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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 3 4
  • Syndapin-2 3 4
  • Protein Kinase C And Casein Kinase Substrate In Neurons Protein 2 3
  • Cytoplasmic Phosphoprotein PACSIN2 3
  • Syndapin II 2
  • 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. Among its related pathways are Vesicle-mediated transport and Clathrin-mediated endocytosis. 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 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
GH22F042972 1.2 FANTOM5 Ensembl ENCODE 39 +41.8 41827 2.7 GATAD2A ELF3 SAP130 HLF FOXA3 ZFP64 CEBPG RAD21 ZNF121 CEBPA PACSIN2 ARFGAP3 LOC100506679 PIR35633 GC22M042914
GH22F042891 1.5 FANTOM5 Ensembl ENCODE 21 +121.1 121125 5.7 PKNOX1 ATF1 FEZF1 RAD21 ZBTB40 YY1 ZNF335 GLIS2 SCRT2 ETV6 ARFGAP3 PACSIN2 RPS25P10 NFAM1 OGFRP1 GC22M042889 GC22P042938
GH22F042928 1.8 FANTOM5 Ensembl ENCODE 16.5 +80.8 80772 13.0 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A YBX1 ZNF143 ZNF207 FOS ARFGAP3 PACSIN2 OGFRP1 RPL5P34 NFAM1 ENSG00000273366 ENSG00000233903 NAGA FAM109B POLDIP3
GH22F042945 1.2 Ensembl ENCODE 19.5 +68.1 68108 4.4 ELF3 PKNOX1 INSM2 ARID4B RAD21 DNMT3B RARA ZNF121 GLIS2 ZNF366 ARFGAP3 PACSIN2 LOC100506679 OGFRP1 GC22M042914 PIR35633
GH22F042989 1.4 FANTOM5 ENCODE 16.7 +22.2 22154 7.6 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF416 ZNF207 RN7SKP80 RPL5P34 RRP7BP PACSIN2 ARFGAP3 NAGA FAM109B A4GALT NDUFA6 PIR35633
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00001533044 790 2201 HDGF PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

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

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

No data available for DME Specific Peptides for PACSIN2 Gene

Domains & Families for PACSIN2 Gene

Gene 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

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:0005215 transporter activity TAS 10431838
GO:0005515 protein binding IPI 16189514
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

Inhibitory RNA 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
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 PACSIN2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
endosome 5
cytoskeleton 4

Gene Ontology (GO) - Cellular Components for PACSIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,TAS --
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with PACSIN2: view

Pathways & Interactions for PACSIN2 Gene

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

Pathways by source for PACSIN2 Gene

Gene Ontology (GO) - Biological Process for PACSIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0030036 actin cytoskeleton organization IEA,TAS --
GO:0030100 regulation of endocytosis IBA --
GO:0036010 protein localization to endosome IMP 23596323
GO:0045806 negative regulation of endocytosis IEA --
genes like me logo Genes that share ontologies with PACSIN2: view

No data available for SIGNOR curated interactions for PACSIN2 Gene

Drugs & Compounds for PACSIN2 Gene

(2) Drugs for PACSIN2 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mercaptopurine Approved Pharma 0
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1518
genes like me logo Genes that share compounds with PACSIN2: view

Transcripts for PACSIN2 Gene

Unigene Clusters for PACSIN2 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for PACSIN2 Gene



Protein tissue co-expression partners for PACSIN2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PACSIN2 Gene:

PACSIN2

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia PACSIN2 34 35
  • 99.38 (n)
dog
(Canis familiaris)
Mammalia PACSIN2 34 35
  • 91.08 (n)
mouse
(Mus musculus)
Mammalia Pacsin2 34 16 35
  • 89.03 (n)
rat
(Rattus norvegicus)
Mammalia Pacsin2 34
  • 89.03 (n)
cow
(Bos Taurus)
Mammalia PACSIN2 34 35
  • 88.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PACSIN2 35
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PACSIN2 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PACSIN2 34 35
  • 77 (n)
lizard
(Anolis carolinensis)
Reptilia PACSIN2 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pacsin2 34
  • 78.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia pacsin2 34
zebrafish
(Danio rerio)
Actinopterygii pacsin2 34 35
  • 70.08 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta Synd 34 35
  • 53.91 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008046 34
  • 52.25 (n)
worm
(Caenorhabditis elegans)
Secernentea sdpn-1 34 35
  • 44.26 (n)
F45E1.7 36
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.713 35
  • 46 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
Species where no ortholog for PACSIN2 was found in the sources mined by GeneCards:
  • 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
rs10212042 -- 43,008,237(+) GTGAG(C/G)CTCTA intron-variant
rs10212047 -- 43,008,343(+) cctcc(G/T)gggtt intron-variant
rs10222268 -- 43,004,614(+) CTCGG(G/T)TGGCG intron-variant
rs1040427 -- 42,977,564(+) TACAA(A/C)ATCTA intron-variant
rs1040428 -- 42,985,193(+) agtgg(C/T)ggcac intron-variant

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

Variant ID Type Subtype PubMed ID
esv2055252 CNV deletion 18987734
esv2724290 CNV deletion 23290073
esv2724291 CNV deletion 23290073
esv2724292 CNV deletion 23290073
esv2724293 CNV deletion 23290073
esv3306784 CNV mobile element insertion 20981092
nsv834213 CNV loss 17160897
nsv834212 CNV gain+loss 17160897
nsv508738 CNV insertion 20534489
nsv472644 CNV novel sequence insertion 20440878
nsv1131662 CNV deletion 24896259
nsv1123599 CNV deletion 24896259
nsv1123598 CNV deletion 24896259
nsv1112374 CNV deletion 24896259
nsv1065671 CNV gain 25217958
nsv1055906 CNV gain 25217958
esv3893487 CNV gain 25118596
esv3647847 CNV gain 21293372
esv3647845 CNV gain 21293372
esv3647844 CNV gain 21293372
esv3647843 CNV loss 21293372
esv3416390 CNV insertion 20981092
esv3412103 CNV insertion 20981092
esv33930 CNV loss 17666407

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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. All three PACSIN isoforms bind to endocytic proteins and inhibit endocytosis. (PMID: 11082044) Modregger J. … Plomann M. (J. Cell Sci. 2000) 2 3 4 22 64
  2. 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 22 64
  3. 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 4 22 64
  4. Cooperation of MICAL-L1, syndapin2, and phosphatidic acid in tubular recycling endosome biogenesis. (PMID: 23596323) Giridharan S.S. … Caplan S. (Mol. Biol. Cell 2013) 3 4 64
  5. The F-BAR protein PACSIN2 regulates epidermal growth factor receptor internalization. (PMID: 23129763) de Kreuk B.J. … Hordijk P.L. (J. Biol. Chem. 2012) 3 4 64

Products for PACSIN2 Gene

Sources for PACSIN2 Gene

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