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AGFG2 Gene

protein-coding   GIFtS: 50
GCID: GC07P100136

ArfGAP With FG Repeats 2

(Previous name: HIV-1 Rev binding protein-like)
(Previous symbol: HRBL)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ArfGAP With FG Repeats 21 2     Arf-GAP Domain And FG Repeat-Containing Protein 22
HRBL1 2 3 5     Arf-GAP Domain And FG Repeats-Containing Protein 22
RABR2 3 5     nucleoporin2
Rev/Rex Activation Domain-Binding Protein Related2 3     Rev/Rex Activation Domain Binding Protein-Related2
HIV-1 Rev-Binding Protein-Like Protein2 3     RAB-R3
HIV-1 Rev Binding Protein-Like1     

External Ids:    HGNC: 51771   Entrez Gene: 32682   Ensembl: ENSG000001063517   OMIM: 6040195   UniProtKB: O950813   

Export aliases for AGFG2 gene to outside databases

Previous GC identifers: GC07P099976 GC07P094769


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for AGFG2 Gene:
This gene is a member of the HIV-1 Rev binding protein (HRB) family and encodes a protein with one Arf-GAP zinc
finger domain, several phe-gly (FG) motifs, and four asn-pro-phe (NPF) motifs. This protein interacts with Eps15
homology (EH) domains and plays a role in the Rev export pathway, which mediates the nucleocytoplasmic transfer
of proteins and RNAs. Alternatively spliced transcript variants have been described, but their biological
validity has not been determined. (provided by RefSeq, Feb 2013)

GeneCards Summary for AGFG2 Gene:
AGFG2 (ArfGAP with FG repeats 2) is a protein-coding gene. Diseases associated with AGFG2 include xerophthalmia, and hiv-1. GO annotations related to this gene include ARF GTPase activator activity. An important paralog of this gene is AGFG1.

Gene Wiki entry for AGFG2 (HRBL) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AGFG2 gene promoter:
         c-Fos   AML1a   Tal-1   AP-1   ATF-2   E47   Egr-4   Gfi-1   c-Myb   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): AGFG2 promoter sequence
   Search Chromatin IP Primers for AGFG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AGFG2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22.1

AGFG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGFG2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P100136:  view genomic region     (about GC identifiers)

Start:
100,136,834 bp from pter      End:
100,165,843 bp from pter
Size:
29,010 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 99,496,460-99,525,478     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AGFG2_HUMAN, O95081 (See protein sequence)
Recommended Name: Arf-GAP domain and FG repeat-containing protein 2  
Size: 481 amino acids; 48963 Da
Subunit: Interacts with EPS15R (By similarity)
Sequence caution: Sequence=AAC78803.1; Type=Erroneous gene model prediction;
Secondary accessions: O75429 Q96AB9 Q96GL4
Alternative splicing: 2 isoforms:  O95081-1   O95081-2   

Explore the universe of human proteins at neXtProt for AGFG2: NX_O95081

Explore proteomics data for AGFG2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AGFG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006067.3  
    ENSEMBL proteins: 
     ENSP00000394453   ENSP00000300176   ENSP00000388594   ENSP00000262935  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ArfGAP: ADP-ribosylation factor GTPase activating proteins

    1 InterPro protein domain:
     IPR001164 ArfGAP

    Graphical View of Domain Structure for InterPro Entry O95081

    ProtoNet protein and cluster: O95081

    1 Blocks protein domain: IPB001164 HIV Rev interacting protein signature

    UniProtKB/Swiss-Prot: AGFG2_HUMAN, O95081
    Domain: Contains FG repeats and 4 N-P-F repeats
    Similarity: Contains 1 Arf-GAP domain


    AGFG2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0008060ARF GTPase activator activity IEA--
    GO:0008270zinc ion binding IEA--
         
    AGFG2 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for AGFG2:
     Cell cycle / mitosis defect  Decreased viability of wild-ty  Increased gamma-H2AX phosphory 

    Animal Models:
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    Block miRNA regulation of human, mouse, rat AGFG2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AGFG2 (see all 67):
    hsa-miR-520e hsa-miR-520f hsa-miR-1321 hsa-miR-15a hsa-miR-106a hsa-miR-200a hsa-miR-128 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidAGFG2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    AGFG2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AGFG2
    Interactions:

        Search GeneGlobe Interaction Network for AGFG2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for AGFG2 (O950813 ENSP000003001764) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EPS15L1Q9UBC23, ENSP000002480704I2D: score=1 STRING: ENSP00000248070
    EPS15P425663, ENSP000003607984I2D: score=3 STRING: ENSP00000360798
    ITSN1ENSP000003707194STRING: ENSP00000370719
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--
    GO:0032312regulation of ARF GTPase activity IEA--

    AGFG2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AGFG2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AGFG2 gene: 
    NM_006076.4  

    Unigene Cluster for AGFG2:

    ArfGAP with FG repeats 2
    Hs.521083  [show with all ESTs]
    Unigene Representative Sequence: NM_006076
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000430857 ENST00000477022(uc003uvg.1) ENST00000300176(uc003uvf.3)
    ENST00000474713 ENST00000429987 ENST00000262935
    miRNA
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    hsa-miR-520e hsa-miR-520f hsa-miR-1321 hsa-miR-15a hsa-miR-106a hsa-miR-200a hsa-miR-128 hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidAGFG2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat AGFG2
      QuantiFast Probe-based Assays in human, mouse, rat AGFG2

