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AGFG1 Gene

protein-coding   GIFtS: 56
GCID: GC02P228336

ArfGAP With FG Repeats 1

(Previous name: HIV-1 Rev binding protein)
(Previous symbol: HRB)
  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 11 2     Rev/Rex Activation Domain-Binding Protein2 3
HRB1 2 3 5     HIV-1 Rev-Binding Protein2 3
RAB2 3 5     Arf-GAP Domain And FG Repeat-Containing Protein 12
RIP2 3 5     Arf-GAP Domain And FG Repeats-Containing Protein 12
HIV-1 Rev Binding Protein1 2     HRIP, Rev Interacting Protein2
Nucleoporin-Like Protein RIP2 3     Rab, Rev/Rex Activation Domain-Binding Protein2
Rev-Interacting Protein2 3     

External Ids:    HGNC: 51751   Entrez Gene: 32672   Ensembl: ENSG000001737447   OMIM: 6008625   UniProtKB: P525943   

Export aliases for AGFG1 gene to outside databases

Previous GC identifers: GC02P228046 GC02P220179


(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 AGFG1 Gene:
The protein encoded by this gene is related to nucleoporins, a class of proteins that mediate nucleocytoplasmic
transport. The encoded protein binds the activation domain of the human immunodeficiency virus Rev protein when
Rev is assembled onto its RNA target, and is required for the nuclear export of Rev-directed RNAs. Multiple
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Sep 2008)

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

UniProtKB/Swiss-Prot: AGFG1_HUMAN, P52594
Function: Required for vesicle docking or fusion during acrosome biogenesis (By similarity). May play a role in
RNA trafficking or localization. In case of infection by HIV-1, acts as a cofactor for viral Rev and promotes
movement of Rev-responsive element-containing RNAs from the nuclear periphery to the cytoplasm. This step is
essential for HIV-1 replication

Gene Wiki entry for AGFG1 (HRB) 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_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the AGFG1 gene promoter:
         MEF-2A   IRF-2   AML1a   FOXF2   AP-1   ATF-2   FOXD3   aMEF-2   c-Jun   POU3F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAGFG1 promoter sequence
   Search Chromatin IP Primers for AGFG1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AGFG1


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

Entrez Gene cytogenetic band: 2q36.3   Ensembl cytogenetic band:  2q36.3   HGNC cytogenetic band: 2q36

AGFG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGFG1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P228336:  view genomic region     (about GC identifiers)

Start:
228,336,868 bp from pter      End:
228,425,938 bp from pter
Size:
89,071 bases      Orientation:
plus strand

(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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AGFG1_HUMAN, P52594 (See protein sequence)
Recommended Name: Arf-GAP domain and FG repeat-containing protein 1  
Size: 562 amino acids; 58260 Da
Subunit: Interacts with EPS15R and EPS15. Interacts with FCHO1
3 PDB 3D structures from and Proteopedia for AGFG1:
2D9L (3D)        2OLM (3D)        2VX8 (3D)    
Secondary accessions: B3KUL1 E9PHX7 Q15277 Q4VAS0 Q4VAS1 Q4VAS3 Q53QT8 Q53R11
Alternative splicing: 4 isoforms:  P52594-1   P52594-2   P52594-3   P52594-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AGFG1: NX_P52594

Explore proteomics data for AGFG1 at MOPED

Post-translational modifications: 

  • O-glycosylated (By similarity)1
  • Glycosylation2 at Ser367
  • Modification sites at PhosphoSitePlus

  • See AGFG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001128659.1  NP_001128660.1  NP_001128661.1  NP_004495.2  

    ENSEMBL proteins: 
     ENSP00000387282   ENSP00000312059   ENSP00000387154   ENSP00000362775   ENSP00000387218  
     ENSP00000405429   ENSP00000396469  

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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 P52594

    ProtoNet protein and cluster: P52594

    1 Blocks protein domain: IPB001164 HIV Rev interacting protein signature

    UniProtKB/Swiss-Prot: AGFG1_HUMAN, P52594
    Domain: Contains FG repeats. The FG repeat region is required for acting as a cofactor of HIV-1 Rev
    Similarity: Contains 1 Arf-GAP domain


