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

UFSP2 Gene

protein-coding   GIFtS: 49
GCID: GC04M186321

UFM1-specific peptidase 2

(Previous name: chromosome 4 open reading frame 20 )
(Previous symbol: C4orf20)
 Explore 2 diseases affiliated with
UFSP2 via our new
 Human Malady Compendium 
Biological research products
for UFSP2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
UFM1-Specific Peptidase 21 2     Ufm1-Specific Protease 22
C4orf201 2 3 5     EC 3.4.22.-3
FLJ112001     UfSP23
Chromosome 4 Open Reading Frame 201     EC 3.4.228

External Ids:    HGNC: 256401   Entrez Gene: 553252   Ensembl: ENSG000001097757   OMIM: 6114825   UniProtKB: Q9NUQ73   
ORGUL members:         
NONCODE:n408138    

Export aliases for UFSP2 gene to outside databases

Previous GC identifers: GC04M186559 GC04M182074


(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 UFSP2:
Like ubiquitin (see MIM 191339), ubiquitin-fold modifier-1 (UFM1; MIM 610553) must be processed by a protease before it
can conjugate with its target proteins. UFSP2 is a thiol protease that specifically processes the C terminus of UFM1
(Kang et al., 2007 (PubMed 17182609)).(supplied by OMIM, Oct 2009)

UniProtKB/Swiss-Prot: UFSP2_HUMAN, Q9NUQ7
Function: Thiol protease which recognizes and hydrolyzes the peptide bond at the C-terminal Gly of UFM1, an
ubiquitin-like modifier protein bound to a number of target proteins. Does not hydrolyze SUMO1 or ISG15 ubiquitin-like
proteins (By similarity)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UFSP2 gene promoter:
         ISGF-3   STAT1   Brachyury   HOXA5   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUFSP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for UFSP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UFSP2


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

Entrez Gene cytogenetic band: 4q35.1   Ensembl cytogenetic band:  4q35.1   HGNC cytogenetic band: 4q35.1

UFSP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UFSP2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M186321:  view genomic region     (about GC identifiers)

Start:
186,320,694 bp from pter      End:
186,347,139 bp from pter
Size:
26,446 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: UFSP2_HUMAN, Q9NUQ7 (See protein sequence)
Recommended Name: Ufm1-specific protease 2  
Size: 469 amino acids; 53261 Da
Subunit: Interacts with DDRGK1 (By similarity)
Subcellular location: Cytoplasm (By similarity). Endoplasmic reticulum (By similarity). Nucleus (By similarity)
Secondary accessions: Q6IA77 Q96FS3

Explore the universe of human proteins at neXtProt for UFSP2: NX_Q9NUQ7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NUQ7

  • 4/15 DME Specific Peptides for UFSP2 (Q9NUQ7) (see all 15)
     LILDPHY  TSKILFV  DRPYFKR  LDPHYTG 

    UFSP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060829.2  
    ENSEMBL proteins: 
     ENSP00000423599   ENSP00000264689   ENSP00000421133   ENSP00000425855   ENSP00000423657  
     ENSP00000424419   ENSP00000423108  

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    Uscn Proteins for UFSP2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--
    GO:0005783endoplasmic reticulum ISS--


    UFSP2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    UFSP2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR012462 Peptidase_C78_UfSP1/2

    Graphical View of Domain Structure for InterPro Entry Q9NUQ7

    ProtoNet protein and cluster: Q9NUQ7

    1 Blocks protein family: IPB012462 Protein of unknown function DUF1671

    UniProtKB/Swiss-Prot: UFSP2_HUMAN, Q9NUQ7
    Similarity: Belongs to the peptidase C78 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: UFSP2_HUMAN, Q9NUQ7
    Function: Thiol protease which recognizes and hydrolyzes the peptide bond at the C-terminal Gly of UFM1, an
    ubiquitin-like modifier protein bound to a number of target proteins. Does not hydrolyze SUMO1 or ISG15 ubiquitin-like
    proteins (By similarity)

    Enzyme Numbers (IUBMB): EC 3.4.222 EC 3.4.22.-1

    miRNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016790thiolester hydrolase activity IEA--
    GO:0019783small conjugating protein-specific protease activity ISS--


    UFSP2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for UFSP2:
     Increased G1 DNA content 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UFSP2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for UFSP2 (Q9NUQ73 ENSP000002646894) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAPN1P073843, ENSP000002792474I2D: score=2 STRING: ENSP00000279247
    CAPN3ENSP000003803494STRING: ENSP00000380349
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--


