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MGP003082

UniProt Annotations

Entry Information
Gene Nametranscription factor 4
Protein EntryITF2_HUMAN
UniProt IDP15884
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=16; Comment=Additional isoforms seem to exist.; Name=SEF2-1B; Synonyms=B-; IsoId=P15884-1; Sequence=Displayed; Name=SEF2-1A; Synonyms=A+; IsoId=P15884-2; Sequence=VSP_030819, VSP_002111, VSP_002112; Name=SEF2-1D; Synonyms=B+; IsoId=P15884-3; Sequence=VSP_002112; Name=B+delta; IsoId=P15884-4; Sequence=VSP_044340, VSP_002112; Name=B-delta; IsoId=P15884-5; Sequence=VSP_044340; Name=A-; IsoId=P15884-6; Sequence=VSP_044336, VSP_044337, VSP_044340; Name=G-; IsoId=P15884-7; Sequence=VSP_044334, VSP_044338, VSP_044339; Name=H-; IsoId=P15884-8; Sequence=VSP_044335, VSP_057364; Name=D-; IsoId=P15884-9; Sequence=VSP_045149; Name=F-; IsoId=P15884-10; Sequence=VSP_045151; Name=11; IsoId=P15884-11; Sequence=VSP_045150, VSP_044339, VSP_002112; Name=E-; IsoId=P15884-12; Sequence=VSP_047082, VSP_047083; Name=13; IsoId=P15884-13; Sequence=VSP_047081, VSP_002112; Name=C-; IsoId=P15884-14; Sequence=VSP_047081; Name=C-delta; IsoId=P15884-15; Sequence=VSP_047081, VSP_044340; Name=I-; IsoId=P15884-16; Sequence=VSP_054279;
DiseasePitt-Hopkins syndrome (PTHS) [MIM:610954]: A syndrome characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities. {ECO:0000269|PubMed:17436254, ECO:0000269|PubMed:17436255, ECO:0000269|PubMed:18728071, ECO:0000269|PubMed:19235238, ECO:0000269|PubMed:20184619, ECO:0000269|PubMed:22045651}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domainthe 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. {ECO:0000269|PubMed:17467953}.
FunctionTranscription factor that binds to the immunoglobulin enchancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostatin receptor 2 initiator element (SSTR2-INR) to activate transcription (By similarity). Preferentially binds to either 5'-ACANNTGT-3' or 5'-CCANNTGG-3'. {ECO:0000250}.
InteractionP50553:ASCL1; NbExp=7; IntAct=EBI-533224, EBI-957042; P35222:CTNNB1; NbExp=19; IntAct=EBI-533224, EBI-491549; P26233:ctnnb1 (xeno); NbExp=2; IntAct=EBI-533224, EBI-7373758; Q96AC1:FERMT2; NbExp=6; IntAct=EBI-533224, EBI-4399465; Q61473:Sox17 (xeno); NbExp=5; IntAct=EBI-533224, EBI-9106822; Q06831:Sox4 (xeno); NbExp=2; IntAct=EBI-533224, EBI-6262177;
Sequence CautionSequence=AAA60310.1; Type=Miscellaneous discrepancy; Note=Incomplete and probable erroneous sequence.; Evidence={ECO:0000305}; Sequence=AAA60312.1; Type=Miscellaneous discrepancy; Note=Incomplete and probable erroneous sequence.; Evidence={ECO:0000305};
SimilarityContains 1 bHLH (basic helix-loop-helix) domain. {ECO:0000255|PROSITE-ProRule:PRU00981}.
Subcellular LocationNucleus {ECO:0000255|PROSITE- ProRule:PRU00981, ECO:0000269|PubMed:22777675}.
SubunitEfficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers with myogenin. Interacts with HIVEP2. Interacts with NEUROD2 (By similarity). Interacts with AGBL1. {ECO:0000250, ECO:0000269|PubMed:24094747}.
Tissue SpecificityExpressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung. In developing embryonic tissues, expression mostly occurs in the brain.
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