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Aliases for UFSP2 Gene

Aliases for UFSP2 Gene

  • UFM1-Specific Peptidase 2 2 3 5
  • C4orf20 3 4
  • Chromosome 4 Open Reading Frame 20 2
  • EC 3.4.22.- 4
  • EC 3.4.22 63
  • UfSP2 4
  • BHD 3

External Ids for UFSP2 Gene

Previous HGNC Symbols for UFSP2 Gene

  • C4orf20

Previous GeneCards Identifiers for UFSP2 Gene

  • GC04M186559
  • GC04M186321
  • GC04M182074

Summaries for UFSP2 Gene

Entrez Gene Summary for UFSP2 Gene

  • 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]

GeneCards Summary for UFSP2 Gene

UFSP2 (UFM1-Specific Peptidase 2) is a Protein Coding gene. Diseases associated with UFSP2 include hip dysplasia, beukes type. GO annotations related to this gene include thiolester hydrolase activity and ubiquitin-like protein-specific protease activity. An important paralog of this gene is UFSP1.

UniProtKB/Swiss-Prot for UFSP2 Gene

  • Thiol protease which recognizes and hydrolyzes the peptide bond at the C-terminal Gly of UFM1, a ubiquitin-like modifier protein bound to a number of target proteins. Does not hydrolyze SUMO1 or ISG15 ubiquitin-like proteins. Through TRIP4 deufmylation may regulate intracellular nuclear receptors transactivation and thereby regulate cell proliferation and differentiation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UFSP2 Gene

Genomics for UFSP2 Gene

Regulatory Elements for UFSP2 Gene

Promoters for UFSP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around UFSP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for UFSP2 Gene

Chromosome:
4
Start:
185,399,540 bp from pter
End:
185,425,985 bp from pter
Size:
26,446 bases
Orientation:
Minus strand

Genomic View for UFSP2 Gene

Genes around UFSP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UFSP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UFSP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UFSP2 Gene

Proteins for UFSP2 Gene

  • Protein details for UFSP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUQ7-UFSP2_HUMAN
    Recommended name:
    Ufm1-specific protease 2
    Protein Accession:
    Q9NUQ7
    Secondary Accessions:
    • Q6IA77
    • Q96FS3

    Protein attributes for UFSP2 Gene

    Size:
    469 amino acids
    Molecular mass:
    53261 Da
    Quaternary structure:
    • Interacts with DDRGK1 (By similarity). Interacts with TRIP4; deufmylates TRIP4 (PubMed:25219498).

neXtProt entry for UFSP2 Gene

Proteomics data for UFSP2 Gene at MOPED

Post-translational modifications for UFSP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UFSP2 Gene

Domains & Families for UFSP2 Gene

Protein Domains for UFSP2 Gene

Suggested Antigen Peptide Sequences for UFSP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NUQ7

UniProtKB/Swiss-Prot:

UFSP2_HUMAN :
  • Belongs to the peptidase C78 family.
Family:
  • Belongs to the peptidase C78 family.
genes like me logo Genes that share domains with UFSP2: view

No data available for Gene Families for UFSP2 Gene

Function for UFSP2 Gene

Molecular function for UFSP2 Gene

UniProtKB/Swiss-Prot Function:
Thiol protease which recognizes and hydrolyzes the peptide bond at the C-terminal Gly of UFM1, a ubiquitin-like modifier protein bound to a number of target proteins. Does not hydrolyze SUMO1 or ISG15 ubiquitin-like proteins. Through TRIP4 deufmylation may regulate intracellular nuclear receptors transactivation and thereby regulate cell proliferation and differentiation.

Enzyme Numbers (IUBMB) for UFSP2 Gene

Phenotypes for UFSP2 Gene

genes like me logo Genes that share phenotypes with UFSP2: view

Human Phenotype Ontology for UFSP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for UFSP2 Gene

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for UFSP2 Gene

Localization for UFSP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UFSP2 Gene

Cytoplasm. Endoplasmic reticulum. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UFSP2 Gene COMPARTMENTS Subcellular localization image for UFSP2 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
cytosol 2
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for UFSP2 Gene

Pathways & Interactions for UFSP2 Gene

SuperPathways for UFSP2 Gene

No Data Available

Interacting Proteins for UFSP2 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000264689%0d%0a9606.ENSP00000339404%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000287859%0d%0a
Selected Interacting proteins: ENSP00000264689 Q9NUQ7-UFSP2_HUMAN for UFSP2 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for UFSP2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for UFSP2 Gene

Drugs & Compounds for UFSP2 Gene

No Compound Related Data Available

Transcripts for UFSP2 Gene

Unigene Clusters for UFSP2 Gene

UFM1-specific peptidase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for UFSP2 Gene

