U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TFEC transcription factor EC [ Homo sapiens (human) ]

Gene ID: 22797, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
TFECprovided by HGNC
Official Full Name
transcription factor ECprovided by HGNC
Primary source
HGNC:HGNC:11754
See related
Ensembl:ENSG00000105967 MIM:604732; AllianceGenome:HGNC:11754
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TCFEC; TFE-C; TFECL; TFEC-L; bHLHe34; hTFEC-L
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]
Expression
Broad expression in kidney (RPKM 6.5), appendix (RPKM 6.1) and 17 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
7q31.2
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (115935152..116159896, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (117250129..117474879, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (115575206..115670817, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375462 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:115412432-115412591 Neighboring gene uncharacterized LOC102724407 Neighboring gene VISTA enhancer hs1798 Neighboring gene Sharpr-MPRA regulatory region 6568 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:115807196-115807710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:115825203-115826194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:115826195-115827184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18553 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:115850475-115850737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26526 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18555 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26529 Neighboring gene uncharacterized LOC124901730 Neighboring gene uncharacterized LOC102724434 Neighboring gene testin LIM domain protein Neighboring gene uncharacterized LOC105375463

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Biology and clinical relevance of the micropthalmia family of transcription factors in human cancer. Haq R, et al. J Clin Oncol, 2011 Sep 1. PMID 21670463
  2. Molecular cloning of cDNA encoding a human TFEC isoform, a newly identified transcriptional regulator. Yasumoto K, et al. Biochim Biophys Acta, 1997 Jul 17. PMID 9256061
  3. Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains. Kuiper RP, et al. Nucleic Acids Res, 2004. PMID 15118077, Free PMC Article
  4. TFEC can function as a transcriptional activator of the nonmuscle myosin II heavy chain-A gene in transfected cells. Chung MC, et al. Biochemistry, 2001 Jul 31. PMID 11467950
  5. The microphthalmia transcription factor and the related helix-loop-helix zipper factors TFE-3 and TFE-C collaborate to activate the tartrate-resistant acid phosphatase promoter. Mansky KC, et al. J Leukoc Biol, 2002 Feb. PMID 11818452

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to heat IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
transcription factor EC
Names
class E basic helix-loop-helix protein 34

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_030005.2 RefSeqGene

    Range
    134133..229744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001018058.3 → NP_001018068.1  transcription factor EC isoform b

    See identical proteins and their annotated locations for NP_001018068.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter that isoform a.
    Source sequence(s)
    AC073141, AC096551
    Consensus CDS
    CCDS34738.1
    UniProtKB/TrEMBL
    Q75KY0
    Related
    ENSP00000318676.7, ENST00000320239.11
    Conserved Domains (3) summary
    cd00083
    Location:108 → 168
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam11851
    Location:196 → 315
    DUF3371; Domain of unknown function (DUF3371)
    cl21462
    Location:164 → 195
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

  2. NM_001244583.2 → NP_001231512.1  transcription factor EC isoform c

    See identical proteins and their annotated locations for NP_001231512.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AC096551, AJ608795, D43945
    Consensus CDS
    CCDS59076.1
    UniProtKB/TrEMBL
    Q75KY0
    Related
    ENSP00000387650.1, ENST00000457268.5
    Conserved Domains (2) summary
    cd00083
    Location:70 → 130
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam11851
    Location:158 → 265
    DUF3371; Domain of unknown function (DUF3371)

  3. NM_012252.4 → NP_036384.1  transcription factor EC isoform a

    See identical proteins and their annotated locations for NP_036384.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC096551, AK313546
    Consensus CDS
    CCDS5762.1
    UniProtKB/Swiss-Prot
    B2R8X5, O14948, Q5H9U8, Q709A4, Q8N6J9
    Related
    ENSP00000265440.7, ENST00000265440.12
    Conserved Domains (3) summary
    cd00083
    Location:137 → 197
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam11851
    Location:225 → 344
    DUF3371; Domain of unknown function (DUF3371)
    cl21462
    Location:193 → 224
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    115935152..116159896 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515970.2 → XP_011514272.1  transcription factor EC isoform X3

    Conserved Domains (3) summary
    cd00083
    Location:198 → 258
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam11851
    Location:286 → 405
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:6 → 146
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  2. XM_011515969.2 → XP_011514271.1  transcription factor EC isoform X2

    Conserved Domains (3) summary
    cd00083
    Location:231 → 268
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam11851
    Location:296 → 415
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:6 → 155
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  3. XM_011515963.2 → XP_011514265.1  transcription factor EC isoform X1

