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Aliases for TBXAS1 Gene

Aliases for TBXAS1 Gene

  • Thromboxane A Synthase 1 (Platelet) 2 3
  • Cytochrome P450 5A1 3 4
  • TXA Synthase 3 4
  • EC 5.3.99.5 4 63
  • CYP5A1 3 4
  • CYP5 3 4
  • TXS 3 4
  • Thromboxane A Synthase 1 (Platelet, Cytochrome P450, Subfamily V) 2
  • Cytochrome P450, Family 5, Subfamily A, Polypeptide 1 3
  • Platelet, Cytochrome P450, Subfamily V 3
  • Cytochrome P450 2
  • Polypeptide 1 2
  • Subfamily A 2
  • Family 5 2
  • BDPLT14 3
  • GHOSAL 3
  • THAS 3
  • TXAS 3
  • TS 3

External Ids for TBXAS1 Gene

Previous GeneCards Identifiers for TBXAS1 Gene

  • GC07P137799
  • GC07P138808
  • GC07P138936
  • GC07P138982
  • GC07P139124
  • GC07P139476
  • GC07P133772

Summaries for TBXAS1 Gene

Entrez Gene Summary for TBXAS1 Gene

  • This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

GeneCards Summary for TBXAS1 Gene

TBXAS1 (Thromboxane A Synthase 1 (Platelet)) is a Protein Coding gene. Diseases associated with TBXAS1 include ghosal hematodiaphyseal syndrome and thromboxane synthase deficiency. Among its related pathways are Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and Platelet activation. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP4F12.

Gene Wiki entry for TBXAS1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBXAS1 Gene

Genomics for TBXAS1 Gene

Regulatory Elements for TBXAS1 Gene

Epigenetics Products

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

Genomic Location for TBXAS1 Gene

Chromosome:
7
Start:
139,777,051 bp from pter
End:
140,020,325 bp from pter
Size:
243,275 bases
Orientation:
Plus strand

Genomic View for TBXAS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBXAS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBXAS1 Gene

Proteins for TBXAS1 Gene

  • Protein details for TBXAS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24557-THAS_HUMAN
    Recommended name:
    Thromboxane-A synthase
    Protein Accession:
    P24557
    Secondary Accessions:
    • B4DJG6
    • E7EMU9
    • E7EP08
    • E7ESB5
    • O14987
    • Q16843
    • Q16844
    • Q8IUN1
    • Q96CN2
    • Q9GZW4
    • Q9HD77
    • Q9HD78
    • Q9HD79
    • Q9HD80
    • Q9HD81
    • Q9HD82
    • Q9HD83
    • Q9HD84

    Protein attributes for TBXAS1 Gene

    Size:
    533 amino acids
    Molecular mass:
    60518 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    • Monomer
    SequenceCaution:
    • Sequence=AAA60617.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAA60618.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAC01761.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAC01761.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99269.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99270.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99271.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99272.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99273.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99274.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99275.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99276.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99277.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99278.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF99279.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH41157.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAG58828.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW83934.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TBXAS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBXAS1 Gene

Proteomics data for TBXAS1 Gene at MOPED

Selected DME Specific Peptides for TBXAS1 Gene

Post-translational modifications for TBXAS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for TBXAS1 Gene

Gene Families for TBXAS1 Gene

Suggested Antigen Peptide Sequences for TBXAS1 Gene

Graphical View of Domain Structure for InterPro Entry

P24557

UniProtKB/Swiss-Prot:

THAS_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with TBXAS1: view

Function for TBXAS1 Gene

Molecular function for TBXAS1 Gene

GENATLAS Biochemistry:
thromboxane synthase,cytochrome p450 superfamily
UniProtKB/Swiss-Prot CatalyticActivity:
(5Z,13E)-(15S)-9-alpha,11-alpha-epidioxy-15-hydroxyprosta-5,13-dienoate = (5Z,13E)-(15S)-9-alpha,11-alpha-epoxy-15-hydroxythromboxa-5,13-dienoate

Enzyme Numbers (IUBMB) for TBXAS1 Gene

Gene Ontology (GO) - Molecular Function for TBXAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0004796 thromboxane-A synthase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with TBXAS1: view
genes like me logo Genes that share phenotypes with TBXAS1: view

Animal Models for TBXAS1 Gene

MGI Knock Outs for TBXAS1:

miRNA for TBXAS1 Gene

miRTarBase miRNAs that target TBXAS1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBXAS1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for TBXAS1 Gene

Localization for TBXAS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBXAS1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBXAS1 Gene COMPARTMENTS Subcellular localization image for TBXAS1 gene
Compartment Confidence
endoplasmic reticulum 4
cytosol 1
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TBXAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TBXAS1: view

