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Aliases for PACSIN2 Gene

Aliases for PACSIN2 Gene

  • Protein Kinase C And Casein Kinase Substrate In Neurons 2 2 3 5
  • Syndapin II 2 3
  • Syndapin-II 3 4
  • Syndapin-2 3 4
  • Cytoplasmic Phosphoprotein PACSIN2 3
  • Syndapin 2 3
  • Syndapin2 3
  • SDPII 3

External Ids for PACSIN2 Gene

Previous GeneCards Identifiers for PACSIN2 Gene

  • GC22M039868
  • GC22M041496
  • GC22M041590
  • GC22M043243
  • GC22M026224

Summaries for PACSIN2 Gene

Entrez Gene Summary for PACSIN2 Gene

  • This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation by regulating tubulin polymerization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

GeneCards Summary for PACSIN2 Gene

PACSIN2 (Protein Kinase C And Casein Kinase Substrate In Neurons 2) is a Protein Coding gene. GO annotations related to this gene include identical protein binding and lipid binding. An important paralog of this gene is PACSIN1.

UniProtKB/Swiss-Prot for PACSIN2 Gene

  • Lipid-binding protein that is able to promote the tubulation of the phosphatidic acid-containing membranes it preferentially binds. Plays a role in intracellular vesicle-mediated transport. Involved in the endocytosis of cell-surface receptors like the EGF receptor, contributing to its internalization in the absence of EGF stimulus. May also play a role in the formation of caveolae at the cell membrane. Recruits DNM2 to caveolae, and thereby plays a role in caveola-mediated endocytosis.

Gene Wiki entry for PACSIN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PACSIN2 Gene

Genomics for PACSIN2 Gene

Regulatory Elements for PACSIN2 Gene

Enhancers for PACSIN2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PACSIN2 on UCSC Golden Path with GeneCards custom track

Promoters for PACSIN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PACSIN2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PACSIN2 Gene

Chromosome:
22
Start:
42,835,412 bp from pter
End:
43,015,690 bp from pter
Size:
180,279 bases
Orientation:
Minus strand

Genomic View for PACSIN2 Gene

Genes around PACSIN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PACSIN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PACSIN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PACSIN2 Gene

Proteins for PACSIN2 Gene

  • Protein details for PACSIN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UNF0-PACN2_HUMAN
    Recommended name:
    Protein kinase C and casein kinase substrate in neurons protein 2
    Protein Accession:
    Q9UNF0
    Secondary Accessions:
    • O95921
    • Q96HV9
    • Q9H0D3
    • Q9NPN1
    • Q9Y4V2

    Protein attributes for PACSIN2 Gene

    Size:
    486 amino acids
    Molecular mass:
    55739 Da
    Quaternary structure:
    • Homodimer. May form heterooligomers with other PACSINs. Interacts (via NPF motifs) with EHD1 (via EH domain). Interacts with EHD3. Interacts (via the SH3 domain) with MICALL1. Interacts with RAC1. Interacts (via SH3 domain) with DNM1, SYN1, SYNJ1 and WASL. Interacts with CAV1. Interacts with TRPV4.

    Three dimensional structures from OCA and Proteopedia for PACSIN2 Gene

    Alternative splice isoforms for PACSIN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PACSIN2 Gene

Proteomics data for PACSIN2 Gene at MOPED

Post-translational modifications for PACSIN2 Gene

  • Phosphorylated by casein kinase 2 (CK2) and protein kinase C (PKC).
  • Ubiquitination at Lys 264
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for PACSIN2 Gene

Domains & Families for PACSIN2 Gene

Protein Domains for PACSIN2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UNF0

UniProtKB/Swiss-Prot:

