ENSG00000137203


Homo sapiens

Features
Gene ID: ENSG00000137203
  
Biological name :TFAP2A
  
Synonyms : P05549 / TFAP2A / transcription factor AP-2 alpha
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p24.3
Gene start: 10393186
Gene end: 10419659
  
Corresponding Affymetrix probe sets: 204653_at (Human Genome U133 Plus 2.0 Array)   204654_s_at (Human Genome U133 Plus 2.0 Array)   210669_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000418541
Ensembl peptide - ENSP00000419696
Ensembl peptide - ENSP00000420568
Ensembl peptide - ENSP00000419961
Ensembl peptide - ENSP00000419823
Ensembl peptide - ENSP00000316516
Ensembl peptide - ENSP00000368928
Ensembl peptide - ENSP00000368933
Ensembl peptide - ENSP00000417495
Ensembl peptide - ENSP00000417735
Ensembl peptide - ENSP00000418391
NCBI entrez gene - 7020     See in Manteia.
OMIM - 107580
RefSeq - XM_017011232
RefSeq - NM_001032280
RefSeq - NM_001042425
RefSeq - NM_003220
RefSeq - XM_006715175
RefSeq - XM_011514833
RefSeq Peptide - NP_003211
RefSeq Peptide - NP_001027451
RefSeq Peptide - NP_001035890
swissprot - C9JXZ2
swissprot - C9J6N8
swissprot - C1K3N0
swissprot - F8WDC8
swissprot - F8WEX2
swissprot - H7C5E5
swissprot - H7C4N4
swissprot - P05549
swissprot - Q96SH1
Ensembl - ENSG00000137203
  
Related genetic diseases (OMIM): 113620 - Branchiooculofacial syndrome, 113620

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
 tfap2aENSDARG00000059279Danio rerio
 TFAP2AENSGALG00000012775Gallus gallus
 Tfap2aENSMUSG00000021359Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q92481 / TFAP2B / transcription factor AP-2 betaENSG0000000819670
Q6VUC0 / TFAP2E / transcription factor AP-2 epsilonENSG0000011681961
Q92754 / TFAP2C / transcription factor AP-2 gammaENSG0000008751061
Q7Z6R9 / TFAP2D / transcription factor AP-2 deltaENSG0000000819749


Protein motifs (from Interpro)
Interpro ID Name
 IPR004979  Transcription factor AP-2
 IPR008121  Transcription factor AP-2 alpha, N-terminal
 IPR013854  Transcription factor AP-2, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II TAS
 biological_processGO:0001822 kidney development IMP
 biological_processGO:0003404 optic vesicle morphogenesis ISS
 biological_processGO:0003409 optic cup structural organization ISS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II TAS
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007605 sensory perception of sound IMP
 biological_processGO:0008285 negative regulation of cell proliferation IDA
 biological_processGO:0010628 positive regulation of gene expression ISS
 biological_processGO:0010842 retina layer formation IEP
 biological_processGO:0010944 negative regulation of transcription by competitive promoter binding IMP
 biological_processGO:0021559 trigeminal nerve development ISS
 biological_processGO:0021623 oculomotor nerve formation ISS
 biological_processGO:0030501 positive regulation of bone mineralization IDA
 biological_processGO:0035115 embryonic forelimb morphogenesis ISS
 biological_processGO:0042472 inner ear morphogenesis IMP
 biological_processGO:0043066 negative regulation of apoptotic process IDA
 biological_processGO:0043525 positive regulation of neuron apoptotic process IDA
 biological_processGO:0045595 regulation of cell differentiation IDA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II TAS
 biological_processGO:0048701 embryonic cranial skeleton morphogenesis ISS
 biological_processGO:0060021 roof of mouth development IMP
 biological_processGO:0060349 bone morphogenesis ISS
 biological_processGO:0061029 eyelid development in camera-type eye ISS
 biological_processGO:0070172 positive regulation of tooth mineralization IDA
 biological_processGO:0071281 cellular response to iron ion IDA
 biological_processGO:2000378 negative regulation of reactive oxygen species metabolic process IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0000976 transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA
 molecular_functionGO:0000982 transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000987 proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding ISS
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0003713 transcription coactivator activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity TAS
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA
 molecular_functionGO:0046983 protein dimerization activity IDA


