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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 ... See more...
Aliases for TXNL4A Gene
Aliases for TXNL4A Gene
External Ids for TXNL4A Gene
- HGNC: 30551
- Entrez Gene: 10907
- Ensembl: ENSG00000141759
- OMIM: 611595
- UniProtKB: P83876
Previous HGNC Symbols for TXNL4A Gene
- TXNL4
Previous GeneCards Identifiers for TXNL4A Gene
- GC18M075833
- GC18M077732
- GC18M074354
Summaries 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 Renpenning Syndrome 1. Among its related pathways are mRNA Splicing - Minor Pathway and Gene Expression. An important paralog of this gene is TXNL4B.
UniProtKB/Swiss-Prot Summary for TXNL4A Gene
-
Plays role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex).
Additional gene information for TXNL4A Gene
- HGNC(30551)
- Entrez Gene(10907)
- Ensembl(ENSG00000141759)
- OMIM(611595)
- UniProtKB(P83876)
- Open Targets Platform(ENSG00000141759)
- Monarch Initiative
- Search for TXNL4A at DataMed
- Search for TXNL4A at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TXNL4A Gene
Genomics for TXNL4A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TXNL4A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TXNL4A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TXNL4A
- Top Transcription factor binding sites by QIAGEN in the TXNL4A gene promoter:
-
- CREB
- deltaCREB
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
- Pax-2
- Pax-2a
- Pax-4a
Genomic Locations for TXNL4A Gene
Genomic Locations for TXNL4A Gene
- chr18:79,970,813-80,033,949
- (GRCh38/hg38)
- Size:
- 63,137 bases
- Orientation:
- Minus strand
- chr18:77,732,867-77,793,949
- (GRCh37/hg19)
- Size:
- 61,083 bases
- Orientation:
- Minus strand
Genomic View for TXNL4A Gene
Genes around TXNL4A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q23 by HGNC
- 18q23 by Entrez Gene
- 18q23 by Ensembl
TXNL4A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TXNL4A Gene
Proteins for TXNL4A Gene
-
Protein details for TXNL4A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P83876-TXN4A_HUMAN
- Recommended name:
- Thioredoxin-like protein 4A
- Protein Accession:
- P83876
- B2RC18
- O14834
Protein attributes for TXNL4A Gene
- Size:
- 142 amino acids
- Molecular mass:
- 16786 Da
- Quaternary structure:
-
- Component of the precatalytic spliceosome (spliceosome B complex) (PubMed:28781166). Component of the U5 snRNP complex (PubMed:10610776). Component of the U4/U6-U5 tri-snRNP complex (PubMed:26912367). The U4/U6-U5 tri-snRNP complex is a building block of the precatalytic spliceosome (spliceosome B complex) (PubMed:26912367, PubMed:28781166). The U4/U6-U5 tri-snRNP complex is composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, SNRPG, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, plus LSM2, LSM3, LSM4, LSM5, LSM6, LSM7 and LSM8 (PubMed:16723661, PubMed:26912367, PubMed:28781166). Directly interacts with CD2BP2 (PubMed:17467737, PubMed:24781215). Interacts with HNRPF, HNRPH2, NEDD9 and PQBP1 (PubMed:11054566). Interacts with ERBB4 (PubMed:20858735).
Protein Expression for TXNL4A Gene
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 Lys134 and Lys139
- NX_P83876 (NX_P83876-1)
- Modification sites at PhosphoSitePlus
Other Protein References for TXNL4A Gene
Antibody Products
- Creative Diagnostics Anti-TXNL4A polyclonal antibody
- Creative Biolabs Recombinant Mouse anti-Human TXNL4A Monoclonal antibody (EML1156)
- Novus Biologicals Antibodies for TXNL4A
- Invitrogen Antibodies for TXNL4A (AFLGC-TXNL4A)
-
Boster Bio Antibodies for TXNL4A
-
Santa Cruz Biotechnology (SCBT) Antibodies for TXNL4A
- Sino Biological Antibodies for TXNL4A
Protein Products
- Creative Biomart Recombinant Human Thioredoxin-like 4A, His-tagged
-
OriGene Purified Proteins for TXNL4A
- Search Origene for MassSpec and Protein Over-expression Lysates for TXNL4A
- Origene Custom Protein Services for TXNL4A
- Sino Biological Recombinant Proteins for TXNL4A
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for TXNL4A
-
Abcam proteins for TXNL4A
No data available for DME Specific Peptides for TXNL4A Gene
Domains & Families for TXNL4A Gene
Gene Families for TXNL4A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for TXNL4A Gene
- InterPro:
- Blocks:
-
- Pre-mRNA splicing protein
- ProtoNet:
Suggested Antigen Peptide Sequences for TXNL4A Gene
- GenScript: Design optimal peptide antigens:
-
- Thioredoxin-like U5 snRNP protein U5-15kD (TXN4A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P83876- Family:
-
- Belongs to the DIM1 family.
