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 rever... See more...

Aliases for SOX9 Gene

Aliases for SOX9 Gene

  • SRY-Box Transcription Factor 9 2 3 5
  • Transcription Factor SOX-9 3 4
  • SRY-Box 9 2 3
  • SRA1 2 3
  • Campomelic Dysplasia, Autosomal Sex-Reversal 2
  • SRY (Sex-Determining Region Y)-Box 9 Protein 3
  • SRY (Sex Determining Region Y)-Box 9 2
  • SRY (Sex Determining Region Y)-Box9 3
  • SRY-Related HMG-Box, Gene 9 3
  • SRXY10 3
  • CMPD1 3
  • SRXX2 3
  • CMD1 3
  • SOX9 5

External Ids for SOX9 Gene

Previous HGNC Symbols for SOX9 Gene

  • CMD1
  • CMPD1

Previous GeneCards Identifiers for SOX9 Gene

  • GC17P069873
  • GC17P073111
  • GC17P070581
  • GC17P070714
  • GC17P067628
  • GC17P070117
  • GC17P065510

Summaries for SOX9 Gene

Entrez Gene Summary for SOX9 Gene

  • 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, Jul 2008]

GeneCards Summary for SOX9 Gene

SOX9 (SRY-Box Transcription Factor 9) is a Protein Coding gene. Diseases associated with SOX9 include Campomelic Dysplasia and 46,Xx Sex Reversal 1. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein kinase activity. An important paralog of this gene is SOX10.

UniProtKB/Swiss-Prot Summary for SOX9 Gene

  • Transcription factor that plays a key role in chondrocytes differentiation and skeletal development (PubMed:24038782). Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes COL2A1, COL4A2, COL9A1, COL11A2 and ACAN, SOX5 and SOX6 (PubMed:8640233). Also binds to some promoter regions (By similarity). Plays a central role in successive steps of chondrocyte differentiation (By similarity). Absolutely required for precartilaginous condensation, the first step in chondrogenesis during which skeletal progenitors differentiate into prechondrocytes (By similarity). Together with SOX5 and SOX6, required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes, the second step in chondrogenesis (By similarity). Later, required to direct hypertrophic maturation and block osteoblast differentiation of growth plate chondrocytes: maintains chondrocyte columnar proliferation, delays prehypertrophy and then prevents osteoblastic differentiation of chondrocytes by lowering beta-catenin (CTNNB1) signaling and RUNX2 expression (By similarity). Also required for chondrocyte hypertrophy, both indirectly, by keeping the lineage fate of chondrocytes, and directly, by remaining present in upper hypertrophic cells and transactivating COL10A1 along with MEF2C (By similarity). Low lipid levels are the main nutritional determinant for chondrogenic commitment of skeletal progenitor cells: when lipids levels are low, FOXO (FOXO1 and FOXO3) transcription factors promote expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation (By similarity). Mechanistically, helps, but is not required, to remove epigenetic signatures of transcriptional repression and deposit active promoter and enhancer marks at chondrocyte-specific genes (By similarity). Acts in cooperation with the Hedgehog pathway-dependent GLI (GLI1 and GLI3) transcription factors (By similarity). In addition to cartilage development, also acts as a regulator of proliferation and differentiation in epithelial stem/progenitor cells: involved in the lung epithelium during branching morphogenesis, by balancing proliferation and differentiation and regulating the extracellular matrix (By similarity). Controls epithelial branching during kidney development (By similarity).

Gene Wiki entry for SOX9 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOX9 Gene

Genomics for SOX9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SOX9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SOX9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOX9

Top Transcription factor binding sites by QIAGEN in the SOX9 gene promoter:
  • MyoD
  • Nkx2-5
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox9
  • SRY

Genomic Locations for SOX9 Gene

Latest Assembly
chr17:72,121,020-72,126,416
(GRCh38/hg38)
Size:
5,397 bases
Orientation:
Plus strand

Previous Assembly
chr17:70,117,161-70,122,557
(GRCh37/hg19 by Entrez Gene)
Size:
5,397 bases
Orientation:
Plus strand

chr17:70,117,161-70,122,561
(GRCh37/hg19 by Ensembl)
Size:
5,401 bases
Orientation:
Plus strand

Genomic View for SOX9 Gene

Genes around SOX9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOX9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOX9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOX9 Gene

Proteins for SOX9 Gene

  • Protein details for SOX9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48436-SOX9_HUMAN
    Recommended name:
    Transcription factor SOX-9
    Protein Accession:
    P48436
    Secondary Accessions:
    • Q53Y80

