Format

Send to:

Choose Destination

TCF12 transcription factor 12 [ Homo sapiens (human) ]

Gene ID: 6938, updated on 21-Apr-2019

Summary

Official Symbol
TCF12provided by HGNC
Official Full Name
transcription factor 12provided by HGNC
Primary source
HGNC:HGNC:11623
See related
Ensembl:ENSG00000140262 MIM:600480
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; p64; 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]
Expression
Ubiquitous expression in brain (RPKM 23.3), endometrium (RPKM 15.8) and 25 other tissues See more
Orthologs

Genomic context

See TCF12 in Genome Data Viewer
Location:
15q21.3
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (56918090..57292595)
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 VISTA enhancer hs357 Neighboring gene VISTA enhancer hs623 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene 11 Neighboring gene small nucleolar RNA, C/D box 13D Neighboring gene long intergenic non-protein coding RNA 926 Neighboring gene long intergenic non-protein coding RNA 1413

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr downregulates the gene expression of TCF12 in human monocyte-derived dendritic cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • 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...
  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear chromatin IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus 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
class B basic helix-loop-helix protein 20
helix-loop-helix transcription factor 4
transcription factor HTF-4

NCBI Reference Sequences (RefSeq)

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_033851.2 RefSeqGene

    Range
    5546..375429
    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/TrEMBL
    F5GY10
    Related
    ENSP00000440017.1, ENST00000543579.5
    Conserved Domains (1) summary
    smart00353
    Location:437490
    HLH; helix loop helix domain
  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
    Related
    ENSP00000444696.1, ENST00000537840.5
    Conserved Domains (2) summary
    smart00353
    Location:347400
    HLH; helix loop helix domain
    pfam10428
    Location:13152
    SOG2; RAM signalling pathway protein
  3. NM_001322151.1NP_001309080.1  transcription factor 12 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Consensus CDS
    CCDS10160.1
    UniProtKB/Swiss-Prot
    Q99081
    UniProtKB/TrEMBL
    A0A024R5Z0
    Conserved Domains (1) summary
    smart00353
    Location:607660
    HLH; helix loop helix domain
  4. NM_001322152.1NP_001309081.1  transcription factor 12 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (2) summary
    smart00353
    Location:606659
    HLH; helix loop helix domain
    pfam09786
    Location:275448
    CytochromB561_N; Cytochrome B561, N terminal
  5. NM_001322154.1NP_001309083.1  transcription factor 12 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (2) summary
    smart00353
    Location:388441
    HLH; helix loop helix domain
    pfam09786
    Location:56229
    CytochromB561_N; Cytochrome B561, N terminal
  6. NM_001322156.1NP_001309085.1  transcription factor 12 isoform h

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (2) summary
    smart00353
    Location:549602
    HLH; helix loop helix domain
    pfam09786
    Location:217390
    CytochromB561_N; Cytochrome B561, N terminal
  7. NM_001322157.1NP_001309086.1  transcription factor 12 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Consensus CDS
    CCDS10159.1
    UniProtKB/Swiss-Prot
    Q99081
    UniProtKB/TrEMBL
    A0A024R5T1
    Conserved Domains (1) summary
    smart00353
    Location:583636
    HLH; helix loop helix domain
  8. NM_001322158.1NP_001309087.1  transcription factor 12 isoform i

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (1) summary
    smart00353
    Location:525578
    HLH; helix loop helix domain
  9. NM_001322159.1NP_001309088.1  transcription factor 12 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Consensus CDS
    CCDS10160.1
    UniProtKB/Swiss-Prot
    Q99081
    UniProtKB/TrEMBL
    A0A024R5Z0
    Related
    ENSP00000453876.1, ENST00000559609.5
    Conserved Domains (1) summary
    smart00353
    Location:607660
    HLH; helix loop helix domain
  10. NM_001322161.1NP_001309090.1  transcription factor 12 isoform k

