Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	22797
Gene name	Transcription factor EC
Gene symbol	TFEC
Synonyms (NCBI Gene)	TCFECTFE-CTFEC-LTFECLbHLHe34hTFEC-L
Chromosome	7
Chromosome location	7q31.2
Summary	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

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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
MIRT439472	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT439471	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT439472	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT439471	hsa-miR-374a-5p	HITS-CLIP	22473208
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
MIRT1420494	hsa-miR-1197	CLIP-seq
MIRT1420495	hsa-miR-130a	CLIP-seq
MIRT1420496	hsa-miR-130b	CLIP-seq
MIRT1420497	hsa-miR-148a	CLIP-seq
MIRT1420498	hsa-miR-148b	CLIP-seq
MIRT1420499	hsa-miR-152	CLIP-seq
MIRT1420500	hsa-miR-155	CLIP-seq
MIRT1420501	hsa-miR-216b	CLIP-seq
MIRT1420502	hsa-miR-301a	CLIP-seq
MIRT1420503	hsa-miR-301b	CLIP-seq
MIRT1420504	hsa-miR-3123	CLIP-seq
MIRT1420505	hsa-miR-3148	CLIP-seq
MIRT1420506	hsa-miR-3606	CLIP-seq
MIRT1420507	hsa-miR-3616-5p	CLIP-seq
MIRT1420508	hsa-miR-3617	CLIP-seq
MIRT1420509	hsa-miR-3646	CLIP-seq
MIRT1420510	hsa-miR-3647-5p	CLIP-seq
MIRT1420511	hsa-miR-365	CLIP-seq
MIRT1420512	hsa-miR-3666	CLIP-seq
MIRT1420513	hsa-miR-3688-3p	CLIP-seq
MIRT1420514	hsa-miR-380	CLIP-seq
MIRT1420515	hsa-miR-3919	CLIP-seq
MIRT1420516	hsa-miR-3924	CLIP-seq
MIRT1420517	hsa-miR-4295	CLIP-seq
MIRT1420518	hsa-miR-4311	CLIP-seq
MIRT1420519	hsa-miR-4436b-3p	CLIP-seq
MIRT1420520	hsa-miR-454	CLIP-seq
MIRT1420521	hsa-miR-4738-3p	CLIP-seq
MIRT1420522	hsa-miR-4742-3p	CLIP-seq
MIRT1420523	hsa-miR-4761-3p	CLIP-seq
MIRT1420524	hsa-miR-4795-5p	CLIP-seq
MIRT1420525	hsa-miR-4797-5p	CLIP-seq
MIRT1420526	hsa-miR-532-5p	CLIP-seq
MIRT1420527	hsa-miR-573	CLIP-seq
MIRT1420528	hsa-miR-607	CLIP-seq
MIRT1420529	hsa-miR-641	CLIP-seq
MIRT1420530	hsa-miR-944	CLIP-seq
MIRT1420531	hsa-miR-188-5p	CLIP-seq
MIRT1420532	hsa-miR-204	CLIP-seq
MIRT1420533	hsa-miR-211	CLIP-seq
MIRT1420534	hsa-miR-4668-3p	CLIP-seq
MIRT1420535	hsa-miR-548c-3p	CLIP-seq
MIRT1420536	hsa-miR-605	CLIP-seq
MIRT1420505	hsa-miR-3148	CLIP-seq
MIRT2126305	hsa-miR-3153	CLIP-seq
MIRT2126306	hsa-miR-3163	CLIP-seq
MIRT2126307	hsa-miR-3662	CLIP-seq
MIRT2126308	hsa-miR-4328	CLIP-seq
MIRT2126309	hsa-miR-433	CLIP-seq
MIRT2126310	hsa-miR-4668-5p	CLIP-seq
MIRT2348290	hsa-miR-1267	CLIP-seq
MIRT2348291	hsa-miR-1539	CLIP-seq
MIRT2348292	hsa-miR-3074-5p	CLIP-seq
MIRT1420505	hsa-miR-3148	CLIP-seq
MIRT2126305	hsa-miR-3153	CLIP-seq
MIRT2348293	hsa-miR-3182	CLIP-seq
MIRT2348294	hsa-miR-3193	CLIP-seq
MIRT2126307	hsa-miR-3662	CLIP-seq
MIRT1420514	hsa-miR-380	CLIP-seq
MIRT1420516	hsa-miR-3924	CLIP-seq
MIRT2348295	hsa-miR-4282	CLIP-seq
MIRT2348296	hsa-miR-4495	CLIP-seq
MIRT2348297	hsa-miR-4652-3p	CLIP-seq
MIRT2348298	hsa-miR-4659a-3p	CLIP-seq
MIRT2348299	hsa-miR-4659b-3p	CLIP-seq
MIRT2126310	hsa-miR-4668-5p	CLIP-seq
MIRT2348300	hsa-miR-4698	CLIP-seq
MIRT2348301	hsa-miR-501-5p	CLIP-seq
MIRT1420528	hsa-miR-607	CLIP-seq
MIRT2461375	hsa-miR-1276	CLIP-seq
MIRT1420518	hsa-miR-4311	CLIP-seq
MIRT2461376	hsa-miR-583	CLIP-seq
MIRT2640939	hsa-miR-3614-5p	CLIP-seq
MIRT2640940	hsa-miR-450b-3p	CLIP-seq
MIRT2640941	hsa-miR-4713-3p	CLIP-seq
MIRT2640942	hsa-miR-543	CLIP-seq
MIRT2640943	hsa-miR-570	CLIP-seq
MIRT2640944	hsa-miR-638	CLIP-seq
MIRT2640945	hsa-miR-769-3p	CLIP-seq

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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
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	9256061
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	TAS	9256061
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0034605	Process	Cellular response to heat	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9256061
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
604732	11754	ENSG00000105967

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
ILKASVEYIKWLQKEQQRARELEHRQKKLEQANRRLLLRIQELEIQARTHGLPTLASLGT
VDLGAHVTKQQSHPEQNSVDYCQQLTVSQGPSPELCDQAIAFSDPLSYFTDLSFSAALKE
EQRLDGMLLDDTISPFGTDPLLSATSPAVSKESSRRSSFSSDDGDEL

Sequence length

347

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBERCULOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

TFEC (transcription factor EC)