ENSG00000233608


Homo sapiens

Features
Gene ID: ENSG00000233608
  
Biological name :TWIST2
  
Synonyms : Q8WVJ9 / TWIST2 / twist family bHLH transcription factor 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q37.3
Gene start: 238848032
Gene end: 238910543
  
Corresponding Affymetrix probe sets: 1554163_at (Human Genome U133 Plus 2.0 Array)   229404_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000482581
Ensembl peptide - ENSP00000405176
NCBI entrez gene - 117581     See in Manteia.
OMIM - 607556
RefSeq - NM_001271893
RefSeq - NM_057179
RefSeq Peptide - NP_001258822
RefSeq Peptide - NP_476527
swissprot - Q8WVJ9
swissprot - A0A024R4D4
Ensembl - ENSG00000233608
  
Related genetic diseases (OMIM): 200110 - Ablepharon-macrostomia syndrome, 200110
  209885 - Barber-Say syndrome, 209885
  227260 - Focal facial dermal dysplasia 3, Setleis type, 227260

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
 Twist2ENSMUSG00000007805Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q15672 / TWIST1 / twist family bHLH transcription factor 1ENSG0000012269183
SCX / Q7RTU7 / scleraxis bHLH transcription factorENSG0000026042829
TAL1 / P17542 / TAL bHLH transcription factor 1, erythroid differentiation factorENSG0000016236729
TCF15 / Q12870 / transcription factor 15ENSG0000012587829
LYL1 / P12980 / LYL1, basic helix-loop-helix family memberENSG0000010490328
HAND2 / P61296 / heart and neural crest derivatives expressed 2ENSG0000016410726
HAND1 / O96004 / heart and neural crest derivatives expressed 1ENSG0000011319623
NHLH1 / Q02575 / nescient helix-loop-helix 1ENSG0000017178623
NHLH2 / Q02577 / nescient helix-loop-helix 2ENSG0000017755123
TAL2 / Q16559 / TAL bHLH transcription factor 2ENSG0000018605122


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


Gene Ontology (GO)
TypeGO IDTermEv.Code
 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:0030154 cell differentiation IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0045668 negative regulation of osteoblast differentiation IDA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046983 protein dimerization activity IEA


