Human Gene PACSIN2 (ENST00000263246.8_7) from GENCODE V47lift37
  Description: protein kinase C and casein kinase substrate in neurons 2, transcript variant 5 (from RefSeq NM_001349969.2)
Gencode Transcript: ENST00000263246.8_7
Gencode Gene: ENSG00000100266.19_12
Transcript (Including UTRs)
   Position: hg19 chr22:43,265,779-43,411,155 Size: 145,377 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr22:43,267,363-43,308,086 Size: 40,724 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:43,265,779-43,411,155)mRNA (may differ from genome)Protein (486 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PACN2_HUMAN
DESCRIPTION: RecName: Full=Protein kinase C and casein kinase substrate in neurons protein 2;
FUNCTION: May play a role in vesicle formation and transport.
SUBUNIT: Homo- and hetero-aggregates with other PACSINs. Binds dynamin 1, synaptojanin, synapsin 1 and the neural Wiskott-Aldrich syndrome protein (N-WASP) (By similarity).
SUBCELLULAR LOCATION: Cytoplasmic vesicle (By similarity). Note=Vesicle-like cytoplasmic distribution (By similarity).
TISSUE SPECIFICITY: Ubiquitously expressed.
PTM: Phosphorylated by casein kinase 2 (CK2) and protein kinase C (PKC) (By similarity).
SIMILARITY: Belongs to the PACSIN family.
SIMILARITY: Contains 1 FCH domain.
SIMILARITY: Contains 1 SH3 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 53.74 RPKM in Artery - Tibial
Total median expression: 1237.62 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -80.00206-0.388 Picture PostScript Text
3' UTR -531.501584-0.336 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001060 - FCH
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF00611 - Fes/CIP4, and EFC/F-BAR homology domain
PF07653 - Variant SH3 domain
PF14604 - Variant SH3 domain

SCOP Domains:
109635 - DnaK suppressor protein DksA, alpha-hairpin domain
103657 - BAR/IMD domain-like
50044 - SH3-domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3ABH - X-ray MuPIT 3ACO - X-ray MuPIT 3HAJ - X-ray MuPIT 3Q0K - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UNF0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005215 transporter activity
GO:0005515 protein binding
GO:0008092 cytoskeletal protein binding
GO:0008289 lipid binding
GO:0042802 identical protein binding
GO:0045296 cadherin binding
GO:0070300 phosphatidic acid binding

Biological Process:
GO:0006897 endocytosis
GO:0030036 actin cytoskeleton organization
GO:0030100 regulation of endocytosis
GO:0036010 protein localization to endosome
GO:0045806 negative regulation of endocytosis
GO:0048858 cell projection morphogenesis
GO:0061024 membrane organization
GO:0070836 caveola assembly
GO:0072584 caveolin-mediated endocytosis
GO:0097320 plasma membrane tubulation