    UFSP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UFSP2
    Search CenterWatch for drugs/clinical trials and news about UFSP2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UFSP2 gene: 
    NM_018359.3  

    Unigene Cluster for UFSP2:

    UFM1-specific peptidase 2
    Hs.713548  [show with all ESTs]
    Unigene Representative Sequence: NM_018359
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000514247(uc003ixo.2 uc003ixq.2) ENST00000264689 ENST00000510206
    ENST00000510755 ENST00000511485 ENST00000509180 ENST00000502428 ENST00000502282
    ENST00000505357

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    Additional cDNA sequence: 

    AK002062.1 AK091635.1 BC010493.1 CR457278.1 NR_028085.1 

    17 DOTS entries:

    DT.92440901  DT.453264  DT.100810754  DT.121224538  DT.100810745  DT.100810742  DT.100810750  DT.100830108 
    DT.99928380  DT.100810752  DT.121224610  DT.214868  DT.40121372  DT.40121373  DT.97858856  DT.95286699 
    DT.86847297 

    24/207 AceView cDNA sequences (see all 207):

    BX377632 AI903359 BQ070472 AW953657 AI367419 AA282484 AA487915 BX280237 
    BX394337 BM763762 BE327410 BG413410 AI611680 BM765175 BC010493 CR604246 
    AA974222 AA604615 CK822466 CR615741 W69760 BU160554 CR610255 BE302372 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for UFSP2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
    SP1:                                                                          -                           
    SP2:                                -                                                                     
    SP3:                                                                                                      


    ECgene alternative splicing isoforms for UFSP2

    (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

    UFSP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAATGAGATT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See UFSP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UFSP2

    SOURCE GeneReport for Unigene cluster: Hs.713548
        SABiosciences Custom PCR Arrays for UFSP2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UFSP2

    (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 eukaryotes.

    Orthologs for UFSP2 gene from 9/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ufsp21 , 5 UFM1-specific peptidase 21, 5 83.66(n)1
    84.82(a)1
      8 (25.96 cM)5
    1921691  NM_138668.11  NP_619609.11 
     459755285 
    chicken
    (Gallus gallus)
    Aves UFSP21 UFM1-specific peptidase 2 75.58(n)
    76.09(a)
      422542  NM_001031136.1  NP_001026307.1 
    lizard
    (Anolis carolinensis)
    Reptilia UFSP26
    --
    76(a)
    1 ↔ 1
    5(112859550-112873724)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.160992 Xenopus laevis transcribed sequence with moderate similarity more 77.8(n)    BJ076980.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb05c062 wufb05c06 75.22(n)   336782  BC053257.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG169791 CG16979 50.78(n)
    48.91(a)
      39687  NM_140522.2  NP_648779.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F38A5.16
    Probable Ufm1-specific protease
    26(a)
    1 ↔ 1
    IV(6579827-6582665)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G483801 putative Ufm1-specific protease 54.59(n)
    47.76(a)
      823996  NM_148861.3  NP_680114.1 
    rice
    (Oryza sativa)
    Liliopsida Os.78392 Transcribed sequence with moderate similarity to protein more 76.12(n)    CA764242.2 


    ENSEMBL Gene Tree for UFSP2 (if available)
    TreeFam Gene Tree for UFSP2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UFSP2 gene
    UFSP12  
    1 SIMAP similar gene for UFSP2 using alignment to 7 protein entries:     UFSP2_HUMAN (see all proteins):
    UFSP1

    UFSP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for UFSP2
         1 CNV: 3530
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing UFSP2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    UFSP2 for disorders           About GeneDecksing

    OMIM gene information: 611482    OMIM disorders: --

    2 diseases for UFSP2:    About MalaCards
    primary open anle glaucoma    glaucoma


    Export disorders for UFSP2 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 UFSP2 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with UFSP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two novel ubiquitin-fold modifier 1 (Ufm1)-specific proteases, UfSP1 and UfSP2. (PubMed id 17182609)1, 3 Kang S.H....Chung C.H. (2007)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    8. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)
    9. Screening the proteins that interact with calpain in a human heart cDNA library using a yeast two-hybrid system. (PubMed id 12358155)1 Jiang L.Q....Chen L.Y. (2002)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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: 55325 HGNC: 25640 AceView: FLJ11200andDKFZp761O0113 Ensembl:ENSG00000109775 euGenes: HUgn55325
    ECgene: UFSP2 H-InvDB: UFSP2

    (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 UFSP2 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 UFSP2 gene:
    Search GeneIP for patents involving UFSP2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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