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

Gene ID: 11252, updated on 7-Apr-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
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Genomic context

See PACSIN2 in Genome Data Viewer
Location:
22q13.2
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42869766..43015149, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (43350692..43496154, complement)
105.20220307 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 ADP ribosylation factor 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)

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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_2023_10

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)