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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. Gene Ontology (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

Additional gene information for PACSIN2 Gene

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

Genomics for PACSIN2 Gene

GeneHancer (GH) Regulatory Elements for PACSIN2 Gene

Promoters and enhancers for PACSIN2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J043012 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 666 +1.1 1100 3.2 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 PACSIN2 POLDIP3 RPL5P34 ARFGAP3 NAGA MCAT PIR35633
GH22J042957 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 671.1 +55.1 55075 6.4 FOXA2 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B PACSIN2 ARFGAP3 LOC100506679 CYB5R3 ATP5MGL OGFRP1 GC22M042916 PIR35633
GH22J042972 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 30.8 +42.4 42427 1.5 ELF3 FOXA2 SAP130 ZFP64 CEBPG RAD21 YY1 GATAD2A RXRA FOXA3 PACSIN2 ARFGAP3 LOC100506679 PIR35633 GC22M042916
GH22J042928 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 16.5 +80.5 80541 12.6 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A IRF4 ZNF207 ZNF143 ARFGAP3 PACSIN2 NFAM1 OGFRP1 POLDIP3 GC22P042938 GC22M042916 GC22M043043
GH22J042891 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 21 +121.5 121524 4.9 MEIS2 PKNOX1 FOXA2 MAX BATF IRF4 RAD21 YY1 POLR2A NFATC1 GC22M043043 ARFGAP3 PACSIN2 NFAM1 OGFRP1 GC22P042880 GC22P042938
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PACSIN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PACSIN2 gene promoter:
  • STAT6
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B
  • Meis-1

Genomic Locations for PACSIN2 Gene

Genomic Locations for PACSIN2 Gene
chr22:42,835,412-43,015,690
(GRCh38/hg38)
Size:
180,279 bases
Orientation:
Minus strand
chr22:43,231,418-43,411,184
(GRCh37/hg19)
Size:
179,767 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 isoforms=2264
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PACSIN2 Gene

Domains & Families for PACSIN2 Gene

Gene Families for PACSIN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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.
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

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.
GENATLAS Biochemistry:
protein kinase C and casein kinase substrate in neurons 2

Phenotypes From GWAS Catalog for PACSIN2 Gene

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:0005543 phospholipid binding IBA --
GO:0008092 cytoskeletal protein binding IEA --
GO:0008289 lipid binding IEA --
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:
  • Pacsin2 Pacsin2<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Vesicles (3)
  • Cytosol (2)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PACSIN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 10431838
GO:0005768 endosome IEA,IBA --
GO:0005769 early endosome IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton 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:0007010 cytoskeleton organization IBA --
GO:0030036 actin cytoskeleton organization IEA,TAS --
GO:0030100 regulation of endocytosis IBA --
GO:0036010 protein localization to endosome IMP 23596323
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 1603
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:

CRISPR Products

Clone 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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for PACSIN2 Gene

  • Nervous system(4.8)
  • Skin(4.5)
  • Liver(4.3)
  • Eye(4.2)
  • Lung(2.3)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with PACSIN2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PACSIN2 34 33
  • 91.08 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pacsin2 16 34 33
  • 89.03 (n)
rat
(Rattus norvegicus)
Mammalia Pacsin2 33
  • 89.03 (n)
cow
(Bos Taurus)
Mammalia PACSIN2 34 33
  • 88.96 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PACSIN2 34
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PACSIN2 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PACSIN2 34 33
  • 77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PACSIN2 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pacsin2 33
  • 78.15 (n)
African clawed frog
(Xenopus laevis)
Amphibia pacsin2 33
zebrafish
(Danio rerio)
Actinopterygii pacsin2 34 33
  • 70.08 (n)
OneToOne
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Synd 34 33
  • 53.91 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008046 33
  • 52.25 (n)
worm
(Caenorhabditis elegans)
Secernentea sdpn-1 34 33
  • 44.26 (n)
OneToMany
F45E1.7 35
  • 31 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.713 34
  • 46 (a)
ManyToMany
-- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PACSIN2: view image

Paralogs for PACSIN2 Gene

Paralogs for PACSIN2 Gene

(23) SIMAP similar genes for PACSIN2 Gene using alignment to 7 proteins:

  • PACN2_HUMAN
  • B0QYG7_HUMAN
  • B0QYG8_HUMAN
  • B0QYG9_HUMAN
  • F8WC50_HUMAN
  • H0Y923_HUMAN
  • Q6FIA3_HUMAN
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 Variation AA Info Type
rs1000006525 -- 43,014,042(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000007919 -- 42,890,614(-) G/A intron_variant
rs1000022335 -- 42,992,368(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000035356 -- 42,992,052(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000092331 -- 42,949,217(-) C/T genic_upstream_transcript_variant, 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
esv33930 CNV loss 17666407
esv3412103 CNV insertion 20981092
esv3416390 CNV insertion 20981092
esv3647843 CNV loss 21293372
esv3647844 CNV gain 21293372
esv3647845 CNV gain 21293372
esv3647847 CNV gain 21293372
esv3893487 CNV gain 25118596
nsv1055906 CNV gain 25217958
nsv1065671 CNV gain 25217958
nsv1112374 CNV deletion 24896259
nsv1123598 CNV deletion 24896259
nsv1123599 CNV deletion 24896259
nsv1131662 CNV deletion 24896259
nsv472644 CNV novel sequence insertion 20440878
nsv508738 CNV insertion 20534489
nsv834212 CNV gain+loss 17160897
nsv834213 CNV loss 17160897

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)

Additional Variant Information for PACSIN2 Gene

Human Gene Mutation Database (HGMD)
PACSIN2
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

Additional Disease Information for PACSIN2

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

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 (Journal of cell science 2000) 2 3 4 22 58
  2. PACSIN 2, a novel member of the PACSIN family of cytoplasmic adapter proteins. (PMID: 10431838) Ritter B … Plomann M (FEBS letters 1999) 2 3 4 22 58
  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 58
  4. Cooperation of MICAL-L1, syndapin2, and phosphatidic acid in tubular recycling endosome biogenesis. (PMID: 23596323) Giridharan SS … Caplan S (Molecular biology of the cell 2013) 3 4 58
  5. The F-BAR protein PACSIN2 regulates epidermal growth factor receptor internalization. (PMID: 23129763) de Kreuk BJ … Hordijk PL (The Journal of biological chemistry 2012) 3 4 58

Products for PACSIN2 Gene

Sources for PACSIN2 Gene

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