TCF21 transcription factor 21 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TCF21provided by HGNC
Official Full Name: transcription factor 21provided by HGNC
Primary source: HGNC:HGNC:11632
See related: Ensembl:ENSG00000118526 MIM:603306; AllianceGenome:HGNC:11632
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: POD1; bHLHa23
Summary: TCF21 encodes a transcription factor of the basic helix-loop-helix family. The TCF21 product is mesoderm specific, and expressed in embryonic epicardium, mesenchyme-derived tissues of lung, gut, gonad, and both mesenchymal and glomerular epithelial cells in the kidney. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in placenta (RPKM 32.6), spleen (RPKM 25.0) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q23.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (133889113..133895537)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (135077847..135084271)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (134210251..134216675)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transcription factor 21 rs12190287 polymorphism is related to stable angina and ST elevation myocardial infarction in a Chinese Population.
Title: Transcription factor 21 rs12190287 polymorphism is related to stable angina and ST elevation myocardial infarction in a Chinese Population.
TCF21 rs2327429 and TCF21 rs12190287 are associated with colorectal cancer in a Chinese population.
Title: TCF21 rs2327429 and TCF21 rs12190287 are associated with colorectal cancer in a Chinese population.
Transcription factor 21 gene and prognosis in a coronary population.
Title: Transcription factor 21 gene and prognosis in a coronary population.
Transcription factor 21 accelerates vascular calcification in mice by activating the IL-6/STAT3 signaling pathway and the interplay between VSMCs and ECs.
Title: Transcription factor 21 accelerates vascular calcification in mice by activating the IL-6/STAT3 signaling pathway and the interplay between VSMCs and ECs.
N-type calcium channel v2.2 is a target of TCF21 in adrenocortical carcinomas.
Title: N-type calcium channel v2.2 is a target of TCF21 in adrenocortical carcinomas.
Immunohistological score of transcription factor 21 had a positive correlation with its urinary excretion and proteinuria in immunoglobulin A nephropathy.
Title: Immunohistological score of transcription factor 21 had a positive correlation with its urinary excretion and proteinuria in immunoglobulin A nephropathy.
Relationships among Immune Score, <em>TCF21</em> Methylation, Risk-factor Level, and Prognosis in Prostate Cancer.
Title: Relationships among Immune Score, <em>TCF21</em> Methylation, Risk-factor Level, and Prognosis in Prostate Cancer.
Increased SUMOylation of TCF21 improves its stability and function in human endometriotic stromal cellsdagger.
Title: Increased SUMOylation of TCF21 improves its stability and function in human endometriotic stromal cells†.
TCF21 regulates miR-10a-5p/LIN28B signaling to block the proliferation and invasion of melanoma cells.
Title: TCF21 regulates miR-10a-5p/LIN28B signaling to block the proliferation and invasion of melanoma cells.
Studies on the Role of the Transcription Factor Tcf21 in the Transdifferentiation of Parietal Epithelial Cells into Podocyte-Like Cells.
Title: Studies on the Role of the Transcription Factor Tcf21 in the Transdifferentiation of Parietal Epithelial Cells into Podocyte-Like Cells.

Submit: New GeneRIF Correction See all GeneRIFs (53)

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

EBI GWAS Catalog

Description
Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

WI-11855 (e-PCR)
- UniSTS:58216

D6S2181 (e-PCR)
- UniSTS:43682

D6S2117 (e-PCR)
- UniSTS:58048

TCF21_2018 (e-PCR)
- UniSTS:281048

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity 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 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 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	IPI Inferred from Physical Interaction more info	PubMed
enables bHLH transcription factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables histone deacetylase binding	IEA Inferred from Electronic Annotation more info
enables nuclear androgen receptor binding	ISS Inferred from Sequence or Structural Similarity 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 Sertoli cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in branching involved in ureteric bud morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in branchiomeric skeletal muscle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in bronchiole development	ISS Inferred from Sequence or Structural Similarity more info
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
involved_in diaphragm development	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic digestive tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in gland development	ISS Inferred from Sequence or Structural Similarity more info
involved_in glomerulus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in kidney development	ISS Inferred from Sequence or Structural Similarity more info
involved_in lung alveolus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in lung morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in lung vasculature development	ISS Inferred from Sequence or Structural Similarity more info
involved_in metanephric glomerular capillary formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in metanephric mesenchymal cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in morphogenesis of a branching structure	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of androgen receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in reproductive structure development	ISS Inferred from Sequence or Structural Similarity more info
involved_in respiratory system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in roof of mouth development	ISS Inferred from Sequence or Structural Similarity more info
involved_in sex determination	ISS Inferred from Sequence or Structural Similarity more info
involved_in spleen development	ISS Inferred from Sequence or Structural Similarity more info
involved_in ureteric bud development	ISS Inferred from Sequence or Structural Similarity more info
involved_in vasculature development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transcription factor 21

Names: capsulin; class A basic helix-loop-helix protein 23; epicardin; pod-1; podocyte-expressed 1

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

NG_032121.1 RefSeqGene

Range

5001..11417

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_446

mRNA and Protein(s)

NM_003206.4 → NP_003197.2 transcription factor 21

See identical proteins and their annotated locations for NP_003197.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AF035718, AL356109, BU688835

Consensus CDS

CCDS5167.1

UniProtKB/Swiss-Prot

E1P581, O43545, O43680, Q6ICV0, Q9BZ14

Related

ENSP00000356857.5, ENST00000367882.5

Conserved Domains (1) summary

cd19704
Location:77 → 140

bHLH_TS_TCF21_capsulin; basic helix-loop-helix (bHLH) domain found in transcription factor 21 (TCF-21) and similar proteins
NM_198392.3 → NP_938206.1 transcription factor 21

See identical proteins and their annotated locations for NP_938206.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AL356109, AL550251, BC025697

Consensus CDS

CCDS5167.1

UniProtKB/Swiss-Prot

E1P581, O43545, O43680, Q6ICV0, Q9BZ14

Related

ENSP00000237316.3, ENST00000237316.3

Conserved Domains (1) summary

cd19704
Location:77 → 140

bHLH_TS_TCF21_capsulin; basic helix-loop-helix (bHLH) domain found in transcription factor 21 (TCF-21) and similar proteins