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    Adap2 ArfGAP with dual PH domains 2 [ Mus musculus (house mouse) ]

    Gene ID: 216991, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Adap2provided by MGI
    Official Full Name
    ArfGAP with dual PH domains 2provided by MGI
    Primary source
    MGI:MGI:2663075
    See related
    Ensembl:ENSMUSG00000020709 AllianceGenome:MGI:2663075
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Centa2
    Summary
    Predicted to enable anion binding activity and phosphatidylinositol binding activity. Predicted to be involved in positive regulation of GTPase activity. Predicted to act upstream of or within inositol lipid-mediated signaling. Predicted to be located in membrane and mitochondrial envelope. Predicted to be active in intracellular membrane-bounded organelle and plasma membrane. Is expressed in several structures, including brain; future brain; heart; inner ear; and limb bud. Orthologous to human ADAP2 (ArfGAP with dual PH domains 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in kidney adult (RPKM 6.0), liver adult (RPKM 4.2) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Adap2 in Genome Data Viewer
    Location:
    11 B5; 11 47.56 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (80044869..80071449)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (80154044..80178827)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_30136 Neighboring gene ATPase family, AAA domain containing 5 Neighboring gene STARR-seq mESC enhancer starr_30137 Neighboring gene STARR-seq mESC enhancer starr_30138 Neighboring gene transcription elongation factor, mitochondrial Neighboring gene ArfGAP with dual PH domains 2, opposite strand Neighboring gene STARR-seq mESC enhancer starr_30143 Neighboring gene STARR-positive B cell enhancer ABC_E7025 Neighboring gene ring finger protein 135 Neighboring gene ras homolog family member T1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome. Venturin M, et al. J Med Genet, 2014 Jul. PMID 24711647
    2. Evidence by expression analysis of candidate genes for congenital heart defects in the NF1 microdeletion interval. Venturin M, et al. Ann Hum Genet, 2005 Sep. PMID 16138909
    3. Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse. Jenne DE, et al. Genes Chromosomes Cancer, 2003 Jun. PMID 12696059
    4. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article
    5. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ADAP2 has a role in heart development, and might be a reliable candidate gene for the occurrence of cardiovascular malformations in patients with NF1 microdeletion.
      Title: ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 

    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 MGI

    Function Evidence Code Pubs
    enables 1-phosphatidylinositol binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables inositol 1,3,4,5 tetrakisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol bisphosphate 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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-3,4-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-4,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heart development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial envelope ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    arf-GAP with dual PH domain-containing protein 2
    Names
    centaurin, alpha 2
    cnt-a2

    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_172133.1 → NP_742145.1  arf-GAP with dual PH domain-containing protein 2

      See identical proteins and their annotated locations for NP_742145.1

      Status: PROVISIONAL

      Source sequence(s)
      BC027165
      Consensus CDS
      CCDS25128.1
      UniProtKB/Swiss-Prot
      Q8R2V5
      UniProtKB/TrEMBL
      Q3V340, Q5SSK2
      Related
      ENSMUSP00000021050.8, ENSMUST00000021050.14
      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:135 → 231
      PH; PH domain
      pfam01412
      Location:9 → 123
      ArfGap; Putative GTPase activating protein for Arf

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      80044869..80071449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036156584.1 → XP_036012477.1  arf-GAP with dual PH domain-containing protein 2 isoform X2

      Conserved Domains (2) summary
      cd13252
      Location:133 → 241
      PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1
      cl28907
      Location:4 → 117
      ArfGap; GTPase-activating protein (GAP) for the ADP ribosylation factors (ARFs)

    2. XM_036156583.1 → XP_036012476.1  arf-GAP with dual PH domain-containing protein 2 isoform X1

      Conserved Domains (3) summary
      cd01251
      Location:179 → 286
      PH2_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 2
      cd13252
      Location:57 → 165
      PH1_ADAP; ArfGAP with dual PH domains Pleckstrin homology (PH) domain, repeat 1
      cl28907
      Location:1 → 41
      ArfGap; GTPase-activating protein (GAP) for the ADP ribosylation factors (ARFs)

    RNA

    1. XR_004936921.1 RNA Sequence

    2. XR_004936920.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R2V5.1 GenPept UniProtKB/Swiss-Prot:Q8R2V5

    Gene LinkOut

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

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