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IQSEC2 Gene

protein-coding   GIFtS: 55
GCID: GC0XM053278

IQ Motif And Sec7 Domain 2

(Previous names: mental retardation, X-linked 1 (non-dysmorphic))
(Previous symbol: MRX1)
  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
IQ Motif And Sec7 Domain 21 2     Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 12
MRX11 2 5     Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 1b2
Mental Retardation, X-Linked 1 (Non-Dysmorphic)1 2     Brefeldin A Resistant Arf-Guanine Nucleotide Exchange Factor 1c2
KIAA05223 5     IQ Motif And SEC7 Domain-Containing Protein 22
BRAG12     

External Ids:    HGNC: 290591   Entrez Gene: 230962   Ensembl: ENSG000001243137   OMIM: 3005225   UniProtKB: Q5JU853   

Export aliases for IQSEC2 gene to outside databases

Previous GC identifers: GC0XM053146 GC0XM050327


(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 IQSEC2 Gene:
This gene encodes a guanine nucleotide exchange factor for the ARF family of small GTP-binding proteins. The
encoded protein is a component of the postsynaptic density at excitatory synapses, and may play a critical role
in cytoskeletal and synaptic organization through the activation of selected ARF substrates including ARF1 and
ARF6. Mutations in this gene have been implicated in nonsyndromic X-linked mental retardation. Alternatively
spliced transcript variants encoding multiple isoforms have been observed for this gene. (provided by RefSeq, Aug
2011)

GeneCards Summary for IQSEC2 Gene:
IQSEC2 (IQ motif and Sec7 domain 2) is a protein-coding gene. Diseases associated with IQSEC2 include mental retardation, x-linked 17/31, microduplication, and intellectual disability. GO annotations related to this gene include phospholipid binding and ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is CYTH3.

Gene Wiki entry for IQSEC2 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_000023.11  NT_011630.15  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IQSEC2 gene promoter:
         NF-1/L   NF-1   Nkx2-5   HEN1   AREB6   POU2F1   CP2   POU2F1a   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIQSEC2 promoter sequence
   Search Chromatin IP Primers for IQSEC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IQSEC2


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

Entrez Gene cytogenetic band: Xp11.22   Ensembl cytogenetic band:  Xp11.22   HGNC cytogenetic band: Xp11.23

IQSEC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IQSEC2 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM053278:  view genomic region     (about GC identifiers)

Start:
53,262,058 bp from pter      End:
53,350,522 bp from pter
Size:
88,465 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: IQEC2_HUMAN, Q5JU85 (See protein sequence)
Recommended Name: IQ motif and SEC7 domain-containing protein 2  
Size: 1478 amino acids; 161736 Da
Secondary accessions: B3KT97 C7SDG1 O60275 Q5JUX1
Alternative splicing: 3 isoforms:  Q5JU85-1   Q5JU85-2   Q5JU85-3   (Ref.1 (BAA25448) sequence differs from that shown due to erroneous initiation (Translation N-terminally shortened) and a frameshift in position 1458)

Explore the universe of human proteins at neXtProt for IQSEC2: NX_Q5JU85

Explore proteomics data for IQSEC2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See IQSEC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001104595.1  NP_001230126.1  NP_055890.1  

    ENSEMBL proteins: 
     ENSP00000379712   ENSP00000364514   ENSP00000364517  

    IQSEC2 Human Recombinant Protein Products:

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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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    5 InterPro protein domains:
     IPR001849 Pleckstrin_homology
     IPR023394 Sec7_alpha_orthog
     IPR011993 PH_like_dom
     IPR000904 Sec7_dom
     IPR000048 IQ_motif_EF-hand-BS

    Graphical View of Domain Structure for InterPro Entry Q5JU85

    ProtoNet protein and cluster: Q5JU85

    1 Blocks protein domain: IPB000904 SEC7-like domain

    UniProtKB/Swiss-Prot: IQEC2_HUMAN, Q5JU85
    Similarity: Belongs to the BRAG family
    Similarity: Contains 1 IQ domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SEC7 domain


    IQSEC2 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): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005086ARF guanyl-nucleotide exchange factor activity IBA--
    GO:0005515protein binding ----
         
    IQSEC2 for ontologies           About GeneDecksing


    Animal Models:
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    Selected qRT-PCR Assays for microRNAs that regulate IQSEC2 (see all 73):
    hsa-miR-3607-3p hsa-miR-1321 hsa-miR-300 hsa-miR-106a hsa-miR-374a hsa-miR-519a hsa-miR-4267 hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidIQSEC2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat IQSEC2