    See identical proteins and their annotated locations for XP_011514265.1

    Conserved Domains (3) summary
    cd00083
    Location:227 → 287
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam11851
    Location:315 → 434
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:6 → 155
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  4. XM_011515964.3 → XP_011514266.1  transcription factor EC isoform X1

    See identical proteins and their annotated locations for XP_011514266.1

    Conserved Domains (3) summary
    cd00083
    Location:227 → 287
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam11851
    Location:315 → 434
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:6 → 155
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  5. XM_047420054.1 → XP_047276010.1  transcription factor EC isoform X3

  6. XM_047420050.1 → XP_047276006.1  transcription factor EC isoform X1

  7. XM_047420051.1 → XP_047276007.1  transcription factor EC isoform X1

  8. XM_047420053.1 → XP_047276009.1  transcription factor EC isoform X3

  9. XM_011515965.3 → XP_011514267.1  transcription factor EC isoform X1

    See identical proteins and their annotated locations for XP_011514267.1

    Conserved Domains (3) summary
    cd00083
    Location:227 → 287
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam11851
    Location:315 → 434
    DUF3371; Domain of unknown function (DUF3371)
    pfam15951
    Location:6 → 155
    MITF_TFEB_C_3_N; MITF/TFEB/TFEC/TFE3 N-terminus

  10. XM_047420052.1 → XP_047276008.1  transcription factor EC isoform X1

  11. XM_047420055.1 → XP_047276011.1  transcription factor EC isoform X4

  12. XM_017011875.2 → XP_016867364.1  transcription factor EC isoform X5

    UniProtKB/Swiss-Prot
    B2R8X5, O14948, Q5H9U8, Q709A4, Q8N6J9
    Conserved Domains (3) summary
    cd00083
    Location:137 → 197
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam11851
    Location:225 → 344
    DUF3371; Domain of unknown function (DUF3371)
    cl21462
    Location:193 → 224
    bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

  13. XM_017011876.3 → XP_016867365.1  transcription factor EC isoform X7

    UniProtKB/TrEMBL
    Q75KY0
    Conserved Domains (2) summary
    cd00083
    Location:49 → 109
    HLH; Helix-loop-helix domain, found in specific DNA- binding proteins that act as transcription factors; 60-100 amino acids long. A DNA-binding basic region is followed by two alpha-helices separated by a variable loop region; HLH forms homo- and heterodimers, ...
    pfam11851
    Location:137 → 256
    DUF3371; Domain of unknown function (DUF3371)

  14. XM_017011878.3 → XP_016867367.1  transcription factor EC isoform X8

    UniProtKB/TrEMBL
    Q75KY0

  15. XM_017011877.2 → XP_016867366.1  transcription factor EC isoform X8

    UniProtKB/TrEMBL
    Q75KY0

  16. XM_047420056.1 → XP_047276012.1  transcription factor EC isoform X6

    Related
    ENSP00000417432.1, ENST00000484212.5

RNA

  1. XR_007059992.1 RNA Sequence

  2. XR_007059993.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    117250129..117474879 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357619.1 → XP_054213594.1  transcription factor EC isoform X3

  2. XM_054357618.1 → XP_054213593.1  transcription factor EC isoform X2

  3. XM_054357612.1 → XP_054213587.1  transcription factor EC isoform X1

  4. XM_054357615.1 → XP_054213590.1  transcription factor EC isoform X1

  5. XM_054357613.1 → XP_054213588.1  transcription factor EC isoform X1

  6. XM_054357617.1 → XP_054213592.1  transcription factor EC isoform X1

  7. XM_054357620.1 → XP_054213595.1  transcription factor EC isoform X3

  8. XM_054357624.1 → XP_054213599.1  transcription factor EC isoform X6

  9. XM_054357621.1 → XP_054213596.1  transcription factor EC isoform X3

  10. XM_054357616.1 → XP_054213591.1  transcription factor EC isoform X1

  11. XM_054357614.1 → XP_054213589.1  transcription factor EC isoform X1

  12. XM_054357622.1 → XP_054213597.1  transcription factor EC isoform X4

  13. XM_054357623.1 → XP_054213598.1  transcription factor EC isoform X5

    UniProtKB/Swiss-Prot
    B2R8X5, O14948, Q5H9U8, Q709A4, Q8N6J9

  14. XM_054357625.1 → XP_054213600.1  transcription factor EC isoform X7

  15. XM_054357627.1 → XP_054213602.1  transcription factor EC isoform X8

  16. XM_054357626.1 → XP_054213601.1  transcription factor EC isoform X8

RNA

  1. XR_008487543.1 RNA Sequence

  2. XR_008487544.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14948.1 GenPept UniProtKB/Swiss-Prot:O14948

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous