Pathway candidateNCBI-verifiedprotein-coding

SOX9

SRY-box transcription factor 9

NCBI Gene: 6662 Ensembl GeneCards UniProt: P48436

Pathway candidate — not linked to PFS or PSSD by any record here

SOX9 is in the library because it belongs to the signaling & transcription family. No study, report or commentary in the corpus names it, so a variant in SOX9 is not, by itself, evidence of anything related to post-drug syndromes.

Gene summary

A protein-coding gene on chromosome 17 (cell signaling and transcription factors). 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.

Source: NCBI Gene, accessed 2026-10-07.

Protein reference (UniProt)

Protein: Transcription factor SOX-9
Function (excerpt): Transcription factor that plays a key role in chondrocytes differentiation and skeletal development. 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. 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).
Subcellular location: Nucleus.
Associated conditions: Campomelic dysplasia (CMD1); 46,XX sex reversal 2 (SRXX2); 46,XY sex reversal 10 (SRXY10).

Source: UniProtKB/Swiss-Prot P48436, release 2026_03, licensed CC BY 4.0. This is the protein’s normal biology, not evidence about post-drug syndromes; associated conditions are inherited disorders of the gene, not PFS, PSSD or PRSD.

Why its pathway is in the library

General signaling/transcription machinery; no direct post-drug-syndrome link established for most members — included for completeness of the panel.

Written for the whole signaling & transcription family, not for SOX9 specifically.

Mentioned in 0 corpus records

No corpus record names SOX9 directly yet. It is in the library because it sits in a pathway the corpus tracks (Signaling & transcription).

Also in cell signaling and transcription factors

All 52 genes

Browse by family on the gene families page.

Gene summary

Source: NCBI Gene, accessed 2026-10-07.

Protein reference (UniProt)

Protein: Transcription factor SOX-9
Function (excerpt): Transcription factor that plays a key role in chondrocytes differentiation and skeletal development. 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. 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).
Subcellular location: Nucleus.
Associated conditions: Campomelic dysplasia (CMD1); 46,XX sex reversal 2 (SRXX2); 46,XY sex reversal 10 (SRXY10).