ENSG00000122691


Homo sapiens

Features
Gene ID: ENSG00000122691
  
Biological name :TWIST1
  
Synonyms : Q15672 / TWIST1 / twist family bHLH transcription factor 1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: p21.1
Gene start: 19020991
Gene end: 19117672
  
Corresponding Affymetrix probe sets: 213943_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000242261
Ensembl peptide - ENSP00000346582
Ensembl peptide - ENSP00000416986
NCBI entrez gene - 7291     See in Manteia.
OMIM - 601622
RefSeq - XM_011515496
RefSeq - NM_000474
RefSeq Peptide - NP_000465
swissprot - H7BY00
swissprot - Q15672
swissprot - H7C4D7
Ensembl - ENSG00000122691
  
Related genetic diseases (OMIM): 101400 - Saethre-Chotzen syndrome with or without eyelid anomalies, 101400
  123100 - Craniosynostosis 1, 123100
  180750 - Robinow-Sorauf syndrome, 180750
  617746 - Sweeney-Cox syndrome, 617746

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 twist1aENSDARG00000030402Danio rerio
 twist1bENSDARG00000076010Danio rerio
 twist2ENSDARG00000078266Danio rerio
 TWIST1ENSGALG00000041640Gallus gallus
 P26687ENSMUSG00000035799Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8WVJ9 / TWIST2 / twist family bHLH transcription factor 2ENSG0000023360865
SCX / Q7RTU7 / scleraxis bHLH transcription factorENSG0000026042826
TAL1 / P17542 / TAL bHLH transcription factor 1, erythroid differentiation factorENSG0000016236725
TCF15 / Q12870 / transcription factor 15ENSG0000012587824
LYL1 / P12980 / LYL1, basic helix-loop-helix family memberENSG0000010490323
HAND2 / P61296 / heart and neural crest derivatives expressed 2ENSG0000016410723
HAND1 / O96004 / heart and neural crest derivatives expressed 1ENSG0000011319621
NHLH1 / Q02575 / nescient helix-loop-helix 1ENSG0000017178619
NHLH2 / Q02577 / nescient helix-loop-helix 2ENSG0000017755119
TAL2 / Q16559 / TAL bHLH transcription factor 2ENSG0000018605117


