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    ACAP2 ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 [ Homo sapiens (human) ]

    Gene ID: 23527, updated on 7-Apr-2024

    Summary

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    Official Symbol
    ACAP2provided by HGNC
    Official Full Name
    ArfGAP with coiled-coil, ankyrin repeat and PH domains 2provided by HGNC
    Primary source
    HGNC:HGNC:16469
    See related
    Ensembl:ENSG00000114331 MIM:607766; AllianceGenome:HGNC:16469
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CENTB2; CNT-B2
    Summary
    Enables GTPase activator activity. Acts upstream of or within actin filament-based process. Located in ruffle. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.3), lymph node (RPKM 12.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    3q29
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (195274745..195443020, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (197972626..198140907, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (194995474..195163749, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene xyloside xylosyltransferase 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194947105-194947699 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:194960771-194961333 Neighboring gene RNA, U6 small nuclear 25, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:194974283-194975070 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:194976828-194977002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15032 Neighboring gene uncharacterized LOC124909475 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:194991127-194991918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15035 Neighboring gene ribosomal protein L31 pseudogene 22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21054 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195154512-195155012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15036 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:195163293-195163792 Neighboring gene uncharacterized LOC124906341 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:195190192-195191391 Neighboring gene MPRA-validated peak4984 silencer Neighboring gene RNA, U6atac small nuclear 24, pseudogene Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 2

    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
    • 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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    Related articles in PubMed

    1. Circ-ACAP2 facilitates the progression of colorectal cancer through mediating miR-143-3p/FZD4 axis. Zhang G, et al. Eur J Clin Invest, 2021 Dec. PMID 34085707
    2. CircACAP2 promotes breast cancer proliferation and metastasis by targeting miR-29a/b-3p-COL5A1 axis. Zhao B, et al. Life Sci, 2020 Mar 1. PMID 31863774
    3. Rab35/ACAP2 and Rab35/RUSC2 Complex Structures Reveal Molecular Basis for Effector Recognition by Rab35 GTPase. Lin L, et al. Structure, 2019 May 7. PMID 30905672
    4. The CircRNA-ACAP2/Hsa-miR-21-5p/ Tiam1 Regulatory Feedback Circuit Affects the Proliferation, Migration, and Invasion of Colon Cancer SW480 Cells. He JH, et al. Cell Physiol Biochem, 2018. PMID 30212824
    5. Rab35 protein regulates evoked exocytosis of endothelial Weibel-Palade bodies. Biesemann A, et al. J Biol Chem, 2017 Jul 14. PMID 28566286, Free PMC Article

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circ-ACAP2 facilitates the progression of colorectal cancer through mediating miR-143-3p/FZD4 axis.
      Title: Circ-ACAP2 facilitates the progression of colorectal cancer through mediating miR-143-3p/FZD4 axis.
    2. analysis of structural basis for effector recognition in Rab35/ACAP2 and Rab35/RUSC2 complexes
      Title: Rab35/ACAP2 and Rab35/RUSC2 Complex Structures Reveal Molecular Basis for Effector Recognition by Rab35 GTPase.
    3. Elevated expression of circACAP2 in breast cancer tissues leads to malignant phenotype upon cancerous cells. CircACAP2-miR-29a/b-3p-COL5A1 axis leads to breast cancer tumorigenesis
      Title: CircACAP2 promotes breast cancer proliferation and metastasis by targeting miR-29a/b-3p-COL5A1 axis.
    4. The down-regulation of circRNA-ACAP2 promoted miR-21-5p expression, which further suppressed the transcription and translation of Tiam1.
      Title: The CircRNA-ACAP2/Hsa-miR-21-5p/ Tiam1 Regulatory Feedback Circuit Affects the Proliferation, Migration, and Invasion of Colon Cancer SW480 Cells.
    5. Data suggest that Rab35, interacting with TBC1D10A, functions in vascular endothelial cells as a negative regulator of histamine-evoked, Ca2+-dependent Weibel-Palade body exocytosis, most likely acting through the downstream effectors ACAP2 and Arf6. (Rab35 = rab GTP-binding protein 53; TBC1D10A = TBC1 domain family member 10A; ACAP2 = centaurin beta2; Arf6 = ADP-ribosylation factor 6)
      Title: Rab35 protein regulates evoked exocytosis of endothelial Weibel-Palade bodies.
    6. ACAP2 is a functional homolog of C. elegans CNT-1 and its inactivation or downregulation in human cells may contribute to cancer development
      Title: Human ACAP2 is a homolog of C. elegans CNT-1 that promotes apoptosis in cancer cells.
    7. ACAP2 has robust, constitutive Arf6 GAP activity in vivo, with little activity toward Arf1.
      Title: Substrate specificities and activities of AZAP family Arf GAPs in vivo.
    8. Centaurin beta2/KIAA0041, is a member of the centaurin family of ADP-ribosylation factor directed GTPase-activating proteins. Binding of phosphoinositides to a pleckstrin homology domain may regulate subcellular localisation and activity.
      Title: Cytohesins and centaurins: mediators of PI 3-kinase-regulated Arf signaling.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Clone Names

