Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PSD2 Gene

Aliases for PSD2 Gene

  • Pleckstrin And Sec7 Domain Containing 2 2 3 5
  • Pleckstrin Homology And SEC7 Domain-Containing Protein 2 3 4
  • PH And SEC7 Domain-Containing Protein 2 3
  • EC 2.5.1.6 61
  • EC 3.6.1 61
  • EFA6C 3

External Ids for PSD2 Gene

Previous GeneCards Identifiers for PSD2 Gene

  • GC00U916997
  • GC05P139155
  • GC05P134332
  • GC05P139175
  • GC05P139795

Summaries for PSD2 Gene

GeneCards Summary for PSD2 Gene

PSD2 (Pleckstrin And Sec7 Domain Containing 2) is a Protein Coding gene. Among its related pathways are Endocytosis. GO annotations related to this gene include phospholipid binding and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is PSD.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSD2 Gene

Genomics for PSD2 Gene

Regulatory Elements for PSD2 Gene

Enhancers for PSD2 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
GH05G139763 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.7 +43.2 43181 2.6 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A ZNF2 ZBTB7B SLC30A9 ZNF143 PSD2 CXXC5 DNAJC18 IGIP NRG2 PIR36769 ENSG00000271792
GH05G139744 1.6 Ensembl ENCODE dbSUPER 11.7 +24.5 24498 4.7 HDGF PKNOX1 CREB3L1 FEZF1 DMAP1 YBX1 ZNF2 YY1 ZNF416 ZNF143 PSD2 PURA PSD2-AS1 PIR36769
GH05G139683 2 FANTOM5 Ensembl ENCODE dbSUPER 8.9 -29.0 -29044 18.9 HDGF PKNOX1 FOXA2 ARNT AGO1 ARID4B DMAP1 FEZF1 ZNF2 YY1 CXXC5 PURA PSD2 TMEM173 DNAJC18 IGIP NRG2 ENSG00000249526 RNU6-236P GC05M139718
GH05G139633 2.1 FANTOM5 Ensembl ENCODE dbSUPER 8.1 -68.5 -68538 40.3 MLX CREB3L1 AGO1 ZFP64 YBX1 DMAP1 FEZF1 YY1 ZNF143 ZNF263 DNAJC18 TMEM173 PSD2 LOC105379194 CXXC5 MZB1 NRG2 IGIP MATR3 PAIP2
GH05G139742 1.3 Ensembl ENCODE dbSUPER 11.7 +20.7 20705 1.1 ELF3 PKNOX1 FOXA2 PTBP1 ARID4B DMAP1 ZNF48 ZSCAN9 RARA MIXL1 PSD2 PSD2-AS1 GC05M139726
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PSD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PSD2 Gene

Chromosome:
5
Start:
139,721,903 bp from pter
End:
139,844,466 bp from pter
Size:
122,564 bases
Orientation:
Plus strand

Genomic View for PSD2 Gene

Genes around PSD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSD2 Gene

Proteins for PSD2 Gene

  • Protein details for PSD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQI7-PSD2_HUMAN
    Recommended name:
    PH and SEC7 domain-containing protein 2
    Protein Accession:
    Q9BQI7
    Secondary Accessions:
    • D3DQD3
    • Q8N3J8

    Protein attributes for PSD2 Gene

    Size:
    771 amino acids
    Molecular mass:
    84660 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PSD2 Gene

Selected DME Specific Peptides for PSD2 Gene

Q9BQI7:
  • KRTPRGR
  • AHRLARRL

Post-translational modifications for PSD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PSD2 Gene

Domains & Families for PSD2 Gene

Gene Families for PSD2 Gene

Suggested Antigen Peptide Sequences for PSD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BQI7

UniProtKB/Swiss-Prot:

PSD2_HUMAN :
  • Belongs to the PSD family.
Family:
  • Belongs to the PSD family.
genes like me logo Genes that share domains with PSD2: view

Function for PSD2 Gene

Enzyme Numbers (IUBMB) for PSD2 Gene

Gene Ontology (GO) - Molecular Function for PSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005086 ARF guanyl-nucleotide exchange factor activity IEA --
GO:0005543 phospholipid binding IEA --
genes like me logo Genes that share ontologies with PSD2: view
genes like me logo Genes that share phenotypes with PSD2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PSD2

No data available for Molecular function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSD2 Gene

Localization for PSD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PSD2 Gene

Membrane; Single-pass membrane protein.