    AGFG1 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AGFG1_HUMAN, P52594
    Function: Required for vesicle docking or fusion during acrosome biogenesis (By similarity). May play a role in
    RNA trafficking or localization. In case of infection by HIV-1, acts as a cofactor for viral Rev and promotes
    movement of Rev-responsive element-containing RNAs from the nuclear periphery to the cytoplasm. This step is
    essential for HIV-1 replication

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding TAS7634337
    GO:0005515protein binding IPI11545741
    GO:0008060ARF GTPase activator activity IEA--
    GO:0008270zinc ion binding IEA--
         
    AGFG1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Agfg1):
     reproductive system 

    AGFG1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AGFG1
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    miRNA
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    Block miRNA regulation of human, mouse, rat AGFG1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AGFG1 (see all 166):
    hsa-miR-579 hsa-miR-128 hsa-miR-3653 hsa-miR-138-2* hsa-miR-342-3p hsa-miR-502-3p hsa-miR-3622b-3p hsa-miR-1243
    SwitchGear 3'UTR luciferase reporter plasmidAGFG1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AGFG1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGFG1


    (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 UniProtKB/Swiss-Prot
    AGFG1_HUMAN, P52594: Nucleus. Cytoplasmic vesicle
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    golgi apparatus4
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005643nuclear pore TAS7637788
    GO:0005794Golgi apparatus ----
    GO:0016023cytoplasmic membrane-bounded vesicle IEA--
    GO:0042995cell projection ----
    GO:0043025neuronal cell body ----

    AGFG1 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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    SuperPaths for AGFG1 About    
    See pathways by source

    SuperPathContained pathways About
    1Influenza A
    Influenza A0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for AGFG1):
        Influenza A


    AGFG1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AGFG1: 
              Toll-Like Receptor Signaling Pathway in human mouse rat
              TNF Ligands & Receptors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for AGFG1

    4 Interacting proteins for AGFG1 (P525941, 2, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EPS15P425662, 3MINT-50023 MINT-50024 I2D: score=5 
    VAMP7P518091, 3EBI-996560,EBI-1052205 I2D: score=1 
    APCP250543I2D: score=3 
    EPS15L1Q9UBC23I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001675acrosome assembly ----
    GO:0006406mRNA export from nucleus TAS7634337
    GO:0007275multicellular organismal development IEA--
    GO:0007283spermatogenesis IEA--
    GO:0007289spermatid nucleus differentiation ----

    AGFG1 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 AGFG1

    Selected Novoseek inferred chemical compound relationships for AGFG1 gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gdp 84.5 62 11099382 (3), 8164745 (2), 8139660 (2), 8858211 (2) (see all 34)
    gtp 81.1 70 9915824 (2), 8662963 (2), 7585614 (2), 10196122 (2) (see all 40)
    geranylgeranyl pyrophosphate 57.8 1 11141079 (1)
    guanosine 56.2 8 8380507 (1), 17082457 (1), 19797081 (1), 19729655 (1) (see all 7)
    farnesyl diphosphate 48.1 1 17332236 (1)
    mannose 6-phosphate 38.4 1 10757979 (1)
    risedronate 32 6 16619218 (3), 17332236 (1), 16831938 (1)
    ibandronate 27.7 2 17332236 (1), 16831938 (1)
    mevalonate 26.6 3 9703948 (1), 17332236 (1), 16831938 (1)
    cysteine 25.7 12 7991565 (3), 9677305 (2), 8380507 (1), 9915824 (1) (see all 7)



    AGFG1 for compounds           About GeneDecksing



    (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,
    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 AGFG1 gene (4 alternative transcripts): 
    NM_001135187.1  NM_001135188.1  NM_001135189.1  NM_004504.4  

    Unigene Cluster for AGFG1:

