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 var... See more...

Aliases for UFSP2 Gene

Aliases for UFSP2 Gene

  • UFM1 Specific Peptidase 2 2 3 5
  • Ufm1-Specific Protease 2 3 4
  • C4orf20 3 4
  • Chromosome 4 Open Reading Frame 20 2
  • EC 3.4.22.- 4
  • EC 3.4.22 52
  • SEMDDR 3
  • 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

  • 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]

GeneCards Summary for UFSP2 Gene

UFSP2 (UFM1 Specific Peptidase 2) is a Protein Coding gene. Diseases associated with UFSP2 include Beukes Hip Dysplasia and Spondyloepimetaphyseal Dysplasia, Di Rocco Type. Gene Ontology (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 Summary 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.

Additional gene information for UFSP2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UFSP2 Gene

Genomics for UFSP2 Gene

GeneHancer (GH) Regulatory Elements for UFSP2 Gene

Promoters and enhancers for UFSP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J185425 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 557 +0.3 285 2.6 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 POLR2G SP1 BCLAF1 PHF8 UFSP2 C4orf47 lnc-C4orf47-1 LRP2BP lnc-LRP2BP-4
GH04J185394 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 59.5 +29.6 29643 4.1 EP300 FOXK2 ZBTB40 SIN3A NRF1 POLR2G USF1 SP1 NCOR1 GTF2E2 LRP2BP ANKRD37 NONHSAG039516.2 lnc-LRP2BP-1 C4orf47 UFSP2 PRIMPOL CFAP97
GH04J185383 Enhancer 1.2 FANTOM5 Ensembl ENCODE 36.9 +41.3 41289 3 ZNF217 CTBP1 NCOR1 SIN3A NFIC ARNT POLR2A TRIM24 CEBPG PBX2 UFSP2 LRP2BP ENSG00000250410 ANKRD37
GH04J184731 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 12.2 +692.5 692485 3.8 RXRA EP300 FOXK2 ZBTB40 ZNF217 SIN3A NRF1 TCF12 MYC POLR2G CENPU lnc-PRIMPOL-5 PRIMPOL SNX25 UFSP2 CFAP97 ENSG00000250410 lnc-ACSL1-5
GH04J185404 Enhancer 0.6 Ensembl 29 +20.2 20184 2 BCL11A BATF IRF4 ATF2 JUNB NFATC1 SPI1 NFIC CREM MEF2A C4orf47 UFSP2 LRP2BP lnc-LRP2BP-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UFSP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UFSP2

Top Transcription factor binding sites by QIAGEN in the UFSP2 gene promoter:
  • Brachyury
  • HOXA5
  • ISGF-3
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • STAT1

Genomic Locations for UFSP2 Gene

Genomic Locations for UFSP2 Gene
chr4:185,399,537-185,425,985
(GRCh38/hg38)
Size:
26,449 bases
Orientation:
Minus strand
chr4:186,320,694-186,347,139
(GRCh37/hg19)
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

Selected DME Specific Peptides for UFSP2 Gene

Q9NUQ7:
  • LILDPHY
  • TSKILFV
  • EIQQALVDAGDKPA
  • LAHTILGV
  • NAYHFPDE
  • DRPYFKR
  • YKDGYIRNPH
  • GRELANHF
  • EVQLVLNQL
  • LPHDRPY
  • GWGCAYRS
  • AYYNLCLPQRP
  • FVGSRQWIGS
  • LDPHYTG
  • GTPVMIGG

Post-translational modifications for UFSP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UFSP2 Gene

Antibody Products

  • Abcam antibodies for UFSP2

Domains & Families for UFSP2 Gene

Gene Families for UFSP2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for UFSP2 Gene

Blocks:
  • Protein of unknown function DUF1671
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UFSP2 Gene

GenScript: Design optimal peptide antigens:
  • Ufm1-specific protease 2 (UFSP2_HUMAN)

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

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 From GWAS Catalog for UFSP2 Gene

Gene Ontology (GO) - Molecular Function for UFSP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25219498
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016790 thiolester hydrolase activity IMP 25219498
genes like me logo Genes that share ontologies with UFSP2: view
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UFSP2

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UFSP2 gene
Compartment Confidence
nucleus 4
endoplasmic reticulum 4
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UFSP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm ISS --
GO:0005783 endoplasmic reticulum ISS --
genes like me logo Genes that share ontologies with UFSP2: view