    Additional mRNA sequence: 

    AF015042.1 AK057758.1 AK090744.1 AK314954.1 BC009393.2 BC017329.2 BC047227.1 

    7 DOTS entries:

    DT.97774498  DT.100713995  DT.100695550  DT.424889  DT.100747284  DT.97839900  DT.95297758 

    Selected AceView cDNA sequences (see all 99):

    AK090744 CR597239 AK057758 BF843184 CR611659 BQ943086 BX105833 CR626460 
    BC009393 BC017329 NM_006076 AX746598 CK429601 BM547827 BU608908 T40281 
    Z45464 BC047227 CB991177 R34090 BG774126 BG025303 CD723391 BQ709627 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AGFG2    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                      -     -                                       
    SP2:                    -     -                                                         
    SP3:                                      -                                             


    ECgene alternative splicing isoforms for AGFG2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AGFG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    AGFG2 Expression
    About this image

    AGFG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AGFG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.521083
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for AGFG2 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Agfg21 , 5 ArfGAP with FG repeats 21, 5 82.56(n)1
    82.98(a)1
      5 (76.59 cM)5
    2318011  NM_178162.21  NP_835456.11 
     1376504835 
    lizard
    (Anolis carolinensis)
    Reptilia AGFG26
    ArfGAP with FG repeats 2
    54(a)
    1 ↔ 1
    GL344799.1(2324-11031)
    zebrafish
    (Danio rerio)
    Actinopterygii AGFG26
    ArfGAP with FG repeats 2
    28(a)
    1 ↔ 1
    7(21267564-21299676) ENSDARG00000069334
    fruit fly
    (Drosophila melanogaster)
    Insecta drongo6
    drongo
    16(a)
    1 → many
    2L(833584-851096)


    ENSEMBL Gene Tree for AGFG2 (if available)
    TreeFam Gene Tree for AGFG2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AGFG2 gene
    AGFG12  
    2 SIMAP similar genes for AGFG2 using alignment to 2 protein entries:     AGFG2_HUMAN (see all proteins):
    HRBL    AGFG1

    AGFG2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AGFG2 (see all 588)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1857031401,2
    Cuntested1100165881(+) GGGCCC/TGGAGT 1 -- ds50010--------
    rs78054981,2
    C--100134920(+) aatcgA/Cttgaa 1 -- us2k10--------
    rs1878695861,2
    --100134952(+) TGGGCA/GGATCA 1 -- us2k10--------
    rs1504040341,2
    --100135061(+) GTACTC/TCCAGC 1 -- us2k10--------
    rs1912291491,2
    --100135166(+) AAAGCC/GAGACC 1 -- us2k10--------
    rs1997209461,2
    --100135178(+) GTCTC-/AAAAAA 1 -- us2k10--------
    rs1147950851,2
    F--100135180(+) TCTCAA/GAAAAA 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1157049461,2
    F--100135205(+) AAAATG/AGTGAC 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs1837726821,2
    --100135289(+) CCAAGG/TCGGGA 1 -- us2k10--------
    rs1870133501,2
    --100135293(+) GGCGGA/GAGGCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AGFG2 (100136834 - 100165843 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for AGFG2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2734888CNV Deletion23290073
    dgv7399n71CNV Loss21882294
    dgv7398n71CNV Loss21882294
    dgv7400n71CNV Loss21882294
    nsv831072CNV Loss17160897
    nsv888779CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing AGFG2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604019    OMIM disorders: --

    3 diseases for AGFG2:    About MalaCards
    xerophthalmia    hiv-1    bronchiectasis

    2 diseases from the University of Copenhagen DISEASES database for AGFG2:
    Bronchiectasis     Xerophthalmia

    AGFG2 for disorders           About GeneDecksing


    Export disorders for AGFG2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AGFG2 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with AGFG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes. (PubMed id 9799793)1, 2, 3 Gloeckner G.... Rosenthal A. (Genome Res. 1998)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Binding specificity and in vivo targets of the EH domain, a novel protein-protein interaction module. (PubMed id 9303539)1, 2 Salcini A.E.... Di Fiore P.P. (Genes Dev. 1997)
    4. The eps15 homology (EH) domain-based interaction between eps15 and hrb connects the molecular machinery of endocytosis to that of nucleocytosolic transport. (PubMed id 10613896)1, 9 Doria M....Di Fiore P.P. (J. Cell Biol. 1999)
    5. Intersectin (ITSN) family of scaffolds function as molecular hubs in protein interaction networks. (PubMed id 22558309)1 Wong K.A....O'Bryan J.P. (PLoS ONE 2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. Rev-ing up post-transcriptional HIV-1 RNA expression. (PubMed id 21358275)1 Yedavalli V.S. and Jeang K.T. (RNA Biol 2011)
    8. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    9. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (Science 2009)
    10. Cellular proteins and HIV-1 Rev function. (PubMed id 19149558)1 Suhasini M. and Reddy T.R. (Curr. HIV Res. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3268 HGNC: 5177 AceView: HRBL Ensembl:ENSG00000106351 euGenes: HUgn3268
    ECgene: AGFG2 H-InvDB: AGFG2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AGFG2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AGFG2 gene:
    Search GeneIP for patents involving AGFG2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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