Gene

TXNL4A

Species
Homo sapiens
Symbol
TXNL4A
Name
thioredoxin like 4A
Synonyms
  • BMKS
  • DIB1
Biotype
protein coding gene
Automated Description
Involved in mRNA splicing, via spliceosome. Located in cytosol and nucleoplasm. Part of U2-type precatalytic spliceosome and U4/U6 x U5 tri-snRNP complex. Implicated in Burn-McKeown syndrome.
RGD Description
The protein encoded by this gene is a member of the U5 small ribonucleoprotein particle (snRNP), and is involved in pre-mRNA splicing. This protein contains a thioredoxin-like fold and it is expected to interact with multiple proteins. Protein-protein interactions have been observed with the polyglutamine tract-binding protein 1 (PQBP1). Mutations in both the coding region and promoter region of this gene have been associated with Burn-McKeown syndrome, which is a rare disorder characterized by craniofacial dysmorphisms, cardiac defects, hearing loss, and bilateral choanal atresia. A pseudogene of this gene is found on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12052
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            79.98M79.99M80.00M80.01M80.02M80.03M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            TXNL4A molecule type
            Interactor gene
            Interactor species
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              Genetic Interactions

              TXNL4A role
              TXNL4A genetic perturbation
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