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Aliases for TXNL4A Gene

Aliases for TXNL4A Gene

  • Thioredoxin-Like 4A 2 3
  • Spliceosomal U5 SnRNP-Specific 15 KDa Protein 3 4
  • Thioredoxin-Like U5 SnRNP Protein U5-15kD 3 4
  • DIM1 Protein Homolog 3 4
  • Thioredoxin-Like 4 2 3
  • TXNL4 3 4
  • DIM1 3 4
  • Similar To S. Pombe Dim1+ 2
  • SNRNP15 3
  • U5-15kD 3
  • BMKS 3
  • DIB1 3

External Ids for TXNL4A Gene

Previous HGNC Symbols for TXNL4A Gene

  • TXNL4

Previous GeneCards Identifiers for TXNL4A Gene

  • GC18M075833
  • GC18M077732
  • GC18M074354

Summaries for TXNL4A Gene

Entrez Gene Summary for TXNL4A Gene

  • 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]

GeneCards Summary for TXNL4A Gene

TXNL4A (Thioredoxin-Like 4A) is a Protein Coding gene. Diseases associated with TXNL4A include burn-mckeown syndrome and choanal atresia. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. An important paralog of this gene is TXNL4B.

UniProtKB/Swiss-Prot for TXNL4A Gene

  • Essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly.

Gene Wiki entry for TXNL4A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TXNL4A Gene

Genomics for TXNL4A Gene

Regulatory Elements for TXNL4A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TXNL4A Gene

79,970,811 bp from pter
80,033,949 bp from pter
63,139 bases
Minus strand

Genomic View for TXNL4A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for TXNL4A Gene

Proteins for TXNL4A Gene

  • Protein details for TXNL4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Thioredoxin-like protein 4A
    Protein Accession:
    Secondary Accessions:
    • B2RC18
    • O14834

    Protein attributes for TXNL4A Gene

    142 amino acids
    Molecular mass:
    16786 Da
    Quaternary structure:
    • Interacts with HNRPF, HNRPH2, NEDD9, ERBB4, and PQBP1. Component of the U5 snRNP complex. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, NHP2L1, EFTUD2, SART1 and USP39. Directly interacts with CD2BP2.

    Three dimensional structures from OCA and Proteopedia for TXNL4A Gene

neXtProt entry for TXNL4A Gene

Proteomics data for TXNL4A Gene at MOPED

Post-translational modifications for TXNL4A Gene

  • The disulfide bond seen in structures determined by X-ray crystallography (PubMed:10610776) and NMR (PubMed:12911302) is not essential for protein folding and function (PubMed:12911302 and PubMed:17467737).
  • Ubiquitination at Lys 139
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TXNL4A Gene

Domains & Families for TXNL4A Gene

Protein Domains for TXNL4A Gene

Suggested Antigen Peptide Sequences for TXNL4A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DIM1 family.
  • Belongs to the DIM1 family.
genes like me logo Genes that share domains with TXNL4A: view

No data available for Gene Families for TXNL4A Gene

Function for TXNL4A Gene

Molecular function for TXNL4A Gene

UniProtKB/Swiss-Prot Function:
Essential role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly.

Gene Ontology (GO) - Molecular Function for TXNL4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15840814
genes like me logo Genes that share ontologies with TXNL4A: view
genes like me logo Genes that share phenotypes with TXNL4A: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TXNL4A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TXNL4A Gene

Localization for TXNL4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TXNL4A Gene

Subcellular locations from

Jensen Localization Image for TXNL4A Gene COMPARTMENTS Subcellular localization image for TXNL4A gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for TXNL4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex TAS 10610776
GO:0005682 U5 snRNP IBA --
GO:0005737 cytoplasm --
genes like me logo Genes that share ontologies with TXNL4A: view

Pathways & Interactions for TXNL4A Gene

genes like me logo Genes that share pathways with TXNL4A: view

Pathways by source for TXNL4A Gene

1 KEGG pathway for TXNL4A Gene

Gene Ontology (GO) - Biological Process for TXNL4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000245 spliceosomal complex assembly TAS 10610776
GO:0000375 RNA splicing, via transesterification reactions TAS 10610776
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0007067 mitotic nuclear division IEA --
GO:0008380 RNA splicing TAS --
genes like me logo Genes that share ontologies with TXNL4A: view

No data available for SIGNOR curated interactions for TXNL4A Gene

Drugs & Compounds for TXNL4A Gene

No Compound Related Data Available

Transcripts for TXNL4A Gene

Unigene Clusters for TXNL4A Gene

Thioredoxin-like 4A:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TXNL4A

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TXNL4A Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d · 7e
SP1: - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - - -
SP6: - - - - - - -
SP7: - - -
SP9: - - - -
SP10: - - - - - - -
SP11: - - - - -

Relevant External Links for TXNL4A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TXNL4A Gene

mRNA expression in normal human tissues for TXNL4A Gene

Protein differential expression in normal tissues from HIPED for TXNL4A Gene

This gene is overexpressed in Pancreas (9.0) and CD4 Tcells (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TXNL4A Gene

SOURCE GeneReport for Unigene cluster for TXNL4A Gene Hs.465498

genes like me logo Genes that share expression patterns with TXNL4A: view

Protein tissue co-expression partners for TXNL4A Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TXNL4A Gene

