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PACSIN2 protein kinase C and casein kinase substrate in neurons 2 [ Homo sapiens (human) ]

Gene ID: 11252, updated on 19-Jun-2019

Summary

Official Symbol
PACSIN2provided by HGNC
Official Full Name
protein kinase C and casein kinase substrate in neurons 2provided by HGNC
Primary source
HGNC:HGNC:8571
See related
Ensembl:ENSG00000100266 MIM:604960
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SDPII
Summary
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]
Expression
Ubiquitous expression in adrenal (RPKM 24.2), colon (RPKM 24.1) and 25 other tissues See more
Orthologs

Genomic context

See PACSIN2 in Genome Data Viewer
Location:
22q13.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (42869766..43015176, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43265772..43411184, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 7 pseudogene Neighboring gene ADP ribosylation factor GTPase activating protein 3 Neighboring gene cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae) pseudogene Neighboring gene uncharacterized LOC101927393 Neighboring gene uncharacterized LOC107985550 Neighboring gene Sharpr-MPRA regulatory region 5708 Neighboring gene Sharpr-MPRA regulatory region 1755 Neighboring gene uncharacterized LOC100506679 Neighboring gene tubulin tyrosine ligase like 1 Neighboring gene ribosomal protein S25 pseudogene 10

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA PubMed 
cytoskeletal protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
phosphatidic acid binding IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
caveola assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
caveolin-mediated endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell projection morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane organization TAS
Traceable Author Statement
more info
 
modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endocytosis IEA
Inferred from Electronic Annotation
more info
 
plasma membrane tubulation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane tubulation IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane tubulation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization to endosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
caveola IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
early endosome IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extrinsic component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
focal adhesion HDA PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
recycling endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
ruffle membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein kinase C and casein kinase substrate in neurons protein 2
Names
cytoplasmic phosphoprotein PACSIN2
syndapin-2
syndapin-II
syndapin2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001184970.3NP_001171899.1  protein kinase C and casein kinase substrate in neurons protein 2 isoform A

    See identical proteins and their annotated locations for NP_001171899.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform A. Both variants 1 and 2 encode the same protein (isoform A).
    Source sequence(s)
    AF128536, BC008037, HY009996
    Consensus CDS
    CCDS43023.1
    UniProtKB/Swiss-Prot
    Q9UNF0
    Related
    ENSP00000263246.3, ENST00000263246.8
    Conserved Domains (3) summary
    cd07679
    Location:18275
    F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)
    cd11998
    Location:429484
    SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
    pfam16601
    Location:341428
    NPF; Rabosyn-5 repeating NPF sequence-motif
  2. NM_001184971.1NP_001171900.1  protein kinase C and casein kinase substrate in neurons protein 2 isoform B

    See identical proteins and their annotated locations for NP_001171900.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame exon in the coding region, compared to variant 1. The resulting protein (isoform B) lacks 41 internal amino acids, compared to isoform A.
    Source sequence(s)
    AL136845, BI964045
    Consensus CDS
    CCDS54536.1
    UniProtKB/Swiss-Prot
    Q9UNF0
    UniProtKB/TrEMBL
    Q6FIA3
    Related
    ENSP00000385952.1, ENST00000407585.5
    Conserved Domains (2) summary
    cd07679
    Location:18275
    F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)
    cd11998
    Location:388443
    SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
  3. NM_001349968.1NP_001336897.1  protein kinase C and casein kinase substrate in neurons protein 2 isoform C

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, contains an alternate in-frame exon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform C) has the same N- and C-termini, but is shorter than isoform A. Variants 4, 7, 8 and 9 encode the same protein (isoform C).
    Source sequence(s)
    AF128536, AL022476, BC008037, BI964045, DB477051, HY342978
    Conserved Domains (2) summary
    cd07679
    Location:18275
    F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)
    cd11998
    Location:390445
    SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
  4. NM_001349969.1NP_001336898.1  protein kinase C and casein kinase substrate in neurons protein 2 isoform D

