Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22797
Gene name Gene Name - the full gene name approved by the HGNC.
Transcription factor EC
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TFEC
Synonyms (NCBI Gene) Gene synonyms aliases
TCFEC, TFE-C, TFEC-L, TFECL, bHLHe34, hTFEC-L
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q31.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT531710 hsa-miR-506-5p PAR-CLIP 22012620
MIRT531709 hsa-miR-873-5p PAR-CLIP 22012620
MIRT531708 hsa-miR-769-5p PAR-CLIP 22012620
MIRT531706 hsa-miR-5096 PAR-CLIP 22012620
MIRT531707 hsa-miR-335-3p PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 9256061
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604732 11754 ENSG00000105967
Protein
UniProt ID O14948
Protein name Transcription factor EC (TFE-C) (Class E basic helix-loop-helix protein 34) (bHLHe34) (Transcription factor EC-like) (hTFEC-L)
Protein function Transcriptional regulator that acts as a repressor or an activator. Acts as a transcriptional repressor on minimal promoter containing element F (that includes an E-box sequence). Binds to element F in an E-box sequence-specific manner. Acts as
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 140 193 Helix-loop-helix DNA-binding domain Domain
PF11851 DUF3371 225 344 Domain of unknown function (DUF3371) Family
Tissue specificity TISSUE SPECIFICITY: Expressed moderately in spleen, kidney, bone marrow, small intestine and leukocytes. Expressed weakly in testis, trachea and colon. {ECO:0000269|PubMed:11467950, ECO:0000269|PubMed:15118077}.
Sequence
MTLDHQIINPTLKWSQPAVPSGGPLVQHAHTTLDSDAGLTENPLTKLLAIGKEDDNAQWH
MEDVIEDIIGMESSFKEEGADSPLLMQRTLSGSILDVYSGEQGISPINMGLTSASCPSSL
PMKREITETDTRALAKERQKKDNHNLIERRRRYNINYRIKELGTLIPKSNDPDMRWNKGT
ILKASVEYIKWLQ
KEQQRARELEHRQKKLEQANRRLLLRIQELEIQARTHGLPTLASLGT
VDLGAHVTKQQSHPEQNSVDYCQQLTVSQGPSPELCDQAIAFSDPLSYFTDLSFSAALKE
EQRLDGMLLDDTISPFGTDPLLSATSPAVSKESSRRSSFSSDDG
DEL
Sequence length 347
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Unknown
Disease term Disease name Evidence References Source
Glaucoma Glaucoma GWAS
Atrial Fibrillation Atrial Fibrillation GWAS