Orthologs for TXNL4A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TXNL4A Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TXNL4A 35
  • 91.55 (n)
  • 98.59 (a)
  • 99 (a)
(Canis familiaris)
Mammalia TXNL4A 35
  • 92.25 (n)
  • 99.3 (a)
  • 99 (a)
(Mus musculus)
Mammalia Txnl4a 35
  • 89.91 (n)
  • 100 (a)
Txnl4a 16
Txnl4a 36
  • 100 (a)
(Pan troglodytes)
Mammalia TXNL4A 35
  • 94.99 (n)
  • 94.69 (a)
  • 88 (a)
(Rattus norvegicus)
Mammalia LOC100911462 35
  • 89.91 (n)
  • 100 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 99 (a)
(Ornithorhynchus anatinus)
Mammalia TXNL4A 36
  • 99 (a)
(Gallus gallus)
Aves TXNL4A 35
  • 83.57 (n)
  • 99.3 (a)
-- 36
  • 99 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 99 (a)
-- 36
  • 99 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.47 35
txnl4a 35
  • 81.46 (n)
  • 97.89 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8119 35
(Danio rerio)
Actinopterygii Dr.23353 35
txnl4a 35
  • 81.69 (n)
  • 96.48 (a)
txnl4a 36
  • 97 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11084 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008298 35
  • 81.69 (n)
  • 95.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta Dim1 35
  • 83.33 (n)
  • 95.77 (a)
Dim1 36
  • 96 (a)
(Caenorhabditis elegans)
Secernentea Y54G2A.75 36
  • 87 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL374W 35
  • 71.01 (n)
  • 69.57 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B08910g 35
  • 64.73 (n)
  • 71.01 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIB1 35
  • 60.87 (n)
  • 65.94 (a)
DIB1 36
  • 64 (a)
DIB1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons YLS8 35
  • 75.35 (n)
  • 85.21 (a)
(Glycine max)
eudicotyledons Gma.1488 35
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.8794 35
(Hordeum vulgare)
Liliopsida Hv.3702 35
(Oryza sativa)
Liliopsida Os.12368 35
Os10g0486600 35
  • 77.7 (n)
  • 83.8 (a)
(Zea mays)
Liliopsida Zm.17080 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2538 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08395 35
  • 75.12 (n)
  • 83.1 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dim1 35
  • 65.26 (n)
  • 78.87 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9800 36
  • 89 (a)
Species with no ortholog for TXNL4A:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TXNL4A Gene

Gene Tree for TXNL4A (if available)
Gene Tree for TXNL4A (if available)

Paralogs for TXNL4A Gene

Paralogs for TXNL4A Gene

(1) SIMAP similar genes for TXNL4A Gene using alignment to 7 proteins: Pseudogenes for TXNL4A Gene

genes like me logo Genes that share paralogs with TXNL4A: view

Variants for TXNL4A Gene

Sequence variations from dbSNP and Humsavar for TXNL4A Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs891490 -- 80,027,419(-) tgtgg(G/T)ttggg intron-variant
rs919530 -- 80,002,824(+) GCTTT(C/T)CACTT intron-variant
rs1077510 -- 79,988,659(-) CTACA(C/T)GTTCG upstream-variant-2KB, intron-variant
rs1077511 -- 79,988,525(-) TTGCG(G/T)GTGCG utr-variant-5-prime, intron-variant, nc-transcript-variant
rs1077512 -- 79,988,701(-) GCGCT(C/G)CACGG upstream-variant-2KB, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TXNL4A Gene

Variant ID Type Subtype PubMed ID
nsv428359 CNV Gain 18775914
nsv910009 CNV Loss 21882294
nsv470437 CNV Loss 18288195
nsv910039 CNV Loss 21882294
dgv3492n71 CNV Loss 21882294

Variation tolerance for TXNL4A Gene

Residual Variation Intolerance Score: 43.13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 2.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TXNL4A Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TXNL4A Gene

Disorders for TXNL4A Gene

MalaCards: The human disease database

(4) MalaCards diseases for TXNL4A Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
burn-mckeown syndrome
  • bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance
choanal atresia
  • atresia of nares
acrofacial dysostosis 1, nager type
  • nager acrofacial dysostosis
treacher collins syndrome 1
  • treacher collins syndrome
- elite association


  • Burn-McKeown syndrome (BMKS) [MIM:608572]: A disease characterized by choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears. Intellectual development is normal. {ECO:0000269 PubMed:25434003}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TXNL4A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TXNL4A: view

No data available for Genatlas for TXNL4A Gene

Publications for TXNL4A Gene

  1. The Dim protein family: from structure to splicing. (PMID: 17558560) Simeoni F. … Divita G. (Cell. Mol. Life Sci. 2007) 23 67
  2. The evolutionarily conserved Dim1 protein defines a novel branch of the thioredoxin fold superfamily. (PMID: 11015569) Zhang Y.-Z. … Golemis E.A. (Physiol. Genomics 1999) 2 67
  3. Identification, characterization and crystal structure analysis of the human spliceosomal U5 snRNP-specific 15kD protein. (PMID: 10610776) Reuter K. … Ficner R. (J. Mol. Biol. 1999) 23 67
  4. Overproduction, purification, crystallization and preliminary x-ray diffraction studies of the human spliceosomal protein U5-15kD. (PMID: 10089325) Reuter K. … Ficner R. (Acta Crystallogr. D Biol. Crystallogr. 1999) 23 67
  5. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. (PMID: 25737280) Murn J. … Shi Y. (Genes Dev. 2015) 67

Products for TXNL4A Gene

Sources for TXNL4A Gene

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