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SHOX2 (short stature homeobox 2)

Identity

Alias_symbol (synonym)SHOT
OG12X
OG12
Other alias
HGNC (Hugo) SHOX2
LocusID (NCBI) 6474
Atlas_Id 52186
Location 3q25.32  [Link to chromosome band 3q25]
Location_base_pair Starts at 157813800 and ends at 157823952 bp from pter ( according to hg19-Feb_2009)

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)SHOX2   10854
Cards
Entrez_Gene (NCBI)SHOX2  6474  short stature homeobox 2
AliasesOG12; OG12X; SHOT
GeneCards (Weizmann)SHOX2
Ensembl hg19 (Hinxton)ENSG00000168779 [Gene_View]  chr3:157813800-157823952 [Contig_View]  SHOX2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000168779 [Gene_View]  chr3:157813800-157823952 [Contig_View]  SHOX2 [Vega]
ICGC DataPortalENSG00000168779
TCGA cBioPortalSHOX2
AceView (NCBI)SHOX2
Genatlas (Paris)SHOX2
WikiGenes6474
SOURCE (Princeton)SHOX2
Genetics Home Reference (NIH)SHOX2
Genomic and cartography
GoldenPath hg19 (UCSC)SHOX2  -     chr3:157813800-157823952 -  3q25.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SHOX2  -     3q25.32   [Description]    (hg38-Dec_2013)
EnsemblSHOX2 - 3q25.32 [CytoView hg19]  SHOX2 - 3q25.32 [CytoView hg38]
Mapping of homologs : NCBISHOX2 [Mapview hg19]  SHOX2 [Mapview hg38]
OMIM602504   
Gene and transcription
Genbank (Entrez)AA450208 AF022654 AJ002367 AJ002368 AK095338
RefSeq transcript (Entrez)NM_001163678 NM_003030 NM_006884
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_005612 NW_004929311
Consensus coding sequences : CCDS (NCBI)SHOX2
Cluster EST : UnigeneHs.55967 [ NCBI ]
CGAP (NCI)Hs.55967
Alternative Splicing GalleryENSG00000168779
Gene ExpressionSHOX2 [ NCBI-GEO ]   SHOX2 [ EBI - ARRAY_EXPRESS ]   SHOX2 [ SEEK ]   SHOX2 [ MEM ]
Gene Expression Viewer (FireBrowse)SHOX2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6474
GTEX Portal (Tissue expression)SHOX2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60902   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60902  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60902
Splice isoforms : SwissVarO60902
PhosPhoSitePlusO60902
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    OAR (PS50803)   
Domains : Interpro (EBI)Homeobox_CS    Homeobox_dom    Homeodomain-like    HTH_motif    OAR_dom   
Domain families : Pfam (Sanger)Homeobox (PF00046)    OAR (PF03826)   
Domain families : Pfam (NCBI)pfam00046    pfam03826   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)SHOX2
DMDM Disease mutations6474
Blocks (Seattle)SHOX2
SuperfamilyO60902
Human Protein AtlasENSG00000168779
Peptide AtlasO60902
IPIIPI00295006   IPI00218369   IPI00793628   IPI01024865   IPI01024807   
Protein Interaction databases
DIP (DOE-UCLA)O60902
IntAct (EBI)O60902
FunCoupENSG00000168779
BioGRIDSHOX2
STRING (EMBL)SHOX2
ZODIACSHOX2
Ontologies - Pathways
QuickGOO60902
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  skeletal system development  osteoblast differentiation  positive regulation of mesenchymal cell proliferation  chondrocyte development  heart valve development  cardiac atrium morphogenesis  nucleus  nervous system development  heart development  regulation of chondrocyte differentiation  embryonic forelimb morphogenesis  sequence-specific DNA binding  positive regulation of smoothened signaling pathway  positive regulation of transcription from RNA polymerase II promoter  embryonic digestive tract morphogenesis  positive regulation of skeletal muscle fiber development  positive regulation of axonogenesis  embryonic skeletal joint morphogenesis  cartilage development involved in endochondral bone morphogenesis  muscle tissue morphogenesis  regulation of branching morphogenesis of a nerve  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  skeletal system development  osteoblast differentiation  positive regulation of mesenchymal cell proliferation  chondrocyte development  heart valve development  cardiac atrium morphogenesis  nucleus  nervous system development  heart development  regulation of chondrocyte differentiation  embryonic forelimb morphogenesis  sequence-specific DNA binding  positive regulation of smoothened signaling pathway  positive regulation of transcription from RNA polymerase II promoter  embryonic digestive tract morphogenesis  positive regulation of skeletal muscle fiber development  positive regulation of axonogenesis  embryonic skeletal joint morphogenesis  cartilage development involved in endochondral bone morphogenesis  muscle tissue morphogenesis  regulation of branching morphogenesis of a nerve  
NDEx NetworkSHOX2
Atlas of Cancer Signalling NetworkSHOX2
Wikipedia pathwaysSHOX2
Orthology - Evolution
OrthoDB6474
GeneTree (enSembl)ENSG00000168779
Phylogenetic Trees/Animal Genes : TreeFamSHOX2
HOVERGENO60902
HOGENOMO60902
Homologs : HomoloGeneSHOX2
Homology/Alignments : Family Browser (UCSC)SHOX2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSHOX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SHOX2
dbVarSHOX2
ClinVarSHOX2
1000_GenomesSHOX2 
Exome Variant ServerSHOX2
ExAC (Exome Aggregation Consortium)SHOX2 (select the gene name)
Genetic variants : HAPMAP6474
Genomic Variants (DGV)SHOX2 [DGVbeta]
DECIPHER (Syndromes)3:157813800-157823952  ENSG00000168779
CONAN: Copy Number AnalysisSHOX2 
Mutations
ICGC Data PortalSHOX2 
TCGA Data PortalSHOX2 
Broad Tumor PortalSHOX2
OASIS PortalSHOX2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSHOX2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSHOX2
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 SHOX2
DgiDB (Drug Gene Interaction Database)SHOX2
DoCM (Curated mutations)SHOX2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SHOX2 (select a term)
intoGenSHOX2
Cancer3DSHOX2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602504   
Orphanet
MedgenSHOX2
Genetic Testing Registry SHOX2
NextProtO60902 [Medical]
TSGene6474
GENETestsSHOX2
Huge Navigator SHOX2 [HugePedia]
snp3D : Map Gene to Disease6474
BioCentury BCIQSHOX2
ClinGenSHOX2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6474
Chemical/Pharm GKB GenePA35756
Clinical trialSHOX2
Miscellaneous
canSAR (ICR)SHOX2 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSHOX2
EVEXSHOX2
GoPubMedSHOX2
iHOPSHOX2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:27:13 CET 2017

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