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    ADAP2 ArfGAP with dual PH domains 2 [ Homo sapiens (human) ]

    Gene ID: 55803, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ADAP2provided by HGNC
    Official Full Name
    ArfGAP with dual PH domains 2provided by HGNC
    Primary source
    HGNC:HGNC:16487
    See related
    Ensembl:ENSG00000184060 MIM:608635; AllianceGenome:HGNC:16487
    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
    CENTA2; cent-b; HSA272195
    Summary
    The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016]
    Expression
    Broad expression in spleen (RPKM 10.3), placenta (RPKM 9.9) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ADAP2 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (30921945..30959322)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (31867653..31905026)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (29248963..29286340)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATPase family AAA domain containing 5 Neighboring gene RNA, U6 small nuclear 298, pseudogene Neighboring gene MPRA-validated peak2795 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:29233994-29234794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29239185-29239684 Neighboring gene transcription elongation factor, mitochondrial Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8404 Neighboring gene MPRA-validated peak2796 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12003 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:29284865-29285364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8405 Neighboring gene RNA, 7SL, cytoplasmic 138, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12005 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:29297471-29298032 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:29298033-29298594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12007 Neighboring gene ring finger protein 135 Neighboring gene divergent-paired related homeobox pseudogene 4

    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. Elevated Expression of ADAP2 is Associated With Aggressive Behavior of Human Clear-Cell Renal Cell Carcinoma and Poor Patient Survival. Qiang Y, et al. Clin Genitourin Cancer, 2023 Apr. PMID 36127253
    2. Centaurin-α₂ interacts with β-tubulin and stabilizes microtubules. Zuccotti P, et al. PLoS One, 2012. PMID 23285209, Free PMC Article
    3. ArfGAP Domain-Containing Protein 2 (ADAP2) Integrates Upstream and Downstream Modules of RIG-I Signaling and Facilitates Type I Interferon Production. Bist P, et al. Mol Cell Biol, 2017 Mar 15. PMID 27956705, Free PMC Article
    4. ADAP2 Is an Interferon Stimulated Gene That Restricts RNA Virus Entry. Shu Q, et al. PLoS Pathog, 2015 Sep. PMID 26372645, Free PMC Article
    5. Identification of gene structure and subcellular localization of human centaurin alpha 2, and p42IP4, a family of two highly homologous, Ins 1,3,4,5-P4-/PtdIns 3,4,5-P3-binding, adapter proteins. Hanck T, et al. J Neurochem, 2004 Jan. PMID 14690521

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Elevated Expression of ADAP2 is Associated With Aggressive Behavior of Human Clear-Cell Renal Cell Carcinoma and Poor Patient Survival.
      Title: Elevated Expression of ADAP2 is Associated With Aggressive Behavior of Human Clear-Cell Renal Cell Carcinoma and Poor Patient Survival.
    2. ArfGAP domain-containing protein 2 (ADAP2) is identified as a key novel scaffolding protein that integrates different modules of the RIG-I pathway, located at distinct subcellular locations, and mediates cellular antiviral type I interferon production.
      Title: ArfGAP Domain-Containing Protein 2 (ADAP2) Integrates Upstream and Downstream Modules of RIG-I Signaling and Facilitates Type I Interferon Production.
    3. Data suggest ADAP2 (an interferon-beta stimulated gene) disrupts pathogenic internalization of some RNA viruses/virions (dengue, vesicular stomatitis) by altering ADP ribosylation factor 6-mediated processes including up-regulation of pinocytosis.
      Title: ADAP2 Is an Interferon Stimulated Gene That Restricts RNA Virus Entry.
    4. Centaurin-alpha interacts with beta-tubulin and stabilizes microtubules.
      Title: Centaurin-α₂ interacts with β-tubulin and stabilizes microtubules.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
    7. The human gene for centaurin alpha 2 is located on chromosome 17, position 17q11.2, near the neurofibromatosis 1 (NF1) locus and concentrated at the plasma membrane.
      Title: Identification of gene structure and subcellular localization of human centaurin alpha 2, and p42IP4, a family of two highly homologous, Ins 1,3,4,5-P4-/PtdIns 3,4,5-P3-binding, adapter proteins.
    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

    EBI GWAS Catalog

    Description
    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)

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inositol 1,3,4,5 tetrakisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3,4,5-trisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-3,4,5-trisphosphate binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol-3,4-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables phosphatidylinositol-4,5-bisphosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-macromolecule adaptor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heart development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in regulation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial envelope ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    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
    		 PubMed 

    General protein information

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    Preferred Names
    arf-GAP with dual PH domain-containing protein 2
    Names
    centaurin beta
    centaurin-alpha 2 protein

    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.

