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    Tcf12 transcription factor 12 [ Mus musculus (house mouse) ]

    Gene ID: 21406, updated on 9-Dec-2024

    Summary

    Official Symbol
    Tcf12provided by MGI
    Official Full Name
    transcription factor 12provided by MGI
    Primary source
    MGI:MGI:101877
    See related
    Ensembl:ENSMUSG00000032228 AllianceGenome:MGI:101877
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    HEB; ME1; REB; ALF1; HTF4; HTF-4; HEBAlt; bHLHb20; A130037E08Rik
    Summary
    Enables E-box binding activity and protein heterodimerization activity. Involved in positive regulation of neuron differentiation. Acts upstream of or within positive regulation of DNA-templated transcription and positive regulation of gene expression. Part of transcription regulator complex. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in craniosynostosis and hypogonadotropic hypogonadism. Orthologous to human TCF12 (transcription factor 12). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 41.6), limb E14.5 (RPKM 34.8) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Tcf12 in Genome Data Viewer
    Location:
    9 D; 9 39.85 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (71751534..72019611, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (71844252..72111893, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:71454614-71454767 Neighboring gene STARR-seq mESC enhancer starr_24576 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:71471793-71471976 Neighboring gene STARR-seq mESC enhancer starr_24577 Neighboring gene STARR-positive B cell enhancer mm9_chr9:71493898-71494198 Neighboring gene dynein light chain 1, cytoplasmic-like Neighboring gene cingulin-like 1 Neighboring gene predicted gene, 51713 Neighboring gene STARR-seq mESC enhancer starr_24580 Neighboring gene STARR-seq mESC enhancer starr_24581 Neighboring gene STARR-seq mESC enhancer starr_24582 Neighboring gene STARR-seq mESC enhancer starr_24583 Neighboring gene STARR-positive B cell enhancer ABC_E2904 Neighboring gene splicing factor, arginine/serine-rich 7 pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr9:71799166-71799467 Neighboring gene STARR-positive B cell enhancer mm9_chr9:71823828-71824128 Neighboring gene ribosomal protein L15, pseudogene 2 Neighboring gene predicted gene, 25045 Neighboring gene ribosomal protein L7A pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables E-box binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables HMG box domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables HMG box domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables SMAD binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables SMAD binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables bHLH transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables bHLH transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables cAMP response element binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cAMP response element binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to transcription cis-regulatory region binding ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of RNA polymerase II transcription regulator complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in chromatin IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromatin ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    part_of transcription regulator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of transcription regulator complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    transcription factor 12
    Names
    DNA-binding protein HTF4
    E-box-binding protein
    TCF-12
    class A helix-loop-helix transcription factor ME1
    transcription factor HTF-4

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001253862.1NP_001240791.1  transcription factor 12 isoform 2

      See identical proteins and their annotated locations for NP_001240791.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses a different segment for its 5' UTR and lacks an alternate exon in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AK133958, AK134037, AK134502, BQ127642
      Consensus CDS
      CCDS72272.1
      UniProtKB/TrEMBL
      V9GWU2
      Conserved Domains (1) summary
      cd18945
      Location:571655
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    2. NM_001253863.1NP_001240792.1  transcription factor 12 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has a different 5' end and lacks several exon in the coding region, which results in the use of a downstream start codon, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct N-terminus when it is compared to isoform 1.
      Source sequence(s)
      AK133958, AK134502, AK135376, BQ127642, CJ164494
      Consensus CDS
      CCDS72271.1
      UniProtKB/TrEMBL
      Q3UZA4, V9GX46
      Related
      ENSMUSP00000138978.2, ENSMUST00000183918.8
      Conserved Domains (2) summary
      smart00353
      Location:437490
      HLH; helix loop helix domain
      pfam09786
      Location:105292
      CytochromB561_N; Cytochrome B561, N terminal
    3. NM_001253864.1NP_001240793.1  transcription factor 12 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has a different 5' end and lacks several exons in the coding region, which results in the use of a downstream start codon, compared to variant 1. The resulting protein (isoform 4) is shorter and has a distinct N-terminus when it is compared to isoform 1.
      Source sequence(s)
      AK133958, AK134502, AK135376, BQ127642, CJ164494
      UniProtKB/TrEMBL
      Q3UZA4
      Related
      ENSMUSP00000139334.2, ENSMUST00000184448.8
      Conserved Domains (1) summary
      smart00353
      Location:413466
      HLH; helix loop helix domain
    4. NM_001253865.1NP_001240794.1  transcription factor 12 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks several exons in the coding region, compared to variant 1. The resulting protein (isoform 5) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AK133958, AK134502, BQ127642, BY739497, X64840
      UniProtKB/TrEMBL
      Q8K1X3
      Conserved Domains (1) summary
      smart00353
      Location:364417
      HLH; helix loop helix domain
    5. NM_011544.3NP_035674.2  transcription factor 12 isoform 1

