TFEC - transcription factor EC Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 22797

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 References 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 References 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

HLH: Helix-loop-helix DNA-binding domain (140 - 193)

DUF3371

DUF3371: Domain of unknown function (DUF3371) (225 - 345)

  • 0
  • 100
  • 200
  • 300
  • 347 a.a.
Protein Preferred Names Protein Names

transcription factor EC

  • class E basic helix-loop-helix protein 34

TFEC Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TFEC O14948 DEFB127 Homo sapiens Q9H1M4
Validated Y2H
25416956
Intra
TFEC O14948 NAPB Homo sapiens Q9H115
Y2H Array
25416956
Intra
TFEC O14948 NAPB Homo sapiens Q9H115
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set / 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
Others TFEC NCBI