TCF15 transcription factor 15 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TCF15provided by HGNC
Official Full Name: transcription factor 15provided by HGNC
Primary source: HGNC:HGNC:11627
See related: Ensembl:ENSG00000125878 MIM:601010; AllianceGenome:HGNC:11627
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: EC2; PARAXIS; bHLHa40
Summary: The protein encoded by this gene is found in the nucleus and may be involved in the early transcriptional regulation of patterning of the mesoderm. The encoded basic helix-loop-helix protein requires dimerization with another basic helix-loop-helix protein for efficient DNA binding. [provided by RefSeq, Jul 2008]
Expression: Biased expression in fat (RPKM 5.9), heart (RPKM 2.3) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20p13

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (604257..610309, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (647994..654046, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (584901..590953, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic variation in MEOX2, but not TCF15, is a strong predictor of CHD. Further experimental studies should elucidate the underlying molecular mechanisms.
Title: Coronary risk in relation to genetic variation in MEOX2 and TCF15 in a Flemish population.
Microarray profiling on freshly isolated ECs had a genetic signature for microvascular heart ECs and identified Meox2/Tcf15 heterodimers as novel transcriptional determinants. This signature was similar in skeletal muscle and adipose tissue endothelium.
Title: Meox2/Tcf15 heterodimers program the heart capillary endothelium for cardiac fatty acid uptake.
Activation of TGFbeta recruits p300 to the KLF5-Smad complex to acetylate KLF5, and the complex with acetylated KLF5 binds to the Smad binding element and alters the binding of other factors to p15 promoter to induce its transcription
Title: Acetylation of KLF5 alters the assembly of p15 transcription factors in transforming growth factor-beta-mediated induction in epithelial cells.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-U08336 (e-PCR)
- UniSTS:43865

NoName (e-PCR)
- UniSTS:481140

WI-7360 (e-PCR)
- UniSTS:49105

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	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 factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables E-box binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables bHLH transcription factor binding	IEA Inferred from Electronic Annotation more info
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ear development	IEA Inferred from Electronic Annotation more info
involved_in establishment of epithelial cell apical/basal polarity	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal to epithelial transition	IEA Inferred from Electronic Annotation more info
involved_in mesoderm development	TAS Traceable Author Statement more info	PubMed
involved_in muscle organ morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of hematopoietic stem cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuromuscular process controlling posture	IEA Inferred from Electronic Annotation more info
involved_in paraxial mesoderm development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of stem cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in post-anal tail morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in respiratory system process	IEA Inferred from Electronic Annotation more info
involved_in skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in somitogenesis	IEA Inferred from Electronic Annotation more info
involved_in stem cell population maintenance	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IEA Inferred from Electronic Annotation more info
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: transcription factor 15

Names: TCF-15; basic helix-loop-helix transcription factor 15; class A basic helix-loop-helix protein 40; protein bHLH-EC2; transcription factor 15 (basic helix-loop-helix)

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.

mRNA and Protein(s)

NM_004609.4 → NP_004600.3 transcription factor 15

Status: REVIEWED

Source sequence(s)

AL133231

Consensus CDS

CCDS33432.1

UniProtKB/Swiss-Prot

Q12870, Q9NQQ1

UniProtKB/TrEMBL

A4LBB6

Related

ENSP00000246080.3, ENST00000246080.4

Conserved Domains (1) summary

cd11470
Location:66 → 131

bHLH_TS_TCF15_paraxis; basic helix-loop-helix (bHLH) domain found in transcription factor 15 (TCF-15) and similar proteins