      See identical proteins and their annotated locations for NP_035674.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform 1).
      Source sequence(s)
      AK133958, AK134502, AK143246, BQ127642, BY739497, X64840
      Consensus CDS
      CCDS23329.1
      UniProtKB/Swiss-Prot
      E9QPN4, Q61286
      UniProtKB/TrEMBL
      V9GWU2
      Related
      ENSMUSP00000139365.2, ENSMUST00000183404.8
      Conserved Domains (1) summary
      cd18945
      Location:595679
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000075.7 Reference GRCm39 C57BL/6J

      Range
      71751534..72019611 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036154818.1XP_036010711.1  transcription factor 12 isoform X14

      UniProtKB/TrEMBL
      Q8K1X3
      Conserved Domains (1) summary
      cd18945
      Location:376460
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    2. XM_006510998.4XP_006511061.1  transcription factor 12 isoform X5

      UniProtKB/TrEMBL
      V9GWU2
      Conserved Domains (1) summary
      cd18945
      Location:570654
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    3. XM_006510999.4XP_006511062.1  transcription factor 12 isoform X6

      UniProtKB/TrEMBL
      V9GWU2
      Conserved Domains (1) summary
      cd18945
      Location:570654
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    4. XM_006510997.4XP_006511060.1  transcription factor 12 isoform X4

      See identical proteins and their annotated locations for XP_006511060.1

      UniProtKB/TrEMBL
      V9GWU2
      Related
      ENSMUSP00000034755.7, ENSMUST00000034755.13
      Conserved Domains (1) summary
      cd18945
      Location:571655
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    5. XM_006510995.4XP_006511058.1  transcription factor 12 isoform X2

      UniProtKB/TrEMBL
      V9GWU2
      Conserved Domains (1) summary
      cd18945
      Location:594678
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    6. XM_006510996.4XP_006511059.1  transcription factor 12 isoform X3

      UniProtKB/TrEMBL
      V9GWU2
      Conserved Domains (1) summary
      cd18945
      Location:594678
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    7. XM_030244212.2XP_030100072.1  transcription factor 12 isoform X9

      UniProtKB/TrEMBL
      V9GWU2
      Conserved Domains (1) summary
      cd18945
      Location:512596
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    8. XM_017313270.3XP_017168759.1  transcription factor 12 isoform X8

      UniProtKB/TrEMBL
      V9GWU2
      Conserved Domains (1) summary
      cd18945
      Location:513597
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    9. XM_006511000.5XP_006511063.1  transcription factor 12 isoform X7

      UniProtKB/TrEMBL
      V9GWU2
      Conserved Domains (1) summary
      cd18945
      Location:537621
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    10. XM_006510994.5XP_006511057.1  transcription factor 12 isoform X1

      See identical proteins and their annotated locations for XP_006511057.1

      UniProtKB/Swiss-Prot
      E9QPN4, Q61286
      UniProtKB/TrEMBL
      V9GWU2
      Conserved Domains (1) summary
      cd18945
      Location:595679
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    11. XM_030244214.1XP_030100074.1  transcription factor 12 isoform X12

      UniProtKB/TrEMBL
      Q3UZA4
      Conserved Domains (1) summary
      cd18945
      Location:434518
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    12. XM_006511002.2XP_006511065.1  transcription factor 12 isoform X13

      UniProtKB/TrEMBL
      Q3UZA4
      Conserved Domains (1) summary
      cd18945
      Location:434518
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    13. XM_030244213.1XP_030100073.1  transcription factor 12 isoform X10

      UniProtKB/TrEMBL
      Q3UZA4
      Conserved Domains (1) summary
      cd18945
      Location:458542
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins
    14. XM_036154817.1XP_036010710.1  transcription factor 12 isoform X11

      UniProtKB/TrEMBL
      Q3UZA4
      Conserved Domains (1) summary
      cd18945
      Location:458542
      bHLH_E-protein_TCF4_E2-2; basic helix-loop-helix (bHLH) domain found in transcription factor 4 (TCF-4) and similar proteins