TWIST2

Protein identityUniProt · HPA

UniProt accession

Q8WVJ9

Gene

TWIST2

Ensembl

ENSG00000233608

Chromosome

2

Canonical length

160 aa

Protein class

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

Subcellular location

Nucleoplasm,Nucleoli

OverviewNCBI Gene

The protein encoded by this gene is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]

Canonical amino-acid sequenceUniProt

160 residues, UniProt reviewed canonical sequence.

>Q8WVJ9|TWIST2
     1  MEEGSSSPVS PVDSLGTSEE ELERQPKRFG RKRRYSKKSS EDGSPTPGKR GKKGSPSAQS
    61  FEELQSQRIL ANVRERQRTQ SLNEAFAALR KIIPTLPSDK LSKIQTLKLA ARYIDFLYQV
   121  LQSDEMDNKM TSCSYVAHER LSYAFSVWRM EGAWSMSASH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TWIST2 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)

0.55

Highest tissue expression

82 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TWIST2.

Disease | AllUniProt

Conditions TWIST2 is implicated in, by any mechanism.

• Focal facial dermal dysplasia 3, Setleis type (FFDD3) MIM:227260
• Ablepharon-macrostomia syndrome (AMS) MIM:200110
• Barber-Say syndrome (BBRSAY) MIM:209885

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 41 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Focal facial dermal dysplasia type III
• Barber-Say syndrome
• Ablepharon macrostomia syndrome
• Inborn genetic diseases

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)

1.15

gnomAD pLI

0.56

gnomAD missense Z

2.13

DepMap mean gene effect

0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell differentiation
• developmental process
• negative regulation of DNA-templated transcription
• negative regulation of osteoblast differentiation
• positive regulation of cell migration
• regulation of transcription by RNA polymerase II

Molecular functions

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

Cellular components

• cytoplasm
• nucleolus
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Myc-type, basic helix-loop-helix (bHLH) domain
• Helix-loop-helix DNA-binding domain superfamily
• E-box Binding Transcriptional Regulators
• Helix-loop-helix DNA-binding domain
• Twist-related protein 2, basic helix-loop-helix domain

KeywordsUniProt

• Cytoplasm
• Developmental protein
• Differentiation
• DNA-binding
• Ectodermal dysplasia
• Nucleus
• Repressor
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of TWIST2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MEF2C
• CCM2
• TCF12
• TCF4