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Aliases for TWIST2 Gene

Aliases for TWIST2 Gene

  • Twist Family BHLH Transcription Factor 2 2 3 5
  • Twist Basic Helix-Loop-Helix Transcription Factor 2 2 3
  • Class A Basic Helix-Loop-Helix Protein 39 3 4
  • Dermis-Expressed Protein 1 3 4
  • BHLHa39 3 4
  • DERMO1 3 4
  • Twist-Related BHLH Protein Dermo1 3
  • Twist Homolog 2 (Drosophila) 2
  • Twist-Related Protein 2 3
  • Twist Homolog 2 3
  • Dermo-1 4
  • BBRSAY 3
  • SETLSS 3
  • FFDD3 3
  • AMS 3

External Ids for TWIST2 Gene

Previous GeneCards Identifiers for TWIST2 Gene

  • GC02U900015
  • GC07M018899
  • GC07M018929
  • GC02P239496
  • GC02P239757
  • GC02P231547

Summaries for TWIST2 Gene

Entrez Gene Summary for TWIST2 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]

GeneCards Summary for TWIST2 Gene

TWIST2 (Twist Family BHLH Transcription Factor 2) is a Protein Coding gene. Diseases associated with TWIST2 include Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome. Among its related pathways are Proteoglycans in cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein domain specific binding. An important paralog of this gene is TWIST1.

UniProtKB/Swiss-Prot for TWIST2 Gene

  • 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.

Gene Wiki entry for TWIST2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TWIST2 Gene

Genomics for TWIST2 Gene

Regulatory Elements for TWIST2 Gene

Enhancers for TWIST2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F238234 0.5 ENCODE 12.9 -613.3 -613339 0.5 ELF3 TBP HDAC1 MLX ZFP64 ZNF76 ARID4B DEAF1 KLF17 DMAP1 ENSG00000225057 TWIST2 ERFE PIR41220 LOC101927958
GH02F238231 0.2 ENCODE 12.9 -616.3 -616260 0.2 TBP HDAC1 CBX3 SUZ12 DEAF1 MAX POLR2A ZNF143 E2F6 CREM ENSG00000225057 TWIST2 LOC151174 PIR62536
GH02F238726 1 FANTOM5 Ensembl ENCODE 10.1 -119.2 -119232 4.2 JUND SCRT2 TWIST2 ENSG00000224252 LOC105373963
GH02F238911 0.5 ENCODE 5.7 +66.1 66083 4.1 CTCF JUND HDAC2 GLIS1 FOS MNT RAD21 TWIST2 LINC01940 GC02M238886
GH02F238845 1.7 FANTOM5 Ensembl ENCODE 5.6 +12.9 12917 30.9 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YBX1 FOS ZNF263 SP5 ILKAP TWIST2 LOC151174 GC02M238886
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TWIST2 on UCSC Golden Path with GeneCards custom track

Promoters for TWIST2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000679351 966 3401 TBP SIN3A FEZF1 BMI1 YBX1 FOS CEBPB MAFF GLIS1 ZNF524

Genomic Location for TWIST2 Gene

Chromosome:
2
Start:
238,847,934 bp from pter
End:
238,910,548 bp from pter
Size:
62,615 bases
Orientation:
Plus strand

Genomic View for TWIST2 Gene

Genes around TWIST2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TWIST2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TWIST2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TWIST2 Gene

Proteins for TWIST2 Gene

  • Protein details for TWIST2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVJ9-TWST2_HUMAN
    Recommended name:
    Twist-related protein 2
    Protein Accession:
    Q8WVJ9
    Secondary Accessions:
    • Q3SYL6

    Protein attributes for TWIST2 Gene

    Size:
    160 amino acids
    Molecular mass:
    18124 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3/E12. Also interacts with MEF2C (By similarity).

neXtProt entry for TWIST2 Gene

Post-translational modifications for TWIST2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TWIST2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TWIST2 Gene

Domains & Families for TWIST2 Gene

Gene Families for TWIST2 Gene

Protein Domains for TWIST2 Gene

Suggested Antigen Peptide Sequences for TWIST2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8WVJ9

UniProtKB/Swiss-Prot:

TWST2_HUMAN :
  • Contains 1 bHLH (basic helix-loop-helix) domain.
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.
genes like me logo Genes that share domains with TWIST2: view

Function for TWIST2 Gene

Molecular function for TWIST2 Gene

UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for TWIST2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 18598946
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with TWIST2: view
genes like me logo Genes that share phenotypes with TWIST2: view

Human Phenotype Ontology for TWIST2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TWIST2 Gene

MGI Knock Outs for TWIST2:

Animal Model Products

miRNA for TWIST2 Gene

miRTarBase miRNAs that target TWIST2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TWIST2 Gene

Localization for TWIST2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TWIST2 Gene

Nucleus. Cytoplasm. Note=Mainly nuclear during embryonic development. Cytoplasmic in adult tissues.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TWIST2 Gene COMPARTMENTS Subcellular localization image for TWIST2 gene
Compartment Confidence
nucleus 5
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for TWIST2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11062344
GO:0005737 cytoplasm IEA,IDA 11062344
genes like me logo Genes that share ontologies with TWIST2: view

Pathways & Interactions for TWIST2 Gene

SuperPathways for TWIST2 Gene

SuperPathway Contained pathways
1 Proteoglycans in cancer
genes like me logo Genes that share pathways with TWIST2: view

Pathways by source for TWIST2 Gene

1 KEGG pathway for TWIST2 Gene

Gene Ontology (GO) - Biological Process for TWIST2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
GO:0043066 negative regulation of apoptotic process IEA --
genes like me logo Genes that share ontologies with TWIST2: view

No data available for SIGNOR curated interactions for TWIST2 Gene

Transcripts for TWIST2 Gene

mRNA/cDNA for TWIST2 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TWIST2 Gene

Twist basic helix-loop-helix transcription factor 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TWIST2 Gene

No ASD Table

Relevant External Links for TWIST2 Gene

GeneLoc Exon Structure for
TWIST2
ECgene alternative splicing isoforms for
TWIST2

Expression for TWIST2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TWIST2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TWIST2 Gene

This gene is overexpressed in Cervix - Endocervix (x4.1).

