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SOX3 (SRY-box transcription factor 3)

Identity

Alias (NCBI)GHDX
MRGH
PHP
PHPX
SOXB
HGNC (Hugo) SOX3
HGNC Previous namePHP
HGNC Previous namepanhypopituitarism
 SRY (sex determining region Y)-box 3
 SRY-box 3
LocusID (NCBI) 6658
Atlas_Id 54895
Location Xq27.1  [Link to chromosome band Xq27]
Location_base_pair Starts at 140502985 and ends at 140505069 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    SRY-box transcription factor 3
AliasesGHDX; MRGH; PHP; PHPX; 
SOXB
GeneCards (Weizmann)SOX3
Ensembl hg19 (Hinxton)ENSG00000134595 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134595 [Gene_View]  ENSG00000134595 [Sequence]  chrX:140502985-140505069 [Contig_View]  SOX3 [Vega]
ICGC DataPortalENSG00000134595
TCGA cBioPortalSOX3
AceView (NCBI)SOX3
Genatlas (Paris)SOX3
SOURCE (Princeton)SOX3
Genetics Home Reference (NIH)SOX3
Genomic and cartography
GoldenPath hg38 (UCSC)SOX3  -     chrX:140502985-140505069 -  Xq27.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SOX3  -     Xq27.1   [Description]    (hg19-Feb_2009)
GoldenPathSOX3 - Xq27.1 [CytoView hg19]  SOX3 - Xq27.1 [CytoView hg38]
ImmunoBaseENSG00000134595
Genome Data Viewer NCBISOX3 [Mapview hg19]  
OMIM300123   312000   313430   
Gene and transcription
Genbank (Entrez)AK313820 BC093863 BC093865 X65665 X71137
RefSeq transcript (Entrez)NM_005634
Consensus coding sequences : CCDS (NCBI)SOX3
Gene ExpressionSOX3 [ NCBI-GEO ]   SOX3 [ EBI - ARRAY_EXPRESS ]   SOX3 [ SEEK ]   SOX3 [ MEM ]
Gene Expression Viewer (FireBrowse)SOX3 [ Firebrowse - Broad ]
GenevisibleExpression of SOX3 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
PhosPhoSitePlusP41225
Domaine pattern : Prosite (Expaxy)HMG_BOX_2 (PS50118)   
Domains : Interpro (EBI)HMG_box_dom    HMG_box_dom_sf    SOX-3    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
SuperfamilyP41225
AlphaFold pdb e-kbP41225   
Human Protein Atlas [tissue]ENSG00000134595-SOX3 [tissue]
HPRD02432
Protein Interaction databases
DIP (DOE-UCLA)P41225
IntAct (EBI)P41225
BioGRIDSOX3
STRING (EMBL)SOX3
ZODIACSOX3
Ontologies - Pathways
QuickGOP41225
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA binding  protein binding  nucleoplasm  nucleoplasm  regulation of transcription, DNA-templated  central nervous system development  sensory organ development  sex determination  anatomical structure morphogenesis  hypothalamus development  pituitary gland development  cell differentiation  negative regulation of neuron differentiation  positive regulation of transcription by RNA polymerase II  face development  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA binding  protein binding  nucleoplasm  nucleoplasm  regulation of transcription, DNA-templated  central nervous system development  sensory organ development  sex determination  anatomical structure morphogenesis  hypothalamus development  pituitary gland development  cell differentiation  negative regulation of neuron differentiation  positive regulation of transcription by RNA polymerase II  face development  sequence-specific double-stranded DNA binding  
NDEx NetworkSOX3
Atlas of Cancer Signalling NetworkSOX3
Wikipedia pathwaysSOX3
Orthology - Evolution
OrthoDB6658
GeneTree (enSembl)ENSG00000134595
Phylogenetic Trees/Animal Genes : TreeFamSOX3
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
MonarchSOX3
1000_GenomesSOX3 
Exome Variant ServerSOX3
GNOMAD BrowserENSG00000134595
Varsome BrowserSOX3
ACMGSOX3 variants
VarityP41225
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]  
Somatic Mutations in Cancer : COSMIC3DSOX3
Mutations and Diseases : HGMDSOX3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSOX3
DgiDB (Drug Gene Interaction Database)SOX3
DoCM (Curated mutations)SOX3
CIViC (Clinical Interpretations of Variants in Cancer)SOX3
Cancer3DSOX3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300123    312000    313430   
Orphanet2825    5546    10905    12081    11521   
DisGeNETSOX3
MedgenSOX3
Genetic Testing Registry SOX3
NextProtP41225 [Medical]
GENETestsSOX3
Target ValidationSOX3
Huge Navigator SOX3 [HugePedia]
ClinGenSOX3 (curated)
Clinical trials, drugs, therapy
MyCancerGenomeSOX3
Protein Interactions : CTDSOX3
Pharm GKB GenePA36036
PharosP41225
Clinical trialSOX3
Miscellaneous
canSAR (ICR)SOX3
HarmonizomeSOX3
ARCHS4SOX3
DataMed IndexSOX3
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSOX3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 13:00:19 CET 2022

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