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TBX19 T-box transcription factor 19 [ Homo sapiens (human) ]

Gene ID: 9095, updated on 27-Nov-2024

Summary

Official Symbol
TBX19provided by HGNC
Official Full Name
T-box transcription factor 19provided by HGNC
Primary source
HGNC:HGNC:11596
See related
Ensembl:ENSG00000143178 MIM:604614; AllianceGenome:HGNC:11596
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
TPIT; TBS19; dJ747L4.1
Summary
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in endometrium (RPKM 1.9), spleen (RPKM 1.2) and 24 other tissues See more
Orthologs
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Genomic context

See TBX19 in Genome Data Viewer
Location:
1q24.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (168280877..168314426)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (167632365..167665914)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (168250115..168283664)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SFT2 domain containing 2 Neighboring gene ankyrin repeat domain 36B pseudogene 1 Neighboring gene RNA, U6 small nuclear 1310, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:168239605-168240105 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:168254423-168254924 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:168260049-168260620 Neighboring gene Sharpr-MPRA regulatory region 6776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:168323282-168323928 Neighboring gene Sharpr-MPRA regulatory region 2596 Neighboring gene dynactin subunit 5 pseudogene Neighboring gene microRNA 557

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
Congenital isolated adrenocorticotropic hormone deficiency
MedGen: C0342388 OMIM: 201400 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

General gene information

Potential readthrough

Included gene: SFT2D2

Clone Names

  • FLJ26302, FLJ34085, FLJ34543

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure morphogenesis PubMed 
involved_in cell fate specification  
involved_in heart morphogenesis  
involved_in mesoderm formation  
involved_in pituitary gland development  
involved_in positive regulation of transcription by RNA polymerase II  
involved_in regulation of cell differentiation  
involved_in regulation of cell population proliferation  
involved_in regulation of transcription by RNA polymerase II  
Component Evidence Code Pubs
located_in chromatin  
located_in chromatin  
is_active_in nucleus  

General protein information

Preferred Names
T-box transcription factor TBX19
Names
T-box 19
T-box factor, pituitary
T-box protein 19
TBS 19

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_008244.1 RefSeqGene

    Range
    4838..38387
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005149.3NP_005140.1  T-box transcription factor TBX19

    See identical proteins and their annotated locations for NP_005140.1

    Status: REVIEWED

    Source sequence(s)
    AJ010277, AK091404, AL009051
    Consensus CDS
    CCDS1272.1
    UniProtKB/Swiss-Prot
    O60806, Q52M53
    Related
    ENSP00000356795.3, ENST00000367821.8
    Conserved Domains (1) summary
    pfam00907
    Location:43218
    T-box; T-box

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    168280877..168314426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    167632365..167665914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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