Aliases for DESI2 Gene

Aliases for DESI2 Gene

  • Desumoylating Isopeptidase 2 2 3 4 5
  • Family With Sequence Similarity 152, Member A 2 3
  • PPPDE Peptidase Domain-Containing Protein 1 3 4
  • Deubiquitinase DESI2 3 4
  • C1orf121 3 4
  • FAM152A 3 4
  • PPPDE1 3 4
  • DeSI-2 3 4
  • Chromosome 1 Open Reading Frame 121 2
  • PPPDE Peptidase Domain Containing 1 2
  • Desumoylating Isopeptidase 1 3
  • Protein FAM152A 4
  • EC 3.4.19.12 4
  • CGI-146 3
  • PNAS-4 3
  • DESI1 3
  • DESI 3

External Ids for DESI2 Gene

Previous HGNC Symbols for DESI2 Gene

  • C1orf121
  • FAM152A
  • PPPDE1

Previous GeneCards Identifiers for DESI2 Gene

  • GC01P244817

Summaries for DESI2 Gene

GeneCards Summary for DESI2 Gene

DESI2 (Desumoylating Isopeptidase 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include peptidase activity. An important paralog of this gene is DESI1.

UniProtKB/Swiss-Prot Summary for DESI2 Gene

  • Has deubiquitinating activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Deubiquitinates 'Lys-48'-linked polyubiquitination of RPS7 leading to its stabilization (PubMed:28483520).

Additional gene information for DESI2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DESI2 Gene

Genomics for DESI2 Gene

GeneHancer (GH) Regulatory Elements for DESI2 Gene

Promoters and enhancers for DESI2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DESI2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DESI2

Genomic Locations for DESI2 Gene

Genomic Locations for DESI2 Gene
chr1:244,653,048-244,709,034
(GRCh38/hg38)
Size:
55,987 bases
Orientation:
Plus strand
chr1:244,816,237-244,872,335
(GRCh37/hg19)
Size:
56,099 bases
Orientation:
Plus strand

Genomic View for DESI2 Gene

Genes around DESI2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DESI2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DESI2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DESI2 Gene

Proteins for DESI2 Gene

  • Protein details for DESI2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSY9-DESI2_HUMAN
    Recommended name:
    Deubiquitinase DESI2
    Protein Accession:
    Q9BSY9
    Secondary Accessions:
    • B1APK6
    • Q5VVC6
    • Q9NYS2
    • Q9Y3E4

    Protein attributes for DESI2 Gene

    Size:
    194 amino acids
    Molecular mass:
    21444 Da
    Quaternary structure:
    • Interacts with RPS7.
    SequenceCaution:
    • Sequence=AAD34141.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAF42919.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for DESI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DESI2 Gene

Post-translational modifications for DESI2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DESI2 Gene

No data available for DME Specific Peptides for DESI2 Gene

Domains & Families for DESI2 Gene

Gene Families for DESI2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for DESI2 Gene

Blocks:
  • Eukaryotic protein of unknown function DUF862
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DESI2 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM152A (PPDE1_HUMAN)
  • PPPDE1 protein (Q8WUE8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BSY9

UniProtKB/Swiss-Prot:

DESI2_HUMAN :
  • Belongs to the DeSI family.
Family:
  • Belongs to the DeSI family.
genes like me logo Genes that share domains with DESI2: view

Function for DESI2 Gene

Molecular function for DESI2 Gene

UniProtKB/Swiss-Prot Function:
Has deubiquitinating activity towards 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. Deubiquitinates 'Lys-48'-linked polyubiquitination of RPS7 leading to its stabilization (PubMed:28483520).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Evidence=. ;.

Enzyme Numbers (IUBMB) for DESI2 Gene

Phenotypes From GWAS Catalog for DESI2 Gene

Gene Ontology (GO) - Molecular Function for DESI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28483520
GO:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0036459 thiol-dependent ubiquitinyl hydrolase activity IEA --
GO:0061578 Lys63-specific deubiquitinase activity IMP 28483520
genes like me logo Genes that share ontologies with DESI2: view

Phenotypes for DESI2 Gene

genes like me logo Genes that share phenotypes with DESI2: view

Animal Models for DESI2 Gene

MGI Knock Outs for DESI2:

Animal Model Products

CRISPR Products

miRNA for DESI2 Gene

miRTarBase miRNAs that target DESI2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DESI2

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DESI2 Gene

Localization for DESI2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DESI2 Gene

Cytoplasm.

