SOX30 Gene
protein-coding GIFtS: 51
GCID: GC05M157053
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|
SRY (sex determining region Y)-box 30
| |
Aliases
for SOX30 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| SRY (Sex Determining Region Y)-Box 301 2 | | Sox30 Protein Type II2 | | Transcription Factor SOX-302 |
Export aliases for SOX30 gene to outside databasesPrevious GC identifers: GC05M157102 GC05M157603 GC05M156988 GC05M157033 GC05M156985 GC05M152141 |
Summaries
for SOX30 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for SOX30:
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulationof embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptionalregulator after forming a protein complex with other proteins. The protein may be involved in the differentiation ofdeveloping male germ cells. Two transcript variants encoding distinct isoforms have been identified for this gene.(provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: SOX30_HUMAN, O94993Function: Transcriptional activator. Binds to the DNA sequence 5'-ACAAT-3' and shows a preference for guanine residuessurrounding this core motif
|
Genomic Views
for SOX30 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_023133.13
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the SOX30 gene promoter:
PPAR-alpha AREB6 IRF-2 AML1a Pax-6 STAT3 GATA-1 RSRFC4
Other transcription factors
Search SABiosciences Chromatin IP Primers for SOX30
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOX30 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q33 Ensembl cytogenetic band: 5q33.3 HGNC cytogenetic band: 5q33SOX30 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05M157053: view genomic region
(about GC identifiers)
Start:
|
157,052,687 bp from pter |
End:
|
157,098,488 bp from pter |
Size:
|
45,802 bases |
Orientation:
|
minus strand |
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Proteins
for SOX30 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: SOX30_HUMAN, O94993 (See
protein sequence)Recommended Name: Transcription factor SOX-30 Size: 753 amino acids; 81854 Da
Subcellular location: Nucleus
Secondary accessions: O94995 Q8IYX6Alternative splicing: 2 isoforms: O94993-1 O94993-2 Explore the universe of human proteins at neXtProt for SOX30: NX_O94993
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O94993
SOX30 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_008948.1 NP_848511.1
ENSEMBL proteins: ENSP00000309343 ENSP00000265007 ENSP00000427984
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- |
SOX30 for ontologies About GeneDecksing
SOX30 Antibody Products:
Assay Products for SOX30: |
Protein
Domains /
Families
for SOX30 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SOX30 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry O94993ProtoNet protein and cluster: O94993 UniProtKB/Swiss-Prot: SOX30_HUMAN, O94993Similarity: Contains 1 HMG box DNA-binding domain |
Function
for SOX30 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: SOX30_HUMAN, O94993Function: Transcriptional activator. Binds to the DNA sequence 5'-ACAAT-3' and shows a preference for guanine residuessurrounding this core motif Genatlas biochemistry entry for SOX30:SRY related HMG box gene 30,expressed in testis,potentially involved in differentiation of male germ cells with twoalternatively spliced isoforms,modulator of LINE retroposons promoter activity
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SOX30 (see all 3)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX30 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000981 | NOT sequence-specific DNA binding RNA polymerase II transcription factor activity |
IDA | 10359848 | | GO:0043565 | sequence-specific DNA binding |
IDA | 10359848 |
SOX30 for ontologies About GeneDecksing
|
Pathways & Interactions
for SOX30 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Rho Family GTPases | |
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for SOX30
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SOX30
STRING Interaction
Network Preview (showing 5 interactants - click image to see 12)
5/16 Interacting proteins for SOX30 (O949932, 3 ENSP000002650074) via UniProtKB, MINT, STRING, and/or I2D (see all 16)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table
SOX30 for ontologies About GeneDecksing
|
Drugs & Compounds
for SOX30 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for SOX30
Search CenterWatch for drugs/clinical trials and news about SOX30
|
Transcripts
for SOX30 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for SOX30 gene (2 alternative transcripts): NM_007017.2 NM_178424.1 Unigene Cluster for SOX30: SRY (sex determining region Y)-box 30 Hs.744348 [show with all ESTs]Unigene Representative Sequence: NM_1784243 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000311371 ENST00000265007(uc003lxb.1 uc003lxc.1 uc011dds.1)
ENST00000519442
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SOX30 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SOX30 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): SOX30 (NM_178424) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SOX30 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX30 |
Additional cDNA sequence: AB022083.1 AB022441.1 AK225861.1 AK302162.1 AK308329.1 BC033492.1 4 DOTS entries: DT.307222 DT.120875228 DT.120875234 DT.120875236 24/33 AceView cDNA sequences (see all 33): AI138249 BC033492 NM_178424 AA983409 BI830793 AA994615 BX100955 NM_007017 BC035142 AK055284 AI651883 BP370744 BI551315 BI826497 CD243909 AB022083 AI191937 CB044023 BI829275 AI223411 AB022441 AI917320 BI827150 AI797722
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for SOX30 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b |
|---|
|
| SP1: | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | | | | |
ECgene alternative splicing isoforms for SOX30
|
Expression
for SOX30 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SOX30 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAAAATACTG
About this image
See SOX30 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SOX30
SOURCE GeneReport for Unigene cluster: Hs.744348
UniProtKB/Swiss-Prot: SOX30_HUMAN, O94993Tissue specificity: Expressed in testis
SABiosciences Custom PCR Arrays for SOX30
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SOX30
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SOX30 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX30 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX30 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX30 |
Orthologs
for SOX30 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for SOX30 gene from 3/11 species (see all 11) About this table
ENSEMBL Gene Tree for SOX30 (if available)
TreeFam Gene Tree for SOX30 (if available) |
Paralogs
for SOX30 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for SOX30 gene
10 SIMAP similar genes for SOX30 using alignment to 2 protein entries: SOX30_HUMAN (see all proteins):SOX26 SOX27 SOX28 SOX25 soxB SOX11
SOX17 DKFZp586H0919 SOX15 SRY
SOX30 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for SOX30
PGOHUM00000235436
|
Genomic Variants
for SOX30 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for SOX30 (157052687 - 157098488 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SOX30
1 CNV: 3583 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SOX30 |
|
Disorders
/ Diseases
for SOX30 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
SOX30 for disorders About GeneDecksing
OMIM gene information: 606698
OMIM disorders: --
2  diseases for SOX30: About MalaCardsocular hypertension hypertension
1 disease from the University of Copenhagen DISEASES database for SOX30:Ocular hypertension Export disorders for SOX30 gene to outside databases
|
Publications
for SOX30 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SOX30 gene integrated from 9 sources:
(articles sorted by number of sources associating them with SOX30) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of a novel Sry-related gene and its germ cell-specific expression. (PubMed id 10359848)1, 2, 9 Osaki E.... Semba K. (1999)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Origin and diversity of the SOX transcription factor gene family: genome-wide analysis in Fugu rubripes. (PubMed id 15019997)1, 3 Koopman P....Venkatesh B. (2004)
- HMG-box sequences from microbats homologous to the human SOX30 HMG-box. (PubMed id 11678506)1, 3 Bullejos M....Sanchez A. (2000)
- Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
- Gene expression profiles of human trabecular meshwork cells induced by triamcinolone and dexamethasone. (PubMed id 18436822)1 Fan B.J....Pang C.P. (2008)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for SOX30 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing SOX30 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SOX30 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SOX30 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for SOX30 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for SOX30 gene:
Search GeneIP for patents involving SOX30
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for SOX30 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SOX30 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SOX30 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOX30 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SOX30 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SOX30 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SOX30 |
| |
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| |  |  |  |  | | | | |
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 |
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 | | | SOX30 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOX30 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SOX30 |
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