Pathways (from Reactome)
Pathway description
Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
Negative regulation of activity of TFAP2 (AP-2) family transcription factors
TFAP2 (AP-2) family regulates transcription of other transcription factors
Activation of the TFAP2 (AP-2) family of transcription factors
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
TFAP2 (AP-2) family regulates transcription of cell cycle factors
TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000003 Multicystic kidney "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [HPO:curators]
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 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:0000047 Hypospadias "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators]
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 HP:0000104 Renal agenesis 
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 HP:0000107 Renal cysts 
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 HP:0000126 Hydronephrosis 
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 HP:0000164 Abnormality of the teeth "Any abnormality of the primary (deciduous) or permanent teeth." [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:0000196 Lower lip pit "Depression located on the vermilion of the lower lip, usually paramedian." [pmid:19125428]
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 HP:0000204 Cleft lip "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson]
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 HP:0000218 High palate "Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [pmid:19125428]
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 HP:0000232 Everted lower lip 
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000268 Dolichocephaly 
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 HP:0000272 Malar hypoplasia "Underdeveloped midface region." [HPO:curators]
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 HP:0000316 Hypertelorism 
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000350 Small forehead "The presence of a forehead that is abnormally small." [HPO:curators]
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 HP:0000358 Posteriorly rotated ears "A type of `abnormal location of the ears` (HP:0000357) in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front)." [HPO:probinson]
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 HP:0000368 Low-set, posteriorly rotated ears 
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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:0000396 Overfolded helices "A condition in which the upper edge of the ear is folded over to a greater degree than normal." [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:0000420 Short nasal septum 
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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:0000455 Broad nasal tip 
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 HP:0000470 Short neck 
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 HP:0000480 Retinal coloboma 
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 HP:0000482 Microcornea "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson]
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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:0000506 Telecanthus "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators]
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 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000528 Anophthalmia "Absence of a true eyeball." [HPO:curators]
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 HP:0000545 Myopia 
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 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000579 Nasolacrimal duct obstruction 
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 HP:0000582 Upslanting palpebral fissures 
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 HP:0000612 Iris coloboma "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000691 Microdontia 
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 HP:0000954 Transverse palmar creases "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators]
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 HP:0000987 Scarring 
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 HP:0001028 Hemangiomas "The presence of multiple hemangiomas. A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:curators]
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 HP:0001057 Aplasia cutis congenita "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs." [HPO:curators]
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 HP:0001177 Preaxial polydactyly (hands) "Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits." [HPO:curators]
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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:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
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 HP:0001511 Intrauterine growth retardation 
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 HP:0001611 Nasal speech 
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 HP:0001804 Hypoplastic fingernails "Underdeveloped fingernails." [HPO:curators]
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 HP:0002002 Deep philtrum 
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 HP:0002020 Gastroesophageal reflux 
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 HP:0002021 Pyloric stenosis 
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 HP:0002162 Low posterior hairline 
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 HP:0002167 Neurological speech impairment 
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 HP:0002211 White forelock 
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 HP:0002216 Premature graying of hair 
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 HP:0002335 Agenesis of cerebellar vermis 
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 HP:0002558 Supernumerary nipples 
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 HP:0002808 Kyphosis 
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 HP:0002987 Elbow contractures 
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 HP:0003307 Hyperlordosis 
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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:0004334 Dermal atrophy "Partial or complete wasting (atrophy) of the skin." [HPO:curators]
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 HP:0004464 posterior auricular pit 
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 HP:0004467 Preauricular sinus "The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix." [HPO:curators]
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 HP:0004785 Malrotation of colon 
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 HP:0005217 Duplication of internal organs 
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 HP:0005280 Depressed nasal root and bridge 
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 HP:0005473 Fusion of middle ear ossicles 
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 HP:0006610 Wide intermamillary distance 
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 HP:0008551 Underdeveloped ears 
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 HP:0008559 Hypoplastic superior helix 
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 HP:0008606 Supraauricular sinuses 
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 HP:0008897 Growth retardation, progressive 
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 HP:0009623 Proximally placed thumb "Proximally displaced thumb." [HPO:curators]
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 HP:0009778 Hypoplastic/small thumb 
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 HP:0009794 Branchial anomalies "Congenital developmental defects that arise from the primitive branchial apparatus." [HPO:curators]
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 HP:0009804 Reduced number of teeth 
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 HP:0010517 Ectopic thymus tissue "The presence of ectopic thymic tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend." [HPO:curators]
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 HP:0010566 Hamartoma "A disordered proliferation of mature tissues that is native to the site of origin - eg, exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes - eg, neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma." [HPO:curators]
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 HP:0100268 Upper lip pit "Depression located on the vermilion of the upper lip, usually paramedian." [HPO:sdoelken]
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 HP:0100335 Non-midline cleft lip 
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 HP:0100798 Fingernail dysplasia "An abnormality of the development of the fingernails." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000087510 Q92754 / TFAP2C / transcription factor AP-2 gamma  / reaction / complex
 ENSG00000100811 YY1 / P25490 / YY1 transcription factor  / complex / reaction
 ENSG00000005339 CREBBP / Q92793 / CREB binding protein  / reaction / complex
 ENSG00000137203 P05549 / TFAP2A / transcription factor AP-2 alpha  / reaction / complex
 ENSG00000153885 KCTD15 / Q96SI1 / potassium channel tetramerization domain containing 15  / reaction / complex
 ENSG00000181163 NPM1 / P06748 / nucleophosmin 1  / complex / reaction
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / reaction / complex
 ENSG00000124795 DEK / P35659 / DEK proto-oncogene  / reaction / complex
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / complex / reaction
 ENSG00000134504 KCTD1 / Q719H9 / potassium channel tetramerization domain containing 1  / reaction / complex
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000008196 Q92481 / TFAP2B / transcription factor AP-2 beta  / reaction / complex
 ENSG00000164442 CITED2 / Q99967 / Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2  / complex / reaction
 ENSG00000179862 CITED4 / Q96RK1 / Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4  / reaction / complex






 

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