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 DESI2 gene
Compartment Confidence
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DESI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with DESI2: view

Pathways & Interactions for DESI2 Gene

PathCards logo

SuperPathways for DESI2 Gene

No Data Available

Interacting Proteins for DESI2 Gene

;

Gene Ontology (GO) - Biological Process for DESI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0070536 protein K63-linked deubiquitination IEA --
GO:0071108 protein K48-linked deubiquitination IEA --
genes like me logo Genes that share ontologies with DESI2: view

No data available for Pathways by source and SIGNOR curated interactions for DESI2 Gene

Drugs & Compounds for DESI2 Gene

(1) Drugs for DESI2 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NSC 632839 hydrochloride Pharma Isopeptidases inhibitor 0

(1) ApexBio Compounds for DESI2 Gene

Compound Action Cas Number
NSC 632839 hydrochloride Isopeptidases inhibitor 157654-67-6
genes like me logo Genes that share compounds with DESI2: view

Drug Products

Transcripts for DESI2 Gene

mRNA/cDNA for DESI2 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
4 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 DESI2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DESI2 Gene

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

Relevant External Links for DESI2 Gene

GeneLoc Exon Structure for
DESI2

Expression for DESI2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DESI2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DESI2 Gene

This gene is overexpressed in Pancreas (24.5), Retina (10.3), Testis (9.8), Fetal heart (8.3), Fetal testis (8.2), and Ovary (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DESI2 Gene



Protein tissue co-expression partners for DESI2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DESI2

SOURCE GeneReport for Unigene cluster for DESI2 Gene:

Hs.498317

Evidence on tissue expression from TISSUES for DESI2 Gene

  • Skin(4.4)
  • Nervous system(2.9)
  • Lung(2.6)
genes like me logo Genes that share expression patterns with DESI2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DESI2 Gene

Orthologs for DESI2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DESI2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DESI2 31 30
  • 98.23 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DESI2 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PPPDE1 31 30
  • 93.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Desi2 17 31 30
  • 90.72 (n)
rat
(Rattus norvegicus)
Mammalia Desi2 30
  • 89.52 (n)
dog
(Canis familiaris)
Mammalia DESI2 31 30
  • 89.26 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DESI2 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves DESI2 31
  • 95 (a)
OneToOne
PPPDE1 30
  • 85.24 (n)
lizard
(Anolis carolinensis)
Reptilia DESI2 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia desi2 30
  • 76.91 (n)
Str.20134 30
zebrafish
(Danio rerio)
Actinopterygii desi2 31 30
  • 77.37 (n)
OneToOne
sbcb238 30
fruit fly
(Drosophila melanogaster)
Insecta CG7222 31 30
  • 62.22 (n)
OneToMany
CG12231 31
  • 37 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012058 30
  • 61.38 (n)
worm
(Caenorhabditis elegans)
Secernentea F36D4.5 31 30
  • 60.51 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G17486 30
  • 50.5 (n)
rice
(Oryza sativa)
Liliopsida Os03g0100900 30
  • 51.56 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 60 (a)
OneToOne
Cin.1830 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1830 30
Species where no ortholog for DESI2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DESI2 Gene

ENSEMBL:
Gene Tree for DESI2 (if available)
TreeFam:
Gene Tree for DESI2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DESI2: view image

Paralogs for DESI2 Gene

Paralogs for DESI2 Gene

Pseudogenes.org Pseudogenes for DESI2 Gene

genes like me logo Genes that share paralogs with DESI2: view

Variants for DESI2 Gene

Additional dbSNP identifiers (rs#s) for DESI2 Gene

Structural Variations from Database of Genomic Variants (DGV) for DESI2 Gene

Variant ID Type Subtype PubMed ID
esv3578521 CNV loss 25503493
nsv5154 CNV insertion 18451855
nsv5165 CNV insertion 18451855
nsv528017 CNV gain 19592680

Variation tolerance for DESI2 Gene

Residual Variation Intolerance Score: 49.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.43; 9.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DESI2 Gene

Human Gene Mutation Database (HGMD)
DESI2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DESI2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DESI2 Gene

Disorders for DESI2 Gene

Additional Disease Information for DESI2

No disorders were found for DESI2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DESI2 Gene

Publications for DESI2 Gene

  1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 2 3 4 54
  2. PPPDE1 is a novel deubiquitinase belonging to a cysteine isopeptidase family. (PMID: 28483520) Xie X … Chen H (Biochemical and biophysical research communications 2017) 3 4 54
  3. DeSUMOylating isopeptidase: a second class of SUMO protease. (PMID: 22370726) Shin EJ … Yun Y (EMBO reports 2012) 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. Desumoylating Isopeptidase 2 (DESI2) Inhibits Proliferation and Promotes Apoptosis of Pancreatic Cancer Cells through Regulating PI3K/AKT/mTOR Signaling Pathway. (PMID: 30411297) Ou X … Liu XP (Pathology oncology research : POR 2019) 3 54

Products for DESI2 Gene

Sources for DESI2 Gene