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IQSEC3 (IQ motif and Sec7 domain 3)

Identity

Alias_symbol (synonym)KIAA1110
MGC30156
Other alias-
HGNC (Hugo) IQSEC3
LocusID (NCBI) 440073
Atlas_Id 54384
Location 12p13.33  [Link to chromosome band 12p13]
Location_base_pair Starts at 77376 and ends at 171328 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)
FAM177A1 (14q13.2) / IQSEC3 (12p13.33)IQSEC3 (12p13.33) / CCNK (14q32.2)IQSEC3 (12p13.33) / KDM5A (12p13.33)
WNK1 (12p13.33) / IQSEC3 (12p13.33)FAM177A1 14q13.2 / IQSEC3 12p13.33WNK1 12p13.33 / IQSEC3 12p13.33

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  inv(12)(p13p13) IQSEC3/KDM5A


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  WNK1/IQSEC3 (12p13)
t(12;14)(p13;q13) FAM177A1/IQSEC3


External links

Nomenclature
HGNC (Hugo)IQSEC3   29193
Cards
Entrez_Gene (NCBI)IQSEC3  440073  IQ motif and Sec7 domain 3
Aliases
GeneCards (Weizmann)IQSEC3
Ensembl hg19 (Hinxton)ENSG00000120645 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000120645 [Gene_View]  ENSG00000120645 [Sequence]  chr12:77376-171328 [Contig_View]  IQSEC3 [Vega]
ICGC DataPortalENSG00000120645
TCGA cBioPortalIQSEC3
AceView (NCBI)IQSEC3
Genatlas (Paris)IQSEC3
WikiGenes440073
SOURCE (Princeton)IQSEC3
Genetics Home Reference (NIH)IQSEC3
Genomic and cartography
GoldenPath hg38 (UCSC)IQSEC3  -     chr12:77376-171328 +  12p13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IQSEC3  -     12p13.33   [Description]    (hg19-Feb_2009)
EnsemblIQSEC3 - 12p13.33 [CytoView hg19]  IQSEC3 - 12p13.33 [CytoView hg38]
Mapping of homologs : NCBIIQSEC3 [Mapview hg19]  IQSEC3 [Mapview hg38]
OMIM612118   
Gene and transcription
Genbank (Entrez)AB029033 AK091953 BC024764 BC042067
RefSeq transcript (Entrez)NM_001170738 NM_015232
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IQSEC3
Cluster EST : UnigeneHs.536319 [ NCBI ]
CGAP (NCI)Hs.536319
Alternative Splicing GalleryENSG00000120645
Gene ExpressionIQSEC3 [ NCBI-GEO ]   IQSEC3 [ EBI - ARRAY_EXPRESS ]   IQSEC3 [ SEEK ]   IQSEC3 [ MEM ]
Gene Expression Viewer (FireBrowse)IQSEC3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)440073
GTEX Portal (Tissue expression)IQSEC3
Human Protein AtlasENSG00000120645-IQSEC3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UPP2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UPP2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UPP2
Splice isoforms : SwissVarQ9UPP2
PhosPhoSitePlusQ9UPP2
Domaine pattern : Prosite (Expaxy)IQ (PS50096)    SEC7 (PS50190)   
Domains : Interpro (EBI)IQ_motif_EF-hand-BS    IQSEC_PH    PH-like_dom_sf    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)Sec7 (SM00222)  
Conserved Domain (NCBI)IQSEC3
DMDM Disease mutations440073
Blocks (Seattle)IQSEC3
SuperfamilyQ9UPP2
Human Protein Atlas [tissue]ENSG00000120645-IQSEC3 [tissue]
Peptide AtlasQ9UPP2
IPIIPI00829917   IPI00398940   
Protein Interaction databases
DIP (DOE-UCLA)Q9UPP2
IntAct (EBI)Q9UPP2
FunCoupENSG00000120645
BioGRIDIQSEC3
STRING (EMBL)IQSEC3
ZODIACIQSEC3
Ontologies - Pathways
QuickGOQ9UPP2
Ontology : AmiGOARF guanyl-nucleotide exchange factor activity  cytoplasm  postsynaptic density  actin cytoskeleton organization  cell junction  regulation of ARF protein signal transduction  postsynaptic membrane  inhibitory synapse  glycinergic synapse  GABA-ergic synapse  postsynaptic specialization of symmetric synapse  
Ontology : EGO-EBIARF guanyl-nucleotide exchange factor activity  cytoplasm  postsynaptic density  actin cytoskeleton organization  cell junction  regulation of ARF protein signal transduction  postsynaptic membrane  inhibitory synapse  glycinergic synapse  GABA-ergic synapse  postsynaptic specialization of symmetric synapse  
Pathways : KEGGEndocytosis   
NDEx NetworkIQSEC3
Atlas of Cancer Signalling NetworkIQSEC3
Wikipedia pathwaysIQSEC3
Orthology - Evolution
OrthoDB440073
GeneTree (enSembl)ENSG00000120645
Phylogenetic Trees/Animal Genes : TreeFamIQSEC3
HOVERGENQ9UPP2
HOGENOMQ9UPP2
Homologs : HomoloGeneIQSEC3
Homology/Alignments : Family Browser (UCSC)IQSEC3
Gene fusions - Rearrangements
Fusion : MitelmanFAM177A1/IQSEC3 [14q13.2/12p13.33]  [t(12;14)(p13;q13)]  
Fusion : MitelmanIQSEC3/KDM5A [12p13.33/12p13.33]  [inv(12)(p13p13)]  
Fusion : MitelmanWNK1/IQSEC3 [12p13.33/12p13.33]  [t(12;12)(p13;p13)]  
Fusion PortalFAM177A1 14q13.2 IQSEC3 12p13.33 BRCA
Fusion PortalWNK1 12p13.33 IQSEC3 12p13.33 OV
Fusion : QuiverIQSEC3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIQSEC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IQSEC3
dbVarIQSEC3
ClinVarIQSEC3
1000_GenomesIQSEC3 
Exome Variant ServerIQSEC3
ExAC (Exome Aggregation Consortium)ENSG00000120645
GNOMAD BrowserENSG00000120645
Varsome BrowserIQSEC3
Genetic variants : HAPMAP440073
Genomic Variants (DGV)IQSEC3 [DGVbeta]
DECIPHERIQSEC3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIQSEC3 
Mutations
ICGC Data PortalIQSEC3 
TCGA Data PortalIQSEC3 
Broad Tumor PortalIQSEC3
OASIS PortalIQSEC3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIQSEC3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIQSEC3
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 IQSEC3
DgiDB (Drug Gene Interaction Database)IQSEC3
DoCM (Curated mutations)IQSEC3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IQSEC3 (select a term)
intoGenIQSEC3
Cancer3DIQSEC3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612118   
Orphanet
DisGeNETIQSEC3
MedgenIQSEC3
Genetic Testing Registry IQSEC3
NextProtQ9UPP2 [Medical]
TSGene440073
GENETestsIQSEC3
Target ValidationIQSEC3
Huge Navigator IQSEC3 [HugePedia]
snp3D : Map Gene to Disease440073
BioCentury BCIQIQSEC3
ClinGenIQSEC3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD440073
Chemical/Pharm GKB GenePA134990290
Clinical trialIQSEC3
Miscellaneous
canSAR (ICR)IQSEC3 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIQSEC3
EVEXIQSEC3
GoPubMedIQSEC3
iHOPIQSEC3
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 Nov 6 11:13:48 CET 2018

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