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Aliases & Descriptions for SOX9
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| CMD1 2, 5 | | CMPD1 2 | | SRA1 1, 2, 5 |
| | | Descriptions |
|---|
| SRY (sex determining region Y)-box 9 2 | SRY (sex determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) 2 | SRY (sex-determining region Y)-box 9 (campomelic dysplasia, autosomal sex-reversal) 2 | | SRY (sex-determining region Y)-box 9 protein 2 | | campomelic dysplasia, autosomal sex-reversal 1, 2 | | transcription factor SOX9 2 |
|
| | Search outside databases for aliases for SOX9 genePrevious GC identifers: GC17P069873 GC17P073111 GC17P070581 GC17P070714 |
Summaries for SOX9(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for SOX9: The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq] UniProtKB/Swiss-Prot: SOX9_HUMAN, P48436Function: Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genesGene Wiki entry for SOX9 |
Genomic Location for SOX9
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the SOX9 gene 
Entrez Gene cytogenetic band: 17q24.3-q25.1 Ensembl cytogenetic band: 17q24.3 HGNC cytogenetic band: 17q23SOX9 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17P067628:
(about GC identifiers)
Start:
|
67,628,756 bp from pter |
End:
|
67,634,156 bp from pter |
Size:
|
5,401 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000017.9 NT_010641.15
| Proteins for SOX9
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: SOX9_HUMAN, P48436 (See
protein sequence)Recommended Name: Transcription factor SOX-9 Size: 509 amino acids; 56137 Da
Subcellular location: Nucleus (Potential)
PDB structure from and Proteopedia :1S9M (3D)
 1SX9 (3D)
 Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_000337.1
ENSEMBL proteins: ENSP00000245479
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: SOX9 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for SOX9: Assays for SOX9: | Protein
Domains/ Families for SOX9(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P48436
ProtoNet protein and cluster: P48436 UniProtKB/Swiss-Prot: SOX9_HUMAN, P48436Similarity: Contains 1 HMG box DNA-binding domain | Gene Function for SOX9
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000346
Applied Biosystems Silencer® siRNAs for SOX9
Sigma-Aldrich siRNA for SOX9  Sigma-Aldrich shRNA Panels and shRNA for SOX9  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000346                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000346                                  untagged cDNA clone in CMV expression vector: NM_000346 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000346
UniProtKB/Swiss-Prot: SOX9_HUMAN, P48436Function: Plays an important role in the normal skeletal development. May regulate the expression of other genes involved in chondrogenesis by acting as a transcription factor for these genesGenatlas biochemistry entry for SOX9:SRY related HMG box gene 9,expressed in the genital ridge of both sexes,in chondrocytes and in non-skeletal tissues,likely involved in the differentiation of Sertoli cells,potent activator of the chondrocyte-specific enhancer of COL2A1,required for cartilage formation,important mediator of the BMP2 and Indian hedgehog (IHH) sinaling pathways in osteogenic cells,modulator of LINE retroposons promoter activity15/17 MGI mutant phenotypes (inferred from 8 alleles ) (MGI details for Sox9) (see all 17
):
4 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003704 | specific RNA polymerase II transcription factor activity |
TAS | 10805756 | | GO:0005515 | protein binding |
IEA | -- | | GO:0016563 | transcription activator activity |
IEA | -- | | GO:0043565 | sequence-specific DNA binding |
IEA | -- | About this table | Pathways & Interactions for SOX9
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
1 Sigma-Aldrich "Your Favorite Gene" Pathway for SOX9 (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for SOX9 
5/87 Interacting proteins for SOX9 (ENSP000002454793) via UniProtKB, MINT, and/or STRING (see all 87
)About this table
5/13 Gene Ontology (GO) biological process terms (links to tree view) (see all 13
): About this table
|
Drugs & Compounds for SOX9(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for SOX9 10/11 Novoseek chemical compound relationships for SOX9 gene (see all 11
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| dmrt |
67.48 |
1 |
16868052 (1) |
| glycosaminoglycan |
60.29 |
11 |
15639641 (2), 18163512 (1), 19096623 (1), 18985688 (1) (see all 9) |
| cmps |
50.64 |
3 |
10213041 (1), 11076045 (1) |
| chondroitin sulfate |
22.27 |
8 |
18433381 (6) |
| ribonucleic acid |
17.46 |
2 |
17518710 (1), 11710435 (1) |
| oxygen |
0.00 |
5 |
17640365 (3), 15645446 (1) |
| steroid |
0.00 |
3 |
11008738 (1), 17234760 (1), 18190855 (1) |
| zinc |
0.00 |
1 |
10741423 (1) |
| glyceraldehyde 3-phosphate |
0.00 |
3 |
12923462 (2), 14563147 (1) |
| cyclic amp |
0.00 |
2 |
