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SHOX2 (short stature homeobox 2)

Identity

Alias (NCBI)OG12
OG12X
SHOT
HGNC (Hugo) SHOX2
HGNC Alias symbSHOT
OG12X
OG12
LocusID (NCBI) 6474
Atlas_Id 52186
Location 3q25.32  [Link to chromosome band 3q25]
Location_base_pair Starts at 158096011 and ends at 158106163 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)SHOX2   10854
Cards
Entrez_Gene (NCBI)SHOX2    short stature homeobox 2
AliasesOG12; OG12X; SHOT
GeneCards (Weizmann)SHOX2
Ensembl hg19 (Hinxton)ENSG00000168779 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168779 [Gene_View]  ENSG00000168779 [Sequence]  chr3:158096011-158106163 [Contig_View]  SHOX2 [Vega]
ICGC DataPortalENSG00000168779
TCGA cBioPortalSHOX2
AceView (NCBI)SHOX2
Genatlas (Paris)SHOX2
SOURCE (Princeton)SHOX2
Genetics Home Reference (NIH)SHOX2
Genomic and cartography
GoldenPath hg38 (UCSC)SHOX2  -     chr3:158096011-158106163 -  3q25.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SHOX2  -     3q25.32   [Description]    (hg19-Feb_2009)
GoldenPathSHOX2 - 3q25.32 [CytoView hg19]  SHOX2 - 3q25.32 [CytoView hg38]
ImmunoBaseENSG00000168779
Genome Data Viewer NCBISHOX2 [Mapview hg19]  
OMIM602504   
Gene and transcription
Genbank (Entrez)AA450208 AF022654 AJ002367 AJ002368 AK095338
RefSeq transcript (Entrez)NM_001163678 NM_003030 NM_006884
Consensus coding sequences : CCDS (NCBI)SHOX2
Gene ExpressionSHOX2 [ NCBI-GEO ]   SHOX2 [ EBI - ARRAY_EXPRESS ]   SHOX2 [ SEEK ]   SHOX2 [ MEM ]
Gene Expression Viewer (FireBrowse)SHOX2 [ Firebrowse - Broad ]
GenevisibleExpression of SHOX2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6474
GTEX Portal (Tissue expression)SHOX2
Human Protein AtlasENSG00000168779-SHOX2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusO60902
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    OAR (PS50803)   
Domains : Interpro (EBI)Homeobox-like_sf    Homeobox_CS    Homeobox_dom    HTH_motif    OAR_dom   
Domain families : Pfam (Sanger)Homeodomain (PF00046)    OAR (PF03826)   
Domain families : Pfam (NCBI)pfam00046    pfam03826   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)SHOX2
SuperfamilyO60902
AlphaFold pdb e-kbO60902   
Human Protein Atlas [tissue]ENSG00000168779-SHOX2 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)O60902
IntAct (EBI)O60902
BioGRIDSHOX2
STRING (EMBL)SHOX2
ZODIACSHOX2
Ontologies - Pathways
QuickGOO60902
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  chromatin  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  skeletal system development  osteoblast differentiation  regulation of heart rate  positive regulation of mesenchymal cell proliferation  chondrocyte development  sinoatrial node development  heart valve development  cardiac right atrium morphogenesis  nucleus  regulation of transcription by RNA polymerase II  nervous system development  regulation of chondrocyte differentiation  embryonic forelimb morphogenesis  positive regulation of smoothened signaling pathway  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  cardiac pacemaker cell differentiation  sinoatrial node cell development  sequence-specific double-stranded DNA binding  regulation of branching morphogenesis of a nerve  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  chromatin  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  skeletal system development  osteoblast differentiation  regulation of heart rate  positive regulation of mesenchymal cell proliferation  chondrocyte development  sinoatrial node development  heart valve development  cardiac right atrium morphogenesis  nucleus  regulation of transcription by RNA polymerase II  nervous system development  regulation of chondrocyte differentiation  embryonic forelimb morphogenesis  positive regulation of smoothened signaling pathway  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  cardiac pacemaker cell differentiation  sinoatrial node cell development  sequence-specific double-stranded DNA binding  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
Homologs : HomoloGeneSHOX2
Homology/Alignments : Family Browser (UCSC)SHOX2
Gene fusions - Rearrangements
Fusion : QuiverSHOX2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSHOX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SHOX2
dbVarSHOX2
ClinVarSHOX2
MonarchSHOX2
1000_GenomesSHOX2 
Exome Variant ServerSHOX2
GNOMAD BrowserENSG00000168779
Varsome BrowserSHOX2
ACMGSHOX2 variants
VarityO60902
Genomic Variants (DGV)SHOX2 [DGVbeta]
DECIPHERSHOX2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DSHOX2
Mutations and Diseases : HGMDSHOX2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSHOX2
DgiDB (Drug Gene Interaction Database)SHOX2
DoCM (Curated mutations)SHOX2
CIViC (Clinical Interpretations of Variants in Cancer)SHOX2
Cancer3DSHOX2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602504   
Orphanet
DisGeNETSHOX2
MedgenSHOX2
Genetic Testing Registry SHOX2
NextProtO60902 [Medical]
GENETestsSHOX2
Target ValidationSHOX2
Huge Navigator SHOX2 [HugePedia]
ClinGenSHOX2
Clinical trials, drugs, therapy
MyCancerGenomeSHOX2
Protein Interactions : CTDSHOX2
Pharm GKB GenePA35756
PharosO60902
Clinical trialSHOX2
Miscellaneous
canSAR (ICR)SHOX2
HarmonizomeSHOX2
DataMed IndexSHOX2
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSHOX2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:31:07 CEST 2021

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