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TBX22 T-box transcription factor 22 [ Homo sapiens (human) ]

Gene ID: 50945, updated on 18-Aug-2020

Summary

Official Symbol
TBX22provided by HGNC
Official Full Name
T-box transcription factor 22provided by HGNC
Primary source
HGNC:HGNC:11600
See related
Ensembl:ENSG00000122145 MIM:300307
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
CPX; CLPA; TBXX; ABERS; dJ795G23.1
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 have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it is believed to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 6.4) See more
Orthologs

Genomic context

See TBX22 in Genome Data Viewer
Location:
Xq21.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (80014753..80031774)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (79270255..79287268)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CORO1C pseudogene 1 Neighboring gene uncharacterized LOC105373282 Neighboring gene TBX22 P0 promoter Neighboring gene charged multivesicular body protein 1B2, pseudogene Neighboring gene terminal nucleotidyltransferase 5D

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
Abruzzo-Erickson syndrome
MedGen: C1844862 OMIM: 302905 GeneReviews: Not available
Compare labs
Cleft palate X-linked
MedGen: C1844830 OMIM: 303400 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2016-03-24)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2016-03-24)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

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 
heart looping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
T-box transcription factor TBX22
Names
T-box 22
T-box protein 22

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_008998.1 RefSeqGene

    Range
    4998..22019
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001109878.2NP_001103348.1  T-box transcription factor TBX22 isoform 1

    See identical proteins and their annotated locations for NP_001103348.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AK097514, AL031000, AY035371, DB456367
    Consensus CDS
    CCDS14445.1
    UniProtKB/Swiss-Prot
    Q9Y458
    UniProtKB/TrEMBL
    B3KUL8
    Related
    ENSP00000362393.3, ENST00000373296.8
    Conserved Domains (1) summary
    cd00182
    Location:91287
    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 ...
  2. NM_001109879.2NP_001103349.1  T-box transcription factor TBX22 isoform 2

    See identical proteins and their annotated locations for NP_001103349.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice donor site, and it thus differs in its 5' UTR and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Both variants 3 and 4 encode isoform 2.
    Source sequence(s)
    AK097514, AL031000, AY035371
    UniProtKB/Swiss-Prot
    Q9Y458
    UniProtKB/TrEMBL
    B3KUL8
    Conserved Domains (1) summary
    cd00182
    Location:1167
    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 ...
  3. NM_001303475.1NP_001290404.1  T-box transcription factor TBX22 isoform 2

    See identical proteins and their annotated locations for NP_001290404.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice donor site, and it thus differs in its 5' UTR and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Both variants 3 and 4 encode isoform 2.
    Source sequence(s)
    AF251684, AW104387, AY035371
    UniProtKB/Swiss-Prot
    Q9Y458
    Related
    ENST00000626877.1
    Conserved Domains (1) summary
    cd00182
    Location:1167
    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 ...
  4. NM_016954.2NP_058650.1  T-box transcription factor TBX22 isoform 1

    See identical proteins and their annotated locations for NP_058650.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AY035371, BC014194
    Consensus CDS
    CCDS14445.1
    UniProtKB/Swiss-Prot
    Q9Y458
    Related
    ENSP00000362390.5, ENST00000373294.8
    Conserved Domains (1) summary
    cd00182
    Location:91287
    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 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    80014753..80031774
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187635.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    65309..82330 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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