Pathways & Interactions for TBXAS1 Gene

genes like me logo Genes that share pathways with TBXAS1: view

Interacting Proteins for TBXAS1 Gene

Gene Ontology (GO) - Biological Process for TBXAS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006690 icosanoid metabolic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0019369 arachidonic acid metabolic process TAS --
GO:0019371 cyclooxygenase pathway TAS --
GO:0030644 cellular chloride ion homeostasis --
genes like me logo Genes that share ontologies with TBXAS1: view

No data available for SIGNOR curated interactions for TBXAS1 Gene

Drugs & Compounds for TBXAS1 Gene

(14) Drugs for TBXAS1 Gene - From: NovoSeek, DrugBank, DGIdb, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ridogrel Approved Pharma Target, inhibitor 0
Sulfasalazine Approved Pharma Inhibition, Inhibitor, Target, antagonist NF-κB activation inhibitor 53
Aspirin Approved Pharma Channel blocker 971
Clotrimazole Approved Pharma Channel blocker Cytochrome P450 inhibitor; antifungal 24
dazoxiben Experimental Pharma Target, inhibitor 0

(17) Additional Compounds for TBXAS1 Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Thromboxane
  • Thromboxane A2
66719-58-2
Thromboxane A2
  • (1S-(1alpha,3alpha,3R*),4beta(Z),5alpha)-7-(3-(3-hydroxy-1-octenyl)-2,6-dioxabicyclo(3.1.1)hept-4-yl)-5-Heptenoate
  • (1S-(1alpha,3alpha,3R*),4beta(Z),5alpha)-7-(3-(3-hydroxy-1-octenyl)-2,6-dioxabicyclo(3.1.1)hept-4-yl)-5-Heptenoic acid
  • (5Z)-7-[(1S,3R,4S,5S)-3-[(1E,3S)-3-hydroxy-1-octenyl]-2,6-dioxabicyclo[3.1.1]hept-4-yl]-5-Heptenoate
  • (5Z)-7-[(1S,3R,4S,5S)-3-[(1E,3S)-3-hydroxy-1-octenyl]-2,6-dioxabicyclo[3.1.1]hept-4-yl]-5-Heptenoic acid
  • (5Z,13E)-(15S)-9,11-epoxy-15-hydroxythromba-5,13-dienoate
57576-52-0
Prostaglandin H2
  • (15S)Hydroxy-9alpha,11alpha-(epoxymethano)prosta-5,13-dienoate
  • (15S)Hydroxy-9alpha,11alpha-(epoxymethano)prosta-5,13-dienoic acid
  • (5Z)-7-{(1R,4S,5R,6R)-6-[(1E,3S)-3-hydroxyoct-1-en-1-yl]-2,3-dioxabicyclo[2.2.1]hept-5-yl}hept-5-enoate
  • (5Z)-7-{(1R,4S,5R,6R)-6-[(1E,3S)-3-hydroxyoct-1-en-1-yl]-2,3-dioxabicyclo[2.2.1]hept-5-yl}hept-5-enoic acid
  • (5Z,13E)-(15S)-9,11-epidioxy-15-hydroxyprosta-5,13-dienoate
42935-17-1
12-Hydroxy-5,8,10-heptadecatrienoic acid
Creatinine
  • 1-Methylglycocyamidine
  • 1-Methylhydantoin-2-imide
  • 2-Amino-1-methyl-1,5-dihydroimidazol-4-one
  • 2-Amino-1-methylimidazolin-4-one
  • Creatine anhydride
60-27-5
genes like me logo Genes that share compounds with TBXAS1: view

Drug Products

Transcripts for TBXAS1 Gene

Unigene Clusters for TBXAS1 Gene

Thromboxane A synthase 1 (platelet):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TBXAS1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBXAS1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1: - - - -
SP2: - - - - -
SP3: -
SP4: -
SP5: - - -
SP6:
SP7: - - - -

Relevant External Links for TBXAS1 Gene

GeneLoc Exon Structure for
TBXAS1
ECgene alternative splicing isoforms for
TBXAS1

Expression for TBXAS1 Gene

mRNA expression in normal human tissues for TBXAS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TBXAS1 Gene

This gene is overexpressed in Whole Blood (x27.3) and Spleen (x4.8).

