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DESI2 Gene(Protein Coding)

Desumoylating Isopeptidase 2

GCID:
GC01P244652
GIFtS:
43
Genes Participants
UDN Logo

Aliases for DESI2 Gene

Aliases for DESI2 Gene

  • Desumoylating Isopeptidase 2 2 3 5
  • Family With Sequence Similarity 152, Member A 2 3
  • PPPDE Peptidase Domain-Containing Protein 1 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.-.- 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. Diseases associated with DESI2 include Acute Pulmonary Heart Disease and Acute Cor Pulmonale. Gene Ontology (GO) annotations related to this gene include peptidase activity.

UniProtKB/Swiss-Prot for DESI2 Gene

  • Protease which may deconjugate SUMO from some substrate proteins.

Additional gene information for DESI2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DESI2 Gene

Genomics for DESI2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for DESI2 Gene

Promoters and enhancers for DESI2 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
GH01I244651 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.3 296 3.9 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 ZNF213 DESI2 HNRNPU LOC101928068 COX20 RPL37P8
GH01I244860 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 80.9 +210.6 210635 6.7 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF548 HNRNPU ENSG00000273175 DESI2 COX20 LOC101928068 ADSS CATSPERE
GH01I244832 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 38.6 +182.7 182663 6.4 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 COX20 DESI2 HNRNPU ADSS LOC101928068 AKT3
GH01I244046 Promoter/Enhancer 3 UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER 24 -603.2 -603240 7.4 HDGF PKNOX1 ARNT SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ZNF213 ZBTB18 DESI2 ENSG00000253326 COX20 AKT3 HNRNPU LINC01347 LOC101928068 ENSG00000236031 ADSS
GH01I244449 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.7 -201.6 -201599 3.6 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CATSPERE ADSS ENSG00000236031 HNRNPU DESI2 LOC101928068 COX20 LOC105373264
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DESI2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DESI2 Gene

Genomic Locations for DESI2 Gene
chr1:244,652,935-244,709,034
(GRCh38/hg38)
Size:
56,100 bases
Orientation:
Plus strand
chr1:244,816,237-244,872,335
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for DESI2 Gene

Proteins for DESI2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

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

    Protein Symbol:
    Q9BSY9-DESI2_HUMAN
    Recommended name:
    Desumoylating isopeptidase 2
    Protein Accession:
    Q9BSY9
    Secondary Accessions:
    • B1APK6
    • Q5VVC6
    • Q9NYS2
    • Q9Y3E4

    Protein attributes for DESI2 Gene

    Size:
    194 amino acids
    Molecular mass:
    21444 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD34141.1; Type=Frameshift; Positions=149, 175; Evidence={ECO:0000305}; Sequence=AAF42919.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for DESI2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DESI2 Gene

Protein Expression for DESI2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DESI2 Gene

No Post-translational modifications

Other Protein References for DESI2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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):
  • Predicted intracellular proteins

Protein Domains for DESI2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for DESI2 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for DESI2 Gene

UniProtKB/Swiss-Prot Function:
Protease which may deconjugate SUMO from some substrate proteins.

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:0008233 peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with DESI2: view

Phenotypes for DESI2 Gene

MGI mutant phenotypes for DESI2:
inferred from 1 alleles
GenomeRNAi human phenotypes for DESI2:
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

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
extracellular 1
nucleus 1
cytosol 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for DESI2 Gene

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

Pathways & Interactions for DESI2 Gene

SuperPathways for DESI2 Gene

PathCards logo More details on SuperPathways for DESI2
No Data Available

Gene Ontology (GO) - Biological Process for DESI2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis 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

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DESI2 Gene

(6) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(267) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DESI2 Gene

Desumoylating isopeptidase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
DESI2

Expression for DESI2 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for DESI2 Gene
mRNA expression by BioGPS for DESI2 GenemRNA expression by GTEx 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, PaxDb, and MOPED for DESI2 Gene



Protein tissue co-expression partners for DESI2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DESI2 Gene:

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 33 34
  • 98.23 (n)
oppossum
(Monodelphis domestica)
 Mammalia DESI2 34
  • 94 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia PPPDE1 33 34
  • 93.82 (n)
mouse
(Mus musculus)
 Mammalia Desi2 33 16 34
  • 90.72 (n)
rat
(Rattus norvegicus)
 Mammalia Desi2 33
  • 89.52 (n)
dog
(Canis familiaris)
 Mammalia DESI2 33 34
  • 89.26 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia DESI2 34
  • 83 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves DESI2 34
  • 95 (a)
 OneToOne
PPPDE1 33
  • 85.24 (n)
lizard
(Anolis carolinensis)
 Reptilia DESI2 34
  • 90 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia desi2 33
  • 76.91 (n)
Str.20134 33
zebrafish
(Danio rerio)
 Actinopterygii desi2 33 34
  • 77.37 (n)
sbcb238 33
fruit fly
(Drosophila melanogaster)
 Insecta CG7222 33 34
  • 62.22 (n)
CG12231 34
  • 37 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP012058 33
  • 61.38 (n)
worm
(Caenorhabditis elegans)
 Secernentea F36D4.5 33 34
  • 60.51 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT4G17486 33
  • 50.5 (n)
rice
(Oryza sativa)
 Liliopsida Os03g0100900 33
  • 51.56 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 60 (a)
 OneToOne
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.1830 33
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)

Paralogs for DESI2 Gene

Pseudogenes.org Pseudogenes for DESI2 Gene

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

No data available for Paralogs for DESI2 Gene

Variants for DESI2 Gene

Sequence variations from dbSNP and Humsavar for DESI2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000043606 -- 244,685,710(+) C/A intron_variant
rs1000069120 -- 244,687,317(+) TTTTTTT/TTTTTTTT intron_variant
rs1000274823 -- 244,706,842(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000284934 -- 244,707,044(+) C/A 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000294023 -- 244,680,567(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DESI2 Gene

Disorders for DESI2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DESI2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
acute pulmonary heart disease
  • acute pulmonary heart disease nos
acute cor pulmonale
- elite association - COSMIC cancer census association via MalaCards
Search DESI2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DESI2

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DESI2: view

No data available for 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 58
  2. DeSUMOylating isopeptidase: a second class of SUMO protease. (PMID: 22370726) Shin EJ … Yun Y (EMBO reports 2012) 2 3 58
  3. 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 58
  4. PPPDE1 is a novel deubiquitinase belonging to a cysteine isopeptidase family. (PMID: 28483520) Xie X … Chen H (Biochemical and biophysical research communications 2017) 3 58
  5. High Phosphorylation Status of AKT/mTOR Signal in DESI2-Reduced Pancreatic Ductal Adenocarcinoma. (PMID: 25079376) Shen CC … Gou LT (Pathology oncology research : POR 2015) 3 58

Products for DESI2 Gene

Sources for DESI2 Gene

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