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TCF21 transcription factor 21 [ Homo sapiens (human) ]

Gene ID: 6943, updated on 21-Oct-2018

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; Vega:OTTHUMG00000015608
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

Genomic context

See TCF21 in Genome Data Viewer
Location:
6q23.2
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (133889121..133895537)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (134210259..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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
PubMed 
E-box binding ISS
Inferred from Sequence or Structural Similarity
more info
 
androgen receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone deacetylase binding IEA
Inferred from Electronic Annotation
more info
 
protein dimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Sertoli cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
branching involved in ureteric bud morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
branchiomeric skeletal muscle development ISS
Inferred from Sequence or Structural Similarity
more info
 
bronchiole development ISS
Inferred from Sequence or Structural Similarity
more info
 
diaphragm development ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic digestive tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
gland development ISS
Inferred from Sequence or Structural Similarity
more info
 
glomerulus development ISS
Inferred from Sequence or Structural Similarity
more info
 
kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
lung alveolus development ISS
Inferred from Sequence or Structural Similarity
more info
 
lung morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
lung vasculature development ISS
Inferred from Sequence or Structural Similarity
more info
 
metanephric glomerular capillary formation ISS
Inferred from Sequence or Structural Similarity
more info
 
metanephric mesenchymal cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
morphogenesis of a branching structure ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of androgen receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
reproductive structure development ISS
Inferred from Sequence or Structural Similarity
more info
 
respiratory system development ISS
Inferred from Sequence or Structural Similarity
more info
 
roof of mouth development ISS
Inferred from Sequence or Structural Similarity
more info
 
sex determination ISS
Inferred from Sequence or Structural Similarity
more info
 
spleen development ISS
Inferred from Sequence or Structural Similarity
more info
 
ureteric bud development ISS
Inferred from Sequence or Structural Similarity
more info
 
vasculature development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

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)

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_003206.3NP_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
    ENSP00000356857.4, OTTHUMP00000017238, ENST00000367882.4, OTTHUMT00000042292
    Conserved Domains (1) summary
    pfam00010
    Location:80132
    HLH; Helix-loop-helix DNA-binding domain
  2. NM_198392.2NP_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, OTTHUMP00000017239, ENST00000237316.3, OTTHUMT00000042293
    Conserved Domains (1) summary
    pfam00010
    Location:80132
    HLH; Helix-loop-helix DNA-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    133889121..133895537
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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