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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 UniProtKB/Swiss-Prot
    IQEC2_HUMAN, Q5JU85: Cytoplasm (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    cytoskeleton1
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IBA--
    GO:0005737cytoplasm IEA--
    GO:0005802NOT trans-Golgi network IBA--
    GO:0030054cell junction IBA--

    IQSEC2 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 IQSEC2 About    
    See pathways by source

    SuperPathContained pathways About
    1Endocytosis
    Endocytosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for IQSEC2):
        Endocytosis


    IQSEC2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IQSEC2
    Interactions:

        Search GeneGlobe Interaction Network for IQSEC2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for IQSEC2 (Q5JU853 ENSP000003797124) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DLG4P783523I2D: score=1 
    YWHABP319463I2D: score=1 
    BAIAP2L1ENSP000000052604STRING: ENSP00000005260
    BAIAP2ENSP000003163384STRING: ENSP00000316338
    DCCENSP000003891404STRING: ENSP00000389140
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016192NOT vesicle-mediated transport IBA--
    GO:0030036actin cytoskeleton organization IBA--
    GO:0032012regulation of ARF protein signal transduction IEA--
    GO:0043087regulation of GTPase activity IBA--

    IQSEC2 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 IQSEC2 (IQEC2)



    (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 IQSEC2 gene (3 alternative transcripts): 
    NM_001111125.2  NM_001243197.1  NM_015075.1  

    Unigene Cluster for IQSEC2:

    IQ motif and Sec7 domain 2
    Hs.496138  [show with all ESTs]
    Unigene Representative Sequence: NM_001111125
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396435(uc004dsc.3 uc004dsd.3) ENST00000375365(uc022bxf.1)
    ENST00000485377(uc004dsf.2) ENST00000462054(uc004dse.2) ENST00000498281
    ENST00000375368
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate IQSEC2 (see all 73):
    hsa-miR-3607-3p hsa-miR-1321 hsa-miR-300 hsa-miR-106a hsa-miR-374a hsa-miR-519a hsa-miR-4267 hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidIQSEC2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): IQSEC2 (NM_001111125)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IQSEC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IQSEC2
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IQSEC2
      QuantiTect SYBR Green Assays in human, mouse, rat IQSEC2
      QuantiFast Probe-based Assays in human, mouse, rat IQSEC2

    Additional mRNA sequence: 

    AB011094.1 AK095232.1 BC038213.1 BC044252.1 BC108674.1 FJ154890.1 FJ154891.1 FJ154892.1 
    FJ154893.1 

    11 DOTS entries:

    DT.100017063  DT.97769073  DT.400728  DT.208794  DT.92018383  DT.121309121  DT.92033421  DT.95364737 
    DT.99998799  DT.91639112  DT.95329369 

    Selected AceView cDNA sequences (see all 28):

    BI859372 AA043180 CB154423 AI216367 Z42970 AI356151 Z39089 BV175273 
    AI589811 BQ893281 BI837250 N27865 N40638 AK095232 BC044252 AB011094 
    AI393443 AA043179 AW960862 BF880978 BF375182 BQ224456 BE277403 BF571239 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for IQSEC2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
    SP1:                          -     -                                 
    SP2:                                                                  
    SP3:                          -                                       
    SP4:                                                                  


    ECgene alternative splicing isoforms for IQSEC2

    (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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    IQSEC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTCTGCCA
    IQSEC2 Expression
    About this image


    IQSEC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    IQSEC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IQSEC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.496138

    UniProtKB/Swiss-Prot: IQEC2_HUMAN, Q5JU85
    Tissue specificity: Expressed in brain, kidney and small intestine. Weakly expressed in placenta, pancreas, ovary,
    prostate and liver

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    In Situ
    Assay Products:
     

     
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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 IQSEC2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Iqsec21 , 5 IQ motif and Sec7 domain 21, 5 92.88(n)1
    98.99(a)1
      X (68.46 cM)5
    2456661  NM_001114664.11  NP_001108136.11 
     1521442725 
    lizard
    (Anolis carolinensis)
    Reptilia IQSEC26
    IQ motif and Sec7 domain 2
    72(a)
    1 ↔ 1
    2(89414438-89604826)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia iqsec21 IQ motif and Sec7 domain 2 70.69(n)
    76.12(a)
      100485600  XM_002940970.2  XP_002941016.2 
    zebrafish
    (Danio rerio)
    Actinopterygii iqsec21 IQ motif and Sec7 domain 2 67.31(n)
    70.65(a)
      797187  XM_001337607.5  XP_001337643.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta siz6
    schizo
    28(a)
    1 → many
    3L(21027635-21068544)


