• Gene id: 22797

Gene Summary

• Gene Symbol: TFEC   Gene   UCSC   Ensembl
• Aliases: TCFEC, TFE-C, TFEC-L, TFECL, bHLHe34, hTFEC-L
• Gene name: transcription factor EC
• Alternate names: transcription factor EC, class E basic helix-loop-helix protein 34,
• Gene location: 7q31.2 (116159890: 115935147)     Exons: 18     NC_000007.14
• Gene summary(Entrez): This gene encodes a member of the micropthalmia (MiT) family of basic helix-loop-helix leucine zipper transcription factors. MiT transcription factors regulate the expression of target genes by binding to E-box recognition sequences as homo- or heterodime
• OMIM: 300197

Protein Summary

• Protein general information: O14948  
  • Name: Transcription factor EC (TFE C) (Class E basic helix loop helix protein 34) (bHLHe34) (Transcription factor EC like) (hTFEC L)
  • Length: 347  
  • Mass: 38788
  • Tissue specificity: Expressed moderately in spleen, kidney, bone marrow, small intestine and leukocytes. Expressed weakly in testis, trachea and colon. {ECO
• Sequence:

  MTLDHQIINPTLKWSQPAVPSGGPLVQHAHTTLDSDAGLTENPLTKLLAIGKEDDNAQWHMEDVIEDIIGMESSF
  KEEGADSPLLMQRTLSGSILDVYSGEQGISPINMGLTSASCPSSLPMKREITETDTRALAKERQKKDNHNLIERR
  RRYNINYRIKELGTLIPKSNDPDMRWNKGTILKASVEYIKWLQKEQQRARELEHRQKKLEQANRRLLLRIQELEI
  QARTHGLPTLASLGTVDLGAHVTKQQSHPEQNSVDYCQQLTVSQGPSPELCDQAIAFSDPLSYFTDLSFSAALKE
  EQRLDGMLLDDTISPFGTDPLLSATSPAVSKESSRRSSFSSDDGDEL

• Structural information:
  • Protein Domains: (139..19-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  IPR021802  IPR024101  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000265440
• Other Databases: GeneCards:  TFEC  Malacards:  TFEC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0034605	cellular response to heat	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	TAS	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881