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    TFEC transcription factor EC [ Homo sapiens (human) ]

    Gene ID: 22797, updated on 10-Dec-2024

    Summary

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    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
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    Genomic context

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    See TFEC in Genome Data Viewer
    Location:
    7q31.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (115935152..116159896, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (117250129..117474879, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    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. 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
    4. 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
    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

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

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    located_in 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

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    Preferred Names
    transcription factor EC
    Names
    class E basic helix-loop-helix protein 34

    NCBI Reference Sequences (RefSeq)

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    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_2024_08

    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

      UniProtKB/TrEMBL
      B7Z757
      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

      UniProtKB/TrEMBL
      B7Z757

    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

      UniProtKB/TrEMBL
      Q75KY0

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

      UniProtKB/TrEMBL
      Q75KY0

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

      UniProtKB/TrEMBL
      Q75KY0

    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

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