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

Gene ID: 9095, updated on 11-Jun-2021

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
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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (168280877..168314426)
105.20201022 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 Sharpr-MPRA regulatory region 6776 Neighboring gene dynactin subunit 5 pseudogene

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: SFT2D2

Homology

Clone Names

  • FLJ26302, FLJ34085, FLJ34543

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in heart morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mesoderm formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in pituitary gland development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell population proliferation 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
PubMed 
involved_in somitogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

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
    UniProtKB/TrEMBL
    B3KRD9
    Related
    ENSP00000356795.3, ENST00000367821.8
    Conserved Domains (1) summary
    pfam00907
    Location:43218
    T-box; T-box

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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