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 PSD2 gene
Compartment Confidence
plasma membrane 4
nucleus 3
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030425 dendrite IEA --
GO:0032154 cleavage furrow ISS --
GO:0032587 ruffle membrane ISS --
genes like me logo Genes that share ontologies with PSD2: view

Pathways & Interactions for PSD2 Gene

SuperPathway Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with PSD2: view

Pathways by source for PSD2 Gene

1 KEGG pathway for PSD2 Gene

Gene Ontology (GO) - Biological Process for PSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032012 regulation of ARF protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with PSD2: view

No data available for SIGNOR curated interactions for PSD2 Gene

Drugs & Compounds for PSD2 Gene

No Compound Related Data Available

Transcripts for PSD2 Gene

mRNA/cDNA for PSD2 Gene

Unigene Clusters for PSD2 Gene

Pleckstrin and Sec7 domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PSD2

Alternative Splicing Database (ASD) splice patterns (SP) for PSD2 Gene

No ASD Table

Relevant External Links for PSD2 Gene

GeneLoc Exon Structure for
PSD2
ECgene alternative splicing isoforms for
PSD2

Expression for PSD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PSD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSD2 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x6.4), Brain - Putamen (basal ganglia) (x5.9), Brain - Nucleus accumbens (basal ganglia) (x5.5), Brain - Amygdala (x5.2), and Brain - Cortex (x4.3).

Protein differential expression in normal tissues from HIPED for PSD2 Gene

This gene is overexpressed in Fetal Brain (46.8) and Esophagus (17.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PSD2 Gene



Protein tissue co-expression partners for PSD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PSD2 Gene:

PSD2

SOURCE GeneReport for Unigene cluster for PSD2 Gene:

Hs.21963

Evidence on tissue expression from TISSUES for PSD2 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with PSD2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PSD2 Gene

Orthologs for PSD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PSD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSD2 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia PSD2 34 35
  • 88.85 (n)
cow
(Bos Taurus)
Mammalia PSD2 34 35
  • 88.63 (n)
rat
(Rattus norvegicus)
Mammalia Psd2 34
  • 85.83 (n)
mouse
(Mus musculus)
Mammalia Psd2 34 16 35
  • 85.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PSD2 35
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PSD2 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves PSD2 34 35
  • 73.54 (n)
lizard
(Anolis carolinensis)
Reptilia PSD2 35
  • 64 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii LOC557199 34
  • 69.18 (n)
BX005008.2 35
  • 56 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Efa6 35
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea efa-6 35
  • 24 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GEA1 35
  • 7 (a)
ManyToMany
GEA2 35
  • 7 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
OneToMany
Species where no ortholog for PSD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 (Oryza sativa)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PSD2 Gene

ENSEMBL:
Gene Tree for PSD2 (if available)
TreeFam:
Gene Tree for PSD2 (if available)

Paralogs for PSD2 Gene

Paralogs for PSD2 Gene

(3) SIMAP similar genes for PSD2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PSD2: view

Variants for PSD2 Gene

Sequence variations from dbSNP and Humsavar for PSD2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000012757 -- 139,684,938(+) AGGCA(A/G)CTTTC utr-variant-5-prime
rs1000015850 -- 139,789,923(+) AGCGC(C/T)GAAGG intron-variant
rs1000016351 -- 139,806,279(+) CAGGG(C/T)TGGAG intron-variant
rs1000048690 -- 139,772,029(+) CTTGG(C/T)TTGCT intron-variant
rs1000048847 -- 139,698,793(+) GAGGC(C/T)GGGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PSD2 Gene

Variant ID Type Subtype PubMed ID
dgv1650e212 CNV loss 25503493
esv3570450 CNV loss 25503493
esv3606942 CNV loss 21293372
nsv471051 CNV gain 18288195
nsv474629 CNV novel sequence insertion 20440878
nsv519808 CNV loss 19592680
nsv830506 CNV loss 17160897

Variation tolerance for PSD2 Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.71; 46.36% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSD2 Gene

Disorders for PSD2 Gene

Relevant External Links for PSD2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSD2

No disorders were found for PSD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PSD2 Gene

Publications for PSD2 Gene

  1. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4 64
  2. Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2. (PMID: 17148452) Cannavo E. … Jiricny J. (J. Biol. Chem. 2007) 3 64
  3. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4 64
  4. The LIFEdb database in 2006. (PMID: 16381901) Mehrle A. … Wiemann S. (Nucleic Acids Res. 2006) 3 64
  5. From ORFeome to biology: a functional genomics pipeline. (PMID: 15489336) Wiemann S. … Poustka A. (Genome Res. 2004) 3 64

Products for PSD2 Gene

Sources for PSD2 Gene

Content
Loading form....