Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SOX30 Gene

Aliases for SOX30 Gene

  • SRY-Box 30 2 3 5
  • SRY (Sex Determining Region Y)-Box 30 2
  • SRY Box 30 2

External Ids for SOX30 Gene

Previous GeneCards Identifiers for SOX30 Gene

  • GC05M157102
  • GC05M157603
  • GC05M156988
  • GC05M157033
  • GC05M156985
  • GC05M152141
  • GC05M157053

Summaries for SOX30 Gene

Entrez Gene Summary for SOX30 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 acts as a transcriptional regulator when present in a complex with other proteins. It can activate p53 transcription to promote tumor cell apoptosis in lung cancer. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Apr 2015]

GeneCards Summary for SOX30 Gene

SOX30 (SRY-Box 30) is a Protein Coding gene. Among its related pathways are ERK Signaling. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and RNA polymerase II transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is SOX5.

UniProtKB/Swiss-Prot for SOX30 Gene

  • Transcriptional activator. Binds to the DNA sequence 5-ACAAT-3 and shows a preference for guanine residues surrounding this core motif.

Additional gene information for SOX30 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOX30 Gene

Genomics for SOX30 Gene

GeneHancer (GH) Regulatory Elements for SOX30 Gene

Promoters and enhancers for SOX30 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I157669 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 558.2 +1.7 1737 2.7 HDGF ZNF493 ZNF529 BMI1 ZNF335 ZNF213 ZNF354C ZNF138 ZNF366 IKZF2 C5orf52 SOX30 THG1L MED7 ADAM19 PIR61662
GH05I157651 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 557.5 +21.1 21095 1.3 CTCF ZNF687 CEBPB MAX RAD21 SCRT2 ZBTB33 EZH2 SOX30 LOC105377675 ADAM19 CYFIP2 GC05P157624
GH05I157652 Promoter 0.8 EPDnew 550.3 +20.4 20359 0.1 CEBPA SCRT2 CEBPB ZBTB33 LOC105377675 SOX30 ADAM19 PIR35954
GH05I157686 Enhancer 0.2 ENCODE 5 -14.1 -14113 1.3 GC05M157689 PIR54404 C5orf52 SOX30P1 SOX30
GH05I157670 Enhancer 0.7 ENCODE 0.8 +3.6 3628 0.2 CTCF ESRRA ZNF654 NR2F1 ARID4B TRIM22 SIN3A REST ZEB2 RAD21 SOX30 C5orf52 PIR61662
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SOX30 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SOX30 gene promoter:

Genomic Locations for SOX30 Gene

Genomic Locations for SOX30 Gene
chr5:157,624,796-157,672,756
(GRCh38/hg38)
Size:
47,961 bases
Orientation:
Minus strand
chr5:157,052,687-157,098,488
(GRCh37/hg19)

Genomic View for SOX30 Gene

Genes around SOX30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOX30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOX30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOX30 Gene

Proteins for SOX30 Gene

  • Protein details for SOX30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94993-SOX30_HUMAN
    Recommended name:
    Transcription factor SOX-30
    Protein Accession:
    O94993
    Secondary Accessions:
    • O94995
    • Q8IYX6

    Protein attributes for SOX30 Gene

    Size:
    753 amino acids
    Molecular mass:
    81854 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SOX30 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SOX30 Gene

Post-translational modifications for SOX30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOX30 Gene

No data available for DME Specific Peptides for SOX30 Gene

Domains & Families for SOX30 Gene

Gene Families for SOX30 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SOX30 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SOX30 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SOX30: view

No data available for UniProtKB/Swiss-Prot for SOX30 Gene

Function for SOX30 Gene

Molecular function for SOX30 Gene

GENATLAS Biochemistry:
SRY related HMG box gene 30,expressed in testis,potentially involved in differentiation of male germ cells with two alternatively spliced isoforms,modulator of LINE retroposons promoter activity
UniProtKB/Swiss-Prot Function:
Transcriptional activator. Binds to the DNA sequence 5-ACAAT-3 and shows a preference for guanine residues surrounding this core motif.

