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Aliases for SOX30 Gene

Aliases for SOX30 Gene

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

External Ids for SOX30 Gene

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 may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may be involved in the differentiation of developing male germ cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for SOX30 Gene

SOX30 (SRY (Sex Determining Region Y)-Box 30) is a Protein Coding gene. Diseases associated with SOX30 include ocular hypertension. Among its related pathways are ERK Signaling. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding RNA polymerase II transcription factor activity.

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.

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

Genomics for SOX30 Gene

Genomic Location for SOX30 Gene

Start:
157,624,796 bp from pter
End:
157,672,128 bp from pter
Size:
47,333 bases
Orientation:
Minus strand

Genomic View for SOX30 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SOX30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOX30 Gene

Regulatory Elements 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

Proteomics data for SOX30 Gene at MOPED

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 for SOX30 Gene

Gene Families for SOX30 Gene

HGNC:
  • SOX :SRY (sex determining region Y)-boxes

Protein Domains for SOX30 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

SOX30_HUMAN
Domain:
  • Contains 1 HMG box DNA-binding domain.:
    • O94993
genes like me logo Genes that share domains with SOX30: view

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.

Gene Ontology (GO) - Molecular Function for SOX30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 NOT sequence-specific DNA binding RNA polymerase II transcription factor activity IDA 10359848
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

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SOX30 Gene

Localization for SOX30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX30 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SOX30 Gene COMPARTMENTS Subcellular localization image for SOX30 gene
Compartment Confidence
nucleus 5
cytosol 2
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

Pathways for SOX30 Gene

SuperPathways for SOX30 Gene

Superpath 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:0006357 NOT regulation of transcription from RNA polymerase II promoter IDA 10359848
GO:0006366 transcription from RNA polymerase II promoter IDA 10359848
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with SOX30: view

Transcripts for SOX30 Gene

Unigene Clusters for SOX30 Gene

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

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 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 (49.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SOX30 Gene

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.
genes like me logo Genes that share expressions with SOX30: view

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 36
  • 99.38 (n)
  • 98.94 (a)
SOX30 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SOX30 36
  • 86.91 (n)
  • 82.16 (a)
SOX30 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SOX30 36
  • 87.63 (n)
  • 83.15 (a)
SOX30 37
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sox30 36
  • 83.15 (n)
  • 78.49 (a)
Sox30 16
Sox30 37
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SOX30 37
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SOX30 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sox30 36
  • 86.16 (n)
  • 82.74 (a)
chicken
(Gallus gallus)
Aves SOX30 36
  • 64.81 (n)
  • 55.73 (a)
SOX30 37
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SOX30 37
  • 61 (a)
OneToOne
Species with no ortholog for SOX30:
  • 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

Selected 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

No data available for Paralogs for SOX30 Gene

Variants for SOX30 Gene

Sequence variations from dbSNP and Humsavar for SOX30 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs889057 - 157,626,357(-) AAAAA(A/G)TGCTC utr-variant-3-prime, missense, reference
rs1895341 -- 157,645,518(+) ttagc(C/T)aggca intron-variant
rs2112725 -- 157,658,282(-) CAAAT(A/C)ACGGT intron-variant
rs2112726 -- 157,658,280(-) AATCA(C/T)GGTAA intron-variant
rs2112727 -- 157,658,259(-) CTTTA(C/T)TATAA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1868e1 CNV Complex 17122850

Relevant External Links for SOX30 Gene

HapMap Linkage Disequilibrium report
SOX30

Disorders for SOX30 Gene

(1) MalaCards Diseases for SOX30 Gene

Search for SOX30 Gene in MalaCards »

(1) University of Copenhagen DISEASES for SOX30 Gene

Relevant External Links for SOX30

Genetic Association Database (GAD)
SOX30
genes like me logo Genes that share disorders with SOX30: view

No data available for UniProtKB/Swiss-Prot 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 Res. 1999) 3 4 23
  2. HMG-box sequences from microbats homologous to the human SOX30 HMG-box. (PMID: 11678506) Bullejos M. … SA!nchez A. (Genetica 2000) 2 3
  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
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Towards a proteome-scale map of the human protein-protein interaction network. (PMID: 16189514) Rual J.F. … Vidal M. (Nature 2005) 3

Products for SOX30 Gene

Sources for SOX30 Gene

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