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TCF12 transcription factor 12 [ Homo sapiens (human) ]

Gene ID: 6938, updated on 26-May-2016
Official Symbol
TCF12provided by HGNC
Official Full Name
transcription factor 12provided by HGNC
Primary source
HGNC:HGNC:11623
See related
Ensembl:ENSG00000140262 HPRD:02725; MIM:600480; Vega:OTTHUMG00000132047
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
HEB; CRS3; HTF4; TCF-12; bHLHb20; HsT17266
Summary
The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
Orthologs
Location:
15q21
Exon count:
25
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (56918289..57291129)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (57210833..57580716)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene acyl-CoA binding domain containing 7 pseudogene Neighboring gene uncharacterized LOC105370833 Neighboring gene uncharacterized LOC145783 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 11 Neighboring gene long intergenic non-protein coding RNA 926 Neighboring gene long intergenic non-protein coding RNA 1413

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Craniosynostosis 3
MedGen: C3715051 OMIM: 615314 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2015-10-15)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2015-10-15)

ClinGen Genome Curation PagePubMed

Replication interactions

Interaction Pubs
Knockdown of transcription factor 12 (TCF12; HTF4) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

  • CDO in myogenesis, organism-specific biosystem (from REACTOME)
    CDO in myogenesis, organism-specific biosystemCDO/Cdon (cell-adhesion-molecule-related/downregulated by oncogenes) is a type I transmembrane multifunctional co-receptor consisting of five immunoglobulin and three fibronectin type III (FNIII) rep...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Id Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Id Signaling Pathway, organism-specific biosystemInhibitor of DNA binding (ID) proteins are members of the helix-loop-helix (HLH) family of proteins which lack a DNA binding domain themselves but bind to other family members inhibiting their DNA bi...
  • Myogenesis, organism-specific biosystem (from REACTOME)
    Myogenesis, organism-specific biosystemMyogenesis, the formation of muscle tissue, is a complex process involving steps of cell proliferation mediated by growth factor signaling, cell differentiation, reorganization of cells to form myotu...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
E-box binding IEA
Inferred from Electronic Annotation
more info
 
HMG box domain binding IEA
Inferred from Electronic Annotation
more info
 
RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
cAMP response element binding IEA
Inferred from Electronic Annotation
more info
 
enhancer binding IC
Inferred by Curator
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
 
transcription factor activity, sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
immune response TAS
Traceable Author Statement
more info
PubMed 
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
RNA polymerase II transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
transcription factor 12
Names
DNA-binding protein HTF4
E-box-binding protein
class B basic helix-loop-helix protein 20
helix-loop-helix transcription factor 4
transcription factor HTF-4

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_033851.1 RefSeqGene

    Range
    5001..374884
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001306219.2NP_001293148.1  transcription factor 12 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks multiple exon in the 5' UTR and 5' coding region and uses an alternate 5' most exon compared to variant 1. The encoded isoform (d) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC016525, AC090532
    Consensus CDS
    CCDS76760.1
    UniProtKB/Swiss-Prot
    Q99081
    UniProtKB/TrEMBL
    B4DH96, F5GY10
    Conserved Domains (1) summary
    cd00083
    Location:429489
    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, ...
  2. NM_001306220.2NP_001293149.1  transcription factor 12 isoform e

    See identical proteins and their annotated locations for NP_001293149.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has multiple differences in the 5' UTR and coding region compared to variant 1. The encoded isoform (e) is shorter and has a distict N-terminus compared to isoform a.
    Source sequence(s)
    AC016525, AC090532
    Consensus CDS
    CCDS76761.1
    UniProtKB/Swiss-Prot
    Q99081
    Conserved Domains (1) summary
    cd00083
    Location:339399
    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, ...
  3. NM_001322151.1NP_001309080.1  transcription factor 12 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (1) summary
    cd00083
    Location:599659
    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, ...
  4. NM_001322152.1NP_001309081.1  transcription factor 12 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (1) summary
    cd00083
    Location:598658
    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, ...
  5. NM_001322154.1NP_001309083.1  transcription factor 12 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (1) summary
    cd00083
    Location:380440
    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, ...
  6. NM_001322156.1NP_001309085.1  transcription factor 12 isoform h

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (1) summary
    cd00083
    Location:541601
    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, ...
  7. NM_001322157.1NP_001309086.1  transcription factor 12 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (1) summary
    cd00083
    Location:575635
    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, ...
  8. NM_001322158.1NP_001309087.1  transcription factor 12 isoform i

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (1) summary
    cd00083
    Location:517577
    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, ...
  9. NM_001322159.1NP_001309088.1  transcription factor 12 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (1) summary
    cd00083
    Location:599659
    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, ...
  10. NM_001322161.1NP_001309090.1  transcription factor 12 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (1) summary
    cd00083
    Location:598658
    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, ...
  11. NM_001322162.1NP_001309091.1  transcription factor 12 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (1) summary
    cd00083
    Location:599659
    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, ...
  12. NM_001322164.1NP_001309093.1  transcription factor 12 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (1) summary
    cd00083
    Location:587647
    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, ...
  13. NM_001322165.1NP_001309094.1  transcription factor 12 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (1) summary
    cd00083
    Location:575635
    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, ...
  14. NM_003205.3NP_003196.1  transcription factor 12 isoform b