PACN2_HUMAN :
  • The F-BAR domain forms a coiled coil and mediates membrane-binding and membrane tubulation. In the autoinhibited conformation, interaction with the SH3 domain inhibits membrane tubulation mediated by the F-BAR domain.
  • Belongs to the PACSIN family.
Domain:
  • The F-BAR domain forms a coiled coil and mediates membrane-binding and membrane tubulation. In the autoinhibited conformation, interaction with the SH3 domain inhibits membrane tubulation mediated by the F-BAR domain.
  • Contains 1 F-BAR domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the PACSIN family.
genes like me logo Genes that share domains with PACSIN2: view

No data available for Gene Families for PACSIN2 Gene

Function for PACSIN2 Gene

Molecular function for PACSIN2 Gene

GENATLAS Biochemistry:
protein kinase C and casein kinase substrate in neurons 2
UniProtKB/Swiss-Prot Function:
Lipid-binding protein that is able to promote the tubulation of the phosphatidic acid-containing membranes it preferentially binds. Plays a role in intracellular vesicle-mediated transport. Involved in the endocytosis of cell-surface receptors like the EGF receptor, contributing to its internalization in the absence of EGF stimulus. May also play a role in the formation of caveolae at the cell membrane. Recruits DNM2 to caveolae, and thereby plays a role in caveola-mediated endocytosis.

Gene Ontology (GO) - Molecular Function for PACSIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008092 cytoskeletal protein binding IEA --
GO:0008289 lipid binding IEA --
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with PACSIN2: view
genes like me logo Genes that share phenotypes with PACSIN2: view

Animal Models for PACSIN2 Gene

MGI Knock Outs for PACSIN2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PACSIN2 Gene

Localization for PACSIN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PACSIN2 Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Early endosome. Recycling endosome membrane. Cell projection, ruffle membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection. Membrane, caveola. Note=Detected at the neck of flask-shaped caveolae. Localization to tubular recycling endosomes probably requires interaction with MICALL1 and EHD1.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PACSIN2 Gene COMPARTMENTS Subcellular localization image for PACSIN2 gene
Compartment Confidence
endosome 5
extracellular 5
nucleus 5
plasma membrane 5
cytoskeleton 4
cytosol 4

Gene Ontology (GO) - Cellular Components for PACSIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005769 early endosome IEA --
GO:0005829 cytosol IEA --
GO:0005901 caveola IDA 21610094
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with PACSIN2: view

Pathways & Interactions for PACSIN2 Gene

SuperPathways for PACSIN2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PACSIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0036010 protein localization to endosome IMP 23596323
GO:0072584 caveolin-mediated endocytosis IMP 21610094
GO:0097320 membrane tubulation ISS --
genes like me logo Genes that share ontologies with PACSIN2: view

No data available for Pathways by source and SIGNOR curated interactions for PACSIN2 Gene

Drugs & Compounds for PACSIN2 Gene

No Compound Related Data Available

Transcripts for PACSIN2 Gene

Unigene Clusters for PACSIN2 Gene

Protein kinase C and casein kinase substrate in neurons 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PACSIN2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b
SP1: - - - -
SP2: - - - -
SP3: - - - - - - - -
SP4: - -
SP5: - - - -
SP6: - - - - -
SP7: - - -
SP8:
SP9: -
SP10:

Relevant External Links for PACSIN2 Gene

GeneLoc Exon Structure for
PACSIN2
ECgene alternative splicing isoforms for
PACSIN2

Expression for PACSIN2 Gene

mRNA expression in normal human tissues for PACSIN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PACSIN2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PACSIN2 Gene



SOURCE GeneReport for Unigene cluster for PACSIN2 Gene Hs.162877

mRNA Expression by UniProt/SwissProt for PACSIN2 Gene

Q9UNF0-PACN2_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with PACSIN2: view

Protein tissue co-expression partners for PACSIN2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PACSIN2 Gene

