Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6938
Gene name Gene Name - the full gene name approved by the HGNC.
Transcription factor 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TCF12
Synonyms (NCBI Gene) Gene synonyms aliases
CRS3, HEB, HH26, HTF4, HsT17266, TCF-12, bHLHb20, p64
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CRS3, HH26
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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-c
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs398122381 C>G Pathogenic Coding sequence variant, intron variant, stop gained
rs554037047 C>A,T Likely-pathogenic Intron variant, coding sequence variant, missense variant, stop gained
rs758543580 C>T Pathogenic Stop gained, coding sequence variant
rs878853094 G>A Likely-pathogenic Intron variant
rs886037636 C>G Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT005845 hsa-miR-204-5p Luciferase reporter assay, Microarray, qRT-PCR 21282569
MIRT005845 hsa-miR-204-5p Immunofluorescence, Microarray, qRT-PCR, Western blot 22523078
MIRT006464 hsa-miR-211-5p Immunofluorescence, Microarray, qRT-PCR, Western blot 22523078
MIRT005845 hsa-miR-204-5p Immunofluorescence, Microarray, qRT-PCR, Western blot 22523078
MIRT006464 hsa-miR-211-5p Immunofluorescence, Microarray, qRT-PCR, Western blot 22523078
Transcription factors
Transcription factor Regulation Reference
CBFA2T3 Unknown 18456661
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 21828274
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 11802795
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 11802795
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600480 11623 ENSG00000140262
Protein
UniProt ID Q99081
Protein name Transcription factor 12 (TCF-12) (Class B basic helix-loop-helix protein 20) (bHLHb20) (DNA-binding protein HTF4) (E-box-binding protein) (Transcription factor HTF-4)
Protein function Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3') (By similarity). May be involved in the functional network that regulates the development of the Gn
PDB 2KNH , 4JOL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 578 631 Helix-loop-helix DNA-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in several tissues and cell types including skeletal muscle, thymus, and a B-cell line.
Sequence
MNPQQQRMAAIGTDKELSDLLDFSAMFSPPVNSGKTRPTTLGSSQFSGSGIDERGGTTSW
GTSGQPSPSYDSSRGFTDSPHYSDHLNDSRLGAHEGLSPTPFMNSNLMGKTSERGSFSLY
SRDTGLPGCQSSLLRQDLGLGSPAQLSSSGKPGTAYYSFSATSSRRRPLHDSAALDPLQA
KKVRKVPPGLPSSVYAPSPNSDDFNRESPSYPSPKPPTSMFASTFFMQDGTHNSSDLWSS
SNGMSQPGFGGILGTSTSHMSQSSSYGNLHSHDRLSYPPHSVSPTDINTSLPPMSSFHRG
STSSSPYVAASHTPPINGSDSILGTRGNAAGSSQTGDALGKALASIYSPDHTSSSFPSNP
STPVGSPSPLTGTSQWPRPGGQAPSSPSYENSLHSLQSRMEDRLDRLDDAIHVLRNHAVG
PSTSLPAGHSDIHSLLGPSHNAPIGSLNSNYGGSSLVASSRSASMVGTHREDSVSLNGNH
SVLSSTVTTSSTDLNHKTQENYRGGLQSQSGTVVTTEIKTENKEKDENLHEPPSSDDMKS
DDESSQKDIKVSSRGRTSSTNEDEDLNPEQKIEREKERRMANNARERLRVRDINEAFKEL
GRMCQLHLKSEKPQTKLLILHQAVAVILSLE
QQVRERNLNPKAACLKRREEEKVSAVSAE
PPTTLPGTHPGLSETTNPMGHM
Sequence length 682
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Myogenesis
RUNX1 regulates transcription of genes involved in differentiation of HSCs
NGF-stimulated transcription
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Coronal craniosynostosis Coronal craniosynostosis rs1566992093 23354436
Craniosynostosis Craniosynostosis, CRANIOSYNOSTOSIS 3, Craniosynostosis, Type 1 rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350 23354436, 24736737, 25271085
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Unknown
Disease term Disease name Evidence References Source
Trigonocephaly Trigonocephaly 23354436 ClinVar
Plagiocephaly isolated plagiocephaly GenCC
Brachycephaly isolated brachycephaly GenCC
Hypogonadotropic Hypogonadism hypogonadotropic hypogonadism 26 with or without anosmia GenCC
Associations from Text Mining
Disease Name Relationship Type References
Acrocephalosyndactylia Associate 25271085, 29215649
Adenocarcinoma of Lung Associate 34369267
Anemia Diamond Blackfan Associate 9292545
Aphasia Associate 25871887
Autism Spectrum Disorder Associate 31595719
Body Dysmorphic Disorders Associate 25871887
Breast Neoplasms Associate 26068592
Calcinosis Cutis Associate 22130667
Carcinogenesis Associate 31534521
Carcinoma Hepatocellular Associate 31534521