Cellular Component:
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005769 early endosome
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0005911 cell-cell junction
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0016607 nuclear speck
GO:0019898 extrinsic component of membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0032587 ruffle membrane
GO:0042995 cell projection
GO:0043231 intracellular membrane-bounded organelle
GO:0055038 recycling endosome membrane
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  AF128536 - Homo sapiens cytoplasmic phosphoprotein PACSIN2 mRNA, complete cds.
AY007086 - Homo sapiens clone TCCCIA00017 mRNA sequence.
AL389984 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 50687.
AL136845 - Homo sapiens mRNA; cDNA DKFZp434H1130 (from clone DKFZp434H1130).
JD040337 - Sequence 21361 from Patent EP1572962.
JD383044 - Sequence 364068 from Patent EP1572962.
JD136968 - Sequence 117992 from Patent EP1572962.
JD173155 - Sequence 154179 from Patent EP1572962.
JD496516 - Sequence 477540 from Patent EP1572962.
JD346851 - Sequence 327875 from Patent EP1572962.
JD312284 - Sequence 293308 from Patent EP1572962.
JD539073 - Sequence 520097 from Patent EP1572962.
JD129941 - Sequence 110965 from Patent EP1572962.
JD370737 - Sequence 351761 from Patent EP1572962.
JD180681 - Sequence 161705 from Patent EP1572962.
JD079990 - Sequence 61014 from Patent EP1572962.
JD191933 - Sequence 172957 from Patent EP1572962.
JD404073 - Sequence 385097 from Patent EP1572962.
JD338514 - Sequence 319538 from Patent EP1572962.
DL491941 - Novel nucleic acids.
JD395246 - Sequence 376270 from Patent EP1572962.
DL490500 - Novel nucleic acids.
JD066855 - Sequence 47879 from Patent EP1572962.
JD032242 - Sequence 13266 from Patent EP1572962.
JD027480 - Sequence 8504 from Patent EP1572962.
JD333564 - Sequence 314588 from Patent EP1572962.
JD052070 - Sequence 33094 from Patent EP1572962.
JD300966 - Sequence 281990 from Patent EP1572962.
JD314765 - Sequence 295789 from Patent EP1572962.
JD343926 - Sequence 324950 from Patent EP1572962.
JD189605 - Sequence 170629 from Patent EP1572962.
JD414294 - Sequence 395318 from Patent EP1572962.
BC008037 - Homo sapiens protein kinase C and casein kinase substrate in neurons 2, mRNA (cDNA clone MGC:1214 IMAGE:2967052), complete cds.
JD019631 - Sequence 655 from Patent EP1572962.
JD110980 - Sequence 92004 from Patent EP1572962.
JD029778 - Sequence 10802 from Patent EP1572962.
JD461149 - Sequence 442173 from Patent EP1572962.
CR533523 - Homo sapiens full open reading frame cDNA clone RZPDo834E0319D for gene PACSIN2, protein kinase C and casein kinase substrate in neurons 2; complete cds, incl. stopcodon.
JD072524 - Sequence 53548 from Patent EP1572962.
JD468036 - Sequence 449060 from Patent EP1572962.
JD332781 - Sequence 313805 from Patent EP1572962.
JD064449 - Sequence 45473 from Patent EP1572962.
CR456536 - Homo sapiens PACSIN2 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.PACSIN2.V3).
JD211374 - Sequence 192398 from Patent EP1572962.
CU013136 - Homo sapiens PACSIN2, mRNA (cDNA clone IMAGE:100000489), complete cds, with stop codon, in Gateway system.
KJ893264 - Synthetic construct Homo sapiens clone ccsbBroadEn_02658 PACSIN2 gene, encodes complete protein.
DQ892911 - Synthetic construct clone IMAGE:100005541; FLH190760.01X; RZPDo839D0976D protein kinase C and casein kinase substrate in neurons 2 (PACSIN2) gene, encodes complete protein.
AB587486 - Synthetic construct DNA, clone: pF1KB8651, Homo sapiens PACSIN2 gene for protein kinase C and casein kinase substrate in neurons 2, without stop codon, in Flexi system.
CU013424 - Homo sapiens PACSIN2, mRNA (cDNA clone IMAGE:100000393), complete cds, without stop codon, in Gateway system.
DQ896161 - Synthetic construct Homo sapiens clone IMAGE:100010621; FLH190756.01L; RZPDo839D0966D protein kinase C and casein kinase substrate in neurons 2 (PACSIN2) gene, encodes complete protein.
JD219807 - Sequence 200831 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UNF0 (Reactome details) participates in the following event(s):

R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000263246.1, ENST00000263246.2, ENST00000263246.3, ENST00000263246.4, ENST00000263246.5, ENST00000263246.6, ENST00000263246.7, NM_001349969, O95921, PACN2_HUMAN, Q96HV9, Q9H0D3, Q9NPN1, Q9UNF0, Q9Y4V2, uc317hhu.1, uc317hhu.2
UCSC ID: ENST00000263246.8_7
RefSeq Accession: NM_001184970.3
Protein: Q9UNF0 (aka PACN2_HUMAN or PAC2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.