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

    Gene ID: 11252, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:8571
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PACSIN2 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42869766..43015149, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (43350692..43496154, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43265772..43411155, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9313 Neighboring gene ADAMTS7 pseudogene 5 Neighboring gene ARF GTPase activating protein 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:43252438-43253282 Neighboring gene uncharacterized LOC101927393 Neighboring gene COA1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43277300-43277874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43277875-43278449 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43278450-43279023 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43293568-43294344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43294345-43295119 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43300517-43301037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43301932-43302607 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43311964-43312742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43321567-43322365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43330023-43330539 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43330540-43331055 Neighboring gene uncharacterized LOC124905128 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:43335396-43335896 Neighboring gene Sharpr-MPRA regulatory region 5708 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:43337917-43338143 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13846 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43342673-43343565 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43343566-43344457 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43348125-43348626 Neighboring gene Sharpr-MPRA regulatory region 1755 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43359945-43360726 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43360727-43361506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43366379-43367366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43381349-43381866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43381867-43382385 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:43389036-43389156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19181 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:43410757-43411460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43423546-43424046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43430053-43430554 Neighboring gene TTLL1 antisense RNA 1 Neighboring gene TTL family tubulin polyglutamylase complex subunit L1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43474531-43475053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43475054-43475575 Neighboring gene Sharpr-MPRA regulatory region 1995 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13852 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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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
      O95921, Q96HV9, Q9H0D3, Q9NPN1, Q9UNF0, Q9Y4V2
      UniProtKB/TrEMBL
      A0A0U1RR22
      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:338428
      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/TrEMBL
      A0A0U1RR22, 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
      UniProtKB/TrEMBL
      A0A0U1RR22
      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_001349969.2NP_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, CN409689, HY009996
      UniProtKB/TrEMBL
      A0A0U1RR22
      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_001349970.2NP_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, CN409689, DB454234, HY009996
      UniProtKB/TrEMBL
      A0A0U1RR22
      Related
      ENSP00000489297.1, ENST00000634914.1
      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_001349971.2NP_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, HY009996, HY342978
      UniProtKB/TrEMBL
      A0A0U1RR22
      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
      UniProtKB/TrEMBL
      A0A0U1RR22
      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
      UniProtKB/TrEMBL
      A0A0U1RR22
      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_001349974.2NP_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, HY049956, HY342978
      UniProtKB/TrEMBL
      A0A0U1RR22
      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
      O95921, Q96HV9, Q9H0D3, Q9NPN1, Q9UNF0, Q9Y4V2
      UniProtKB/TrEMBL
      A0A0U1RR22
      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:338428
      NPF; Rabosyn-5 repeating NPF sequence-motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      42869766..43015149 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      43350692..43496154 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)