Seroatlas · Human Serome Atlas

SOX9

Transcription factor SOX-9

Also known as: CMD1, CMPD1, SOX9_HUMAN, SRA1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P48436
Gene
SOX9
Ensembl
ENSG00000125398
Chromosome
17
Canonical length
509 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm
Quaternary structure
Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

509 residues, UniProt reviewed canonical sequence.

>P48436|SOX9
     1  MNLLDPFMKM TDEQEKGLSG APSPTMSEDS AGSPCPSGSG SDTENTRPQE NTFPKGEPDL
    61  KKESEEDKFP VCIREAVSQV LKGYDWTLVP MPVRVNGSSK NKPHVKRPMN AFMVWAQAAR
   121  RKLADQYPHL HNAELSKTLG KLWRLLNESE KRPFVEEAER LRVQHKKDHP DYKYQPRRRK
   181  SVKNGQAEAE EATEQTHISP NAIFKALQAD SPHSSSGMSE VHSPGEHSGQ SQGPPTPPTT
   241  PKTDVQPGKA DLKREGRPLP EGGRQPPIDF RDVDIGELSS DVISNIETFD VNEFDQYLPP
   301  NGHPGVPATH GQVTYTGSYG ISSTAATPAS AGHVWMSKQQ APPPPPQQPP QAPPAPQAPP
   361  QPQAAPPQQP AAPPQQPQAH TLTTLSSEPG QSQRTHIKTE QLSPSHYSEQ QQHSPQQIAY
   421  SPFNLPHYSP SYPPITRSQY DYTDHQNSSS YYSHAAGQGT GLYSTFTYMN PAQRPMYTPI
   481  ADTSGVPSIP QTHSPQHWEQ PVYTQLTRP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOX9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.64
Highest tissue expression
76 nTPM

Expression across tissuesHPA

Tissue

  • salivary gland: 76 nTPM
  • basal ganglia: 48 nTPM
  • amygdala: 44 nTPM
  • cerebral cortex: 40 nTPM
  • stomach: 38 nTPM
  • pancreas: 36 nTPM

Single-cell type

  • epididymal efferent duct absorptive cells: 349 nCPM
  • mucous neck cells: 337 nCPM
  • lacrimal acinar cells: 271 nCPM
  • breast secretory cells: 262 nCPM
  • retinal pigment epithelial cells: 235 nCPM
  • salivary ionocytes: 232 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • medulla oblongata: 143 nTPM
  • midbrain: 140 nTPM
  • spinal cord: 107 nTPM
  • amygdala: 101 nTPM
  • thalamus: 94 nTPM
  • hippocampal formation: 91 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SOX9.

Disease | AllUniProt

Conditions SOX9 is implicated in, by any mechanism.

Disease | GeneticClinVar

143 pathogenic / likely-pathogenic of 539 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on SOX9 was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.17
gnomAD pLI
1
gnomAD missense Z
1.63
DepMap mean gene effect
-0.23
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SOX9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SOX9 as an antibody target. Whether an autoantibody or antibody against SOX9 could matter depends on whether native SOX9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SOX9 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SOX9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SOX9. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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