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

Relevant External Links for UFSP2 Gene

GeneLoc Exon Structure for
UFSP2
ECgene alternative splicing isoforms for
UFSP2

Expression for UFSP2 Gene

mRNA expression in normal human tissues for UFSP2 Gene

Protein differential expression in normal tissues from HIPED for UFSP2 Gene

This gene is overexpressed in Placenta (8.3), Islet of Langerhans (6.8), and Stomach (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for UFSP2 Gene



SOURCE GeneReport for Unigene cluster for UFSP2 Gene Hs.713548

genes like me logo Genes that share expression patterns with UFSP2: view

Protein tissue co-expression partners for UFSP2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for UFSP2 Gene

Orthologs for UFSP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UFSP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UFSP2 35
  • 99.57 (n)
  • 100 (a)
UFSP2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UFSP2 36
  • 94 (a)
OneToOne
UFSP2 35
  • 90.76 (n)
  • 93.82 (a)
dog
(Canis familiaris)
Mammalia UFSP2 35
  • 90.5 (n)
  • 92.66 (a)
UFSP2 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ufsp2 36
  • 85 (a)
OneToOne
Ufsp2 16
Ufsp2 35
  • 83.66 (n)
  • 84.82 (a)
oppossum
(Monodelphis domestica)
Mammalia UFSP2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UFSP2 36
  • 79 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ufsp2 35
  • 84.09 (n)
  • 84.6 (a)
chicken
(Gallus gallus)
Aves UFSP2 36
  • 77 (a)
OneToOne
UFSP2 35
  • 75.58 (n)
  • 76.09 (a)
lizard
(Anolis carolinensis)
Reptilia UFSP2 36
  • 74 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16099 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ufsp2 35
  • 68.25 (n)
  • 66.16 (a)
zebrafish
(Danio rerio)
Actinopterygii ufsp2 36
  • 58 (a)
OneToOne
ufsp2 35
  • 63.1 (n)
  • 62.76 (a)
wufb05c06 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011975 35
  • 51.92 (n)
  • 50.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG16979 36
  • 29 (a)
OneToOne
CG16979 35
  • 50.78 (n)
  • 48.91 (a)
worm
(Caenorhabditis elegans)
Secernentea odr-8 36
  • 28 (a)
OneToOne
barley
(Hordeum vulgare)
Liliopsida Hv.7568 35
rice
(Oryza sativa)
Liliopsida Os.7839 35
wheat
(Triticum aestivum)
Liliopsida Ta.9740 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.940 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 67 (a)
OneToOne
Species with no ortholog for UFSP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for UFSP2 Gene

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

Paralogs for UFSP2 Gene

Paralogs for UFSP2 Gene

(1) SIMAP similar genes for UFSP2 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with UFSP2: view

Variants for UFSP2 Gene

Sequence variations from dbSNP and Humsavar for UFSP2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_031126 -
VAR_074673 Beukes familial hip dysplasia (BFHD)
rs6552880 -- 185,402,439(+) GACTT(C/T)AGTAA intron-variant
rs10005827 -- 185,401,833(+) CCTTA(C/T)CTAGA intron-variant
rs35030160 -- 185,401,420(+) TTTTT(-/T)GATCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for UFSP2 Gene

Variant ID Type Subtype PubMed ID
nsv428456 CNV Gain+Loss 18775914
nsv881506 CNV Gain 21882294
dgv1724e1 CNV Complex 17122850
nsv527026 CNV Gain 19592680

Variation tolerance for UFSP2 Gene

Residual Variation Intolerance Score: 27.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.44; 54.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UFSP2 Gene

HapMap Linkage Disequilibrium report
UFSP2
Human Gene Mutation Database (HGMD)
UFSP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UFSP2 Gene

Disorders for UFSP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for UFSP2 Gene - From: OMIM, Orphanet, and Swiss-Prot

Disorder Aliases PubMed IDs
hip dysplasia, beukes type
  • beukes familial hip dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search UFSP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UFSP2_HUMAN
  • Beukes familial hip dysplasia (BFHD) [MIM:142669]: A severe progressive degenerative osteoarthritis of the hip joint with underlying dysplasia confined to that region. Affected individuals are of normal stature and have no associated health problems. {ECO:0000269 PubMed:26428751}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for UFSP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UFSP2
genes like me logo Genes that share disorders with UFSP2: view

No data available for Genatlas for UFSP2 Gene

Publications for UFSP2 Gene

  1. Modification of ASC1 by UFM1 is crucial for ERalpha transactivation and breast cancer development. (PMID: 25219498) Yoo H.M. … Chung C.H. (Mol. Cell 2014) 3 4 67
  2. Two novel ubiquitin-fold modifier 1 (Ufm1)-specific proteases, UfSP1 and UfSP2. (PMID: 17182609) Kang S.H. … Chung C.H. (J. Biol. Chem. 2007) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PMID: 22990118) Woods N.T. … Monteiro A.N. (Sci Signal 2012) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for UFSP2 Gene

Sources for UFSP2 Gene

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