Protein differential expression in normal tissues from HIPED for TBXAS1 Gene

This gene is overexpressed in Platelet (29.4), Peripheral blood mononuclear cells (14.9), and Spleen (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TBXAS1 Gene



SOURCE GeneReport for Unigene cluster for TBXAS1 Gene Hs.520757

mRNA Expression by UniProt/SwissProt for TBXAS1 Gene

P24557-THAS_HUMAN
Tissue specificity: Platelets, lung, kidney, spleen, macrophages and lung fibroblasts
genes like me logo Genes that share expression patterns with TBXAS1: view

Protein tissue co-expression partners for TBXAS1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for TBXAS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBXAS1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TBXAS1 35
  • 84.8 (n)
  • 83.11 (a)
TBXAS1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBXAS1 35
  • 87.24 (n)
  • 85.74 (a)
TBXAS1 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbxas1 35
  • 82.86 (n)
  • 81.61 (a)
Tbxas1 16
Tbxas1 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbxas1 35
  • 82.3 (n)
  • 79.74 (a)
oppossum
(Monodelphis domestica)
Mammalia TBXAS1 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBXAS1 36
  • 59 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TBXAS1 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBXAS1 35
  • 64.89 (n)
  • 62.36 (a)
TBXAS1 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBXAS1 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbxas1 35
  • 60.9 (n)
  • 56.54 (a)
zebrafish
(Danio rerio)
Actinopterygii tbxas1 35
  • 57.72 (n)
  • 48.97 (a)
wufk19d08 35
tbxas1 36
  • 47 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Cyp6a13 37
  • 28 (a)
Cyp6a18 37
  • 27 (a)
Cyp6a19 37
  • 26 (a)
Cyp6a20 37
  • 28 (a)
Cyp6a21 37
  • 28 (a)
Cyp6a23 37
  • 27 (a)
Cyp6a8 37
  • 27 (a)
Cyp6a9 37
  • 26 (a)
Cyp6d4 37
  • 28 (a)
Cyp6g2 37
  • 28 (a)
Cyp6t1 37
  • 28 (a)
Cyp6v1 37
  • 28 (a)
Cyp6w1 37
  • 28 (a)
Cyp9c1 37
  • 29 (a)
Cyp6a23 35
  • 46.22 (n)
  • 32.89 (a)
Cyp28a5 36
  • 20 (a)
OneToMany
Cyp28c1 36
  • 21 (a)
OneToMany
Cyp28d1 36
  • 24 (a)
OneToMany
Cyp28d2 36
  • 24 (a)
OneToMany
Cyp308a1 36
  • 24 (a)
OneToMany
Cyp309a1 36
  • 19 (a)
OneToMany
Cyp309a2 36
  • 20 (a)
OneToMany
Cyp317a1 36
  • 22 (a)
OneToMany
Cyp6a13 36
  • 28 (a)
OneToMany
Cyp6a17 36
  • 27 (a)
OneToMany
Cyp6a18 36
  • 28 (a)
OneToMany
Cyp6a19 36
  • 27 (a)
OneToMany
Cyp6a2 36
  • 27 (a)
OneToMany
Cyp6a21 36
  • 27 (a)
OneToMany
Cyp6a22 36
  • 28 (a)
OneToMany
Cyp6a23 36
  • 28 (a)
OneToMany
Cyp6a8 36
  • 27 (a)
OneToMany
Cyp6a9 36
  • 26 (a)
OneToMany
Cyp6d2 36
  • 21 (a)
OneToMany
Cyp6d4 36
  • 26 (a)
OneToMany
Cyp6d5 36
  • 25 (a)
OneToMany
Cyp6g1 36
  • 25 (a)
OneToMany
Cyp6g2 36
  • 26 (a)
OneToMany
Cyp6t1 36
  • 26 (a)
OneToMany
Cyp6t3 36
  • 25 (a)
OneToMany
Cyp6u1 36
  • 25 (a)
OneToMany
Cyp6v1 36
  • 28 (a)
OneToMany
Cyp6w1 36
  • 26 (a)
OneToMany
Cyp9b1 36
  • 27 (a)
OneToMany
Cyp9b2 36
  • 26 (a)
OneToMany
Cyp9c1 36
  • 28 (a)
OneToMany
Cyp9f2 36
  • 25 (a)
OneToMany
Cyp9h1 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F14F7.2 37
  • 28 (a)
T10B9.1 37
  • 27 (a)
T10B9.2 37
  • 27 (a)
T10B9.3 37
  • 28 (a)
T10B9.7 37
  • 29 (a)
T10B9.8 37
  • 28 (a)
ZK1320.4 37
  • 26 (a)
cyp-13A1 36
  • 26 (a)
OneToMany
cyp-13A10 36
  • 25 (a)
OneToMany
cyp-13A11 36
  • 25 (a)
OneToMany
cyp-13A12 36
  • 25 (a)
OneToMany
cyp-13A2 36
  • 28 (a)
OneToMany
cyp-13A3 36
  • 25 (a)
OneToMany
cyp-13A4 36
  • 27 (a)
OneToMany
cyp-13A5 36
  • 26 (a)
OneToMany
cyp-13A6 36
  • 26 (a)
OneToMany
cyp-13A7 36
  • 28 (a)
OneToMany
cyp-13A8 36
  • 27 (a)
OneToMany
cyp-13B1 36
  • 23 (a)
OneToMany
cyp-13B2 36
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CYP711A1 35
  • 45.8 (n)
  • 31.76 (a)
rice
(Oryza sativa)
Liliopsida Os01g0701500 35
  • 45.76 (n)
  • 31.95 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
ManyToMany
-- 36
  • 38 (a)
ManyToMany
Species with no ortholog for TBXAS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBXAS1 Gene