Phenotypes From GWAS Catalog for SOX30 Gene

Gene Ontology (GO) - Molecular Function for SOX30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21516116
GO:0043565 sequence-specific DNA binding IDA 10359848
genes like me logo Genes that share ontologies with SOX30: view
genes like me logo Genes that share phenotypes with SOX30: view

Animal Models for SOX30 Gene

MGI Knock Outs for SOX30:

Animal Model Products

CRISPR Products

miRNA for SOX30 Gene

miRTarBase miRNAs that target SOX30

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SOX30 Gene

Localization for SOX30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX30 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SOX30 gene
Compartment Confidence
nucleus 5
cytosol 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SOX30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with SOX30: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SOX30 Gene

Pathways & Interactions for SOX30 Gene

SuperPathways for SOX30 Gene

SuperPathway Contained pathways
1 ERK Signaling
genes like me logo Genes that share pathways with SOX30: view

Pathways by source for SOX30 Gene

1 Qiagen pathway for SOX30 Gene

Gene Ontology (GO) - Biological Process for SOX30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007283 spermatogenesis IEA --
GO:0031960 response to corticosteroid IEP 18436822
genes like me logo Genes that share ontologies with SOX30: view

No data available for SIGNOR curated interactions for SOX30 Gene

Drugs & Compounds for SOX30 Gene

No Compound Related Data Available

Transcripts for SOX30 Gene

Unigene Clusters for SOX30 Gene

SRY (sex determining region Y)-box 30:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SOX30 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2: -

Relevant External Links for SOX30 Gene

GeneLoc Exon Structure for
SOX30
ECgene alternative splicing isoforms for
SOX30

Expression for SOX30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SOX30 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SOX30 Gene

This gene is overexpressed in Testis (x49.2).

Protein differential expression in normal tissues from HIPED for SOX30 Gene

This gene is overexpressed in Testis (57.0) and Heart (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SOX30 Gene



Protein tissue co-expression partners for SOX30 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SOX30 Gene:

SOX30

SOURCE GeneReport for Unigene cluster for SOX30 Gene:

Hs.744348

mRNA Expression by UniProt/SwissProt for SOX30 Gene:

O94993-SOX30_HUMAN
Tissue specificity: Expressed in testis.

Evidence on tissue expression from TISSUES for SOX30 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with SOX30: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX30 Gene

Orthologs for SOX30 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SOX30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SOX30 33 34
  • 99.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SOX30 34
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SOX30 33 34
  • 87.63 (n)
cow
(Bos Taurus)
Mammalia SOX30 33 34
  • 86.91 (n)
rat
(Rattus norvegicus)
Mammalia Sox30 33
  • 86.16 (n)
mouse
(Mus musculus)
Mammalia Sox30 33 16 34
  • 83.15 (n)
oppossum
(Monodelphis domestica)
Mammalia SOX30 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves SOX30 33 34
  • 64.81 (n)
lizard
(Anolis carolinensis)
Reptilia SOX30 34
  • 61 (a)
OneToOne
Species where no ortholog for SOX30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SOX30 Gene

ENSEMBL:
Gene Tree for SOX30 (if available)
TreeFam:
Gene Tree for SOX30 (if available)

Paralogs for SOX30 Gene

Paralogs for SOX30 Gene

(10) SIMAP similar genes for SOX30 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for SOX30 Gene

genes like me logo Genes that share paralogs with SOX30: view

Variants for SOX30 Gene

Sequence variations from dbSNP and Humsavar for SOX30 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000146346 -- 157,673,952(-) A/G upstream_transcript_variant
rs1000186119 -- 157,642,634(-) T/C intron_variant
rs1000272919 -- 157,672,241(-) C/T upstream_transcript_variant
rs1000335753 -- 157,651,555(-) A/G/T coding_sequence_variant, intron_variant, missense_variant
rs1000436624 -- 157,627,356(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SOX30 Gene

Variant ID Type Subtype PubMed ID
esv2759389 CNV loss 17122850

Variation tolerance for SOX30 Gene

Residual Variation Intolerance Score: 85.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.15; 75.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SOX30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOX30

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOX30 Gene

Disorders for SOX30 Gene

Additional Disease Information for SOX30

No disorders were found for SOX30 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SOX30 Gene

Publications for SOX30 Gene

  1. Identification of a novel Sry-related gene and its germ cell-specific expression. (PMID: 10359848) Osaki E … Semba K (Nucleic acids research 1999) 3 4 22 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Origin and diversity of the SOX transcription factor gene family: genome-wide analysis in Fugu rubripes. (PMID: 15019997) Koopman P … Venkatesh B (Gene 2004) 2 3 58
  4. HMG-box sequences from microbats homologous to the human SOX30 HMG-box. (PMID: 11678506) Bullejos M … Sánchez A (Genetica 2000) 2 3 58
  5. Aurora kinase A regulates Survivin stability through targeting FBXL7 in gastric cancer drug resistance and prognosis. (PMID: 28218735) Kamran M … Liu Q (Oncogenesis 2017) 3 58

Products for SOX30 Gene

Sources for SOX30 Gene

Content
Loading form....