Function for TXNL4A Gene
Molecular function for TXNL4A Gene
- UniProtKB/Swiss-Prot Function:
- Plays role in pre-mRNA splicing as component of the U5 snRNP and U4/U6-U5 tri-snRNP complexes that are involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex).
Phenotypes From GWAS Catalog for TXNL4A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 15840814 |
Phenotypes for TXNL4A Gene
- GenomeRNAi human phenotypes for TXNL4A:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- Increased shRNA abundance (Z-score > 2)
- Synthetic lethal with Ras
- Increased ionizing radiation sensitivity
- Decreased influenza A/WSN/33 replication
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased viability in ovarian lineage
- Two nuclei (binuclear)
Animal Model Products
-
Taconic Biosciences Mouse Models for TXNL4A
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TXNL4A - Select products 50% OFF >
- * TXNL4A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TXNL4A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TXNL4A
-
Santa Cruz Biotechnology (SCBT) CRISPR for TXNL4A
miRNA for TXNL4A Gene
- miRTarBase miRNAs that target TXNL4A
-
- hsa-miR-1301-3p (MIRT036005)
- hsa-miR-193b-3p (MIRT041224)
- hsa-miR-23a-3p (MIRT050419)
- hsa-let-7b-5p (MIRT052139)
- mmu-miR-344c-3p (MIRT596815)
- mmu-miR-344-3p (MIRT596816)
- mmu-miR-337-3p (MIRT596817)
- mmu-miR-207 (MIRT596818)
- hsa-miR-670-3p (MIRT712643)
- hsa-miR-6886-3p (MIRT712644)
- hsa-miR-938 (MIRT712645)
- hsa-miR-18a-3p (MIRT712646)
- hsa-miR-3667-3p (MIRT712647)
- hsa-miR-6752-3p (MIRT712648)
- hsa-miR-3614-3p (MIRT766023)
- hsa-miR-3622a-5p (MIRT766138)
- hsa-miR-3691-3p (MIRT767124)
- hsa-miR-4269 (MIRT768241)
- hsa-miR-4297 (MIRT768478)
- hsa-miR-4438 (MIRT769141)
- hsa-miR-5089-5p (MIRT773251)
- hsa-miR-5095 (MIRT773294)
- hsa-miR-5581-5p (MIRT774709)
- hsa-miR-562 (MIRT774911)
- hsa-miR-5697 (MIRT775131)
- hsa-miR-619-5p (MIRT776063)
- hsa-miR-6504-3p (MIRT776589)
- hsa-miR-6506-5p (MIRT776613)
- hsa-miR-6715b-5p (MIRT777695)
- hsa-miR-7151-3p (MIRT781525)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TXNL4A
- Browse OriGene Inhibitory RNA Products For TXNL4A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TXNL4A
Clone Products
- Applied Biological Materials (abm): Clones for TXNL4A - Select products 50% OFF >
- * TXNL4A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG200918
- MG202512
- MG216547
- MG216558
- MG218050
- MR200918
- MR200918L3
- MR200918L4
- MR202512
- MR202512L3
- MR202512L4
- MR216547
- MR216547L3
- MR216547L4
- MR216558
- MR216558L3
- MR216558L4
- MR218050
- MR218050L3
- MR218050L4
- RC200266
- RC200266L3
- RC200266L4
- RG200266
- MR200918L3V
- MR200918L4V
- MR202512L3V
- MR202512L4V
- MR216547L3V
- MR216547L4V
- MR216558L3V
- MR216558L4V
- MR218050L3V
- MR218050L4V
- RC200266L3V
- RC200266L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TXNL4A
- Addgene plasmids for TXNL4A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TXNL4A
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
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
- Cytosol (2)
- Nuclear membrane (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 26912367 |
| GO:0005654 | nucleoplasm | IDA,TAS | -- |
| GO:0005681 | spliceosomal complex | TAS | 10610776 |
| GO:0005682 | U5 snRNP | IBA | 21873635 |
| GO:0005737 | cytoplasm | IDA | -- |
Pathways & Interactions for TXNL4A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | mRNA Splicing - Major Pathway |
.79
|
.47
.41
|
| 2 | Gene Expression |
.48
|
|
| 3 | mRNA Splicing - Minor Pathway | ||
Pathways by source for TXNL4A Gene
1 BioSystems pathway for TXNL4A Gene
5 Reactome pathways for TXNL4A Gene
1 KEGG pathway for TXNL4A Gene
Interacting Proteins for TXNL4A Gene
Selected Interacting proteins:
P83876-TXN4A_HUMAN
ENSP00000269601
for TXNL4A Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TXNL4A
| 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 | IEA,TAS | -- |
| GO:0006397 | mRNA processing | IEA | -- |
| GO:0007049 | cell cycle | IEA | -- |
No data available for SIGNOR curated interactions for TXNL4A Gene
Drugs & Compounds for TXNL4A Gene