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (2) summary
    smart00353
    Location:606659
    HLH; helix loop helix domain
    pfam09786
    Location:275447
    CytochromB561_N; Cytochrome B561, N terminal
  11. NM_001322162.1NP_001309091.1  transcription factor 12 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Consensus CDS
    CCDS10160.1
    UniProtKB/Swiss-Prot
    Q99081
    UniProtKB/TrEMBL
    A0A024R5Z0
    Conserved Domains (1) summary
    smart00353
    Location:607660
    HLH; helix loop helix domain
  12. NM_001322164.1NP_001309093.1  transcription factor 12 isoform j

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Conserved Domains (1) summary
    smart00353
    Location:595648
    HLH; helix loop helix domain
  13. NM_001322165.1NP_001309094.1  transcription factor 12 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC010999, AC016525, AC090511, AC090532
    Consensus CDS
    CCDS10159.1
    UniProtKB/Swiss-Prot
    Q99081
    UniProtKB/TrEMBL
    A0A024R5T1
    Conserved Domains (1) summary
    smart00353
    Location:583636
    HLH; helix loop helix domain
  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
    ENSP00000267811.5, ENST00000267811.9
    Conserved Domains (1) summary
    smart00353
    Location:583636
    HLH; helix loop helix domain
  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
    ENSP00000388940.2, ENST00000438423.6
    Conserved Domains (1) summary
    smart00353
    Location:607660
    HLH; helix loop helix domain
  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
    ENSP00000331057.5, ENST00000333725.9
    Conserved Domains (1) summary
    smart00353
    Location:607660
    HLH; helix loop helix domain
  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
    ENSP00000453737.1, ENST00000557843.5
    Conserved Domains (1) summary
    smart00353
    Location:583636
    HLH; helix loop helix domain
  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
    ENSP00000342459.3, ENST00000343827.7
    Conserved Domains (1) summary
    smart00353
    Location:413466
    HLH; helix loop helix domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    56918090..57292595
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521960.3XP_011520262.1  transcription factor 12 isoform X1

    See identical proteins and their annotated locations for XP_011520262.1

    Conserved Domains (2) summary
    smart00353
    Location:619672
    HLH; helix loop helix domain
    pfam09786
    Location:287460
    CytochromB561_N; Cytochrome B561, N terminal
  2. XM_011521959.3XP_011520261.1  transcription factor 12 isoform X1

    See identical proteins and their annotated locations for XP_011520261.1

    Conserved Domains (2) summary
    smart00353
    Location:619672
    HLH; helix loop helix domain
    pfam09786
    Location:287460
    CytochromB561_N; Cytochrome B561, N terminal
  3. XM_011521961.3XP_011520263.1  transcription factor 12 isoform X2

    Conserved Domains (2) summary
    smart00353
    Location:618671
    HLH; helix loop helix domain
    pfam09786
    Location:287460
    CytochromB561_N; Cytochrome B561, N terminal
  4. XM_011521962.3XP_011520264.1  transcription factor 12 isoform X3

    Conserved Domains (1) summary
    smart00353
    Location:595648
    HLH; helix loop helix domain
  5. XM_011521963.3XP_011520265.1  transcription factor 12 isoform X4

    Conserved Domains (1) summary
    smart00353
    Location:594647
    HLH; helix loop helix domain
  6. XM_011521965.2XP_011520267.1  transcription factor 12 isoform X7

    Conserved Domains (2) summary
    smart00353
    Location:391444
    HLH; helix loop helix domain
    pfam09786
    Location:87232
    CytochromB561_N; Cytochrome B561, N terminal
  7. XM_017022520.2XP_016878009.1  transcription factor 12 isoform X5

  8. XM_011521967.2XP_011520269.1  transcription factor 12 isoform X9

    Conserved Domains (1) summary
    smart00353
    Location:367420
    HLH; helix loop helix domain
  9. XM_011521966.2XP_011520268.1  transcription factor 12 isoform X8

    Conserved Domains (2) summary
    smart00353
    Location:371424
    HLH; helix loop helix domain
    pfam09786
    Location:67212
    CytochromB561_N; Cytochrome B561, N terminal
  10. XM_011521969.1XP_011520271.1  transcription factor 12 isoform X6

    Conserved Domains (1) summary
    smart00353
    Location:412465
    HLH; helix loop helix domain
Support Center