Human Gene TFEB (uc003oqu.2)
Description: Homo sapiens transcription factor EB (TFEB), transcript variant 2, mRNA.
Transcript (Including UTRs)
Position: hg19 chr6:41,651,716-41,703,997 Size: 52,282 Total Exon Count: 9 Strand: -
Coding Region
Position: hg19 chr6:41,652,337-41,703,903 Size: 51,567 Coding Exon Count: 9
Data last updated at UCSC: 2013-06-14
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: B0QYS6_HUMAN
DESCRIPTION: SubName: Full=Transcription factor EB;
SIMILARITY: Contains 1 basic helix-loop-helix (bHLH) domain.
Primer design for this transcript
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): TFEB
CDC HuGE Published Literature: TFEB
Positive Disease Associations: ADHD | attention-deficit hyperactivity disorder
, Coronary Disease
, Metabolism
Related Studies: ADHD | attention-deficit hyperactivity disorder Lesch ,et al. 2008, Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies, Journal of neural transmission (Vienna, Austria : 1996) 2008 115- 11 : 1573-85.
[PubMed 18839057 ]
Coronary Disease , , .
[PubMed 0 ]
Metabolism , , .
[PubMed 0 ]
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MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR024097 - bHLH_ZIP_TF
IPR021802 - bHLH_ZIP_TF_MiT/TFE
IPR011598 - HLH_dom
IPR024098 - TFEB
Pfam Domains: PF00010 - Helix-loop-helix DNA-binding domain
PF11851 - Domain of unknown function (DUF3371)
PF15951 - MITF/TFEB/TFEC/TFE3 N-terminus
SCOP Domains: 47459 - HLH, helix-loop-helix DNA-binding domain
ModBase Predicted Comparative 3D Structure on B0QYS6
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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:0046983 protein dimerization activity
Biological Process: GO:0006355 regulation of transcription, DNA-templated
GO:0006959 humoral immune response
GO:0045893 positive regulation of transcription, DNA-templated
Descriptions from all associated GenBank mRNAs
BC032448 - Homo sapiens transcription factor EB, mRNA (cDNA clone MGC:40490 IMAGE:5180066), complete cds.AJ608786 - Homo sapiens mRNA for transcription factor EB (TFEB gene), splice variant A.AK298390 - Homo sapiens cDNA FLJ55171 complete cds, highly similar to Transcription factor EB.M33782 - Human TFEB protein mRNA, partial cds.AK095061 - Homo sapiens cDNA FLJ37742 fis, clone BRHIP2022054, highly similar to Transcription factor EB.AK310063 - Homo sapiens cDNA, FLJ17105.AJ608790 - Homo sapiens partial mRNA for transcription factor EB (TFEB gene), splice variant 1e/1c2 including exon 1e.AJ608791 - Homo sapiens partial mRNA for transcription factor EB (TFEB gene), splice variant including exon 1f.AJ608787 - Homo sapiens partial mRNA for transcription factor EB (TFEB gene), splice variant C1.AJ608789 - Homo sapiens partial mRNA for transcription factor EB (TFEB gene), splice variant including exon 1e.AJ608788 - Homo sapiens partial mRNA for transcription factor EB (TFEB gene), splice variant including exon 1d.BC006225 - Homo sapiens transcription factor EB, mRNA (cDNA clone IMAGE:3944945), partial cds.JD137722 - Sequence 118746 from Patent EP1572962.JD192404 - Sequence 173428 from Patent EP1572962.JD141273 - Sequence 122297 from Patent EP1572962.JD537714 - Sequence 518738 from Patent EP1572962.JD222557 - Sequence 203581 from Patent EP1572962.JD475162 - Sequence 456186 from Patent EP1572962.JD195817 - Sequence 176841 from Patent EP1572962.JD140028 - Sequence 121052 from Patent EP1572962.JD483371 - Sequence 464395 from Patent EP1572962.JD372866 - Sequence 353890 from Patent EP1572962.JD526718 - Sequence 507742 from Patent EP1572962.JD236055 - Sequence 217079 from Patent EP1572962.JD455570 - Sequence 436594 from Patent EP1572962.JD476262 - Sequence 457286 from Patent EP1572962.JD540799 - Sequence 521823 from Patent EP1572962.KJ892453 - Synthetic construct Homo sapiens clone ccsbBroadEn_01847 TFEB gene, encodes complete protein.EU446667 - Synthetic construct Homo sapiens clone IMAGE:100070013; IMAGE:100011876; FLH258249.01L transcription factor EB (TFEB) gene, encodes complete protein.AB527507 - Synthetic construct DNA, clone: pF1KB5822, Homo sapiens TFEB gene for transcription factor EB, without stop codon, in Flexi system.CU689376 - Synthetic construct Homo sapiens gateway clone IMAGE:100019576 5' read TFEB mRNA.AJ608794 - Homo sapiens partial mRNA for transcription factor EB (TFEB gene), splice variant 1g.AJ608793 - Homo sapiens partial mRNA for transcription factor EB (TFEB gene), splice variant including exons 1g1 and 1g2.AJ608792 - Homo sapiens partial mRNA for transcription factor EB (TFEB gene), splice variant including exon 1g1.
Other Names for This Gene
Alternate Gene Symbols: B0QYS6, B0QYS6_HUMAN, NM_001167827, NP_001161299, RP4-696P19.3-010, uc003oqu.1UCSC ID: uc003oqu.2RefSeq Accession: NM_001167827
Protein: B0QYS6
CCDS: CCDS4858.1 , CCDS64425.1
Gene Model Information
category:
coding
nonsense-mediated-decay:
no
RNA accession:
NM_001167827.2
exon count:
9 CDS single in 3' UTR:
no
RNA size:
2280
ORF size:
1473 CDS single in intron:
no
Alignment % ID:
100.00
txCdsPredict score:
3068.00 frame shift in genome:
no
% Coverage:
95.96
has start codon:
yes
stop codon in genome:
no
# of Alignments:
1
has end codon:
yes
retained intron:
no
# AT/AC introns
0
selenocysteine:
no
end bleed into intron:
0 # strange splices:
0
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Methods, Credits, and Use Restrictions
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