    See identical proteins and their annotated locations for NP_003196.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region (compared to variant 1), resulting in a protein that maintains the reading frame but is shorter, compared to isoform a. Variants 3 and 4 encode the same isoform b.
    Source sequence(s)
    AL831981, BC050556, BC051769, BK001049, BU178185, BX537967, M83233
    Consensus CDS
    CCDS10159.1
    UniProtKB/Swiss-Prot
    Q99081
    UniProtKB/TrEMBL
    A0A024R5T1
    Related
    ENSP00000267811, OTTHUMP00000162926, ENST00000267811, OTTHUMT00000255069
    Conserved Domains (1) summary
    cd00083
    Location:575635
    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, ...
  15. NM_207036.1NP_996919.1  transcription factor 12 isoform a

    See identical proteins and their annotated locations for NP_996919.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform a.
    Source sequence(s)
    AL831981, BC050556, BK001049, BX537967
    Consensus CDS
    CCDS10160.1
    UniProtKB/Swiss-Prot
    Q99081
    UniProtKB/TrEMBL
    A0A024R5Z0
    Related
    ENSP00000388940, OTTHUMP00000248880, ENST00000438423, OTTHUMT00000419519
    Conserved Domains (1) summary
    cd00083
    Location:599659
    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, ...
  16. NM_207037.1NP_996920.1  transcription factor 12 isoform a

    See identical proteins and their annotated locations for NP_996920.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform a.
    Source sequence(s)
    AL831981, BC050556, BK001049, BU178185, BX537967
    Consensus CDS
    CCDS10160.1
    UniProtKB/Swiss-Prot
    Q99081
    UniProtKB/TrEMBL
    A0A024R5Z0
    Related
    ENSP00000331057, OTTHUMP00000162927, ENST00000333725, OTTHUMT00000255070
    Conserved Domains (1) summary
    cd00083
    Location:599659
    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, ...
  17. NM_207038.1NP_996921.1  transcription factor 12 isoform b

    See identical proteins and their annotated locations for NP_996921.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the coding region (compared to variant 1), resulting in a protein that maintains the reading frame but is shorter, compared to isoform a. Variants 3 and 4 encode the same isoform b.
    Source sequence(s)
    BC051769, BK001049, M80627
    Consensus CDS
    CCDS10159.1
    UniProtKB/Swiss-Prot
    Q99081
    UniProtKB/TrEMBL
    A0A024R5T1
    Related
    ENSP00000453737, OTTHUMP00000248890, ENST00000557843, OTTHUMT00000419540
    Conserved Domains (1) summary
    cd00083
    Location:575635
    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, ...
  18. NM_207040.1NP_996923.1  transcription factor 12 isoform c

    See identical proteins and their annotated locations for NP_996923.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has multiple differences in the 5' UTR and coding region compared to variant 1. This results in a shorter isoform (c) with a distinct N-terminus, compared to isoform a.
    Source sequence(s)
    AL831981, AU120213, BC050556, BC051769, BK001049, BX537967
    Consensus CDS
    CCDS42042.1
    UniProtKB/Swiss-Prot
    Q99081
    Related
    ENSP00000342459, OTTHUMP00000248859, ENST00000343827, OTTHUMT00000419471
    Conserved Domains (1) summary
    cd00083
    Location:405465
    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, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

    Range
    56918289..57291129
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521960.1XP_011520262.1  

    See identical proteins and their annotated locations for XP_011520262.1

    Related
    ENSP00000453876, OTTHUMP00000248851, ENST00000559609, OTTHUMT00000419455
    Conserved Domains (1) summary
    cd00083
    Location:611671
    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, ...
  2. XM_011521959.1XP_011520261.1  

    See identical proteins and their annotated locations for XP_011520261.1

    Conserved Domains (1) summary
    cd00083
    Location:611671
    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, ...
  3. XM_011521961.1XP_011520263.1  

    Conserved Domains (1) summary
    cd00083
    Location:610670
    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, ...
  4. XM_011521962.1XP_011520264.1  

    Conserved Domains (1) summary
    cd00083
    Location:587647
    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, ...
  5. XM_011521963.1XP_011520265.1  

    Conserved Domains (1) summary
    cd00083
    Location:586646
    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, ...
  6. XM_005254613.3XP_005254670.1  

    Conserved Domains (1) summary
    cd00083
    Location:541601
    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, ...
  7. XM_011521965.1XP_011520267.1  

    Conserved Domains (1) summary
    cd00083
    Location:383443
    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, ...
  8. XM_011521967.1XP_011520269.1  

    Conserved Domains (1) summary
    cd00083
    Location:359419
    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, ...
  9. XM_011521966.1XP_011520268.1  

    Conserved Domains (1) summary
    cd00083
    Location:363423
    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, ...
  10. XM_011521968.1XP_011520270.1  

    Related
    ENSP00000444696, OTTHUMP00000248857, ENST00000537840, OTTHUMT00000419469
    Conserved Domains (1) summary
    cd00083
    Location:339399
    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, ...
  11. XM_011521964.1XP_011520266.1  

    Related
    ENSP00000440017, OTTHUMP00000248855, ENST00000543579, OTTHUMT00000419467
    Conserved Domains (1) summary
    cd00083
    Location:429489
    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, ...
  12. XM_011521969.1XP_011520271.1  

    Conserved Domains (1) summary
    cd00083
    Location:404464
    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, ...

Alternate CHM1_1.1

Genomic

  1. NC_018926.2 Alternate CHM1_1.1

    Range
    57329060..57698836
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)