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Entry version 158 (13 Nov 2019)
Sequence version 1 (01 Mar 2002)
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Protein

Twist-related protein 2

Gene

TWIST2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Binds to the E-box consensus sequence 5'-CANNTG-3' as a heterodimer and inhibits transcriptional activation by MYOD1, MYOG, MEF2A and MEF2C. Also represses expression of proinflammatory cytokines such as TNFA and IL1B. Involved in postnatal glycogen storage and energy metabolism (By similarity). Inhibits the premature or ectopic differentiation of preosteoblast cells during osteogenesis, possibly by changing the internal signal transduction response of osteoblasts to external growth factors.By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein, DNA-binding, Repressor
Biological processDifferentiation, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8878166 Transcriptional regulation by RUNX2

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8WVJ9

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Twist-related protein 2
Alternative name(s):
Class A basic helix-loop-helix protein 39
Short name:
bHLHa39
Dermis-expressed protein 1
Short name:
Dermo-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TWIST2
Synonyms:BHLHA39, DERMO1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Unplaced

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20670 TWIST2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607556 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8WVJ9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Focal facial dermal dysplasia 3, Setleis type (FFDD3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFDD3 is characterized by distinctive bitemporal scar-like depressions resembling forceps marks, and additional facial features, including a coarse and leonine appearance, absent eyelashes on both lids or multiple rows on the upper lids, absent Meibomian glands, slanted eyebrows, chin clefting, and hypo- or hyperpigmentation of the skin. Histologically, the bitemporal lesion is an ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_072927109L → P in FFDD3. 1 Publication1
Ablepharon-macrostomia syndrome (AMS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07467575E → K in AMS; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065049Ensembl.1
Barber-Say syndrome (BBRSAY)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07467475E → A in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065048Ensembl.1
Natural variantiVAR_07467675E → Q in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065049Ensembl.1
Natural variantiVAR_07467778R → RQR in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 Publication1

Keywords - Diseasei

Disease mutation, Ectodermal dysplasia

Organism-specific databases

DisGeNET

More...
DisGeNETi
117581

MalaCards human disease database

More...
MalaCardsi
TWIST2
MIMi200110 phenotype
209885 phenotype
227260 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000233608

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
920 Ablepharon macrostomia syndrome
1231 Barber-Say syndrome
1807 Focal facial dermal dysplasia type III

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134973713

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8WVJ9

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TWIST2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
32699724

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001274891 – 160Twist-related protein 2Add BLAST160

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8WVJ9

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8WVJ9

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8WVJ9

PeptideAtlas

More...
PeptideAtlasi
Q8WVJ9

PRoteomics IDEntifications database

More...
PRIDEi
Q8WVJ9

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
74799

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8WVJ9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8WVJ9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

In the embryo, highly expressed in chondrogenic cells. In embryonic skin, expressed in the undifferentiated mesenchymal layer beneath the epidermis which later develops into the dermis. Expressed in early myeloid cells but not in lymphoid cells in the liver. Expression also detected in the secretory ependymal epithelium of the choroid plexus primordium. In the adult, expressed in secreting glandular tissues and tubules.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000233608 Expressed in 140 organ(s), highest expression level in endocervix

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8WVJ9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8WVJ9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA062870

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein.

Forms a heterodimer with TCF3/E12.

Also interacts with MEF2C (By similarity).

By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
125591, 10 interactors

Protein interaction database and analysis system

More...
IntActi
Q8WVJ9, 9 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000482581

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8WVJ9

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini66 – 117bHLHPROSITE-ProRule annotationAdd BLAST52

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4447 Eukaryota
ENOG4111QFU LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161996

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000261629

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8WVJ9

KEGG Orthology (KO)

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KOi
K09069

Identification of Orthologs from Complete Genome Data

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OMAi
RAHSYEE

Database of Orthologous Groups

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OrthoDBi
719800at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8WVJ9

TreeFam database of animal gene trees

More...
TreeFami
TF315153

Family and domain databases

Conserved Domains Database

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CDDi
cd00083 HLH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
4.10.280.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00010 HLH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00353 HLH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47459 SSF47459, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50888 BHLH, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