Protein motifs (from Interpro)
Interpro ID Name
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR015789  Twist-related
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0001503 ossification TAS
 biological_processGO:0001649 osteoblast differentiation IEA
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001764 neuron migration IEA
 biological_processGO:0001843 neural tube closure IEA
 biological_processGO:0003180 aortic valve morphogenesis IEA
 biological_processGO:0003183 mitral valve morphogenesis IEA
 biological_processGO:0003203 endocardial cushion morphogenesis IEA
 biological_processGO:0003253 cardiac neural crest cell migration involved in outflow tract morphogenesis IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007517 muscle organ development IEA
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0010718 positive regulation of epithelial to mesenchymal transition IEA
 biological_processGO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling IMP
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030326 embryonic limb morphogenesis IEA
 biological_processGO:0030500 regulation of bone mineralization IMP
 biological_processGO:0032000 positive regulation of fatty acid beta-oxidation IMP
 biological_processGO:0032720 negative regulation of tumor necrosis factor production IEA
 biological_processGO:0032760 positive regulation of tumor necrosis factor production IMP
 biological_processGO:0033128 negative regulation of histone phosphorylation IMP
 biological_processGO:0035067 negative regulation of histone acetylation IEA
 biological_processGO:0035115 embryonic forelimb morphogenesis IEA
 biological_processGO:0035116 embryonic hindlimb morphogenesis IEA
 biological_processGO:0035137 hindlimb morphogenesis IEA
 biological_processGO:0035359 negative regulation of peroxisome proliferator activated receptor signaling pathway IEA
 biological_processGO:0042473 outer ear morphogenesis TAS
 biological_processGO:0042476 odontogenesis IEA
 biological_processGO:0042733 embryonic digit morphogenesis IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043433 negative regulation of DNA-binding transcription factor activity IEA
 biological_processGO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator IMP
 biological_processGO:0044092 negative regulation of molecular function IEA
 biological_processGO:0045596 negative regulation of cell differentiation IEA
 biological_processGO:0045668 negative regulation of osteoblast differentiation IEA
 biological_processGO:0045766 positive regulation of angiogenesis NAS
 biological_processGO:0045843 negative regulation of striated muscle tissue development IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048511 rhythmic process IEA
 biological_processGO:0048642 negative regulation of skeletal muscle tissue development IEA
 biological_processGO:0048701 embryonic cranial skeleton morphogenesis IEA
 biological_processGO:0048704 embryonic skeletal system morphogenesis IEA
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IEA
 biological_processGO:0060021 roof of mouth development IEA
 biological_processGO:0060348 bone development IEA
 biological_processGO:0060363 cranial suture morphogenesis IEA
 biological_processGO:0060900 embryonic camera-type eye formation IMP
 biological_processGO:0061029 eyelid development in camera-type eye IMP
 biological_processGO:0061309 cardiac neural crest cell development involved in outflow tract morphogenesis IEA
 biological_processGO:0071363 cellular response to growth factor stimulus IEA
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0071639 positive regulation of monocyte chemotactic protein-1 production IMP
 biological_processGO:2000144 positive regulation of DNA-templated transcription, initiation IDA
 biological_processGO:2000147 positive regulation of cell motility IEA
 biological_processGO:2000276 negative regulation of oxidative phosphorylation uncoupler activity IEA
 biological_processGO:2000679 positive regulation of transcription regulatory region DNA binding IMP
 biological_processGO:2000773 negative regulation of cellular senescence IMP
 biological_processGO:2000778 positive regulation of interleukin-6 secretion IMP
 biological_processGO:2000780 negative regulation of double-strand break repair IMP
 biological_processGO:2000793 cell proliferation involved in heart valve development IMP
 biological_processGO:2000802 positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0043425 bHLH transcription factor binding IPI
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0046983 protein dimerization activity IEA
 molecular_functionGO:0070888 E-box binding IEA


Pathways (from Reactome)
Pathway description
Interleukin-4 and Interleukin-13 signaling
Transcriptional regulation by RUNX2
Regulation of RUNX2 expression and activity