No Compound Related Data Available
Drug Products
- Creative Biomart Recombinant Human Thioredoxin-like 4A, His-tagged
Transcripts for TXNL4A Gene
mRNA/cDNA for TXNL4A Gene
- 5 REFSEQ mRNAs :
- 18 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000269601 3472 nts (view in UCSC)
- ENST00000355491 803 nts (view in UCSC)
- ENST00000585474 1185 nts (view in UCSC)
- ENST00000585769 988 nts (view in UCSC)
- ENST00000586295 706 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TXNL4A - Select products 50% OFF >
- * TXNL4A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TXNL4A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TXNL4A
-
Santa Cruz Biotechnology (SCBT) CRISPR for TXNL4A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TXNL4A
- Browse OriGene Inhibitory RNA Products For TXNL4A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TXNL4A
Clone Products
- Applied Biological Materials (abm): Clones for TXNL4A - Select products 50% OFF >
- * TXNL4A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG200918
- MG202512
- MG216547
- MG216558
- MG218050
- MR200918
- MR200918L3
- MR200918L4
- MR202512
- MR202512L3
- MR202512L4
- MR216547
- MR216547L3
- MR216547L4
- MR216558
- MR216558L3
- MR216558L4
- MR218050
- MR218050L3
- MR218050L4
- RC200266
- RC200266L3
- RC200266L4
- RG200266
- MR200918L3V
- MR200918L4V
- MR202512L3V
- MR202512L4V
- MR216547L3V
- MR216547L4V
- MR216558L3V
- MR216558L4V
- MR218050L3V
- MR218050L4V
- RC200266L3V
- RC200266L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for TXNL4A
- Addgene plasmids for TXNL4A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TXNL4A
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||||||
| SP4: | - | - | - | - | |||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | |||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | ||||||||||||||||||||||
| SP7: | - | - | - | ||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||
| SP9: | - | - | - | - | |||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | ||||||||||||||||||||||
| SP11: | - | - | - | - | - |
Relevant External Links for TXNL4A Gene
- GeneLoc Exon Structure for
- TXNL4A
Expression 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, MaxQB, and MOPED for TXNL4A Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TXNL4A
SOURCE GeneReport for Unigene cluster for TXNL4A Gene:
Hs.465498Evidence on tissue expression from TISSUES for TXNL4A Gene
- Nervous system(4.7)
- Liver(4.6)
- Lung(4.3)
- Skin(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TXNL4A Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- chin
- ear
- eye
- eyelid
- face
- head
- jaw
- lip
- mandible
- maxilla
- middle ear
- mouth
- nose
- outer ear
- pharynx
- skull
- tooth
Thorax:
- heart
- heart valve
- lung
Abdomen:
- kidney
Limb:
- foot
- lower limb
- toe
General:
- blood vessel
- skin
Primer Products
-
OriGene qPCR primer pairs for TXNL4A
-
OriGene qPCR primer pairs and template standards for TXNL4A
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TXNL4A 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
| Chimpanzee (Pan troglodytes) |
Mammalia | TXNL4A 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TXNL4A 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TXNL4A 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Txnl4a 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | LOC100911462 30 |
|
||
| Chicken (Gallus gallus) |
Aves | -- 31 |
|
ManyToMany | |
| TXNL4A 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | txnl4a 30 |
|
||
| Str.47 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.8119 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | txnl4a 30 31 |
|
ManyToMany | |
| Dr.23353 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11084 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Dim1 30 31 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008298 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | Y54G2A.75 31 |
|