    Protein attributes for SOX9 Gene

    Size:
    509 amino acids
    Molecular mass:
    56137 Da
    Quaternary structure:
    • Homodimer; homodimerization is required for activity (By similarity). Interacts (via C-terminus) with ZNF219; forming a complex that binds to the COL2A1 promoter and activates COL2A1 expression (By similarity). Interacts with DDRGK1 (PubMed:28263186). Interacts with EP300/p300 (PubMed:12732631). Interacts with beta-catenin (CTNNB1); inhibiting CTNNB1 activity by competing with the binding sites of TCF/LEF within CTNNB1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for SOX9 Gene

neXtProt entry for SOX9 Gene

Post-translational modifications for SOX9 Gene

  • Acetylated; acetylation impairs nuclear localization and ability to transactivate expression of target genes. Deacetylated by SIRT1.
  • Phosphorylation at Ser-64 and Ser-211 by PKA increases transcriptional activity and may help delay chondrocyte maturation downstream of PTHLH/PTHrP signaling. Phosphorylation at either Ser-64 or Ser-211 is required for sumoylation, but phosphorylation is not dependent on sumoylation. Phosphorylated on tyrosine residues; tyrosine dephosphorylation by PTPN11/SHP2 blocks SOX9 phosphorylation by PKA and subsequent SUMOylation.
  • Ubiquitinated; ubiquitination leads to proteasomal degradation and is negatively regulated by DDRGK1.
  • Sumoylated; phosphorylation at either Ser-64 or Ser-211 is required for sumoylation. Sumoylation is induced by BMP signaling pathway.
  • Ubiquitination at Lys398
  • Modification sites at PhosphoSitePlus

Other Protein References for SOX9 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for SOX9

No data available for DME Specific Peptides for SOX9 Gene

Domains & Families for SOX9 Gene

Gene Families for SOX9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SOX9 Gene

Suggested Antigen Peptide Sequences for SOX9 Gene

GenScript: Design optimal peptide antigens:
  • Transcription factor SOX-9 (SOX9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P48436

UniProtKB/Swiss-Prot:

SOX9_HUMAN :
  • The transactivation domains TAM and TAC (for transactivation domain in the middle and at the C-terminus, respectively) are required to contact transcriptional coactivators and basal transcriptional machinery components and thereby induce gene transactivation.
Domain:
  • The transactivation domains TAM and TAC (for transactivation domain in the middle and at the C-terminus, respectively) are required to contact transcriptional coactivators and basal transcriptional machinery components and thereby induce gene transactivation.
  • The PQA region (for proline, glutamine and alanine-rich) helps stabilizing SOX9 and facilitates transactivation (PubMed:31194875). It lacks intrinsic transactivation capability (PubMed:31194875).
genes like me logo Genes that share domains with SOX9: view

Function for SOX9 Gene

Molecular function for SOX9 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that plays a key role in chondrocytes differentiation and skeletal development (PubMed:24038782). Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes COL2A1, COL4A2, COL9A1, COL11A2 and ACAN, SOX5 and SOX6 (PubMed:8640233). Also binds to some promoter regions (By similarity). Plays a central role in successive steps of chondrocyte differentiation (By similarity). Absolutely required for precartilaginous condensation, the first step in chondrogenesis during which skeletal progenitors differentiate into prechondrocytes (By similarity). Together with SOX5 and SOX6, required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes, the second step in chondrogenesis (By similarity). Later, required to direct hypertrophic maturation and block osteoblast differentiation of growth plate chondrocytes: maintains chondrocyte columnar proliferation, delays prehypertrophy and then prevents osteoblastic differentiation of chondrocytes by lowering beta-catenin (CTNNB1) signaling and RUNX2 expression (By similarity). Also required for chondrocyte hypertrophy, both indirectly, by keeping the lineage fate of chondrocytes, and directly, by remaining present in upper hypertrophic cells and transactivating COL10A1 along with MEF2C (By similarity). Low lipid levels are the main nutritional determinant for chondrogenic commitment of skeletal progenitor cells: when lipids levels are low, FOXO (FOXO1 and FOXO3) transcription factors promote expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation (By similarity). Mechanistically, helps, but is not required, to remove epigenetic signatures of transcriptional repression and deposit active promoter and enhancer marks at chondrocyte-specific genes (By similarity). Acts in cooperation with the Hedgehog pathway-dependent GLI (GLI1 and GLI3) transcription factors (By similarity). In addition to cartilage development, also acts as a regulator of proliferation and differentiation in epithelial stem/progenitor cells: involved in the lung epithelium during branching morphogenesis, by balancing proliferation and differentiation and regulating the extracellular matrix (By similarity). Controls epithelial branching during kidney development (By similarity).
GENATLAS Biochemistry:
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 activity

