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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 , 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
GH05F139763 1.7 FANTOM5 Ensembl ENCODE 20.6 +43.2 43198 2.6 PKNOX1 CREB3L1 ARID4B SIN3A ZNF2 SLC30A9 ZNF143 ZNF207 FOS KLF13 PSD2 CXXC5 DNAJC18 IGIP NRG2 PIR36769 ENSG00000271792
GH05F139768 0.6 Ensembl 12.6 +47.3 47298 0.8 PKNOX1 JUN SIN3A ZKSCAN1 ZNF664 CTBP1 GATA3 ZNF600 RCOR1 FOS PSD2 CXXC5 ENSG00000271792 PIR36769
GH05F139847 0.6 ENCODE 12 +126.6 126631 1.3 POLR2A HLF PSD2 ENSG00000250692 PIR37280
GH05F139828 0.7 FANTOM5 11.7 +106.9 106863 0.3 ZFHX2 ZBTB8A ZNF18 PSD2 ENSG00000250692 ENSG00000251387
GH05F139742 0.9 Ensembl ENCODE 11.6 +20.8 20836 1.3 HDGF ELF3 PKNOX1 ARID4B DMAP1 ZNF48 ZSCAN9 RARA GLIS2 MIXL1 PSD2 LOC105378196 PSD2-AS1
- Elite enhancer/Elite enhancer-gene association Download Table
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

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 :
  • Contains 1 PH domain.
  • Belongs to the PSD family.
Domain:
  • Contains 1 PH domain.
  • Contains 1 SEC7 domain.
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

Inhibitory RNA Products

Flow Cytometry Products

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
Jensen Localization Image for PSD2 Gene COMPARTMENTS Subcellular localization image for PSD2 gene
Compartment Confidence
cytosol 3
nucleus 3

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:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with PSD2: view

Pathways & Interactions for PSD2 Gene

SuperPathways 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

Transcripts for PSD2 Gene

mRNA/cDNA for PSD2 Gene

Unigene Clusters for PSD2 Gene

Pleckstrin and Sec7 domain containing 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 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
genes like me logo Genes that share expression patterns with PSD2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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
rs10040075 -- 139,785,228(+) tccct(C/T)cctTC intron-variant
rs10042415 -- 139,693,066(+) GACCC(A/T)GCGGC intron-variant
rs10042524 -- 139,693,468(+) AATAC(C/T)AGGGA intron-variant
rs10051390 -- 139,683,743(+) TGGTG(A/G)GGGTG upstream-variant-2KB, utr-variant-3-prime
rs10053057 -- 139,690,076(+) GGGCT(C/G)AGGAC 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

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