    ArfGAP with FG repeats 1
    Hs.352962  [show with all ESTs]
    Unigene Representative Sequence: NM_001135187
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000409979 ENST00000310078(uc002vpd.2 uc002vpc.2 uc002vpe.2 uc002vpf.2)
    ENST00000409315 ENST00000373671 ENST00000409171 ENST00000456594 ENST00000486932
    ENST00000458212
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    Selected qRT-PCR Assays for microRNAs that regulate AGFG1 (see all 166):
    hsa-miR-579 hsa-miR-128 hsa-miR-3653 hsa-miR-138-2* hsa-miR-342-3p hsa-miR-502-3p hsa-miR-3622b-3p hsa-miR-1243
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    Additional mRNA sequence: 

    AK097451.1 AK295030.1 BC030592.2 BC039332.1 BC045581.1 BC096272.3 BC096273.3 BC096274.1 
    BC096275.3 BX648387.1 X89478.1 

    15 DOTS entries:

    DT.455219  DT.411637  DT.310344  DT.92436716  DT.100782973  DT.95091247  DT.92035225  DT.92436717 
    DT.92436718  DT.95091251  DT.97787279  DT.100658589  DT.86841346  DT.91820690  DT.97815998 

    Selected AceView cDNA sequences (see all 304):

    BU619927 BM474292 BF446214 CA446905 N25211 AL597907 AW276512 BU687113 
    BI861184 BC039332 AI027013 BE856160 Z44591 AA485958 AI362359 AL042924 
    AI797352 AA258581 AA992595 BU188673 BF002203 CB115733 AI138561 BQ220128 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for AGFG1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                                                                                      -                           
    SP2:                    -                                                                                             
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                    -     -                                                                                       


    ECgene alternative splicing isoforms for AGFG1

    (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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    AGFG1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTGCTACA
    AGFG1 Expression
    About this image


    AGFG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Testis (Reproductive System)
     
     Placenta (Extraembryonic Tissues)
    AGFG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AGFG1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.352962

    UniProtKB/Swiss-Prot: AGFG1_HUMAN, P52594
    Tissue specificity: Ubiquitously expressed

        Pathway & Disease-focused RT2 Profiler PCR Arrays including AGFG1: 
              Toll-Like Receptor Signaling Pathway in human mouse rat
              TNF Ligands & Receptors in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat AGFG1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGFG1

    (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 AGFG1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Agfg11 , 5 ArfGAP with FG repeats 11, 5 92.73(n)1
    96.78(a)1
      1 (42.55 cM)5
    154631  NM_010472.21  NP_034602.11 
     828394835 
    chicken
    (Gallus gallus)
    Aves AGFG11 ArfGAP with FG repeats 1 84.19(n)
    86.13(a)
      424793  XM_422611.4  XP_422611.3 
    lizard
    (Anolis carolinensis)
    Reptilia AGFG16
    ArfGAP with FG repeats 1
    86(a)
    1 ↔ 1
    3(23361043-23401208)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.319562 Xenopus laevis transcribed sequence with moderate similarity more 82.46(n)    BU916921.1 
    zebrafish
    (Danio rerio)
    Actinopterygii hrb2 HIV-1 Rev binding protein 78.64(n)   327597  BC056768.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta drongo6
    drongo
    21(a)
    1 → many
    2L(833584-851096)


    ENSEMBL Gene Tree for AGFG1 (if available)
    TreeFam Gene Tree for AGFG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AGFG1 gene
    AGFG22  
    3 SIMAP similar genes for AGFG1 using alignment to 4 protein entries:     AGFG1_HUMAN (see all proteins):
    ARFGAP3    AGFG2    HRBL