    ENSEMBL Gene Tree for IQSEC2 (if available)
    TreeFam Gene Tree for IQSEC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IQSEC2 gene
    CYTH32  IQSEC32  CYTH22  ARFGEF22  ENSG000002684652  ARFGEF12  IQSEC12  CYTH42  
    CYTH12  FBXO82  
    4 SIMAP similar genes for IQSEC2 using alignment to 2 protein entries:     IQEC2_HUMAN (see all proteins):
    IQSEC1    CYTH1    FLJ00017    MST051

    IQSEC2 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 IQSEC2 (see all 1033)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0637434
    Mental retardation, X-linked 1 (MRX1)4--see VAR_0637432 R Q mis40--------
    VAR_0637424
    Mental retardation, X-linked 1 (MRX1)4--see VAR_0637422 R C mis40--------
    VAR_0637454
    Mental retardation, X-linked 1 (MRX1)4--see VAR_0637452 R W mis40--------
    VAR_0637444
    Mental retardation, X-linked 1 (MRX1)4--see VAR_0637442 Q P mis40--------
    rs1835368851,2
    C--53275898(+) ATCCTA/GTGAAA 2 -- ds5001 int10--------
    rs1888129761,2
    --53276144(+) GTGTAA/TGAAAT 2 -- ds5001 int10--------
    rs128517911,2
    C,F,H--53276561(+) GGCAAG/AAAGAG 2 -- ut31 trp313Minor allele frequency- A:0.07NS EA NA 1627
    rs1908370401,2
    --53276756(+) CTCTCC/TCCAGG 2 -- ut310--------
    rs1139362241,2
    C,F--53276788(+) CCCAGC/TGAGGT 2 -- ut311Minor allele frequency- T:0.50CSA 2
    rs2014493311,2
    --53276918(+) CTGAG-/CCCCCC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for IQSEC2 (53262058 - 53350522 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for IQSEC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740175CNV Deletion23290073
    nsv435891CNV Deletion17901297

    Human Gene Mutation Database (HGMD): IQSEC2
    Locus Specific Mutation Databases (LSDB): IQSEC2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IQSEC2
    DNA2.0 Custom Variant and Variant Library Synthesis for IQSEC2

    (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: 300522   
    OMIM disorders: 309530  
    UniProtKB/Swiss-Prot: IQEC2_HUMAN, Q5JU85
  • Mental retardation, X-linked 1 (MRX1) [MIM:309530]: A disorder characterized by significantly below
    average general intellectual functioning associated with impairments in adaptive behavior and manifested during
    the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental
    retardation, while syndromic mental retardation presents with associated physical, neurological and/or
    psychiatric manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for IQSEC2:    
    About MalaCards
    mental retardation, x-linked 17/31, microduplication    intellectual disability    mental retardation    mental retardation, x-linked
    multiple myeloma    myeloma    prostatitis


    IQSEC2 for disorders           About GeneDecksing


    Export disorders for IQSEC2 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 IQSEC2 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with IQSEC2)
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    1. Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. (PubMed id 20473311)1, 2, 3 Shoubridge C....Gecz J. (Nat. Genet. 2010)
    2. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2, 3 Nagase T....Ohara O. (DNA Res. 1998)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    6. Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. (PubMed id 21686261)1 Shoubridge C....Harvey R.J. (Small GTPases 2010)
    7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    9. Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome. (PubMed id 21479374)1 Morleo M....Franco B. (Mol Med Rep 2008)
    10. Composition of the synaptic PSD-95 complex. (PubMed id 17623647)1 Dosemeci A....Markey S.P. (amp 2007)

    (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: 23096 HGNC: 29059 AceView: IQSEC2 Ensembl:ENSG00000124313 euGenes: HUgn23096
    ECgene: IQSEC2 Kegg: 23096 H-InvDB: IQSEC2

    (According to HUGE)
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    HUGE: KIAA0522

    (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 IQSEC2 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 IQSEC2 gene:
    Search GeneIP for patents involving IQSEC2

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



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