ENSEMBL:
Gene Tree for TBXAS1 (if available)
TreeFam:
Gene Tree for TBXAS1 (if available)

Paralogs for TBXAS1 Gene

genes like me logo Genes that share paralogs with TBXAS1: view

Variants for TBXAS1 Gene

Sequence variations from dbSNP and Humsavar for TBXAS1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs4526 - 140,015,781(+) CAGGC(A/G)CTGTG missense, reference, nc-transcript-variant
rs4527 -- 140,015,798(+) ATGGC(C/T)GTGGG reference, synonymous-codon, nc-transcript-variant
rs4528 - 140,015,742(+) CAGCT(C/G)AGGAC reference, missense, nc-transcript-variant
rs4529 -, -, - 139,962,165(+) CCTAC(C/G/T)TACTG reference, missense, synonymous-codon, nc-transcript-variant
rs5760 - 140,007,122(+) GGAAG(G/T)CCTGC reference, missense, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for TBXAS1 Gene

Variant ID Type Subtype PubMed ID
esv2735212 CNV Deletion 23290073
nsv464732 CNV Gain 19166990
nsv464733 CNV Loss 19166990
nsv831156 CNV Loss 17160897
esv2735234 CNV Deletion 23290073
esv2735235 CNV Deletion 23290073
nsv889244 CNV Loss 21882294
nsv889245 CNV Gain 21882294
esv2671572 CNV Deletion 23128226
esv2735236 CNV Deletion 23290073
nsv365428 CNV Loss 16902084
nsv889246 CNV Gain 21882294
esv2676633 CNV Deletion 23128226

Variation tolerance for TBXAS1 Gene

Residual Variation Intolerance Score: 92.34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.96; 74.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBXAS1 Gene

HapMap Linkage Disequilibrium report
TBXAS1
Human Gene Mutation Database (HGMD)
TBXAS1
The Human Cytochrome P450 Allele Nomenclature Database
TBXAS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBXAS1 Gene

Disorders for TBXAS1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for TBXAS1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ghosal hematodiaphyseal syndrome
  • ghosal hematodiaphyseal dysplasia syndrome
thromboxane synthase deficiency
aregenerative anemia
  • refractory anemias
peroneal nerve paralysis
  • peroneal nerve palsy
femoral neuropathy
  • femoral nerve lesions
- elite association

UniProtKB/Swiss-Prot

THAS_HUMAN
  • Ghosal hematodiaphyseal dysplasia (GHDD) [MIM:231095]: Rare autosomal recessive disorder characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia. Aregenerative anemia is characterized by bone marrow failure, so that functional marrow cells are regenerated slowly or not at all. {ECO:0000269 PubMed:18264100}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Thromboxane synthetase deficiency has been detected in some patients with a bleeding disorder due to platelet dysfunction. {ECO:0000269 PubMed:6101498}.

Relevant External Links for TBXAS1

Genetic Association Database (GAD)
TBXAS1
Human Genome Epidemiology (HuGE) Navigator
TBXAS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBXAS1
genes like me logo Genes that share disorders with TBXAS1: view

No data available for Genatlas for TBXAS1 Gene

Publications for TBXAS1 Gene

  1. Genomic structure and polymorphism of the human thromboxane synthase-encoding gene. (PMID: 8964509) Baek S.J. … Shen R.F. (Gene 1996) 2 23 67
  2. Molecular cloning of human platelet thromboxane A synthase. (PMID: 1714723) Yokoyama C. … Tanabe T. (Biochem. Biophys. Res. Commun. 1991) 2 23 67
  3. Estradiol selectively stimulates endothelial prostacyclin production through estrogen receptor-{alpha}. (PMID: 20110403) Sobrino A. … Hermenegildo C. (J. Mol. Endocrinol. 2010) 23 67
  4. Heritability of thromboxane A2 and prostaglandin E2 biosynthetic machinery in a Spanish population. (PMID: 19850905) Vila L. … Soria J.M. (Arterioscler. Thromb. Vasc. Biol. 2010) 23 67
  5. Association of polymorphisms in thromboxane A2 receptor and thromboxane A synthase 1 with cerebral infarction in a Korean population. (PMID: 19403042) Park S.A. … Shin H.D. (BMB Rep 2009) 23 67

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