Phenotypes From GWAS Catalog for SOX9 Gene

Gene Ontology (GO) - Molecular Function for SOX9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IEA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,IDA 20530484
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IDA,ISA --
GO:0000987 proximal promoter sequence-specific DNA binding IEA,ISS --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA,IDA 20484372
genes like me logo Genes that share ontologies with SOX9: view
genes like me logo Genes that share phenotypes with SOX9: view

Human Phenotype Ontology for SOX9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SOX9 Gene

MGI Knock Outs for SOX9:
  • Sox9 Sox9<tm1.1Gsr>
  • Sox9 Sox9<tm1Crm>
  • Sox9 Sox9<tm2.1Crm>
  • Sox9 Sox9<tm2.1Haak>
  • Sox9 Sox9<tm2.1Tlu>

Transcription Factor Targets for SOX9 Gene

Selected GeneGlobe predicted Target genes for SOX9
Targeted motifs for SOX9 Gene
HOMER Transcription Factor Regulatory Elements motif SOX9
  • Consensus sequence: AGGVNCCTTTGT Submotif: canonical Cell Type: Limb GEO ID: GSE73225

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX9

No data available for Enzyme Numbers (IUBMB) for SOX9 Gene

Localization for SOX9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX9 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 SOX9 gene
Compartment Confidence
nucleus 5
plasma membrane 3
extracellular 3
cytoskeleton 3
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SOX9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA,ISS --
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0032991 protein-containing complex IDA 20530484
genes like me logo Genes that share ontologies with SOX9: view

Pathways & Interactions for SOX9 Gene

genes like me logo Genes that share pathways with SOX9: view

SIGNOR curated interactions for SOX9 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for SOX9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,IDA 29503843
GO:0001501 skeletal system development IMP 8640233
GO:0001502 cartilage condensation IEA,ISS --
GO:0001503 ossification IEA --
GO:0001658 branching involved in ureteric bud morphogenesis IEA --
genes like me logo Genes that share ontologies with SOX9: view

Drugs & Compounds for SOX9 Gene

(11) Drugs for SOX9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(10) Additional Compounds for SOX9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SOX9: view

Transcripts for SOX9 Gene

mRNA/cDNA for SOX9 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOX9

Alternative Splicing Database (ASD) splice patterns (SP) for SOX9 Gene

No ASD Table

Relevant External Links for SOX9 Gene

GeneLoc Exon Structure for
SOX9

Expression for SOX9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SOX9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SOX9 Gene

This gene is overexpressed in Minor Salivary Gland (x4.1).

Protein differential expression in normal tissues from HIPED for SOX9 Gene

This gene is overexpressed in Monocytes (42.6), Fetal testis (16.8), and Testis (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SOX9 Gene



Protein tissue co-expression partners for SOX9 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SOX9

SOURCE GeneReport for Unigene cluster for SOX9 Gene:

Hs.647409

Evidence on tissue expression from TISSUES for SOX9 Gene

  • Nervous system(4.8)
  • Eye(4.5)
  • Intestine(3.1)
  • Kidney(3)
  • Stomach(3)
  • Heart(2.9)
  • Muscle(2.9)
  • Pancreas(2.9)
  • Bone(2.8)
  • Skin(2.7)
  • Liver(2.6)
  • Lung(2.5)
  • Thyroid gland(2.4)
  • Bone marrow(2.4)
  • Blood(2.3)
  • Gall bladder(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX9 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • larynx
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • scalp
  • skull
  • tongue
  • vocal cord
Thorax:
  • breast
  • bronchus
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • kidney
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • hair
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with SOX9: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for SOX9 Gene

Orthologs for SOX9 Gene

This gene was present in the common ancestor of animals.

