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Aliases for TNXA Gene

Aliases for TNXA Gene

  • Tenascin XA (Pseudogene) 2 3
  • XA 3 4
  • Tenascin XA Pseudogene 3
  • Tenascin XA 2
  • D6S103E 3
  • TN-XA 4
  • HXBL 3
  • TNX 3

External Ids for TNXA Gene

Previous Symbols for TNXA Gene

  • TNX

Summaries for TNXA Gene

GeneCards Summary for TNXA Gene

TNXA (Tenascin XA (Pseudogene)) is a Pseudogene. Diseases associated with TNXA include hypermobility syndrome and scott syndrome.

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

Genomics for TNXA Gene

Genomic Location for TNXA Gene

Start:
32,008,420 bp from pter
End:
32,013,023 bp from pter
Size:
4,604 bases
Orientation:
Minus strand

Genomic View for TNXA Gene

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

Regulatory Elements for TNXA Gene

Proteins for TNXA Gene

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

    Protein Symbol:
    Q16473-TENXA_HUMAN
    Recommended name:
    Putative tenascin-XA
    Protein Accession:
    Q16473
    Secondary Accessions:

    Protein attributes for TNXA Gene

    Size:
    311 amino acids
    Molecular mass:
    33740 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • TNX genes are located in the class III HLA region within a complex locus, named RCCX module, containing genes for RP1/STK19, C4B, CYP21B/CYP21A2 and TNXB. Most chromosomes bear 2 modules, but monomodular and trimodular haplotypes are common in most populations. The bimodular haplotype results from the duplication of the RCCX module, leading to a duplicate containing RP2/RP1 pseudogene, C4A, CYP21A/CYP21A1P and TNXA. TNXA is a duplicated section of TNXB and probably consists in a truncated pseudogene: it contains a 120 bp deletion causing a frameshift and a premature stop codon that probably render the gene non-functional. In some pathologies, an unequal crossover between monomodular and bimodular RCCX results in a chromosome with a TNXB-TNXA hybrid gene, arising from a fusion between the TNXB gene of a monomodular RCCX and the TNXA gene of a bimodular RCCX. The TNXB-TNXA hybrid may correspond to TNXB-Short gene and may produce a functional protein

neXtProt entry for TNXA Gene

Proteomics data for TNXA Gene at MOPED

Post-translational modifications for TNXA Gene

No Post-translational modifications

No data available for DME Specific Peptides for TNXA Gene

Domains for TNXA Gene

Protein Domains for TNXA Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

TENXA_HUMAN
Domain:
  • Contains 3 fibronectin type-III domains.:
    • Q16473
genes like me logo Genes that share domains with TNXA: view

No data available for Gene Families for TNXA Gene

Function for TNXA Gene

Molecular function for TNXA Gene

GENATLAS Biochemistry: tenascin-like XA,homologous to XBS,included in YA and overlapping CYP21P,both in opposite orientation,(see XA)

Gene Ontology (GO) - Molecular Function for TNXA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TNXA: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TNXA Gene

Localization for TNXA Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TNXA Gene COMPARTMENTS Subcellular localization image for TNXA gene
Compartment Confidence
extracellular 2
plasma membrane 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TNXA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with TNXA: view

Pathways for TNXA Gene

SuperPathways for TNXA Gene

No Data Available

Interacting Proteins for TNXA Gene

Gene Ontology (GO) - Biological Process for TNXA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TNXA: view

No data available for Pathways by source for TNXA Gene

Compounds for TNXA Gene

(33) Novoseek inferred chemical compound relationships for TNXA Gene

Compound -log(P) Hits PubMed IDs
heparin 84.4 116
fondaparinux 71.7 5
danaparoid 71.6 7
tinzaparin 65.5 2
nadroparin 62 2
genes like me logo Genes that share compounds with TNXA: view

Transcripts for TNXA Gene

mRNA/cDNA for TNXA Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TNXA Gene

Tenascin XA (pseudogene):
Representative Sequences:

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

No ASD Table

Relevant External Links for TNXA Gene

GeneLoc Exon Structure for
TNXA
ECgene alternative splicing isoforms for
TNXA

Expression for TNXA Gene

mRNA expression in normal human tissues for TNXA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Adrenal Gland (37.3).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for TNXA Gene

SOURCE GeneReport for Unigene cluster for TNXA Gene Hs.708061

mRNA Expression by UniProt/SwissProt for TNXA Gene

Q16473-TENXA_HUMAN
Tissue specificity: Expressed in the adrenal gland.
genes like me logo Genes that share expressions with TNXA: view

