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TCF21 transcription factor 21 [ Homo sapiens (human) ]

Gene ID: 6943, updated on 25-Nov-2021

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
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
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Genomic context

See TCF21 in Genome Data Viewer
Location:
6q23.2
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (133889113..133895537)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (134210251..134216675)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene TCF21 antisense RNA inducing promoter demethylation Neighboring gene GATA motif-containing MPRA enhancer 179 Neighboring gene long intergenic non-protein coding RNA 1312 Neighboring gene TATA-box binding protein like 1 Neighboring gene epithelial splicing regulatory protein 1 pseudogene Neighboring gene solute carrier family 2 member 12

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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
PubMed 
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
PubMed 
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
located_in chromatin ISA
Inferred from Sequence Alignment
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

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

  1. NG_032121.1 RefSeqGene

    Range
    5001..11417
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_446

mRNA and Protein(s)

  1. NM_003206.4NP_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
    O43680
    Related
    ENSP00000356857.5, ENST00000367882.5
    Conserved Domains (1) summary
    cd19704
    Location:77140
    bHLH_TS_TCF21_capsulin; basic helix-loop-helix (bHLH) domain found in transcription factor 21 (TCF-21) and similar proteins
  2. NM_198392.3NP_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
    O43680
    Related
    ENSP00000237316.3, ENST00000237316.3
    Conserved Domains (1) summary
    cd19704
    Location:77140
    bHLH_TS_TCF21_capsulin; basic helix-loop-helix (bHLH) domain found in transcription factor 21 (TCF-21) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    133889113..133895537
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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