TSR2 TSR2 ribosome maturation factor

Gene ID: 90121, updated on 19-Sep-2024
Gene type: protein coding
Also known as: WGG1; DBA14; DT1P1A10

Summary

The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, Oct 2016]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis MedGen: C4225422OMIM: 300946GeneReviews: Diamond-Blackfan Anemia	See labs

Genomic context

Location:: Xp11.22

Sequence:: Chromosome: X; NC_000023.11 (54440404..54448032)

Total number of exons:: 5

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for TSR2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.