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform D) has the same N- and C-termini, but is 2 aa longer than isoform A. Both variants 5 and 6 encode the same protein (isoform D).
    Source sequence(s)
    AF128536, BC008037, BI964045, CN409689, HY009996, HY049956
    Conserved Domains (3) summary
    cd07679
    Location:18275
    F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)
    cd11998
    Location:431486
    SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
    pfam16601
    Location:343430
    NPF; Rabosyn-5 repeating NPF sequence-motif
  5. NM_001349970.1NP_001336899.1  protein kinase C and casein kinase substrate in neurons protein 2 isoform D

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform D) has the same N- and C-termini, but is 2 aa longer than isoform A. Both variants 5 and 6 encode the same protein (isoform D).
    Source sequence(s)
    AF128536, BC008037, BI964045, CN409689, DB454234, HY009996
    Conserved Domains (3) summary
    cd07679
    Location:18275
    F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)
    cd11998
    Location:431486
    SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
    pfam16601
    Location:343430
    NPF; Rabosyn-5 repeating NPF sequence-motif
  6. NM_001349971.1NP_001336900.1  protein kinase C and casein kinase substrate in neurons protein 2 isoform C

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an alternate in-frame exon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform C) has the same N- and C-termini, but is shorter than isoform A. Variants 4, 7, 8 and 9 encode the same protein (isoform C).
    Source sequence(s)
    AF128536, BC008037, BI964045, HY009996, HY049956, HY342978
    Conserved Domains (2) summary
    cd07679
    Location:18275
    F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)
    cd11998
    Location:390445
    SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
  7. NM_001349972.1NP_001336901.1  protein kinase C and casein kinase substrate in neurons protein 2 isoform C

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, contains an alternate in-frame exon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform C) has the same N- and C-termini, but is shorter than isoform A. Variants 4, 7, 8 and 9 encode the same protein (isoform C).
    Source sequence(s)
    AF128536, AL136845, BC008037, BI964045, DB477051, HY342978
    Conserved Domains (2) summary
    cd07679
    Location:18275
    F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)
    cd11998
    Location:390445
    SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
  8. NM_001349973.1NP_001336902.1  protein kinase C and casein kinase substrate in neurons protein 2 isoform C

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR, contains an alternate in-frame exon and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting protein (isoform C) has the same N- and C-termini, but is shorter than isoform A. Variants 4, 7, 8 and 9 encode the same protein (isoform C).
    Source sequence(s)
    AF128536, BC008037, BG683098, BI964045, HY342978
    Conserved Domains (2) summary
    cd07679
    Location:18275
    F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)
    cd11998
    Location:390445
    SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
  9. NM_001349974.1NP_001336903.1  protein kinase C and casein kinase substrate in neurons protein 2 isoform E

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting protein (isoform E) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AF128536, BC008037, BI911403, BI964045, HY009996, HY049956, HY342978
    Conserved Domains (2) summary
    cd11998
    Location:349404
    SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
    cl12013
    Location:1234
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  10. NM_007229.3NP_009160.2  protein kinase C and casein kinase substrate in neurons protein 2 isoform A

    See identical proteins and their annotated locations for NP_009160.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (A).
    Source sequence(s)
    AF128536, BC008037, BI964045
    Consensus CDS
    CCDS43023.1
    UniProtKB/Swiss-Prot
    Q9UNF0
    Related
    ENSP00000385372.3, ENST00000403744.7
    Conserved Domains (3) summary
    cd07679
    Location:18275
    F-BAR_PACSIN2; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Protein kinase C and Casein kinase Substrate in Neurons 2 (PACSIN2)
    cd11998
    Location:429484
    SH3_PACSIN1-2; Src homology 3 domain of Protein kinase C and Casein kinase Substrate in Neurons 1 (PACSIN1) and PACSIN 2
    pfam16601
    Location:341428
    NPF; Rabosyn-5 repeating NPF sequence-motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    42869766..43015176 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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