Pathways (from Reactome)
Pathway description
Transcriptional regulation by RUNX2


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:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000032 Abnormality of male external genitalia 
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 HP:0000049 Shawl scrotum "A condition in which the upper scrotal skin rises over the base of the penis." [HPO:curators]
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 HP:0000055 Abnormality of female external genitalia 
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 HP:0000062 Ambiguous genitalia 
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 HP:0000153 Abnormality of the mouth "An abnormality of the `mouth` (FMA:49184)." [HPO:probinson]
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 HP:0000154 Wide mouth "Abnormally wide mouth." [HPO:curators]
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 HP:0000188 Short upper lip 
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 HP:0000233 Thin vermillion border 
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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:0000303 Mandibular prognathia "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators]
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 HP:0000316 Hypertelorism 
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 HP:0000322 Short philtrum 
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 HP:0000327 Hypoplasia of the maxilla "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [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:0000377 Abnormal form of ears "Abnormal form of the out part of the ear (also referred to as the auricle or pinna)." [HPO:curators]
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 HP:0000413 External auditory canal atresia "Absence or failure to form of the external auditory canal." [HPO:curators]
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 HP:0000414 Bulbous nose 
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 HP:0000430 Hypoplastic nasal alae "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [pmid:19152422]
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 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
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 HP:0000457 Flat nose 
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 HP:0000463 Nares, anteverted "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422]
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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:0000494 Downward slanting palpebral fissures 
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 HP:0000505 Impaired vision 
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 HP:0000506 Telecanthus "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators]
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 HP:0000535 Sparse eyebrows 
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 HP:0000545 Myopia 
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 HP:0000561 Absent eyelashes "Lack of eyelashes." [HPO:curators]
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 HP:0000629 Periorbital fullness 
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 HP:0000632 Lacrimation abnormality 
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 HP:0000656 Ectropion "An abnormal turning outward of the lower eyelid." [HPO:sdoelken]
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 HP:0000684 Delayed dentition "Delayed eruption of teeth." [HPO:curators]
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 HP:0000691 Microdontia 
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 HP:0000750 Impaired language development 
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 HP:0000958 Dry skin 
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 HP:0000963 Thin skin 
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 HP:0000968 Ectodermal dysplasia 
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 HP:0000974 Hyperextensible skin 
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 HP:0000998 Hypertrichosis "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators]
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 HP:0001000 Abnormality of skin pigmentation 
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 HP:0001053 Hypopigmented skin patches 
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 HP:0001126 Cryptophthalmos "Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity." [HPO:curators]
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 HP:0001249 Mental retardation 
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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:0001508 Failure to thrive 
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 HP:0001510 Growth retardation 
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 HP:0001537 Umbilical hernia "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators]
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 HP:0001539 Omphalocele 
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 HP:0001582 Loose, redundant skin 
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 HP:0001762 Talipes equinovarus "Also called clubfoot typically has 4 main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus." [HPO:curators]
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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:0002023 Anal atresia "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators]
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 HP:0002213 Fine hair 
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 HP:0002223 Absent eyebrows 
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 HP:0002230 Generalized hirsutism "Abnormally increased hair growth over much of the entire body." [HPO:curators]
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 HP:0002553 Arched eyebrows 
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 HP:0002557 Hypoplastic nipples 
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 HP:0002705 High, narrow palate "The presence of a high and narrow palate." [HPO:curators]
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 HP:0002714 Downturned corners of mouth "A morphological `abnormality of the mouth` (HP:0000153) in which the `angle of the mouth` (FMA:77269) is downturned." [HPO:probinson]
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 HP:0002933 Ventral hernia "Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abnominal wall." [HPO:curators]
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 HP:0003187 Breast hypoplasia 
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 HP:0004334 Dermal atrophy "Partial or complete wasting (atrophy) of the skin." [HPO:curators]
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 HP:0005105 Abnormal nasal morphology 
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0005338 Sparse lateral eyebrows 
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 HP:0006709 Aplasia/Hypoplasia of the nipples 
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 HP:0007392 Excessive wrinkled skin 
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 HP:0007495 Prematurely aged appearance 
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 HP:0007565 Multiple cafe-au-lait spots 
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 HP:0007776 Partial absence of lower eyelashes 
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 HP:0007957 Variable degree of corneal opacities 
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 HP:0008065 Aplasia/Hypoplasia of the skin 
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 HP:0008070 Sparse hair 
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 HP:0008496 Multiple rows of eyelashes 
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 HP:0008509 Aged leonine appearance 
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 HP:0008551 Underdeveloped ears 
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 HP:0008736 Hypoplasia of penis 
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 HP:0009743 Distichiasis "Distichiasis refers to ouble rows of eyelashes." [HPO:curators]
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 HP:0010049 Hypoplastic/short metacarpal bones 
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 HP:0010669 Hypoplasia of the zygomatic bone "Underdevelopment of the `zygomatic bone` (FMA:52747)." [HPO:probinson]
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 HP:0010720 Abnormal hair growth pattern "An abnormality of the distribution of hair growth." [HPO:probinson]
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 HP:0010751 Chin dimple "A persistent midline depression of the skin over the fat pad of the chin." [pmid:19125436]
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 HP:0010935 Abnormality of the upper urinary tract "An abnormality of the `upper urinary tract` (FMA:45658)." [HPO:probinson]
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 HP:0011224 Ablepharon "Absent `eyelids` (FMA:75178)." [pmid:19125427]
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 HP:0011267 Microtia, third degree "Presence of some auricular structures, but none of these structures conform to recognized ear components." [pmid:19152421]
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 HP:0100490 Camptodactyly (hands) "Contractures of one ore more joints of the fingers." [HPO:sdoelken]
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 HP:0100781 Abnormality of the sacroiliac joint 
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 HP:0100783 Breast aplasia 
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 HP:0100840 Aplasia/Hypoplasia of the eyebrow "Absence or underdevelopment of the eyebrow." [HPO:probinson]
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 HP:0200020 Corneal erosions "Erosions or Abbrasions of the cornea s outermost layer of epithelial cells." [HPO:sdoelken]
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 HP:0200102 Sparse/absent eyelashes 
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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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