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TBX18 T-box transcription factor 18 [ Homo sapiens (human) ]

Gene ID: 9096, updated on 25-Apr-2020

Summary

Official Symbol
TBX18provided by HGNC
Official Full Name
T-box transcription factor 18provided by HGNC
Primary source
HGNC:HGNC:11595
See related
Ensembl:ENSG00000112837 MIM:604613
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
CAKUT2
Summary
This genes codes for a member of an evolutionarily conserved family of transcription factors that plays a crucial role in embryonic development. The family is characterized by the presence of the DNA-binding T-box domain and is divided into five sub-families based on sequence conservation in this domain. The encoded protein belongs to the vertebrate specific Tbx1 sub-family. The protein acts as a transcriptional repressor by antagonizing transcriptional activators in the T-box family. The protein forms homo- or heterodimers with other transcription factors of the T-box family or other transcription factors. [provided by RefSeq, Nov 2012]
Expression
Broad expression in fat (RPKM 1.9), skin (RPKM 1.3) and 17 other tissues See more
Orthologs

Genomic context

See TBX18 in Genome Data Viewer
Location:
6q14.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (84666810..84764598, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (85442214..85473954, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986620 Neighboring gene uncharacterized LOC107986619 Neighboring gene long intergenic non-protein coding RNA 1611 Neighboring gene SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 2 Neighboring gene TBX18 antisense RNA 1 Neighboring gene uncharacterized LOC105377881 Neighboring gene hormonally up-regulated Neu-associated kinase 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?

Phenotypes

Associated conditions

Description Tests
Congenital anomalies of kidney and urinary tract type 2
MedGen: C1840451 OMIM: 143400 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study for diabetic retinopathy in a Japanese population: potential association with a long intergenic non-coding RNA.
NHGRI GWA Catalog

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell fate specification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
morphogenesis of embryonic epithelium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
somitogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ureter development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
T-box transcription factor TBX18
Names
T-box 18
T-box protein 18

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_046956.1 RefSeqGene

    Range
    5133..37235
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001080508.3NP_001073977.1  T-box transcription factor TBX18

    See identical proteins and their annotated locations for NP_001073977.1

    Status: REVIEWED

    Source sequence(s)
    AL035694, BC132715, BC157841
    Consensus CDS
    CCDS34495.1
    UniProtKB/Swiss-Prot
    O95935
    Related
    ENSP00000358677.4, ENST00000369663.10
    Conserved Domains (1) summary
    cd00182
    Location:139334
    TBOX; T-box DNA binding domain of the T-box family of transcriptional regulators. The T-box family is an ancient group that appears to play a critical role in development in all animal species. These genes were uncovered on the basis of similarity to the DNA ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    84666810..84764598 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011473.2XP_016866962.1  T-box transcription factor TBX18 isoform X4

  2. XM_011536247.2XP_011534549.2  T-box transcription factor TBX18 isoform X2

  3. XM_006715602.3XP_006715665.2  T-box transcription factor TBX18 isoform X6

  4. XM_011536249.2XP_011534551.2  T-box transcription factor TBX18 isoform X5

  5. XM_011536248.2XP_011534550.2  T-box transcription factor TBX18 isoform X3

  6. XM_017011472.1XP_016866961.1  T-box transcription factor TBX18 isoform X1

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