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000189 Narrow palate "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [pmid:19125428]
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 HP:0000248 Brachycephaly "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators]
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 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000262 Turricephaly "Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull." [HPO:curators]
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 HP:0000263 Oyxcephaly "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull." [HPO:curators]
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 HP:0000268 Dolichocephaly 
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 HP:0000269 Prominent occiput 
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 HP:0000270 Delayed closure of fontanelles "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:curators]
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 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
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 HP:0000286 Epicanthus "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators]
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 HP:0000294 Low frontal hairline "A condition in which the scalp hair is present at lower than usual areas of the forehead." [HPO:curators]
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 HP:0000316 Hypertelorism 
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 HP:0000324 Facial asymmetry 
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 HP:0000327 Hypoplasia of the maxilla "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson]
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 HP:0000337 Broad forehead "Abnormally large side-to-side distance of the forehead." [HPO:curators]
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 HP:0000348 High forehead "An abnormally increased height of the forehead." [HPO:curators]
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 HP:0000365 Hearing loss 
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000405 Hearing loss, conductive 
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000426 Prominent nasal bridge 
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 HP:0000444 Beaked nose 
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 HP:0000460 Narrow nose 
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000520 Proptosis 
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 HP:0000557 Buphthalmos "Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek bous or ox and ophthalmos or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched." [HPO:curators]
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 HP:0000586 Shallow orbits 
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 HP:0000601 Hypotelorism 
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 HP:0000614 Abnormality of the lacrimal duct 
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 HP:0000643 Blepharospasm "An involuntary recurrent spasm of both eyelids." [HPO:curators]
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 HP:0000646 Amblyopia "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. Ambylopia can result from visual deprivation during the critical period of development of visual abilities which lasts to about the age of 8 years. Thus, ambylopia can result from strabismus, anisometropia, or high hypermetropia in there is a failure to form a focused image in one or both eyes." [HPO:curators]
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 HP:0000648 Optic atrophy 
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 HP:0001123 Visual field defects 
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 HP:0001156 Brachydactyly 
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 HP:0001199 Triphalangeal thumb "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. The thumb normally consists of the first metacarpal and a proximal and distal phalanx. All other digits have an additional middle phalanx. This term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001357 Plagiocephaly "An asymmetric head shape often resulting from premature closure of only one of the coronal sutures." [HPO:curators]
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 HP:0001363 Craniosynostosis "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:curators]
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 HP:0001627 Cardiac abnormality "An abnormality of the `heart` (FMA:7088)." [HPO:probinson]
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 HP:0001770 Toe syndactyly "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0001822 Hallux valgus "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators]
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002076 Migraine 
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 HP:0002342 Mental retardation, moderate "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators]
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 HP:0002516 Increased intracranial pressure 
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 HP:0002644 Abnormality of the pelvis "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002678 Skull asymmetry 
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 HP:0002697 Parietal foramina 
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 HP:0002974 Radioulnar synostosis "An abnormal osseous union (fusion) between the radius and the ulna." [HPO:curators]
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 HP:0003002 Breast cancer 
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 HP:0003189 Long nose 
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 HP:0003307 Hyperlordosis 
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 HP:0003312 Abnormal form of the vertebral bodies 
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 HP:0003828 Variable expressivity 
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 HP:0004209 Clinodactyly of the 5th finger "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004425 Flattened forehead "An abnormally flat form of the forehead." [HPO:curators]
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 HP:0004440 Coronal craniosynostosis 
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 HP:0004443 Lambdoidal craniosynostosis 
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 HP:0005037 Proximal radio-ulnar synostosis "An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna." [HPO:curators]
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0006101 Finger syndactyly "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
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 HP:0007598 Bilateral single palmar creases 
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 HP:0008551 Underdeveloped ears 
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 HP:0008572 External ear malformation 
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 HP:0009701 Synostosis involving the metacarpal bones "Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx)." [HPO:curators]
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 HP:0009738 Abnormal antihelix "An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis." [HPO:curators]
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 HP:0009891 Hypoplasia of the supraorbital ridges "Underdevelopment of the supraorbital ridges." [HPO:curators]
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 HP:0009899 Abnormal prominence of the crus of the ear "Abnormal prominence of the crus of the ear." [HPO:curators]
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 HP:0009951 Partial duplication of the distal phalanx of the 2nd finger "A partial duplication of the distal phalanx of the index finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators]
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 HP:0009968 Partial duplication of the distal phalanx of the 3rd finger "A partial duplication of the distal phalanx of the middle finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators]
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 HP:0010055 Broad hallux 
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 HP:0010066 Partial/complete duplication of the phalanges of the hallux 
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 HP:0010104 Aplasia of the 1st metatarsal 
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 HP:0010535 Sleep apnea "An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep." [HPO:curators]
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 HP:0010807 Open bite "Visible space between the dental arches in occlusion." [pmid:19125428]
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 HP:0011304 Broad thumb "Increased thumb width without increased dorso-ventral dimension." [pmid:19125433]
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 HP:0011323 Cleft of chin "Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin." [DDD:jclayton-smith]
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 HP:0011386 Narrow internal auditory canal "Reduction in diameter of the internal auditory canal." [DDD:dfitzpatrick]
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 HP:0011800 Midface retrusion "Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith]
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 HP:0012368 Flat face "Absence of concavity or convexity of the face when viewed in profile." [pmid:19125436]
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 HP:0030680 Abnormality of cardiovascular system morphology "Any structural anomaly of the heart and great vessels." []
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 HP:0030799 Scaphocephaly "Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis." [HPO:probinson, PMID:16156241, PMID:23960302]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000124813 RUNX2 / Q13950 / runt related transcription factor 2  / reaction / complex






 

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