TFEC - transcription factor EC Gene

Homo sapiens

Also known as TCFEC; TFE-C; TFECL; TFEC-L; bHLHe34; hTFEC-L

Gene ID: 22797 | Gene type: protein coding

About TFEC

Cytogenetic location: 7q31.2 Genomic coordinates (GRCh38): 7:115,935,152-116,159,896 (from NCBI)

This gene has 9 transcripts (splice variants), 208 orthologues and 3 paralogues. Broad expression in kidney (RPKM 6.5), appendix (RPKM 6.1) and 17 other tissues.

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 heterodimers, and play roles in multiple cellular processes including survival, growth and differentiation. The encoded protein is a transcriptional activator of the nonmuscle Myosin II heavy chain-A gene, and may also co-regulate target genes in osteoclasts as a heterodimer with micropthalmia-associated transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

TFEC Products(3)

mRNA	Protein	Name
NM_001018058.3	NP_001018068.1	transcription factor EC isoform b
NM_001244583.2	NP_001231512.1	transcription factor EC isoform c
NM_012252.4	NP_036384.1	transcription factor EC isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	9256061	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9256061	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	9256061	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TFEC Protein Structure

HLH

DUF3371

0
100
200
300
347 a.a.

Protein Preferred Names

Protein Names

transcription factor EC

class E basic helix-loop-helix protein 34

Related Diseases

Diseases

Alias

Waardenburg Syndrome, Type 2a

Waardenburg Syndrome Type 2a	WS2A
Waardenburg Syndrome, Type Iia	Waardenburg Syndrome Without Dystopia Canthorum
Ws2	Waardenburg Syndrome Type Iia
Waardenburg Syndrome 2a

Childhood Kidney Cell Carcinoma

Pediatric Renal Cell Carcinoma

Childhood Renal Cell Carcinoma

Tietz Albinism-Deafness Syndrome

Tietz Syndrome	Albinism-Deafness Of Tietz
Hypopigmentation/Deafness Of Tietz	Tietze'S Syndrome
TADS	Costochondral Junction Syndrome
Costochondritis	Tietze Syndrome
Hypopigmentation-Deafness Syndrome	Costalchondritis
Slipping Rib Syndrome	Tietze'S Disease
Chondropathia Tuberosa	Albinism And Complete Nerve Deafness
Tietz'S Syndrome	Hypopigmentation-Hearing Loss Syndrome
Costal Chondritis	Abnormality Of The Costochondral Junction

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Alveolar Soft Part Sarcoma

ASPS	Alveolar Soft-Part Sarcoma
Sarcoma, Alveolar Soft Part	Alveolar Soft Tissue Sarcoma
Sarcoma Alveolar Soft Part	Adult Alveolar Soft-Part Sarcoma
Childhood Alveolar Soft-Part Sarcoma

Perivascular Epithelioid Cell Tumor

Pecoma	Perivascular Epithelioid Cell Neoplasms
Neoplasm With Perivascular Epithelioid Cell Differentiation

Waardenburg Syndrome, Type 2e

Waardenburg Syndrome Type 2	Waardenburg Syndrome Type 2e
WS2E	Waardenburg Syndrome, Type 2e, With Or Without Neurologic Involvement
Waardenburg Syndrome, Type Iie	Hypogonadotropic Hypogonadism With Anosmia And Deafness With Or Without Hypopigmentation
Waardenburg Syndrome Type 2e With Or Without Neurologic Involvement	Waardenburg Syndrome Type Iie
Hypogonadotropic Hypogonadism With Anosmia And Deafness, With Or Without Hypopigmentation	Ws2e, With Or Without Neurologic Involvement
Ws2e With Or Without Neurological Involvement	Ws 2
Ws Type 2	Ws2
Waardenburg Syndrome Type Ii	Waardenburg Syndrome 2e
Kallmann Syndrome And Deafness With Or Without Hypopigmentation	Ws2e With Or Without Neurologic Involvement
Waardenburg Syndrome Type 2e, Without Neurologic Involvement	Ws-2

Waardenburg'S Syndrome

Waardenburg Syndrome	Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome
Van Der Hoeve Halbertsona Waardenburg Syndrome	Waardenburg Shah Syndrome
Waardenburg, Types I And/Or Ii	Mende Syndrome
Waardenburgs Syndrome	Waardenburg Syndrome, Type 4a

Waardenburg Syndrome, Type 3

Waardenburg Syndrome Type 3	Klein-Waardenburg Syndrome
WS3	Waardenburg Syndrome With Upper Limb Anomalies
Waardenburg Syndrome Type Iii	Waardenburg Syndrome, Type Iii
White Forelock Syndrome With Multiple Congenital Malformations	Waardenburg Syndrome With Limb Anomalies
Waardenburg Syndrome 3	White Forelock With Malformations
Klein'S Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14421	TFEC Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TFEC	VGNC	VGNC:47295
Felis catus	TFEC	VGNC	VGNC:66118
Mus musculus	TFEC	MGD	MGI:1333760
Macaca mulatta	TFEC	VGNC	VGNC:81769
Rattus norvegicus	TFEC	RGD	RGD:3846
Bos taurus	TFEC	VGNC	VGNC:35789

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