Q8WVJ9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEEGSSSPVS PVDSLGTSEE ELERQPKRFG RKRRYSKKSS EDGSPTPGKR
60 70 80 90 100
GKKGSPSAQS FEELQSQRIL ANVRERQRTQ SLNEAFAALR KIIPTLPSDK
110 120 130 140 150
LSKIQTLKLA ARYIDFLYQV LQSDEMDNKM TSCSYVAHER LSYAFSVWRM
160
EGAWSMSASH
Length:160
Mass (Da):18,124
Last modified:March 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i8F44750916940C0A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti31R → L no nucleotide entry (PubMed:11062344).Curated1
Sequence conflicti109L → V no nucleotide entry (PubMed:11062344).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07467475E → A in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065048Ensembl.1
Natural variantiVAR_07467575E → K in AMS; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065049Ensembl.1
Natural variantiVAR_07467675E → Q in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 PublicationCorresponds to variant dbSNP:rs796065049Ensembl.1
Natural variantiVAR_07467778R → RQR in BBRSAY; decreased chromatin binding; the mutant binds to alternative chromatin binding sites compared to wild-type. 1 Publication1
Natural variantiVAR_072927109L → P in FFDD3. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
BC017907 mRNA Translation: AAH17907.1
BC033168 mRNA Translation: AAH33168.1
BC103755 mRNA Translation: AAI03756.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS46558.1

NCBI Reference Sequences

More...
RefSeqi
NP_001258822.1, NM_001271893.3
NP_476527.1, NM_057179.2

Genome annotation databases

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
117581

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:117581

UCSC genome browser

More...
UCSCi
uc010znx.2 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC017907 mRNA Translation: AAH17907.1
BC033168 mRNA Translation: AAH33168.1
BC103755 mRNA Translation: AAI03756.1
CCDSiCCDS46558.1
RefSeqiNP_001258822.1, NM_001271893.3
NP_476527.1, NM_057179.2

3D structure databases

SMRiQ8WVJ9
ModBaseiSearch...

Protein-protein interaction databases

BioGridi125591, 10 interactors
IntActiQ8WVJ9, 9 interactors
STRINGi9606.ENSP00000482581

PTM databases

iPTMnetiQ8WVJ9
PhosphoSitePlusiQ8WVJ9

Polymorphism and mutation databases

BioMutaiTWIST2
DMDMi32699724

Proteomic databases

jPOSTiQ8WVJ9
MassIVEiQ8WVJ9
PaxDbiQ8WVJ9
PeptideAtlasiQ8WVJ9
PRIDEiQ8WVJ9
ProteomicsDBi74799

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
117581

Genome annotation databases

GeneIDi117581
KEGGihsa:117581
UCSCiuc010znx.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
117581
DisGeNETi117581

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TWIST2
HGNCiHGNC:20670 TWIST2
HPAiHPA062870
MalaCardsiTWIST2
MIMi200110 phenotype
209885 phenotype
227260 phenotype
607556 gene
neXtProtiNX_Q8WVJ9
OpenTargetsiENSG00000233608
Orphaneti920 Ablepharon macrostomia syndrome
1231 Barber-Say syndrome
1807 Focal facial dermal dysplasia type III
PharmGKBiPA134973713

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4447 Eukaryota
ENOG4111QFU LUCA
GeneTreeiENSGT00940000161996
HOGENOMiHOG000261629
InParanoidiQ8WVJ9
KOiK09069
OMAiRAHSYEE
OrthoDBi719800at2759
PhylomeDBiQ8WVJ9
TreeFamiTF315153

Enzyme and pathway databases

ReactomeiR-HSA-8878166 Transcriptional regulation by RUNX2
SIGNORiQ8WVJ9

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TWIST2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
117581
PharosiQ8WVJ9

Protein Ontology

More...
PROi
PR:Q8WVJ9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000233608 Expressed in 140 organ(s), highest expression level in endocervix
ExpressionAtlasiQ8WVJ9 baseline and differential
GenevisibleiQ8WVJ9 HS

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTWST2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8WVJ9
Secondary accession number(s): Q3SYL6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2003
Last sequence update: March 1, 2002
Last modified: November 13, 2019
This is version 158 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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