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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. GO annotations related to this gene include peptidase activity.

UniProtKB/Swiss-Prot for DESI2 Gene

  • Protease which may deconjugate SUMO from some substrate proteins.

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

Genomics for DESI2 Gene

Regulatory Elements for DESI2 Gene

Enhancers for DESI2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F244672 0.7 ENCODE 12.3 +20.5 20456 2.7 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 DESI2 RPL37P8
GH01F244613 0.4 ENCODE 11.6 -38.5 -38454 1.4 BHLHE40 INSM2 ZEB2 ATF2 ZNF335 ZNF121 FOSL1 JUND ZNF366 ATF3 DESI2 CYCSP5
GH01F244599 1.6 FANTOM5 Ensembl ENCODE 11 -53.0 -52974 1.7 PKNOX1 ATF1 SIN3A BRCA1 ZNF2 FOS DEK SP3 JUNB TSHZ1 DESI2 RPL37P8 ADSS EFCAB2 CYCSP5
GH01F244460 0.2 ENCODE 10.3 -191.6 -191632 2.4 PKNOX1 SIN3A FEZF1 GLI4 YY1 GLIS2 ZNF143 KLF7 SP3 YY2 C1orf101 DESI2 ADSS GC01M244569
GH01F244734 1 FANTOM5 ENCODE 7.6 +82.9 82874 2.3 CBX3 PKNOX1 ZNF680 TAL1 NR4A1 ZNF518A GLIS2 CBX5 GLIS1 PBX2 DESI2 ADSS ENSG00000282317 COX20
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DESI2 on UCSC Golden Path with GeneCards custom track

Promoters for DESI2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001530821 865 3601 HDGF ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143

Genomic Location for DESI2 Gene

Chromosome:
1
Start:
244,652,935 bp from pter
End:
244,709,034 bp from pter
Size:
56,100 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:
    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

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

Protein Domains for DESI2 Gene

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 :
  • Contains 1 PPPDE peptidase domain.
  • Belongs to the DeSI family.
Domain:
  • Contains 1 PPPDE peptidase domain.
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:
Protease which may deconjugate SUMO from some substrate proteins.

Enzyme Numbers (IUBMB) 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

miRNA for DESI2 Gene

miRTarBase miRNAs that target DESI2

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for DESI2 Gene COMPARTMENTS Subcellular localization image for DESI2 gene
Compartment Confidence
cytosol 1
extracellular 1

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

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

(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

Transcripts for DESI2 Gene

Unigene Clusters for DESI2 Gene

Desumoylating isopeptidase 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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

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, 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
genes like me logo Genes that share expression patterns with DESI2: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 34 35
  • 98.23 (n)
oppossum
(Monodelphis domestica)
Mammalia DESI2 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PPPDE1 34 35
  • 93.82 (n)
mouse
(Mus musculus)
Mammalia Desi2 34 16 35
  • 90.72 (n)
rat
(Rattus norvegicus)
Mammalia Desi2 34
  • 89.52 (n)
dog
(Canis familiaris)
Mammalia DESI2 34 35
  • 89.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DESI2 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves DESI2 35
  • 95 (a)
OneToOne
PPPDE1 34
  • 85.24 (n)
lizard
(Anolis carolinensis)
Reptilia DESI2 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia desi2 34
  • 76.91 (n)
Str.20134 34
zebrafish
(Danio rerio)
Actinopterygii desi2 34 35
  • 77.37 (n)
sbcb238 34
fruit fly
(Drosophila melanogaster)
Insecta CG7222 34 35
  • 62.22 (n)
CG12231 35
  • 37 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012058 34
  • 61.38 (n)
worm
(Caenorhabditis elegans)
Secernentea F36D4.5 34 35
  • 60.51 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G17486 34
  • 50.5 (n)
rice
(Oryza sativa)
Liliopsida Os03g0100900 34
  • 51.56 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 60 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1830 34
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 Sequence Context AA Info Type
rs1021787 -- 244,655,394(+) GGAAT(A/G)ATAAA intron-variant
rs10543739 -- 244,679,889(+) AAAAA(-/AAAAAA)GACAT intron-variant, upstream-variant-2KB
rs10553169 -- 244,659,033(+) CCATC(-/T)TTTTT intron-variant
rs10599909 -- 244,660,168(+) TTGTT(G/T)TTTTG intron-variant
rs10686967 -- 244,704,665(+) GTGTG(-/TG)AGACG intron-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)

Relevant External Links 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

Relevant External Links for DESI2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 C.-H. … Lin W.-C. (Genome Res. 2000) 2 3 4 64
  2. DeSUMOylating isopeptidase: a second class of SUMO protease. (PMID: 22370726) Shin E.J. … Yun Y. (EMBO Rep. 2012) 2 3 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. High Phosphorylation Status of AKT/mTOR Signal in DESI2-Reduced Pancreatic Ductal Adenocarcinoma. (PMID: 25079376) Shen C.C. … Gou L.T. (Pathol. Oncol. Res. 2015) 3 64
  5. PNAS-4, an Early DNA Damage Response Gene, Induces S Phase Arrest and Apoptosis by Activating Checkpoint Kinases in Lung Cancer Cells. (PMID: 25918161) Yuan Z. … Wei Y. (J. Biol. Chem. 2015) 3 64

Products for DESI2 Gene

Sources for DESI2 Gene

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