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SHROOM2 (shroom family member 2)

Identity

Alias_namesAPXL
apical protein, Xenopus laevis-like
apical protein-like (Xenopus laevis)
Other aliasHSAPXL
HGNC (Hugo) SHROOM2
LocusID (NCBI) 357
Atlas_Id 73235
Location Xp22.2  [Link to chromosome band Xp22]
Location_base_pair Starts at 9912372 and ends at 9949443 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SHROOM2 (Xp22.2) / ADNP (20q13.13)SHROOM2 (Xp22.2) / BHLHE41 (12p12.1)SHROOM2 (Xp22.2) / REPS2 (Xp22.2)
SHROOM2 (Xp22.2) / TOP1 (20q12)SHROOM2 REPS2SHROOM2 BHLHE41

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)SHROOM2   630
Cards
Entrez_Gene (NCBI)SHROOM2  357  shroom family member 2
AliasesAPXL; HSAPXL
GeneCards (Weizmann)SHROOM2
Ensembl hg19 (Hinxton)ENSG00000146950 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146950 [Gene_View]  chrX:9912372-9949443 [Contig_View]  SHROOM2 [Vega]
ICGC DataPortalENSG00000146950
TCGA cBioPortalSHROOM2
AceView (NCBI)SHROOM2
Genatlas (Paris)SHROOM2
WikiGenes357
SOURCE (Princeton)SHROOM2
Genetics Home Reference (NIH)SHROOM2
Genomic and cartography
GoldenPath hg38 (UCSC)SHROOM2  -     chrX:9912372-9949443 +  Xp22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SHROOM2  -     Xp22.2   [Description]    (hg19-Feb_2009)
EnsemblSHROOM2 - Xp22.2 [CytoView hg19]  SHROOM2 - Xp22.2 [CytoView hg38]
Mapping of homologs : NCBISHROOM2 [Mapview hg19]  SHROOM2 [Mapview hg38]
OMIM300103   
Gene and transcription
Genbank (Entrez)AK096596 AK299907 BC140866 BM678914 CR749271
RefSeq transcript (Entrez)NM_001320663 NM_001320664 NM_001649
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SHROOM2
Cluster EST : UnigeneHs.567236 [ NCBI ]
CGAP (NCI)Hs.567236
Alternative Splicing GalleryENSG00000146950
Gene ExpressionSHROOM2 [ NCBI-GEO ]   SHROOM2 [ EBI - ARRAY_EXPRESS ]   SHROOM2 [ SEEK ]   SHROOM2 [ MEM ]
Gene Expression Viewer (FireBrowse)SHROOM2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)357
GTEX Portal (Tissue expression)SHROOM2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13796   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13796  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13796
Splice isoforms : SwissVarQ13796
PhosPhoSitePlusQ13796
Domaine pattern : Prosite (Expaxy)ASD1 (PS51306)    ASD2 (PS51307)    PDZ (PS50106)   
Domains : Interpro (EBI)ASD1_dom    ASD2_dom    PDZ    Shroom_fam   
Domain families : Pfam (Sanger)ASD1 (PF08688)    ASD2 (PF08687)    PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam08688    pfam08687    pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
Conserved Domain (NCBI)SHROOM2
DMDM Disease mutations357
Blocks (Seattle)SHROOM2
PDB (SRS)5F4Y    5F5P   
PDB (PDBSum)5F4Y    5F5P   
PDB (IMB)5F4Y    5F5P   
PDB (RSDB)5F4Y    5F5P   
Structural Biology KnowledgeBase5F4Y    5F5P   
SCOP (Structural Classification of Proteins)5F4Y    5F5P   
CATH (Classification of proteins structures)5F4Y    5F5P   
SuperfamilyQ13796
Human Protein AtlasENSG00000146950
Peptide AtlasQ13796
HPRD02113
IPIIPI00015180   IPI00645014   IPI01013527   
Protein Interaction databases
DIP (DOE-UCLA)Q13796
IntAct (EBI)Q13796
FunCoupENSG00000146950
BioGRIDSHROOM2
STRING (EMBL)SHROOM2
ZODIACSHROOM2
Ontologies - Pathways
QuickGOQ13796
Ontology : AmiGOcell morphogenesis  cell morphogenesis  lens morphogenesis in camera-type eye  actin binding  protein binding  cytoskeleton  microtubule  plasma membrane  cell-cell adherens junction  bicellular tight junction  brain development  beta-catenin binding  eye pigment granule organization  ligand-gated sodium channel activity  apical plasma membrane  cell migration  cortical actin cytoskeleton  cortical actin cytoskeleton  establishment of melanosome localization  melanosome organization  sodium ion transmembrane transport  camera-type eye development  cellular pigment accumulation  ear development  apical protein localization  camera-type eye morphogenesis  actin filament binding  actin filament bundle assembly  extracellular exosome  
Ontology : EGO-EBIcell morphogenesis  cell morphogenesis  lens morphogenesis in camera-type eye  actin binding  protein binding  cytoskeleton  microtubule  plasma membrane  cell-cell adherens junction  bicellular tight junction  brain development  beta-catenin binding  eye pigment granule organization  ligand-gated sodium channel activity  apical plasma membrane  cell migration  cortical actin cytoskeleton  cortical actin cytoskeleton  establishment of melanosome localization  melanosome organization  sodium ion transmembrane transport  camera-type eye development  cellular pigment accumulation  ear development  apical protein localization  camera-type eye morphogenesis  actin filament binding  actin filament bundle assembly  extracellular exosome  
NDEx NetworkSHROOM2
Atlas of Cancer Signalling NetworkSHROOM2
Wikipedia pathwaysSHROOM2
Orthology - Evolution
OrthoDB357
GeneTree (enSembl)ENSG00000146950
Phylogenetic Trees/Animal Genes : TreeFamSHROOM2
HOVERGENQ13796
HOGENOMQ13796
Homologs : HomoloGeneSHROOM2
Homology/Alignments : Family Browser (UCSC)SHROOM2
Gene fusions - Rearrangements
Fusion: TCGASHROOM2 REPS2
Fusion: TCGASHROOM2 BHLHE41
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSHROOM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SHROOM2
dbVarSHROOM2
ClinVarSHROOM2
1000_GenomesSHROOM2 
Exome Variant ServerSHROOM2
ExAC (Exome Aggregation Consortium)SHROOM2 (select the gene name)
Genetic variants : HAPMAP357
Genomic Variants (DGV)SHROOM2 [DGVbeta]
DECIPHERSHROOM2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSHROOM2 
Mutations
ICGC Data PortalSHROOM2 
TCGA Data PortalSHROOM2 
Broad Tumor PortalSHROOM2
OASIS PortalSHROOM2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSHROOM2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSHROOM2
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
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch SHROOM2
DgiDB (Drug Gene Interaction Database)SHROOM2
DoCM (Curated mutations)SHROOM2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SHROOM2 (select a term)
intoGenSHROOM2
Cancer3DSHROOM2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300103   
Orphanet
MedgenSHROOM2
Genetic Testing Registry SHROOM2
NextProtQ13796 [Medical]
TSGene357
GENETestsSHROOM2
Target ValidationSHROOM2
Huge Navigator SHROOM2 [HugePedia]
snp3D : Map Gene to Disease357
BioCentury BCIQSHROOM2
ClinGenSHROOM2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD357
Chemical/Pharm GKB GenePA24916
Clinical trialSHROOM2
Miscellaneous
canSAR (ICR)SHROOM2 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSHROOM2
EVEXSHROOM2
GoPubMedSHROOM2
iHOPSHROOM2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:37:48 CEST 2017

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