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SOX3 (SRY-box 3)

Identity

Alias_namesPHP
panhypopituitarism
SRY (sex determining region Y)-box 3
SRY box 3
Other aliasGHDX
MRGH
PHPX
SOXB
HGNC (Hugo) SOX3
LocusID (NCBI) 6658
Atlas_Id 54895
Location Xq27.1  [Link to chromosome band Xq27]
Location_base_pair Starts at 140502987 and ends at 140505060 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)
SOX3 (Xq27.1) / SOX3 (Xq27.1)

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)SOX3   11199
Cards
Entrez_Gene (NCBI)SOX3  6658  SRY-box 3
AliasesGHDX; MRGH; PHP; PHPX; 
SOXB
GeneCards (Weizmann)SOX3
Ensembl hg19 (Hinxton)ENSG00000134595 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134595 [Gene_View]  ENSG00000134595 [Sequence]  chrX:140502987-140505060 [Contig_View]  SOX3 [Vega]
ICGC DataPortalENSG00000134595
TCGA cBioPortalSOX3
AceView (NCBI)SOX3
Genatlas (Paris)SOX3
WikiGenes6658
SOURCE (Princeton)SOX3
Genetics Home Reference (NIH)SOX3
Genomic and cartography
GoldenPath hg38 (UCSC)SOX3  -     chrX:140502987-140505060 -  Xq27.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SOX3  -     Xq27.1   [Description]    (hg19-Feb_2009)
EnsemblSOX3 - Xq27.1 [CytoView hg19]  SOX3 - Xq27.1 [CytoView hg38]
Mapping of homologs : NCBISOX3 [Mapview hg19]  SOX3 [Mapview hg38]
OMIM300123   312000   313430   
Gene and transcription
Genbank (Entrez)AK313820 BC093863 BC093865 X65665 X71137
RefSeq transcript (Entrez)NM_005634
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SOX3
Cluster EST : UnigeneHs.157429 [ NCBI ]
CGAP (NCI)Hs.157429
Alternative Splicing GalleryENSG00000134595
Gene ExpressionSOX3 [ NCBI-GEO ]   SOX3 [ EBI - ARRAY_EXPRESS ]   SOX3 [ SEEK ]   SOX3 [ MEM ]
Gene Expression Viewer (FireBrowse)SOX3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6658
GTEX Portal (Tissue expression)SOX3
Human Protein AtlasENSG00000134595-SOX3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP41225   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP41225  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP41225
Splice isoforms : SwissVarP41225
PhosPhoSitePlusP41225
Domaine pattern : Prosite (Expaxy)HMG_BOX_2 (PS50118)   
Domains : Interpro (EBI)HMG_box_dom    SOX_fam   
Domain families : Pfam (Sanger)HMG_box (PF00505)    SOXp (PF12336)   
Domain families : Pfam (NCBI)pfam00505    pfam12336   
Domain families : Smart (EMBL)HMG (SM00398)  
Conserved Domain (NCBI)SOX3
DMDM Disease mutations6658
Blocks (Seattle)SOX3
SuperfamilyP41225
Human Protein Atlas [tissue]ENSG00000134595-SOX3 [tissue]
Peptide AtlasP41225
HPRD02432
IPIIPI00240510   
Protein Interaction databases
DIP (DOE-UCLA)P41225
IntAct (EBI)P41225
FunCoupENSG00000134595
BioGRIDSOX3
STRING (EMBL)SOX3
ZODIACSOX3
Ontologies - Pathways
QuickGOP41225
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II transcription corepressor activity  DNA binding  nucleoplasm  nucleoplasm  transcription, DNA-templated  central nervous system development  sensory organ development  sex determination  hypothalamus development  pituitary gland development  negative regulation of neuron differentiation  face development  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  RNA polymerase II core promoter sequence-specific DNA binding  RNA polymerase II transcription corepressor activity  DNA binding  nucleoplasm  nucleoplasm  transcription, DNA-templated  central nervous system development  sensory organ development  sex determination  hypothalamus development  pituitary gland development  negative regulation of neuron differentiation  face development  
NDEx NetworkSOX3
Atlas of Cancer Signalling NetworkSOX3
Wikipedia pathwaysSOX3
Orthology - Evolution
OrthoDB6658
GeneTree (enSembl)ENSG00000134595
Phylogenetic Trees/Animal Genes : TreeFamSOX3
HOVERGENP41225
HOGENOMP41225
Homologs : HomoloGeneSOX3
Homology/Alignments : Family Browser (UCSC)SOX3
Gene fusions - Rearrangements
Fusion : QuiverSOX3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSOX3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SOX3
dbVarSOX3
ClinVarSOX3
1000_GenomesSOX3 
Exome Variant ServerSOX3
ExAC (Exome Aggregation Consortium)ENSG00000134595
GNOMAD BrowserENSG00000134595
Genetic variants : HAPMAP6658
Genomic Variants (DGV)SOX3 [DGVbeta]
DECIPHERSOX3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSOX3 
Mutations
ICGC Data PortalSOX3 
TCGA Data PortalSOX3 
Broad Tumor PortalSOX3
OASIS PortalSOX3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSOX3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSOX3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch SOX3
DgiDB (Drug Gene Interaction Database)SOX3
DoCM (Curated mutations)SOX3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SOX3 (select a term)
intoGenSOX3
Cancer3DSOX3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300123    312000    313430   
Orphanet2825    5546    10905    12081    11521   
DisGeNETSOX3
MedgenSOX3
Genetic Testing Registry SOX3
NextProtP41225 [Medical]
TSGene6658
GENETestsSOX3
Target ValidationSOX3
Huge Navigator SOX3 [HugePedia]
snp3D : Map Gene to Disease6658
BioCentury BCIQSOX3
ClinGenSOX3 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6658
Chemical/Pharm GKB GenePA36036
Clinical trialSOX3
Miscellaneous
canSAR (ICR)SOX3 (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSOX3
EVEXSOX3
GoPubMedSOX3
iHOPSOX3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:51:14 CEST 2018

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