Orthologs for SOX9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SOX9 29 30
  • 99.87 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SOX9 29 30
  • 93.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SOX9 29 30
  • 91.09 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SOX9 30
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Sox9 29 16 30
  • 89.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sox9 29
  • 89.02 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SOX9 30
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SOX9 29 30
  • 85.58 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SOX9 30
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sox9 29
  • 77.59 (n)
Str.15584 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.1690 29
Zebrafish
(Danio rerio)
Actinopterygii sox9a 29 30
  • 76.81 (n)
OneToMany
sox9b 30
  • 68 (a)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11885 29
Fruit Fly
(Drosophila melanogaster)
Insecta Sox100B 30 31
  • 28 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea sox-4 30
  • 34 (a)
OneToMany
Species where no ortholog for SOX9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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)
  • Wheat (Triticum aestivum)

Evolution for SOX9 Gene

ENSEMBL:
Gene Tree for SOX9 (if available)
TreeFam:
Gene Tree for SOX9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SOX9: view image
Alliance of Genome Resources:
Additional Orthologs for SOX9

Paralogs for SOX9 Gene

(3) SIMAP similar genes for SOX9 Gene using alignment to 12 proteins:

  • SOX9_HUMAN
  • S6CBB2_HUMAN
  • U5XJY7_HUMAN
  • U5XJZ1_HUMAN
  • U5XJZ4_HUMAN
  • U5XK44_HUMAN
  • U5XK50_HUMAN
  • U5XKW5_HUMAN
  • U5XKW9_HUMAN
  • U5XMM4_HUMAN
  • U5XN63_HUMAN
  • U5XN67_HUMAN
genes like me logo Genes that share paralogs with SOX9: view

Variants for SOX9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOX9 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1003041 Uncertain Significance: Camptomelic dysplasia 72,122,883(+) C/T
NM_000346.4(SOX9):c.596C>T (p.Ser199Phe)
MISSENSE
1007550 Uncertain Significance: Camptomelic dysplasia 72,123,952(+) GCCCCCACAGCAGCCG
NM_000346.4(SOX9):c.1101_1121del (p.364AAPPQQP[1])
INFRAME_DELETION
1012429 Pathogenic: not provided 72,123,639(+) AG/A
NM_000346.4(SOX9):c.788del (p.Gly263fs)
FRAMESHIFT
1018605 Uncertain Significance: Camptomelic dysplasia 72,123,644(+) G/A
NM_000346.4(SOX9):c.787G>A (p.Gly263Ser)
MISSENSE
1022506 Uncertain Significance: Camptomelic dysplasia 72,124,367(+) A/G
NM_000346.4(SOX9):c.1510A>G (p.Thr504Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SOX9 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SOX9 Gene

Variant ID Type Subtype PubMed ID
esv3573809 CNV gain 25503493
nsv833530 CNV gain+loss 17160897

Variation tolerance for SOX9 Gene

Residual Variation Intolerance Score: 9.81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.75; 15.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SOX9 Gene

Human Gene Mutation Database (HGMD)
SOX9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOX9
Leiden Open Variation Database (LOVD)
SOX9

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOX9 Gene

Disorders for SOX9 Gene

MalaCards: The human disease database

(80) MalaCards diseases for SOX9 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search SOX9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SOX9_HUMAN
  • Campomelic dysplasia (CMD1) [MIM:114290]: A rare, often lethal, osteochondrodysplasia characterized by congenital bowing and angulation of long bones. Other skeletal defects include unusually small scapula, deformed pelvis and spine, and a missing pair of ribs. Craniofacial and ear defects are common. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Up to two-thirds of affected XY individuals have genital defects or may develop as phenotypic females. {ECO:0000269 PubMed:10446171, ECO:0000269 PubMed:10951468, ECO:0000269 PubMed:11323423, ECO:0000269 PubMed:11754051, ECO:0000269 PubMed:12783851, ECO:0000269 PubMed:19033726, ECO:0000269 PubMed:19921652, ECO:0000269 PubMed:20513132, ECO:0000269 PubMed:24038782, ECO:0000269 PubMed:7485151, ECO:0000269 PubMed:7990924, ECO:0000269 PubMed:8001137, ECO:0000269 PubMed:9002675, ECO:0000269 PubMed:9452059}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • 46,XX sex reversal 2 (SRXX2) [MIM:278850]: A condition in which male gonads develop in a genetic female (female to male sex reversal). {ECO:0000269 PubMed:21208124}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • 46,XY sex reversal 10 (SRXY10) [MIM:616425]: A disorder of sex development. Affected individuals have a 46,XY karyotype, show gonadal dysgenesis with streak gonads, look like normal females at birth, do not develop secondary sexual characteristics at puberty and do not menstruate. {ECO:0000269 PubMed:25604083}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for SOX9

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SOX9: view

No data available for Genatlas for SOX9 Gene

Publications for SOX9 Gene