• Gene id: 7030

Gene Summary

• Gene Symbol: TFE3   Gene   UCSC   Ensembl
• Aliases: RCCP2, RCCX1, TFEA, bHLHe33
• Gene name: transcription factor binding to IGHM enhancer 3
• Alternate names: transcription factor E3, class E basic helix-loop-helix protein 33, transcription factor E family, member A, transcription factor for IgH enhancer, transcription factor for immunoglobulin heavy-chain enhancer 3,
• Gene location: Xp11.23 (49043356: 49028725)     Exons: 11     NC_000023.11
• Gene summary(Entrez): This gene encodes a basic helix-loop-helix domain-containing transcription factor that binds MUE3-type E-box sequences in the promoter of genes. The encoded protein promotes the expression of genes downstream of transforming growth factor beta (TGF-beta)
• OMIM: 314310

SNPs

rs7156586

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75039527A>T
NC_000014.8   g.75506230A>T
NG_008649.1   g.17006T>A|SEQ=[A/T]|GENE=MLH3

rs175080

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.75047125G>A
NC_000014.8   g.75513828G>A
NG_008649.1   g.9408C>T
NM_014381.3   c.2531C>T
NM_014381.2   c.2531C>T
NM_001040108.2   c.2531C>T
NM_001040108.1   c.2531C>T
XM_005267532.5   c.2531C>T
XM_005267532.1   c.2531C>T
XM_005267533.5   c.2531C>T
XM_0052  

Protein Summary

• Protein general information: P19532  
  • Name: Transcription factor E3 (Class E basic helix loop helix protein 33) (bHLHe33)
  • Length: 575  
  • Mass: 61521
  • Tissue specificity: Ubiquitous in fetal and adult tissues. {ECO
• Sequence:

  MSHAAEPARDGVEASAEGPRAVFVLLEERRPADSAQLLSLNSLLPESGIVADIELENVLDPDSFYELKSQPLPLR
  SSLPISLQATPATPATLSASSSAGGSRTPAMSSSSSSRVLLRQQLMRAQAQEQERRERREQAAAAPFPSPAPASP
  AISVVGVSAGGHTLSRPPPAQVPREVLKVQTHLENPTRYHLQQARRQQVKQYLSTTLGPKLASQALTPPPGPASA
  QPLPAPEAAHTTGPTGSAPNSPMALLTIGSSSEKEIDDVIDEIISLESSYNDEMLSYLPGGTTGLQLPSTLPVSG
  NLLDVYSSQGVATPAITVSNSCPAELPNIKREISETEAKALLKERQKKDNHNLIERRRRFNINDRIKELGTLIPK
  SSDPEMRWNKGTILKASVDYIRKLQKEQQRSKDLESRQRSLEQANRSLQLRIQELELQAQIHGLPVPPTPGLLSL
  ATTSASDSLKPEQLDIEEEGRPGAATFHVGGGPAQNAPHQQPPAPPSDALLDLHFPSDHLGDLGDPFHLGLEDIL
  MEEEEGVVGGLSGGALSPLRAASDPLLSSVSPAVSKASSRRSSFSMEEES

• Structural information:
  • Protein Domains: (346..39-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR021802  IPR031867  IPR024100  
  • Prosite: PS50888
  • CDD: cd00083
  • DIP: 50187
  • STRING: ENSP00000314129
• Other Databases: GeneCards:  TFE3  Malacards:  TFE3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0006959	humoral immune response	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	ISS	molecular function
GO:0090336	positive regulation of brown fat cell differentiation	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0006959	humoral immune response	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0045670	regulation of osteoclast differentiation	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0002250	adaptive immune response	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0120163	negative regulation of cold-induced thermogenesis	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045785	positive regulation of cell adhesion	IMP	biological process
GO:0005634	nucleus	IMP	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer
hsa04137	Mitophagy - animal
hsa05211	Renal cell carcinoma

Diseases

Associated diseases	References
Renal cell carcinoma	KEGG:H00021
Alveolar soft part sarcoma	KEGG:H00051
Renal cell carcinoma	KEGG:H00021
Alveolar soft part sarcoma	KEGG:H00051
renal cell carcinoma	PMID:12917640
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray