SOX6

Protein identityUniProt · HPA

UniProt accession

P35712

Gene

SOX6

Ensembl

ENSG00000110693

Chromosome

11

Canonical length

828 aa

Protein class

Disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

828 residues, UniProt reviewed canonical sequence.

>P35712|SOX6
     1  MSSKQATSPF ACAADGEDAM TQDLTSREKE EGSDQHVASH LPLHPIMHNK PHSEELPTLV
    61  STIQQDADWD SVLSSQQRME SENNKLCSLY SFRNTSTSPH KPDEGSRDRE IMTSVTFGTP
   121  ERRKGSLADV VDTLKQKKLE EMTRTEQEDS SCMEKLLSKD WKEKMERLNT SELLGEIKGT
   181  PESLAEKERQ LSTMITQLIS LREQLLAAHD EQKKLAASQI EKQRQQMDLA RQQQEQIARQ
   241  QQQLLQQQHK INLLQQQIQV QGHMPPLMIP IFPHDQRTLA AAAAAQQGFL FPPGITYKPG
   301  DNYPVQFIPS TMAAAAASGL SPLQLQKGHV SHPQINQRLK GLSDRFGRNL DTFEHGGGHS
   361  YNHKQIEQLY AAQLASMQVS PGAKMPSTPQ PPNTAGTVSP TGIKNEKRGT SPVTQVKDEA
   421  AAQPLNLSSR PKTAEPVKSP TSPTQNLFPA SKTSPVNLPN KSSIPSPIGG SLGRGSSLDI
   481  LSSLNSPALF GDQDTVMKAI QEARKMREQI QREQQQQQPH GVDGKLSSIN NMGLNSCRNE
   541  KERTRFENLG PQLTGKSNED GKLGPGVIDL TRPEDAEGSK AMNGSAAKLQ QYYCWPTGGA
   601  TVAEARVYRD ARGRASSEPH IKRPMNAFMV WAKDERRKIL QAFPDMHNSN ISKILGSRWK
   661  SMSNQEKQPY YEEQARLSKI HLEKYPNYKY KPRPKRTCIV DGKKLRIGEY KQLMRSRRQE
   721  MRQFFTVGQQ PQIPITTGTG VVYPGAITMA TTTPSPQMTS DCSSTSASPE PSLPVIQSTY
   781  GMKTDGGSLA GNEMINGEDE MEMYDDYEDD PKSDYSSENE APEAVSAN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOX6 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

25 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SOX6.

Disease | AllUniProt

Conditions SOX6 is implicated in, by any mechanism.

• Tolchin-Le Caignec syndrome (TOLCAS) MIM:618971

Disease | GeneticClinVar

37 pathogenic / likely-pathogenic of 304 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Tolchin-Le Caignec syndrome
• Inborn genetic diseases
• Neurodevelopmental disorder
• Intellectual disability
• Craniosynostosis syndrome

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)

0.22

gnomAD pLI

1

gnomAD missense Z

1.93

DepMap mean gene effect

0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• brain development
• cartilage condensation
• cartilage development
• cell fate commitment
• cellular response to transforming growth factor beta stimulus
• central nervous system development
• chondrocyte differentiation
• muscle organ development
• negative regulation of cardiac muscle cell differentiation
• positive regulation of cartilage development
• positive regulation of chondrocyte differentiation
• positive regulation of mesenchymal stem cell differentiation
• regulation of DNA-templated transcription
• regulation of transcription by RNA polymerase II
• spinal cord oligodendrocyte cell differentiation

Molecular functions

• DNA binding
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity
• protein homodimerization activity
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• transcription cis-regulatory region binding

Cellular components

• chromatin
• cytoplasm
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• High mobility group box domain
• High mobility group box domain superfamily
• SOX/SOX-like transcription factors
• HMG (high mobility group) box

KeywordsUniProt

• Activator
• Autism spectrum disorder
• Coiled coil
• Cytoplasm
• Developmental protein
• Differentiation
• DNA-binding
• Intellectual disability
• Isopeptide bond
• Nucleus
• Phosphoprotein
• Repressor
• Transcription
• Transcription regulation
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of SOX6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DAZAP2
• NFIA
• NFIB
• NFIC