Protein differential expression in normal tissues from HIPED for TWIST2 Gene

This gene is overexpressed in Serum (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TWIST2 Gene



Protein tissue co-expression partners for TWIST2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TWIST2 Gene:

TWIST2

SOURCE GeneReport for Unigene cluster for TWIST2 Gene:

Hs.422585

mRNA Expression by UniProt/SwissProt for TWIST2 Gene:

Q8WVJ9-TWST2_HUMAN
Tissue specificity: 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.
genes like me logo Genes that share expression patterns with TWIST2: view

Primer Products

Orthologs for TWIST2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TWIST2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TWIST2 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia TWIST2 34 35
  • 99.37 (n)
cow
(Bos Taurus)
Mammalia TWIST2 34 35
  • 98.12 (n)
oppossum
(Monodelphis domestica)
Mammalia TWIST2 35
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Twist2 34
  • 97.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TWIST2 35
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Twist2 34 16 35
  • 96.67 (n)
chicken
(Gallus gallus)
Aves CDERMO-1 35
  • 96 (a)
OneToOne
TWIST2 34
  • 80.83 (n)
lizard
(Anolis carolinensis)
Reptilia TWIST2 35
  • 94 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii twist2 34 35
  • 79.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta twi 35
  • 17 (a)
OneToMany
Species where no ortholog for TWIST2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TWIST2 Gene

ENSEMBL:
Gene Tree for TWIST2 (if available)
TreeFam:
Gene Tree for TWIST2 (if available)

Paralogs for TWIST2 Gene

Paralogs for TWIST2 Gene

(6) SIMAP similar genes for TWIST2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TWIST2: view

Variants for TWIST2 Gene

Sequence variations from dbSNP and Humsavar for TWIST2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs796065048 Barber-Say syndrome (BBRSAY) [MIM:209885], Pathogenic 238,848,439(+) GCGCG(A/C)GCGCC upstream-variant-2KB, reference, missense
rs796065049 Ablepharon-macrostomia syndrome (AMS) [MIM:200110], Barber-Say syndrome (BBRSAY) [MIM:209885], Pathogenic 238,848,438(+) TGCGC(A/C/G)AGCGC upstream-variant-2KB, reference, missense
VAR_072927 Focal facial dermal dysplasia 3, Setleis type (FFDD3) [MIM:227260]
rs387906973 Pathogenic 238,848,570(+) TCTAC(C/T)AGGTC upstream-variant-2KB, reference, stop-gained
rs387906974 Pathogenic 238,848,408(+) AGCTG(C/T)AGAGC upstream-variant-2KB, reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for TWIST2 Gene

Variant ID Type Subtype PubMed ID
esv2330809 CNV deletion 18987734
esv2671116 CNV deletion 23128226
esv2721788 CNV deletion 23290073
esv3594773 CNV gain 21293372
nsv1077382 CNV duplication 25765185
nsv1128824 CNV duplication 24896259
nsv1150738 CNV duplication 26484159

Variation tolerance for TWIST2 Gene

Gene Damage Index Score: 0.19; 4.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TWIST2 Gene

Human Gene Mutation Database (HGMD)
TWIST2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TWIST2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TWIST2 Gene

Disorders for TWIST2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for TWIST2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
barber-say syndrome
  • barber say syndrome
ablepharon-macrostomia syndrome
  • ablepharon macrostomia syndrome
focal facial dermal dysplasia 3, setleis type
  • facial ectodermal dysplasia
focal facial dermal dysplasia 3
  • focal facial dermal dysplasia 3, setleis type
focal facial dermal dysplasia
  • focal dermal hypoplasia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TWST2_HUMAN
  • Ablepharon-macrostomia syndrome (AMS) [MIM:200110]: A 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. {ECO:0000269 PubMed:26119818}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Barber-Say syndrome (BBRSAY) [MIM:209885]: A rare ectodermal dysplasia characterized by ectropion, macrostomia, ear abnormalities, broad nasal bridge, bulbous nose, redundant skin, hypertrichosis, dental abnormalities, and variable other features. {ECO:0000269 PubMed:26119818}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Focal facial dermal dysplasia 3, Setleis type (FFDD3) [MIM:227260]: A 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. {ECO:0000269 PubMed:20691403, ECO:0000269 PubMed:25410422}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TWIST2

Genetic Association Database (GAD)
TWIST2
Human Genome Epidemiology (HuGE) Navigator
TWIST2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TWIST2
genes like me logo Genes that share disorders with TWIST2: view

No data available for Genatlas for TWIST2 Gene

Publications for TWIST2 Gene

  1. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. (PMID: 26119818) Marchegiani S. … Markello T.C. (Am. J. Hum. Genet. 2015) 3 4 64
  2. Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation. (PMID: 25410422) Rosti R.O. … Desnick R.J. (Clin. Genet. 2014) 3 4 64
  3. Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. (PMID: 20691403) Tukel T. … Desnick R.J. (Am. J. Hum. Genet. 2010) 3 4 64
  4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges L.M. … Zmuda J.M. (J. Bone Miner. Res. 2009) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for TWIST2 Gene

Sources for TWIST2 Gene

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