Orthologs for PACSIN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PACSIN2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PACSIN2 35
  • 88.96 (n)
  • 90.12 (a)
PACSIN2 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PACSIN2 35
  • 91.08 (n)
  • 94.03 (a)
PACSIN2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pacsin2 35
  • 89.03 (n)
  • 93.83 (a)
Pacsin2 16
Pacsin2 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PACSIN2 35
  • 99.38 (n)
  • 99.18 (a)
PACSIN2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pacsin2 35
  • 89.03 (n)
  • 93.62 (a)
oppossum
(Monodelphis domestica)
Mammalia PACSIN2 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PACSIN2 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves PACSIN2 35
  • 77 (n)
  • 88.43 (a)
PACSIN2 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PACSIN2 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pacsin2 35
  • 78.15 (n)
  • 82.35 (a)
African clawed frog
(Xenopus laevis)
Amphibia pacsin2 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
pacsin2 35
  • 70.08 (n)
  • 67.59 (a)
pacsin2 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008046 35
  • 52.25 (n)
  • 44.7 (a)
fruit fly
(Drosophila melanogaster)
Insecta Synd 35
  • 53.91 (n)
  • 45.61 (a)
Synd 36
  • 42 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F45E1.7 37
  • 31 (a)
sdpn-1 35
  • 44.26 (n)
  • 34.26 (a)
sdpn-1 36
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
ManyToMany
CSA.713 36
  • 46 (a)
ManyToMany
Species with no ortholog for PACSIN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 (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)
  • wheat (Triticum aestivum)

Evolution for PACSIN2 Gene

ENSEMBL:
Gene Tree for PACSIN2 (if available)
TreeFam:
Gene Tree for PACSIN2 (if available)

Paralogs for PACSIN2 Gene

Paralogs for PACSIN2 Gene

genes like me logo Genes that share paralogs with PACSIN2: view

Variants for PACSIN2 Gene

Sequence variations from dbSNP and Humsavar for PACSIN2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs2746984 - 42,882,208(+) ATGGC(A/C)ATGCC reference, missense
rs1062913 - 42,879,106(-) ACGGC(A/G/T)TCACC reference, missense
rs35383004 - 42,888,728(+) TGCTG(C/T)TGGCT reference, missense
rs2076157 -- 42,893,230(+) TAGTC(C/T)TGTGT intron-variant
rs2076158 -- 42,893,732(+) CCACA(C/T)CCCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PACSIN2 Gene

Variant ID Type Subtype PubMed ID
nsv915196 CNV Loss 21882294
nsv508738 CNV Insertion 20534489
esv2724290 CNV Deletion 23290073
esv2055252 CNV Deletion 18987734
nsv834212 CNV Gain+Loss 17160897
esv271060 CNV Insertion 20981092
esv33930 CNV Loss 17666407
nsv834213 CNV Loss 17160897
esv2724291 CNV Deletion 23290073
esv2724292 CNV Deletion 23290073
esv2724293 CNV Deletion 23290073

Variation tolerance for PACSIN2 Gene

Residual Variation Intolerance Score: 28.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.41; 54.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PACSIN2 Gene

HapMap Linkage Disequilibrium report
PACSIN2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PACSIN2 Gene

Disorders for PACSIN2 Gene

Relevant External Links for PACSIN2

Genetic Association Database (GAD)
PACSIN2
Human Genome Epidemiology (HuGE) Navigator
PACSIN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PACSIN2

No disorders were found for PACSIN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PACSIN2 Gene

Publications for PACSIN2 Gene

  1. PACSIN 2, a novel member of the PACSIN family of cytoplasmic adapter proteins. (PMID: 10431838) Ritter B. … Plomann M. (FEBS Lett. 1999) 2 3 4 23 67
  2. All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis. (PMID: 11082044) Modregger J. … Plomann M. (J. Cell Sci. 2000) 2 3 23
  3. PACSIN proteins bind tubulin and promote microtubule assembly. (PMID: 18456257) Grimm-GA1nter E.M. … Plomann M. (Exp. Cell Res. 2008) 3 23
  4. PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family. (PMID: 11179684) Sumoy L. … Escarceller M. (Gene 2001) 3 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for PACSIN2 Gene

Sources for PACSIN2 Gene

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