Human Gene TCF12 (ENST00000438423.6) from GENCODE V44
Description: Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). (from UniProt Q99081) RefSeq Summary (NM_207036): The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000438423.6 Gencode Gene: ENSG00000140262.18 Transcript (Including UTRs) Position: hg38 chr15:56,918,623-57,288,514 Size: 369,892 Total Exon Count: 21 Strand: + Coding Region Position: hg38 chr15:56,919,914-57,282,587 Size: 362,674 Coding Exon Count: 19
ID:HTF4_HUMAN DESCRIPTION: RecName: Full=Transcription factor 12; Short=TCF-12; AltName: Full=Class B basic helix-loop-helix protein 20; Short=bHLHb20; AltName: Full=DNA-binding protein HTF4; AltName: Full=E-box-binding protein; AltName: Full=Transcription factor HTF-4; FUNCTION: Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein. Forms homo- or heterooligomers with myogenin, E12 and ITF2 proteins. Interacts with PTF1A. Interacts with NEUROD2 (By similarity). Interacts with RUNX1T1. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Expressed in several tissues and cell types including skeletal muscle, thymus, and a B-cell line. DOMAIN: the 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/TCF12ID406.html";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q99081
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0005515 protein binding GO:0008134 transcription factor binding GO:0035326 enhancer binding GO:0035497 cAMP response element binding GO:0042803 protein homodimerization activity GO:0043425 bHLH transcription factor binding GO:0046332 SMAD binding GO:0046982 protein heterodimerization activity GO:0046983 protein dimerization activity GO:0070888 E-box binding GO:0071837 HMG box domain binding GO:0044212 transcription regulatory region DNA binding
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0006357 regulation of transcription from RNA polymerase II promoter GO:0006366 transcription from RNA polymerase II promoter GO:0006955 immune response GO:0007275 multicellular organism development GO:0007399 nervous system development GO:0007517 muscle organ development GO:0010628 positive regulation of gene expression GO:0030154 cell differentiation GO:0045666 positive regulation of neuron differentiation GO:0045893 positive regulation of transcription, DNA-templated GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:1902036 regulation of hematopoietic stem cell differentiation
AK302923 - Homo sapiens cDNA FLJ55753 complete cds, highly similar to Transcription factor 12. AL831981 - Homo sapiens mRNA; cDNA DKFZp451F163 (from clone DKFZp451F163); complete cds. AK294617 - Homo sapiens cDNA FLJ52589 partial cds, highly similar to Transcription factor 12. AK312710 - Homo sapiens cDNA, FLJ93110. AK310708 - Homo sapiens cDNA, FLJ17750. BC050556 - Homo sapiens transcription factor 12, mRNA (cDNA clone MGC:57690 IMAGE:5767579), complete cds. BC051769 - Homo sapiens cDNA clone IMAGE:5785263, containing frame-shift errors. M80627 - Human HEB helix-loop-helix protein (HEB) mRNA, complete cds. M83233 - Homo sapiens transcription factor (HTF4) mRNA, complete cds. KJ897643 - Synthetic construct Homo sapiens clone ccsbBroadEn_07037 TCF12 gene, encodes complete protein. CU690724 - Synthetic construct Homo sapiens gateway clone IMAGE:100021475 5' read TCF12 mRNA. AB384761 - Synthetic construct DNA, clone: pF1KB3223, Homo sapiens TCF12 gene for transcription factor 12, complete cds, without stop codon, in Flexi system. AM393720 - Synthetic construct Homo sapiens clone IMAGE:100002215 for hypothetical protein (TCF12 gene). EU446662 - Synthetic construct Homo sapiens clone IMAGE:100070017; IMAGE:100011871; FLH258310.01L transcription factor 12 (HTF4, helix-loop-helix transcription factors 4) (TCF12) gene, encodes complete protein. EU832502 - Synthetic construct Homo sapiens clone HAIB:100067531; DKFZo008F0929 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4) protein (TCF12) gene, encodes complete protein. EU832583 - Synthetic construct Homo sapiens clone HAIB:100067612; DKFZo004F0930 transcription factor 12 (HTF4, helix-loop-helix transcription factors 4) protein (TCF12) gene, encodes complete protein. AF289510 - Homo sapiens TCF12-TEC fusion protein mRNA, partial cds. AK294991 - Homo sapiens cDNA FLJ50514 complete cds, highly similar to Transcription factor 12. AK304007 - Homo sapiens cDNA FLJ54640 complete cds, highly similar to Transcription factor 12. AK308101 - Homo sapiens cDNA, FLJ98049. BX537967 - Homo sapiens mRNA; cDNA DKFZp686K1352 (from clone DKFZp686K1352). AM393573 - Synthetic construct Homo sapiens clone IMAGE:100001907 for hypothetical protein (TCF12 gene). M65209 - Human transcription factor 4, Helix-loop-helix transcription factor 4 (HTF4/TCF12) mRNA, 3' end. AK303028 - Homo sapiens cDNA FLJ51686 complete cds, highly similar to Transcription factor 12. AK302749 - Homo sapiens cDNA FLJ52031 complete cds, highly similar to Transcription factor 12. JD075737 - Sequence 56761 from Patent EP1572962. JD191782 - Sequence 172806 from Patent EP1572962. AK311359 - Homo sapiens cDNA, FLJ18401. AK311709 - Homo sapiens cDNA, FLJ18751. JD182053 - Sequence 163077 from Patent EP1572962. JD260620 - Sequence 241644 from Patent EP1572962. JD363078 - Sequence 344102 from Patent EP1572962. JD248198 - Sequence 229222 from Patent EP1572962. JD448689 - Sequence 429713 from Patent EP1572962. JD037409 - Sequence 18433 from Patent EP1572962. JD499846 - Sequence 480870 from Patent EP1572962. JD038392 - Sequence 19416 from Patent EP1572962. JD551459 - Sequence 532483 from Patent EP1572962. JD301231 - Sequence 282255 from Patent EP1572962. JD150426 - Sequence 131450 from Patent EP1572962. JD141197 - Sequence 122221 from Patent EP1572962. JD054124 - Sequence 35148 from Patent EP1572962. JD358646 - Sequence 339670 from Patent EP1572962. JD557612 - Sequence 538636 from Patent EP1572962. JD162012 - Sequence 143036 from Patent EP1572962. JD303657 - Sequence 284681 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q99081 (Reactome details) participates in the following event(s):
R-HSA-448962 Heterodimerization of E proteins with Myod R-HSA-8956568 RUNX1 binds the core TAL1 complex R-HSA-448963 Interaction of MyoD:E protein with MEF2 R-HSA-8956586 RUNX1-containing TAL1 complex binds the MYB gene enhancer R-HSA-375170 CDO in myogenesis R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs R-HSA-525793 Myogenesis R-HSA-8878171 Transcriptional regulation by RUNX1 R-HSA-1266738 Developmental Biology R-HSA-212436 Generic Transcription Pathway R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)