17289023 (1), 10980415 (1) |
About this table
|
Transcripts for SOX9(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000346
Sigma-Aldrich siRNA for SOX9  Sigma-Aldrich shRNA Panels and shRNA for SOX9  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000346 REFSEQ mRNAs for SOX9 gene: NM_000346.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000346               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000346                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000346                                  untagged cDNA clone in CMV expression vector: NM_000346  Additional cDNA sequence: AK295455.1 BC007951.2 BC018276.1 BC056420.1 BT006875.1 Z46629.1 4 DOTS entries: DT.416519 DT.95288976 DT.40299601 DT.97818151 24/205 AceView cDNA sequences (see all 205
):W95308 AI453423 AA400739 BC007951 AA975310 BU076661 BG056521 NM_000346 AW183687 BM762705 BM845551 W24710 AA778589 AI572187 AW080366 BQ045441 AA535677 AW005563 N92393 BQ182292 CA773589 CK300183 AA778708 BG697040
highest scoring ESTs for SOX9:Z46629 AA090808 AA322324 AA334252 AA375477 AA385905 AA400464 AA400739 AA420456 AA469215 Unigene Cluster for SOX9: SRY (sex determining region Y)-box 9 Hs.647409 [show with all ESTs]Unigene Representative Sequence: NM_000346
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000245479
|
Expression for SOX9
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| SOX9 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for SOX9
1 / 2 / 3 5 probe-sets matching SOX9 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TGTCATCCAT
SOURCE GeneReport for Unigene cluster: Hs.647409
Expression variation in blood from EXPOLDB for SOX9 |
Orthologs for SOX9
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for SOX9 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for SOX9
ENSEMBL Gene Tree for SOX9 | Paralogs for SOX9(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for SOX9 gene
- SRY2 SOX102 SOX82
|
SNPs/Variants for SOX9(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for SOX9 (up to first 250kb)
|
Disorders & Mutations for SOX9
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 608160 disorders: 114290 114290 114290 UniProtKB/Swiss-Prot: SOX9_HUMAN, P48436
Defects in SOX9 are the cause of campomelic dysplasia (CMD1) [MIM:114290]. CMD1 is a rare, often lethal, dominantly inherited, congenital osteochondrodysplasia, associated with male-to-female autosomal sex reversal in two-thirds of the affected karyotypic males. A disease of the newborn characterized by congenital bowing and angulation of long bones, unusually small scapulae, deformed pelvis and spine and a missing pair of ribs. Craniofacial defects such as cleft palate, micrognatia, flat face and hypertelorism are common. Various defects of the ear are often evident, affecting the cochlea, malleus incus, stapes and tympanum. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage10/28 Novoseek disease relationships for SOX9 gene (see all 28
)
About this table
GeneTests: SOX9 Campomelic Dysplasia Human Gene Mutation Database: SOX9 Genetic Association Database: SOX9 Human Genome Epidemiology Navigator: SOX9 (1 document)
|
Medical News for SOX9(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for SOX9 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/344 PubMed articles for SOX9 gene (see all 344
):- Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. (PubMed id 7485151)1, 3, 4 Kwok C.... Schafer A.J. (1995)
- Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. (PubMed id 10446171)1, 3, 4 McDowall S.... Harley V. (1999)
- Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. (PubMed id 9002675)1, 3, 4 Meyer J.... Scherer G. (1997)
- Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. (PubMed id 8001137)1, 3, 4 Wagner T.... Scherer G. (1994)
- Mutation analysis of five candidate genes in Chinese patients with hypospadias. (PubMed id 15266301)1, 3, 6 Wang Y....Shen Y. (2004)
- Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. (PubMed id 7990924)1, 3, 4 Foster J.W.... Schafer A.J. (1994)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Mutations in SRY and SOX9: testis-determining genes. (PubMed id 9143916)3, 4 Cameron F.J. and Sinclair A.H. (1997)
- Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. (PubMed id 8348155)2, 3 Tommerup N....Reinwein H. (1993)
- SOX9 is expressed in normal prostate basal cells and regulates androgen receptor expression in prostate cancer cells. (PubMed id 17234760)1, 3 Wang H....Yuan X. (2007)
|
Search for SOX9
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SOX9
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing SOX9
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SOX9(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=SOX9 |
|
| | | About This Section
| --
| Services for SOX9(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for SOX9:

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