Pathways & Interactions for UFSP2 Gene

PathCards logo

SuperPathways for UFSP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for UFSP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IMP 25219498
GO:0033146 regulation of intracellular estrogen receptor signaling pathway IMP 25219498
genes like me logo Genes that share ontologies with UFSP2: view

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

mRNA/cDNA for UFSP2 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UFSP2

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

Expression for UFSP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for UFSP2 Gene



Protein tissue co-expression partners for UFSP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UFSP2

SOURCE GeneReport for Unigene cluster for UFSP2 Gene:

Hs.713548

Evidence on tissue expression from TISSUES for UFSP2 Gene

  • Nervous system(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for UFSP2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with UFSP2: view

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 31 30
  • 99.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UFSP2 31 30
  • 90.76 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UFSP2 31 30
  • 90.5 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ufsp2 30
  • 84.09 (n)
mouse
(Mus musculus)
Mammalia Ufsp2 17 31 30
  • 83.66 (n)
oppossum
(Monodelphis domestica)
Mammalia UFSP2 31
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UFSP2 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves UFSP2 31 30
  • 75.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UFSP2 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ufsp2 30
  • 68.25 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16099 30
zebrafish
(Danio rerio)
Actinopterygii ufsp2 31 30
  • 63.1 (n)
OneToOne
wufb05c06 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011975 30
  • 51.92 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG16979 31 30
  • 50.78 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea odr-8 31
  • 28 (a)
OneToOne
wheat
(Triticum aestivum)
Liliopsida Ta.9740 30
rice
(Oryza sativa)
Liliopsida Os.7839 30
barley
(Hordeum vulgare)
Liliopsida Hv.7568 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 67 (a)
OneToOne
Cin.940 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.940 30
Species where no ortholog for UFSP2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for UFSP2: view image

Paralogs for UFSP2 Gene

Paralogs for UFSP2 Gene

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

  • UFSP2_HUMAN
  • D6R9J7_HUMAN
  • D6RA67_HUMAN
  • D6RB53_HUMAN
  • D6RGX2_HUMAN
  • H0Y9B0_HUMAN
  • H0YA18_HUMAN
genes like me logo Genes that share paralogs with UFSP2: view

Variants for UFSP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UFSP2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
709775 Benign: not provided 185,418,616(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
719672 Benign: not provided 185,403,521(-) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
720924 Benign: not provided 185,418,495(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
737877 Benign: not provided 185,413,853(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
746197 Likely Benign: not provided 185,418,667(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for UFSP2 Gene

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

Variant ID Type Subtype PubMed ID
esv2759309 CNV loss 17122850
esv3603492 CNV gain 21293372
esv3603493 CNV gain 21293372
esv3894088 CNV gain 25118596
nsv1033523 CNV gain 25217958
nsv428456 CNV gain+loss 18775914
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)

Additional Variant Information for UFSP2 Gene

Human Gene Mutation Database (HGMD)
UFSP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UFSP2

SNP Genotyping and Copy Number Assay Products

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

Disorders for UFSP2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for UFSP2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
beukes hip dysplasia
  • bhd
spondyloepimetaphyseal dysplasia, di rocco type
  • semddr
epiphyseal dysplasia, multiple, 6
  • edm6
schwartz-jampel syndrome, type 1
  • kniest-like dysplasia with pursed lips and ectopia lentis
smith-mccort dysplasia 1
  • smc1
- 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.
  • Spondyloepimetaphyseal dysplasia, Di Rocco type (SEMDDR) [MIM:617974]: A skeletal disorder characterized by short stature, joint pain, genu vara and spondyloepimetaphyseal dysplasia involving the hips, knees, ankles, wrists and hands. Patients also exhibit variable degrees of metaphysis and spine involvement. SEMDDR transmission pattern is consistent with autosomal dominant inheritance. {ECO:0000269 PubMed:28892125}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for 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. Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia. (PMID: 26428751) Watson CM … Wallis GA (South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2015) 3 4 54
  2. Modification of ASC1 by UFM1 is crucial for ERα transactivation and breast cancer development. (PMID: 25219498) Yoo HM … Chung CH (Molecular cell 2014) 3 4 54
  3. Two novel ubiquitin-fold modifier 1 (Ufm1)-specific proteases, UfSP1 and UfSP2. (PMID: 17182609) Kang SH … Chung CH (The Journal of biological chemistry 2007) 2 3 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for UFSP2 Gene

Sources for UFSP2 Gene