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IQSEC2 (IQ motif and Sec7 domain 2)

Identity

Alias_namesMRX1
mental retardation, X-linked 1 (non-dysmorphic)
Alias_symbol (synonym)KIAA0522
Other aliasBRAG1
IQ-ArfGEF
MRX18
MRX78
HGNC (Hugo) IQSEC2
LocusID (NCBI) 23096
Atlas_Id 64659
Location Xp11.22  [Link to chromosome band Xp11]
Location_base_pair Starts at 53232876 and ends at 53321324 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)IQSEC2   29059
Cards
Entrez_Gene (NCBI)IQSEC2  23096  IQ motif and Sec7 domain 2
AliasesBRAG1; IQ-ArfGEF; MRX1; MRX18; 
MRX78
GeneCards (Weizmann)IQSEC2
Ensembl hg19 (Hinxton)ENSG00000124313 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124313 [Gene_View]  ENSG00000124313 [Sequence]  chrX:53232876-53321324 [Contig_View]  IQSEC2 [Vega]
ICGC DataPortalENSG00000124313
TCGA cBioPortalIQSEC2
AceView (NCBI)IQSEC2
Genatlas (Paris)IQSEC2
WikiGenes23096
SOURCE (Princeton)IQSEC2
Genetics Home Reference (NIH)IQSEC2
Genomic and cartography
GoldenPath hg38 (UCSC)IQSEC2  -     chrX:53232876-53321324 -  Xp11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IQSEC2  -     Xp11.22   [Description]    (hg19-Feb_2009)
GoldenPathIQSEC2 - Xp11.22 [CytoView hg19]  IQSEC2 - Xp11.22 [CytoView hg38]
ImmunoBaseENSG00000124313
Mapping of homologs : NCBIIQSEC2 [Mapview hg19]  IQSEC2 [Mapview hg38]
OMIM300522   309530   
Gene and transcription
Genbank (Entrez)AB011094 AK095232 BC038213 BC044252 BC108674
RefSeq transcript (Entrez)NM_001111125 NM_001243197 NM_015075
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IQSEC2
Cluster EST : UnigeneHs.496138 [ NCBI ]
CGAP (NCI)Hs.496138
Alternative Splicing GalleryENSG00000124313
Gene ExpressionIQSEC2 [ NCBI-GEO ]   IQSEC2 [ EBI - ARRAY_EXPRESS ]   IQSEC2 [ SEEK ]   IQSEC2 [ MEM ]
Gene Expression Viewer (FireBrowse)IQSEC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23096
GTEX Portal (Tissue expression)IQSEC2
Human Protein AtlasENSG00000124313-IQSEC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5JU85   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5JU85  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5JU85
Splice isoforms : SwissVarQ5JU85
PhosPhoSitePlusQ5JU85
Domaine pattern : Prosite (Expaxy)IQ (PS50096)    SEC7 (PS50190)   
Domains : Interpro (EBI)IQ_motif_EF-hand-BS    IQSEC_PH    PH-like_dom_sf    PH_domain    Sec7_C_sf    Sec7_dom    Sec7_dom_sf   
Domain families : Pfam (Sanger)IQ_SEC7_PH (PF16453)    Sec7 (PF01369)   
Domain families : Pfam (NCBI)pfam16453    pfam01369   
Domain families : Smart (EMBL)PH (SM00233)  Sec7 (SM00222)  
Conserved Domain (NCBI)IQSEC2
DMDM Disease mutations23096
Blocks (Seattle)IQSEC2
PDB (RSDB)6FAE   
PDB Europe6FAE   
PDB (PDBSum)6FAE   
PDB (IMB)6FAE   
Structural Biology KnowledgeBase6FAE   
SCOP (Structural Classification of Proteins)6FAE   
CATH (Classification of proteins structures)6FAE   
SuperfamilyQ5JU85
Human Protein Atlas [tissue]ENSG00000124313-IQSEC2 [tissue]
Peptide AtlasQ5JU85
HPRD10012
IPIIPI00759479   IPI00872831   IPI00760993   
Protein Interaction databases
DIP (DOE-UCLA)Q5JU85
IntAct (EBI)Q5JU85
FunCoupENSG00000124313
BioGRIDIQSEC2
STRING (EMBL)IQSEC2
ZODIACIQSEC2
Ontologies - Pathways
QuickGOQ5JU85
Ontology : AmiGOARF guanyl-nucleotide exchange factor activity  cytoplasm  actin cytoskeleton organization  regulation of ARF protein signal transduction  modulation of chemical synaptic transmission  modulation of chemical synaptic transmission  Schaffer collateral - CA1 synapse  Schaffer collateral - CA1 synapse  regulation of neurotransmitter receptor localization to postsynaptic specialization membrane  regulation of neurotransmitter receptor localization to postsynaptic specialization membrane  
Ontology : EGO-EBIARF guanyl-nucleotide exchange factor activity  cytoplasm  actin cytoskeleton organization  regulation of ARF protein signal transduction  modulation of chemical synaptic transmission  modulation of chemical synaptic transmission  Schaffer collateral - CA1 synapse  Schaffer collateral - CA1 synapse  regulation of neurotransmitter receptor localization to postsynaptic specialization membrane  regulation of neurotransmitter receptor localization to postsynaptic specialization membrane  
NDEx NetworkIQSEC2
Atlas of Cancer Signalling NetworkIQSEC2
Wikipedia pathwaysIQSEC2
Orthology - Evolution
OrthoDB23096
GeneTree (enSembl)ENSG00000124313
Phylogenetic Trees/Animal Genes : TreeFamIQSEC2
HOGENOMQ5JU85
Homologs : HomoloGeneIQSEC2
Homology/Alignments : Family Browser (UCSC)IQSEC2
Gene fusions - Rearrangements
Fusion : QuiverIQSEC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIQSEC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IQSEC2
dbVarIQSEC2
ClinVarIQSEC2
1000_GenomesIQSEC2 
Exome Variant ServerIQSEC2
ExAC (Exome Aggregation Consortium)ENSG00000124313
GNOMAD BrowserENSG00000124313
Varsome BrowserIQSEC2
Genetic variants : HAPMAP23096
Genomic Variants (DGV)IQSEC2 [DGVbeta]
DECIPHERIQSEC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIQSEC2 
Mutations
ICGC Data PortalIQSEC2 
TCGA Data PortalIQSEC2 
Broad Tumor PortalIQSEC2
OASIS PortalIQSEC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIQSEC2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DIQSEC2
Mutations and Diseases : HGMDIQSEC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch IQSEC2
DgiDB (Drug Gene Interaction Database)IQSEC2
DoCM (Curated mutations)IQSEC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IQSEC2 (select a term)
intoGenIQSEC2
Cancer3DIQSEC2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300522    309530   
Orphanet3256    18850    22707   
DisGeNETIQSEC2
MedgenIQSEC2
Genetic Testing Registry IQSEC2
NextProtQ5JU85 [Medical]
TSGene23096
GENETestsIQSEC2
Target ValidationIQSEC2
Huge Navigator IQSEC2 [HugePedia]
snp3D : Map Gene to Disease23096
BioCentury BCIQIQSEC2
ClinGenIQSEC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23096
Chemical/Pharm GKB GenePA134870898
Clinical trialIQSEC2
Miscellaneous
canSAR (ICR)IQSEC2 (select the gene name)
DataMed IndexIQSEC2
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIQSEC2
EVEXIQSEC2
GoPubMedIQSEC2
iHOPIQSEC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Sep 3 15:32:10 CEST 2019

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