    Genomic

    1. NG_051975.1 RefSeqGene

      Range
      5210..42587
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346712.2 → NP_001333641.1  arf-GAP with dual PH domain-containing protein 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC138207
      Consensus CDS
      CCDS86588.1
      UniProtKB/TrEMBL
      Q2V6Q1, Q53HQ4
      Related
      ENSP00000464121.1, ENST00000580525.5

    2. NM_001346714.2 → NP_001333643.1  arf-GAP with dual PH domain-containing protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses two alternate in-frame splice junctions compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC138207, BC033758
      UniProtKB/TrEMBL
      Q53HQ4
      Conserved Domains (3) summary
      cd01251
      Location:255 → 361
      PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2
      cd13252
      Location:133 → 241
      PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1
      pfam01412
      Location:8 → 126
      ArfGap; Putative GTPase activating protein for Arf

    3. NM_001346716.2 → NP_001333645.1  arf-GAP with dual PH domain-containing protein 2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC138207
      UniProtKB/TrEMBL
      Q53HQ4

    4. NM_018404.3 → NP_060874.1  arf-GAP with dual PH domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_060874.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC138207, AJ272195, BC033758
      Consensus CDS
      CCDS11261.1
      UniProtKB/Swiss-Prot
      Q8N4Q6, Q96SD5, Q9NPF8
      UniProtKB/TrEMBL
      Q53HQ4
      Related
      ENSP00000329468.3, ENST00000330889.8
      Conserved Domains (4) summary
      cd01251
      Location:255 → 362
      PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2
      cd13252
      Location:133 → 241
      PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1
      pfam00169
      Location:258 → 361
      PH; PH domain
      pfam01412
      Location:8 → 126
      ArfGap; Putative GTPase activating protein for Arf

    RNA

    1. NR_144488.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC138207

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      30921945..30959322
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024450834.2 → XP_024306602.1  arf-GAP with dual PH domain-containing protein 2 isoform X3

      UniProtKB/TrEMBL
      Q53HQ4
      Conserved Domains (3) summary
      cd13252
      Location:139 → 247
      PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1
      pfam01412
      Location:8 → 132
      ArfGap; Putative GTPase activating protein for Arf
      cl17171
      Location:261 → 353
      PH-like; Pleckstrin homology-like domain

    2. XM_024450832.2 → XP_024306600.1  arf-GAP with dual PH domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      Q53HQ4
      Conserved Domains (3) summary
      cd01251
      Location:261 → 367
      PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2
      cd13252
      Location:139 → 247
      PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1
      pfam01412
      Location:8 → 132
      ArfGap; Putative GTPase activating protein for Arf

    3. XM_024450833.2 → XP_024306601.1  arf-GAP with dual PH domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      Q53HQ4
      Conserved Domains (3) summary
      cd13252
      Location:139 → 247
      PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1
      pfam01412
      Location:8 → 132
      ArfGap; Putative GTPase activating protein for Arf
      cl17171
      Location:254 → 347
      PH-like; Pleckstrin homology-like domain

    4. XM_024450835.2 → XP_024306603.1  arf-GAP with dual PH domain-containing protein 2 isoform X4

      Conserved Domains (2) summary
      cd01251
      Location:133 → 240
      PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2
      cd13252
      Location:11 → 119
      PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791803.1 Reference GRCh38.p14 PATCHES

      Range
      1119..38496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333216.1 → XP_054189191.1  arf-GAP with dual PH domain-containing protein 2 isoform X3

    2. XM_054333214.1 → XP_054189189.1  arf-GAP with dual PH domain-containing protein 2 isoform X1

    3. XM_054333215.1 → XP_054189190.1  arf-GAP with dual PH domain-containing protein 2 isoform X2

    4. XM_054333217.1 → XP_054189192.1  arf-GAP with dual PH domain-containing protein 2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      31867653..31905026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316649.1 → XP_054172624.1  arf-GAP with dual PH domain-containing protein 2 isoform X3

    2. XM_054316647.1 → XP_054172622.1  arf-GAP with dual PH domain-containing protein 2 isoform X1

    3. XM_054316648.1 → XP_054172623.1  arf-GAP with dual PH domain-containing protein 2 isoform X2

    4. XM_054316650.1 → XP_054172625.1  arf-GAP with dual PH domain-containing protein 2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPF8.1 GenPept UniProtKB/Swiss-Prot:Q9NPF8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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