    AGFG1 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 AGFG1 (see all 1685)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs610467221,2
    C--220188646(+) TTTTT-/T/TT/ 
    TTT
    /TTTT
    GAATT
    8 -- int1 cds12NA 4
    rs342456581,2
    C--220258132(+) TTGTC-/GTCTGTTA 4 -- int12Minor allele frequency- GTC:0.25NA 4
    rs58392231,2
    C--227742234(-) ttttt-/T/T   
       T
    /TTT
    aagga
    8 -- int1 cds1 trp30--------
    rs768337631,2
    C--228336852(+) CTTGCC/GGTCCC 4 -- us2k10--------
    rs621894521,2
    F--228337588(+) AGGGAG/CGGGGC 4 -- int11Minor allele frequency- C:0.50NA 2
    rs1136402011,2
    C,F--228337619(+) GTCTCC/TGTCGA 4 -- int11Minor allele frequency- T:0.20NA 120
    rs1898618391,2
    --228337658(+) CTACCA/CGGGGC 4 -- int10--------
    rs129995321,2
    C,F--228337674(+) GCTGTT/GGGGGG 4 -- int14Minor allele frequency- G:0.46NA 126
    rs129993841,2
    C,F--228337758(+) GGAGCG/CGCGGT 4 -- int16Minor allele frequency- C:0.13NA WA 246
    rs730814491,2
    C,F--228337959(+) AGTTCG/TAAAGG 4 -- int12Minor allele frequency- T:0.05WA 120

    HapMap Linkage Disequilibrium report for AGFG1 (228336868 - 228425938 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for AGFG1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834560CNV Loss17160897
    nsv834561CNV Gain17160897
    esv259807OTHER Complex20981092

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AGFG1
    DNA2.0 Custom Variant and Variant Library Synthesis for AGFG1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600862    OMIM disorders: --

    Selected diseases for AGFG1 (see all 27):    
    About MalaCards
    griscelli syndrome type 2    griscelli syndrome    choroideremia    hiv-1
    hermansky-pudlak syndrome    tetanus    tuberous sclerosis    retinal degeneration
    myocarditis    blindness    retinitis    choroiditis
    influenza    mental retardation    insulin resistance    myeloma
    neuroblastoma    melanoma    tuberculosis    rheumatoid arthritis


    AGFG1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for AGFG1 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    choroideremia 84.3 6 9009830 (1), 11796263 (1), 14597139 (1), 18463892 (1)
    griscelli syndrome, type 2 70.7 1 12446441 (1)
    hermansky-pudlak syndrome 60 2 11796263 (1)
    retinal degeneration 30.7 2 12401133 (1), 14612978 (1)
    mental retardation 24.1 8 9668174 (2), 18829665 (1), 15785799 (1), 18463892 (1) (see all 6)
    inflammation 2.25 1 10648831 (1)
    bleeding 2.03 1 14597139 (1)
    tuberous sclerosis 0 1 14597139 (1)
    blindness 0 1 14597139 (1)
    myeloma 0 3 16619218 (2)

    Genetic Association Database (GAD): AGFG1
    Human Genome Epidemiology (HuGE) Navigator: AGFG1 (1 document)

    Export disorders for AGFG1 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 AGFG1 gene, integrated from 10 sources (see all 298):
    (articles sorted by number of sources associating them with AGFG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human nucleoporin-like protein that specifically interacts with HIV Rev. (PubMed id 7637788)1, 2, 3 Fritz C.C.... Green M.R. (Nature 1995)
    2. 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, 2, 9 Doria M....Di Fiore P.P. (J. Cell Biol. 1999)
    3. Investigation of genetic variants within candidate genes of the TNFRSF1B signalling pathway on the response to anti-TNF agents in a UK cohort of rheumatoid arthritis patients. (PubMed id 19262425)1, 4 Bowes J.D....Barton A. (Pharmacogenet. Genomics 2009)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    6. The cellular HIV-1 Rev cofactor hRIP is required for viral replication. (PubMed id 15749819)1, 2 Yu Z....Zapp M.L. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. hRIP, a cellular cofactor for Rev function, promotes release of HIV RNAs from the perinuclear region. (PubMed id 14701878)1, 2 Sanchez-Velar N.... Zapp M.L. (Genes Dev. 2004)
    9. 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)
    10. Identification of a novel cellular cofactor for the Rev/Rex class of retroviral regulatory proteins. (PubMed id 7634337)1, 2 Bogerd H.P.... Cullen B.R. (Cell 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3267 HGNC: 5175 AceView: HRB Ensembl:ENSG00000173744 euGenes: HUgn3267
    ECgene: AGFG1 Kegg: 3267 H-InvDB: AGFG1

    (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 AGFG1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AGFG1 gene:
    Search GeneIP for patents involving AGFG1

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



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