    • KIAA0041

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within actin filament-based process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cellular response to nerve growth factor stimulus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in endocytic recycling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endosome membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in membrane HDA PubMed 
    located_in ruffle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2
    Names
    Arf GAP with coiled coil, ANK repeat and PH domains 2
    centaurin-beta-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_012287.6 → NP_036419.3  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2

      See identical proteins and their annotated locations for NP_036419.3

      Status: VALIDATED

      Source sequence(s)
      AC090018, BC017120, CA413842, D26069, DB087306
      Consensus CDS
      CCDS33924.1
      UniProtKB/Swiss-Prot
      A8K2V4, Q15057, Q8N5Z8, Q9UQR3
      Related
      ENSP00000324287.6, ENST00000326793.11
      Conserved Domains (5) summary
      PTZ00322
      Location:642 → 726
      PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
      cd07638
      Location:18 → 217
      BAR_ACAP2; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with Coiled-coil, ANK repeat and PH domain containing protein 2
      cd13250
      Location:269 → 365
      PH_ACAP; ArfGAP with coiled-coil, ankyrin repeat and PH domains Pleckstrin homology (PH) domain
      sd00045
      Location:638 → 671
      ANK; ANK repeat [structural motif]
      cd08851
      Location:399 → 513
      ArfGap_ACAP2; ArfGAP domain of ACAP2 (ArfGAP with Coiled-coil, ANK repeat and PH domains 2)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      195274745..195443020 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011512603.3 → XP_011510905.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X5

      See identical proteins and their annotated locations for XP_011510905.1

      Conserved Domains (6) summary
      PTZ00322
      Location:677 → 761
      PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
      cd07638
      Location:18 → 217
      BAR_ACAP2; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with Coiled-coil, ANK repeat and PH domain containing protein 2
      COG5347
      Location:387 → 631
      COG5347; GTPase-activating protein that regulates ARFs (ADP-ribosylation factors), involved in ARF-mediated vesicular transport [Intracellular trafficking and secretion]
      cd13250
      Location:269 → 365
      PH_ACAP; ArfGAP with coiled-coil, ankyrin repeat and PH domains Pleckstrin homology (PH) domain
      sd00045
      Location:673 → 706
      ANK; ANK repeat [structural motif]
      cd08851
      Location:399 → 513
      ArfGap_ACAP2; ArfGAP domain of ACAP2 (ArfGAP with Coiled-coil, ANK repeat and PH domains 2)

    2. XM_006713557.4 → XP_006713620.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X9

      See identical proteins and their annotated locations for XP_006713620.1

      Conserved Domains (5) summary
      PTZ00322
      Location:649 → 733
      PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
      cd07638
      Location:18 → 217
      BAR_ACAP2; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with Coiled-coil, ANK repeat and PH domain containing protein 2
      cd13250
      Location:269 → 372
      PH_ACAP; ArfGAP with coiled-coil, ankyrin repeat and PH domains Pleckstrin homology (PH) domain
      sd00045
      Location:645 → 678
      ANK; ANK repeat [structural motif]
      cd08851
      Location:406 → 520
      ArfGap_ACAP2; ArfGAP domain of ACAP2 (ArfGAP with Coiled-coil, ANK repeat and PH domains 2)

