport for Unigene cluster: Hs.654718

    UniProtKB/Swiss-Prot: P5CR2_HUMAN, Q96C36
    Tissue specificity: Detected in erythrocytes (at protein level)

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for PYCR2 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pycr21 , 5 pyrroline-5-carboxylate reductase family, member 21, 5 87.6(n)1
    92.19(a)1
      1 (84.46 cM)5
    690511  NM_133705.21  NP_598466.11 
     1809042745 
    chicken
    (Gallus gallus)
    Aves PYCR21 pyrroline-5-carboxylate reductase family, member 2 78.11(n)
    85.81(a)
      769203  XM_001232431.2  XP_001232432.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    82(a)
    1 → many
    2(118425525-118442804)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.141022 Xenopus laevis transcribed sequence with moderate similarity more 73.67(n)    AW638347.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1106551 zgc:110655 74.3(n)
    81.48(a)
      100149838  NM_001020618.1  NP_001018454.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG58406
    P5cr6
    Pyrroline 5-carboyxlate reductase
    41(a)
    39(a)
    1 ↔ many
    possible ortholog
    3R(13360537-13362858)
    3R(14854659-14855881)
    worm
    (Caenorhabditis elegans)
    Secernentea M153.16
    F55G1.96
    Putative pyrroline-5-carboxylate reductase
    47(a)
    25(a)
    1 ↔ many
    possible ortholog
    X(12146817-12148471)
    IV(7476168-7477344)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PRO36
    Delta 1-pyrroline-5-carboxylate reductase, catalyz...
    27(a)
    1 → many
    V(201076-201936)


    ENSEMBL Gene Tree for PYCR2 (if available)
    TreeFam Gene Tree for PYCR2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PYCR2 gene
    ENSG000002558352  PYCR12  PYCRL2  
    5 SIMAP similar genes for PYCR2 using alignment to 2 protein entries:     P5CR2_HUMAN (see all proteins):
    PIG45    PYCR1    P5CR2    PYCRL    DKFZp434J218

    PYCR2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/192 SNPs in PYCR2 are shown (see all 192)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1873084781,2
    C--226107088(+) CCACGA/CCCGGC 2 -- ds50010--------
    rs1922871601,2
    C--226107125(+) GAGACA/GGGGTT 2 -- ds50010--------
    rs1495643571,2
    --226107225(+) CACTGA/CGCCTG 2 -- ds50010--------
    rs800976231,2
    C--226107335(+) GCAGAC/TGGCTT 2 -- ds50014Minor allele frequency- T:0.07CSA WA NA EA 360
    rs1140169561,2
    C--226107426(+) GAACAA/CCACCT 2 -- ds50010--------
    rs1902160141,2
    C--226107484(+) TAGCCC/TTTGGA 2 -- ds50010--------
    rs1824416771,2
    --226107664(+) AGTTAA/CATATA 2 -- ut310--------
    rs115507341,2
    C,F,H--226107678(+) CCAGTC/TTAATC 2 -- ut31 ese39Minor allele frequency- T:0.01EA NS NA 970
    rs148681,2
    C,F,O,A,H--226107787(+) TTGCCT/CTGGCA 2 -- ut3119Minor allele frequency- C:0.15MN NS EA NA 2596
    rs754849051,2
    C,F--226107920(+) GCTTCC/TAGCAT 2 -- ut312Minor allele frequency- T:0.07WA EA 238

    HapMap Linkage Disequilibrium report for PYCR2 (226107578 - 226111978 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PYCR2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv873231CNV Loss21882294
    nsv524126CNV Gain19592680

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    4 diseases for PYCR2:    About MalaCards
    gyrate atrophy    cutis laxa    pneumonia    tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for PYCR2:
    Cutis laxa     Gyrate atrophy

    PYCR2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): PYCR2

    Export disorders for PYCR2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PYCR2 gene, integrated from 9 sources (see all 37):
    (articles sorted by number of sources associating them with PYCR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    5. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    6. Functional specialization in proline biosynthesis of m elanoma. (PubMed id 23024808)1 De Ingeniis J....Smith J.W. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Activity-based chemical proteomics accelerates inhibi tor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 29920 HGNC: 30262 AceView: PYCR2 Ensembl:ENSG00000143811 euGenes: HUgn29920
    ECgene: PYCR2 Kegg: 29920 H-InvDB: PYCR2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PYCR2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PYCR2 gene:
    Search GeneIP for patents involving PYCR2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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