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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
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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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