SATB2

Protein identityUniProt · HPA

UniProt accession

Q9UPW6

Gene

SATB2

Ensembl

ENSG00000119042

Chromosome

2

Canonical length

733 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and cognitive disability. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]

Canonical amino-acid sequenceUniProt

733 residues, UniProt reviewed canonical sequence.

>Q9UPW6|SATB2
     1  MERRSESPCL RDSPDRRSGS PDVKGPPPVK VARLEQNGSP MGARGRPNGA VAKAVGGLMI
    61  PVFCVVEQLD GSLEYDNREE HAEFVLVRKD VLFSQLVETA LLALGYSHSS AAQAQGIIKL
   121  GRWNPLPLSY VTDAPDATVA DMLQDVYHVV TLKIQLQSCS KLEDLPAEQW NHATVRNALK
   181  ELLKEMNQST LAKECPLSQS MISSIVNSTY YANVSATKCQ EFGRWYKKYK KIKVERVERE
   241  NLSDYCVLGQ RPMHLPNMNQ LASLGKTNEQ SPHSQIHHST PIRNQVPALQ PIMSPGLLSP
   301  QLSPQLVRQQ IAMAHLINQQ IAVSRLLAHQ HPQAINQQFL NHPPIPRAVK PEPTNSSVEV
   361  SPDIYQQVRD ELKRASVSQA VFARVAFNRT QGLLSEILRK EEDPRTASQS LLVNLRAMQN
   421  FLNLPEVERD RIYQDERERS MNPNVSMVSS ASSSPSSSRT PQAKTSTPTT DLPIKVDGAN
   481  INITAAIYDE IQQEMKRAKV SQALFAKVAA NKSQGWLCEL LRWKENPSPE NRTLWENLCT
   541  IRRFLNLPQH ERDVIYEEES RHHHSERMQH VVQLPPEPVQ VLHRQQSQPA KESSPPREEA
   601  PPPPPPTEDS CAKKPRSRTK ISLEALGILQ SFIHDVGLYP DQEAIHTLSA QLDLPKHTII
   661  KFFQNQRYHV KHHGKLKEHL GSAVDVAEYK DEELLTESEE NDSEEGSEEM YKVEAEEENA
   721  DKSKAAPAEI DQR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SATB2 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)

0.47

Highest tissue expression

31 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SATB2.

Disease | AllUniProt

Conditions SATB2 is implicated in, by any mechanism.

• Cleft palate isolated (CPI) MIM:119540

Disease | GeneticClinVar

204 pathogenic / likely-pathogenic of 917 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Chromosome 2q32-q33 deletion syndrome
• Inborn genetic diseases
• SATB2-related disorder
• Intellectual disability
• SATB2 associated disorder

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)

0.09

gnomAD pLI

1

gnomAD missense Z

4.05

DepMap mean gene effect

0.04

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

• cartilage development
• chromatin remodeling
• embryonic pattern specification
• embryonic skeletal system morphogenesis
• negative regulation of transcription by RNA polymerase II
• neuron migration
• osteoblast development
• positive regulation of transcription by RNA polymerase II
• regulation of transcription by RNA polymerase II
• roof of mouth development

Molecular functions

• chromatin binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• histone deacetylase binding
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding

Cellular components

• chromatin
• histone deacetylase complex
• nuclear matrix
• nucleoplasm
• transcription regulator complex

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• CUT domain
• Homedomain-like superfamily
• Lambda repressor-like, DNA-binding domain superfamily
• SATB, CUT1-like DNA-binding domain
• SATB, ubiquitin-like oligomerisation domain
• SATB, CUTL domain superfamily
• SATB, ULD domain superfamily
• DNA-binding protein SATB1/SATB2
• Homeodomain
• CUT domain
• Ubiquitin-like oligomerisation domain of SATB
• CUT1-like DNA-binding domain of SATB

KeywordsUniProt

• Chromatin regulator
• Chromosomal rearrangement
• Developmental protein
• DNA-binding
• Homeobox
• Intellectual disability
• Isopeptide bond
• Nucleus
• Phosphoprotein
• Repeat
• Repressor
• Transcription
• Transcription regulation
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of SATB2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATF4
• PIAS1
• RUNX2
• HDAC1
• TP63
• TRIM47