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Aliases for SOX3 Gene

Aliases for SOX3 Gene

  • SRY (Sex Determining Region Y)-Box 3 2 3
  • Panhypopituitarism 2
  • GHDX 3
  • MRGH 3
  • PHPX 3
  • SOXB 3
  • PHP 3

External Ids for SOX3 Gene

Previous HGNC Symbols for SOX3 Gene

  • PHP

Previous GeneCards Identifiers for SOX3 Gene

  • GC0XM134169
  • GC0XM136443
  • GC0XM137530
  • GC0XM138290
  • GC0XM139310
  • GC0XM139412
  • GC0XM139585
  • GC0XM128852

Summaries for SOX3 Gene

Entrez Gene Summary for SOX3 Gene

  • This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked mental retardation with growth hormone deficiency. [provided by RefSeq, Jul 2008]

GeneCards Summary for SOX3 Gene

SOX3 (SRY (Sex Determining Region Y)-Box 3) is a Protein Coding gene. Diseases associated with SOX3 include hypertrichosis congenital generalized x-linked and mental retardation, x-linked, with isolated growth hormone deficiency. Among its related pathways are Signaling by GPCR and ERK Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II transcription corepressor activity. An important paralog of this gene is SOX11.

UniProtKB/Swiss-Prot for SOX3 Gene

  • Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity).

Gene Wiki entry for SOX3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOX3 Gene

Genomics for SOX3 Gene

Regulatory Elements for SOX3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SOX3 Gene

Chromosome:
X
Start:
140,502,987 bp from pter
End:
140,505,503 bp from pter
Size:
2,517 bases
Orientation:
Minus strand

Genomic View for SOX3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SOX3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOX3 Gene

Proteins for SOX3 Gene

  • Protein details for SOX3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41225-SOX3_HUMAN
    Recommended name:
    Transcription factor SOX-3
    Protein Accession:
    P41225
    Secondary Accessions:
    • P35714
    • Q5JWI3
    • Q9NP49

    Protein attributes for SOX3 Gene

    Size:
    446 amino acids
    Molecular mass:
    45210 Da
    Quaternary structure:
    • Interacts with SOX2 and FGFR1.

neXtProt entry for SOX3 Gene

Proteomics data for SOX3 Gene at MOPED

Post-translational modifications for SOX3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOX3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SOX3 Gene

Domains & Families for SOX3 Gene

Gene Families for SOX3 Gene

Protein Domains for SOX3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SOX3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P41225

UniProtKB/Swiss-Prot:

SOX3_HUMAN :
  • Contains 1 HMG box DNA-binding domain.
Domain:
  • Contains 1 HMG box DNA-binding domain.
genes like me logo Genes that share domains with SOX3: view

Function for SOX3 Gene

Molecular function for SOX3 Gene

GENATLAS Biochemistry:
SRY related HMG box gene 3,found in human fetal brain and spinal cord,deleted in a male patient with hemophilia and mental retardation (and testicular failure),modulator of LINE retroposons promoter activity
UniProtKB/Swiss-Prot Function:
Transcription factor required during the formation of the hypothalamo-pituitary axis. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation. Required also within the pharyngeal epithelia for craniofacial morphogenesis. Controls a genetic switch in male development. Is necessary for initiating male sex determination by directing the development of supporting cell precursors (pre-Sertoli cells) as Sertoli rather than granulosa cells (By similarity).

Gene Ontology (GO) - Molecular Function for SOX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding ISS --
GO:0001106 RNA polymerase II transcription corepressor activity ISS --
GO:0003677 DNA binding TAS 8625802
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with SOX3: view
genes like me logo Genes that share phenotypes with SOX3: view

Animal Models for SOX3 Gene

MGI Knock Outs for SOX3:

Animal Model Products

Targeted motifs for SOX3 Gene
HOMER Transcription Factor Regulatory Elements motif SOX3
  • Consensus sequence: CCWTTGTY Submotif: canonical Cell Type: NPC GEO ID: GSE33059

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SOX3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for SOX3 Gene

Localization for SOX3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SOX3 Gene COMPARTMENTS Subcellular localization image for SOX3 gene
Compartment Confidence
nucleus 5
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SOX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with SOX3: view

Pathways & Interactions for SOX3 Gene

genes like me logo Genes that share pathways with SOX3: view

SIGNOR curated interactions for SOX3 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for SOX3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0006351 transcription, DNA-templated IEA --
GO:0007417 central nervous system development TAS 8625802
GO:0007423 sensory organ development ISS --
GO:0007530 sex determination IMP 21183788
genes like me logo Genes that share ontologies with SOX3: view

Drugs & Compounds for SOX3 Gene

(1) Drugs for SOX3 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
alanine Nutra 97
genes like me logo Genes that share compounds with SOX3: view

Transcripts for SOX3 Gene

mRNA/cDNA for SOX3 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SOX3 Gene

SRY (sex determining region Y)-box 3:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SOX3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SOX3 Gene

No ASD Table

Relevant External Links for SOX3 Gene

GeneLoc Exon Structure for
SOX3
ECgene alternative splicing isoforms for
SOX3

Expression for SOX3 Gene

mRNA expression in normal human tissues for SOX3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SOX3 Gene

This gene is overexpressed in Testis (x7.2), Brain - Hypothalamus (x6.4), and Pituitary (x5.3).

