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    CAP2 cyclase associated actin cytoskeleton regulatory protein 2 [ Homo sapiens (human) ]

    Gene ID: 10486, updated on 12-Nov-2024

    Summary

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    Official Symbol
    CAP2provided by HGNC
    Official Full Name
    cyclase associated actin cytoskeleton regulatory protein 2provided by HGNC
    Primary source
    HGNC:HGNC:20039
    See related
    Ensembl:ENSG00000112186 MIM:618385; AllianceGenome:HGNC:20039
    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
    CMD2I
    Summary
    This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be able to interact with adenylyl cyclase-associated protein and actin. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in brain (RPKM 40.2), heart (RPKM 39.1) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CAP2 in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (17393595..17557780)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (17265693..17429911)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (17393826..17558011)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:17311541-17312740 Neighboring gene RNA binding motif protein 24 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:17341060-17342259 Neighboring gene ESD pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 1209 Neighboring gene uncharacterized LOC101928491 Neighboring gene ribosomal protein L7 pseudogene 26 Neighboring gene uncharacterized LOC102724591 Neighboring gene SUMO2 pseudogene 13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CAP2 contributes to Parkinson's disease diagnosed by neutrophil extracellular trap-related immune activity.
      Title: CAP2 contributes to Parkinson's disease diagnosed by neutrophil extracellular trap-related immune activity.
    2. An association study of cyclase-associated protein 2 and frailty.
      Title: An association study of cyclase-associated protein 2 and frailty.
    3. Analysis of mRNA and Protein Levels of CAP2, DLG1 and ADAM10 Genes in Post-Mortem Brain of Schizophrenia, Parkinson's and Alzheimer's Disease Patients.
      Title: Analysis of mRNA and Protein Levels of CAP2, DLG1 and ADAM10 Genes in Post-Mortem Brain of Schizophrenia, Parkinson's and Alzheimer's Disease Patients.
    4. Endoplasmic Reticulum Stress Induces CAP2 Expression Promoting Epithelial-Mesenchymal Transition in Liver Cancer Cells.
      Title: Endoplasmic Reticulum Stress Induces CAP2 Expression Promoting Epithelial-Mesenchymal Transition in Liver Cancer Cells.
    5. CAP2 is a Valuable Biomarker for Diagnosis and Prognostic in Patients with Gastric Cancer.
      Title: CAP2 is a Valuable Biomarker for Diagnosis and Prognostic in Patients with Gastric Cancer.
    6. CAP2 expression in ovarian cancer is an independent prognostic factor for recurrence-free survival.
      Title: Upregulation of cyclase-associated actin cytoskeleton regulatory protein 2 in epithelial ovarian cancer correlates with aggressive histologic types and worse outcomes.
    7. CAP2 joins other regulators of actin dynamics demonstrated to cause human genetic diseases. Our study is the first to demonstrate a mutation in CAP2 in human and a direct role for mutated CAP2 and perturbation of actin dynamics in the pathogenesis of DCM and possibly also conduction abnormalities in humans.
      Title: CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy.
    8. Study used lysine-to-glutamine mutations to map the relevant lysines on actin for INF2 regulation. K50Q- and K61Q-actin, when bound to CAP2, inhibit full-length INF2 but not INF2 lacking inhibitory domain (DID). CAP WH2 domain binds INF2-DID with submicromolar affinity but has weak affinity for actin monomers, while INF2-C-terminal diaphanous autoregulatory domain binds CAP/K50Q-actin 5-fold better than CAP/WT-actin.
      Title: Regulation of INF2-mediated actin polymerization through site-specific lysine acetylation of actin itself.
    9. CAP2 is highly expressed in gastric cancer tissues in close relation with the tumor progression. CAP2 is an independent risk factor for 5-year survival rate after radical gastrectomy for gastric cancer.
      Title: [Association of adenylate cyclase-associated protein 2 expression with histopathology and long-term prognosis of gastric cancer].
    10. CAP2 overexpression is a novel prognostic marker in malignant melanoma. CAP2 expression seems to increase stepwise during tumor progression, suggesting the involvement of CAP2 in the aggressive behavior of malignant melanoma.
      Title: Overexpression of adenylate cyclase-associated protein 2 is a novel prognostic marker in malignant melanoma.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Cardiomyopathy, dilated, 2I
    MedGen: C5830685 OMIM: 620462 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables adenylate cyclase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in activation of adenylate cyclase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cAMP-mediated signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment or maintenance of cell polarity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in presynaptic actin cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of modification of postsynaptic actin cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    adenylyl cyclase-associated protein 2
    Names
    2810452G09Rik
    CAP 2
    CAP, adenylate cyclase-associated protein, 2

    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_001363533.2 → NP_001350462.1  adenylyl cyclase-associated protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (3) has the same N-and C-termini but is shorter compared to variant 1.
      Source sequence(s)
      AL034372, AL138824
      Consensus CDS
      CCDS87368.1
      UniProtKB/TrEMBL
      B7Z385, Q5JPJ8
      Related
      ENSP00000417705.1, ENST00000489374.5
      Conserved Domains (2) summary
      pfam01213
      Location:7 → 185
      CAP_N; Adenylate cyclase associated (CAP) N terminal
      pfam08603
      Location:215 → 363
      CAP_C; Adenylate cyclase associated (CAP) C terminal

    2. NM_001363534.2 → NP_001350463.1  adenylyl cyclase-associated protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N-and C-termini but is shorter compared to variant 1.
      Source sequence(s)
      AL034372, AL138824
      Consensus CDS
      CCDS87369.1
      UniProtKB/TrEMBL
      B7Z4M3, E9PDI2
      Related
      ENSP00000368275.2, ENST00000378990.6
      Conserved Domains (2) summary
      pfam01213
      Location:7 → 271
      CAP_N; Adenylate cyclase associated (CAP) N terminal
      pfam08603
      Location:301 → 449
      CAP_C; Adenylate cyclase associated (CAP) C terminal

    3. NM_006366.3 → NP_006357.1  adenylyl cyclase-associated protein 2 isoform 1

      See identical proteins and their annotated locations for NP_006357.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AI928000, AL832154, BC008481, BF791244
      Consensus CDS
      CCDS4539.1
      UniProtKB/Swiss-Prot
      B2R5Y3, B7Z1C4, B7Z214, P40123, Q6IAY2
      UniProtKB/TrEMBL
      B7Z4M3
      Related
      ENSP00000229922.2, ENST00000229922.7
      Conserved Domains (2) summary
      pfam01213
      Location:7 → 297
      CAP_N; Adenylate cyclase associated (CAP) N terminal
      pfam08603
      Location:327 → 475
      CAP_C; Adenylate cyclase associated (CAP) C terminal

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      17393595..17557780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      17265693..17429911
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P40123.1 GenPept UniProtKB/Swiss-Prot:P40123

    Gene LinkOut

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