OneToMany | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL374W 30 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B08910g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DIB1 30 31 33 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | YLS8 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.8794 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.1488 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os10g0486600 30 |
|
||
| Os.12368 30 |
|
||||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.3702 30 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.17080 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9800 31 |
|
OneToMany | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU08395 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | dim1 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2538 30 |
|
- Species where no ortholog for TXNL4A was found in the sources mined by GeneCards:
-
- 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
- ENSEMBL:
- Gene Tree for TXNL4A (if available)
- TreeFam:
- Gene Tree for TXNL4A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TXNL4A: view image
Paralogs for TXNL4A Gene
(1) SIMAP similar genes for TXNL4A Gene using alignment to 7 proteins:
- TXN4A_HUMAN
- K7EJU2_HUMAN
- K7EMX5_HUMAN
- K7EPA6_HUMAN
- K7ES07_HUMAN
- K7ESL1_HUMAN
- O14835_HUMAN
Pseudogenes.org Pseudogenes for TXNL4A Gene
Variants for TXNL4A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TXNL4A Gene
| SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 253188 | Pathogenic: Burn-McKeown syndrome | 79,976,959(-) | GTTTTTGATTTTTTTT | SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT,INITIATIOR_CODON_VARIANT | |
| 722554 | Benign: not provided | 79,973,691(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| rs1257114490 | Uncertain Significance: not provided | 79,988,370(-) | A/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
| rs1555719172 | Likely Pathogenic: not provided | 79,988,282(-) | CGTAGGATCCCAGTCG | FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
| rs535089924 | Pathogenic: Burn-McKeown syndrome | 79,988,580(-) | ACGCCGTGCGTGCTGA | INTRON_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3412n100 | CNV | gain | 25217958 |
| esv3643326 | CNV | loss | 21293372 |
| nsv1060141 | CNV | gain | 25217958 |
| nsv1061450 | CNV | gain | 25217958 |
| nsv1065902 | CNV | gain | 25217958 |
| nsv428359 | CNV | gain | 18775914 |
| nsv470437 | CNV | loss | 18288195 |
| nsv577953 | CNV | loss | 21841781 |
| nsv577958 | CNV | gain | 21841781 |
Residual Variation Intolerance Score:
43.1% 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)
Additional Variant Information for TXNL4A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TXNL4A Gene
Disorders for TXNL4A Gene
(11) MalaCards diseases for TXNL4A Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| burn-mckeown syndrome |
|
|
| renpenning syndrome 1 |
|
|
| mandibulofacial dysostosis, guion-almeida type |
|
|
| leukodystrophy, hypomyelinating, 9 |
|
|
| leukodystrophy, hypomyelinating, 5 |
|
|
Search TXNL4A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TXN4A_HUMAN- 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.
Additional Disease Information for TXNL4A
No data available for Genatlas for TXNL4A Gene
Publications for TXNL4A Gene
- Identification, characterization and crystal structure analysis of the human spliceosomal U5 snRNP-specific 15 kD protein. (PMID: 10610776) Reuter K … Ficner R (Journal of molecular biology 1999) 3 4 23
- The evolutionarily conserved Dim1 protein defines a novel branch of the thioredoxin fold superfamily. (PMID: 11015569) Zhang YZ … Golemis EA (Physiological genomics 1999) 2 3 4
- Cryo-EM Structure of a Pre-catalytic Human Spliceosome Primed for Activation. (PMID: 28781166) Bertram K … Stark H (Cell 2017) 3 4
- Molecular architecture of the human U4/U6.U5 tri-snRNP. (PMID: 26912367) Agafonov DE … Stark H (Science (New York, N.Y.) 2016) 3 4
- Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. (PMID: 25434003) Wieczorek D … Strom TM (American journal of human genetics 2014) 3 4
ExternalLinks
Products for TXNL4A Gene
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Sources for TXNL4A Gene
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