Protein differential expression in normal tissues from HIPED for SOX3 Gene

This gene is overexpressed in Brain (68.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SOX3 Gene



SOURCE GeneReport for Unigene cluster for SOX3 Gene Hs.157429

genes like me logo Genes that share expression patterns with SOX3: view

Protein tissue co-expression partners for SOX3 Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SOX3 Gene

Orthologs for SOX3 Gene

This gene was present in the common ancestor of animals.

Orthologs for SOX3 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia SOX3 35
  • 90.99 (n)
  • 92.12 (a)
SOX3 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sox3 35
  • 89.81 (n)
  • 93.26 (a)
Sox3 16
Sox3 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SOX3 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SOX3 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves SOX3 35
  • 74.79 (n)
  • 77.22 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sox3 35
  • 72.79 (n)
  • 78.31 (a)
Str.8109 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.22 35
zebrafish
(Danio rerio)
Actinopterygii sox3 35
  • 74.66 (n)
  • 77.86 (a)
sox3 36
  • 76 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3413 35
fruit fly
(Drosophila melanogaster)
Insecta D 37
  • 78 (a)
Sox21a 37
  • 86 (a)
Sox21b 37
  • 63 (a)
SoxN 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sox-2 36
  • 36 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10093 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToMany
Species with no ortholog for SOX3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SOX3 Gene

ENSEMBL:
Gene Tree for SOX3 (if available)
TreeFam:
Gene Tree for SOX3 (if available)

Paralogs for SOX3 Gene

(5) SIMAP similar genes for SOX3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SOX3: view

Variants for SOX3 Gene

Sequence variations from dbSNP and Humsavar for SOX3 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs911092 -- 140,506,980(+) GTGTG(C/T)GCGCG upstream-variant-2KB
rs3035980 -- 140,506,944(-) cacac(-/ACACAC/ACACACAC)TGTAT upstream-variant-2KB
rs6634165 -- 140,503,225(+) TTTAG(C/G)TGCCG utr-variant-3-prime
rs12393235 -- 140,506,932(+) CTTCT(G/T)TGTGT upstream-variant-2KB
rs34614198 -- 140,506,123(+) CCGGG(-/G)CCCCC upstream-variant-2KB

Variation tolerance for SOX3 Gene

Gene Damage Index Score: 2.57; 44.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SOX3 Gene

HapMap Linkage Disequilibrium report
SOX3
Human Gene Mutation Database (HGMD)
SOX3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SOX3 Gene

Disorders for SOX3 Gene

MalaCards: The human disease database

(27) MalaCards diseases for SOX3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, NovoSeek, and GeneCards

UniProtKB/Swiss-Prot

SOX3_HUMAN
  • 46,XX sex reversal 3 (SRXX3) [MIM:300833]: A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269 PubMed:21183788}. Note=The disease is caused by mutations affecting the gene represented in this entry. Copy number variations (CNV) encompassing or in close proximity to SOX3 are responsible for XX male reversal. These variations include two duplications of approximately 123 kb and 85 kb, the former of which spans the entire SOX3 gene; a 343 kb deletion immediately upstream of SOX3 that is probably responsible of altered regulation (and not increased dosage) of SOX3; a large (approximately 6 Mb) duplication that encompasses SOX3 and at least 18 additional distally located genes. Its proximal breakpoint falls within the SOX3 regulatory region. This large rearrangement has been found in a patient with XX male reversal and a complex phenotype that also includes a scrotal hypoplasia, microcephaly, developmental delay, and growth retardation.
  • Mental retardation, X-linked, with isolated growth hormone deficiency (MRXGH) [MIM:300123]: A disorder characterized by the association of variable degrees of mental retardation with panhypopituitarism, variable combinations of hypothyroidism, delayed pubertal development, and short stature due to growth hormone deficiency. {ECO:0000269 PubMed:12428212}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Panhypopituitarism X-linked (PHPX) [MIM:312000]: Affected individuals have absent infundibulum, anterior pituitary hypoplasia, and ectopic posterior pituitary. {ECO:0000269 PubMed:15800844}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SOX3

Genetic Association Database (GAD)
SOX3
Human Genome Epidemiology (HuGE) Navigator
SOX3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SOX3
genes like me logo Genes that share disorders with SOX3: view

No data available for Genatlas for SOX3 Gene

Publications for SOX3 Gene

  1. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. (PMID: 15800844) Woods K.S. … Dattani M.T. (Am. J. Hum. Genet. 2005) 2 23 67
  2. PBX1 and MEIS1 up-regulate SOX3 gene expression by direct interaction with a consensus binding site within the basal promoter region. (PMID: 19799567) Mojsin M. … Stevanovic M. (Biochem. J. 2010) 23 67
  3. The male-determining gene SRY is a hybrid of DGCR8 and SOX3, and is regulated by the transcription factor CP2. (PMID: 19902333) Sato Y. … Nakahori Y. (Mol. Cell. Biochem. 2010) 23 67
  4. Xenopus Sox3 activates sox2 and geminin and indirectly represses Xvent2 expression to induce neural progenitor formation at the expense of non-neural ectodermal derivatives. (PMID: 18992330) Rogers C.D. … Casey E.S. (Mech. Dev. 2009) 23 67
  5. Role of transcription factors in midline central nervous system and pituitary defects. (PMID: 19293576) Kelberman D. … Dattani M.T. (Endocr Dev 2009) 23 67

Products for SOX3 Gene

Sources for SOX3 Gene

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