Human Gene UFSP2 (uc003ixo.2)
  Description: Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA.
RefSeq Summary (NM_018359): This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016].
Transcript (Including UTRs)
   Position: hg19 chr4:186,320,694-186,347,139 Size: 26,446 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr4:186,321,546-186,347,022 Size: 25,477 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:186,320,694-186,347,139)mRNA (may differ from genome)Protein (469 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: UFSP2_HUMAN
DESCRIPTION: RecName: Full=Ufm1-specific protease 2; Short=UfSP2; EC=3.4.22.-;
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).
SUBUNIT: Interacts with DDRGK1 (By similarity).
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Endoplasmic reticulum (By similarity). Nucleus (By similarity).
SIMILARITY: Belongs to the peptidase C78 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: UFSP2
Diseases sorted by gene-association score: hip dysplasia, beukes type* (1600)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.06 RPKM in Testis
Total median expression: 693.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.30117-0.464 Picture PostScript Text
3' UTR -196.62852-0.231 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012462 - Peptidase_C78_UfSP1/2

Pfam Domains:
PF07910 - Peptidase family C78

ModBase Predicted Comparative 3D Structure on Q9NUQ7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
      
      
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008234 cysteine-type peptidase activity
GO:0016787 hydrolase activity
GO:0016790 thiolester hydrolase activity
GO:0071567 UFM1 hydrolase activity

Biological Process:
GO:0006508 proteolysis
GO:0033146 regulation of intracellular estrogen receptor signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum


-  Descriptions from all associated GenBank mRNAs
  LF384366 - JP 2014500723-A/191869: Polycomb-Associated Non-Coding RNAs.
AK091635 - Homo sapiens cDNA FLJ34316 fis, clone FEBRA2008459.
JD083631 - Sequence 64655 from Patent EP1572962.
LF208102 - JP 2014500723-A/15605: Polycomb-Associated Non-Coding RNAs.
AK002062 - Homo sapiens cDNA FLJ11200 fis, clone PLACE1007725.
BC010493 - Homo sapiens UFM1-specific peptidase 2, mRNA (cDNA clone MGC:16982 IMAGE:3048997), complete cds.
JD037848 - Sequence 18872 from Patent EP1572962.
LF372372 - JP 2014500723-A/179875: Polycomb-Associated Non-Coding RNAs.
CR457278 - Homo sapiens full open reading frame cDNA clone RZPDo834C0713D for gene FLJ11200, hypothetical protein FLJ11200; complete cds, incl. stopcodon.
KJ894187 - Synthetic construct Homo sapiens clone ccsbBroadEn_03581 UFSP2 gene, encodes complete protein.
LF372370 - JP 2014500723-A/179873: Polycomb-Associated Non-Coding RNAs.
LF372368 - JP 2014500723-A/179871: Polycomb-Associated Non-Coding RNAs.
LF372366 - JP 2014500723-A/179869: Polycomb-Associated Non-Coding RNAs.
LF372364 - JP 2014500723-A/179867: Polycomb-Associated Non-Coding RNAs.
MA619943 - JP 2018138019-A/191869: Polycomb-Associated Non-Coding RNAs.
MA607949 - JP 2018138019-A/179875: Polycomb-Associated Non-Coding RNAs.
MA607947 - JP 2018138019-A/179873: Polycomb-Associated Non-Coding RNAs.
MA607945 - JP 2018138019-A/179871: Polycomb-Associated Non-Coding RNAs.
MA607943 - JP 2018138019-A/179869: Polycomb-Associated Non-Coding RNAs.
MA607941 - JP 2018138019-A/179867: Polycomb-Associated Non-Coding RNAs.
MA443679 - JP 2018138019-A/15605: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: C4orf20, NM_018359, NP_060829, Q6IA77, Q96FS3, Q9NUQ7, UFSP2_HUMAN
UCSC ID: uc003ixo.2
RefSeq Accession: NM_018359
Protein: Q9NUQ7 (aka UFSP2_HUMAN)
CCDS: CCDS3842.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_018359.3
exon count: 12CDS single in 3' UTR: no RNA size: 2379
ORF size: 1410CDS single in intron: no Alignment % ID: 99.96
txCdsPredict score: 2933.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.