InnateDB Protein
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IDBP-13573.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TCF12
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Protein Name
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transcription factor 12
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Synonyms
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bHLHb20; CRS3; HEB; HsT17266; HTF4;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000342459
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InnateDB Gene
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IDBG-13567 (TCF12)
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Protein Structure
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Function |
Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3').
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Subcellular Localization |
Nucleus.
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Disease Associations |
Craniosynostosis 3 (CRS3) [MIM:615314]: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269PubMed:23354436}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in several tissues and cell types including skeletal muscle, thymus, and a B-cell line.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 41 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.
Experimentally validated |
Total |
41
[view]
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Protein-Protein |
37
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
1
[view]
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
13 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR011598
Myc-type, basic helix-loop-helix (bHLH) domain
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PFAM |
PF00010
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PRINTS |
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PIRSF |
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SMART |
SM00353
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TIGRFAMs |
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Modification |
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SwissProt |
Q99081
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PhosphoSite |
PhosphoSite-Q99081
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TrEMBL |
Q9NQY7
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UniProt Splice Variant |
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Entrez Gene |
6938
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UniGene |
Hs.682266
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RefSeq |
NP_996923
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HUGO |
HGNC:11623
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OMIM |
600480
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CCDS |
CCDS42042
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HPRD |
02725
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IMGT |
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EMBL |
AC010999
AC016525
AC090511
AC090532
AF271611
AF271612
AF271613
AF271614
AF271616
AF271617
AL831981
BC050556
BK001049
BX537967
CH471082
M65209
M80627
M83233
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GenPept |
AAA58632
AAB62389
AAC37571
AAF82571
AAF82572
AAF82573
AAF82575
AAF82576
AAF82578
AAH50556
CAD89914
CAD97931
DAA01129
EAW77512
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