    3. XM_011512602.3 → XP_011510904.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X4

      See identical proteins and their annotated locations for XP_011510904.1

      Conserved Domains (6) summary
      PTZ00322
      Location:684 → 768
      PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
      cd07638
      Location:18 → 217
      BAR_ACAP2; The Bin/Amphiphysin/Rvs (BAR) domain of ArfGAP with Coiled-coil, ANK repeat and PH domain containing protein 2
      COG5347
      Location:394 → 638
      COG5347; GTPase-activating protein that regulates ARFs (ADP-ribosylation factors), involved in ARF-mediated vesicular transport [Intracellular trafficking and secretion]
      cd13250
      Location:269 → 372
      PH_ACAP; ArfGAP with coiled-coil, ankyrin repeat and PH domains Pleckstrin homology (PH) domain
      sd00045
      Location:680 → 713
      ANK; ANK repeat [structural motif]
      cd08851
      Location:406 → 520
      ArfGap_ACAP2; ArfGAP domain of ACAP2 (ArfGAP with Coiled-coil, ANK repeat and PH domains 2)

    4. XM_017006049.2 → XP_016861538.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X7

      Conserved Domains (5) summary
      PTZ00322
      Location:670 → 754
      PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
      cd13250
      Location:297 → 393
      PH_ACAP; ArfGAP with coiled-coil, ankyrin repeat and PH domains Pleckstrin homology (PH) domain
      sd00045
      Location:666 → 699
      ANK; ANK repeat [structural motif]
      cd08851
      Location:427 → 541
      ArfGap_ACAP2; ArfGAP domain of ACAP2 (ArfGAP with Coiled-coil, ANK repeat and PH domains 2)
      cl12013
      Location:18 → 245
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    5. XM_017006047.2 → XP_016861536.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X3

      Conserved Domains (6) summary
      PTZ00322
      Location:705 → 789
      PTZ00322; 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase; Provisional
      COG5347
      Location:415 → 659
      COG5347; GTPase-activating protein that regulates ARFs (ADP-ribosylation factors), involved in ARF-mediated vesicular transport [Intracellular trafficking and secretion]
      cd13250
      Location:297 → 393
      PH_ACAP; ArfGAP with coiled-coil, ankyrin repeat and PH domains Pleckstrin homology (PH) domain
      sd00045
      Location:701 → 734
      ANK; ANK repeat [structural motif]
      cd08851
      Location:427 → 541
      ArfGap_ACAP2; ArfGAP domain of ACAP2 (ArfGAP with Coiled-coil, ANK repeat and PH domains 2)
      cl12013
      Location:18 → 245
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    6. XM_017006048.2 → XP_016861537.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X6

    7. XM_017006046.2 → XP_016861535.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X1

    8. XM_047447835.1 → XP_047303791.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X8

    9. XM_047447837.1 → XP_047303793.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X8

    10. XM_047447836.1 → XP_047303792.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X10

    11. XM_047447838.1 → XP_047303794.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X11

      Related
      ENSP00000412338.2, ENST00000450200.2

    12. XM_047447834.1 → XP_047303790.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      197972626..198140907 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054345914.1 → XP_054201889.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X5

    2. XM_054345918.1 → XP_054201893.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X9

    3. XM_054345913.1 → XP_054201888.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X4

    4. XM_054345916.1 → XP_054201891.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X7

    5. XM_054345912.1 → XP_054201887.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X3

    6. XM_054345915.1 → XP_054201890.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X6

    7. XM_054345910.1 → XP_054201885.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X1

    8. XM_054345917.1 → XP_054201892.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X8

    9. XM_054345920.1 → XP_054201895.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X8

    10. XM_054345919.1 → XP_054201894.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X10

    11. XM_054345921.1 → XP_054201896.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X11

    12. XM_054345911.1 → XP_054201886.1  arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15057.3 GenPept UniProtKB/Swiss-Prot:Q15057

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