Orthologs for TNXA Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for TNXA Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Tnxa 16
Species with no ortholog for TNXA:
  • 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)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TNXA Gene

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

Paralogs for TNXA Gene

Selected SIMAP similar genes for TNXA Gene using alignment to 1 proteins:

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

No data available for Paralogs for TNXA Gene

Variants for TNXA Gene

Sequence variations from dbSNP and Humsavar for TNXA Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs4959087 -- 32,011,083(+) AGGGC(A/G)GCTGG intron-variant
rs9378255 -- 32,011,442(+) CGCCC(A/C)CCCCC intron-variant
rs9501602 -- 32,011,488(+) TACAA(A/G)GACCC intron-variant
rs55968081 -- 32,012,369(+) ATGGA(A/G)TCTGG nc-transcript-variant
rs56047390 -- 32,012,285(+) AAGGC(C/T)TGGGG nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
dgv1928e1 CNV Complex 17122850
nsv428141 CNV Gain+Loss 18775914
dgv1929e1 CNV Complex 17122850
dgv6604n71 CNV Loss 21882294
nsv284 CNV Loss 15895083
nsv5247 CNV Loss 18451855
dgv6607n71 CNV Loss 21882294
dgv6608n71 CNV Gain 21882294
dgv6610n71 CNV Gain 21882294
dgv6612n71 CNV Loss 21882294
dgv6613n71 CNV Loss 21882294
dgv6614n71 CNV Gain 21882294
dgv6615n71 CNV Gain 21882294
dgv6616n71 CNV Gain+Loss 21882294
esv28110 CNV Gain+Loss 19812545
dgv6617n71 CNV Gain+Loss 21882294
nsv10824 CNV Gain+Loss 18304495
dgv6620n71 CNV Gain 21882294
nsv819957 CNV Loss 19587683
dgv6621n71 CNV Gain 21882294
dgv6622n71 CNV Gain+Loss 21882294
nsv884617 CNV Gain 21882294
dgv20n31 CNV Duplication 19718026
nsv884626 CNV Loss 21882294
nsv884627 CNV Loss 21882294
dgv6623n71 CNV Loss 21882294
dgv6624n71 CNV Loss 21882294
dgv6625n71 CNV Gain 21882294
nsv823507 CNV Loss 20364138
dgv6626n71 CNV Gain+Loss 21882294
dgv6627n71 CNV Gain 21882294
dgv6628n71 CNV Loss 21882294
dgv6629n71 CNV Loss 21882294
nsv884657 CNV Gain 21882294
dgv6630n71 CNV Gain+Loss 21882294
dgv6631n71 CNV Loss 21882294
nsv823508 CNV Gain 20364138
nsv884663 CNV Gain 21882294
nsv884664 CNV Gain 21882294
nsv285 CNV Loss 15895083
esv2731825 CNV Deletion 23290073
nsv884665 CNV Loss 21882294

Relevant External Links for TNXA Gene

HapMap Linkage Disequilibrium report
TNXA

Disorders for TNXA Gene

UniProtKB/Swiss-Prot

TENXA_HUMAN
  • Tenascin-X deficiency (TNXD) [MIM:606408]: TNXD leads to an Ehlers-Danlos-like syndrome characterized by hyperextensible skin, hypermobile joints, and tissue fragility. Tenascin-X-deficient patients, however, lack atrophic scars, a major diagnostic criteria for classic Ehlers-Danlos. Delayed wound healing, which is also common in classic EDS, is only present in a subset of patients. {ECO:0000269 PubMed:23768946}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for TNXA Gene

(21) Novoseek inferred disease relationships for TNXA Gene

Disease -log(P) Hits PubMed IDs
scott syndrome 65.6 2
thrombosis 54.6 4
bleeding 54.4 7
thromboembolism 51.3 4
arterial thrombosis 50.4 3

Relevant External Links for TNXA

Genetic Association Database (GAD)
TNXA
Human Genome Epidemiology (HuGE) Navigator
TNXA
genes like me logo Genes that share disorders with TNXA: view

Publications for TNXA Gene

  1. An unequal crossover between the RCCX modules of the human MHC leading to the presence of a CYP21B gene and a tenascin TNXB/TNXA-RP2 recombinant between C4A and C4B genes in a patient with juvenile rheumatoid arthritis. (PMID: 10343159) Rupert K.L. … Yu C.Y. (Exp. Clin. Immunogenet. 1999) 3 23
  2. Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus. (PMID: 1373808) Gitelman S.E. … Miller W.L. (Mol. Cell. Biol. 1992) 3 4
  3. The complete exon-intron structure of a human complement component C4A gene. DNA sequences, polymorphism, and linkage to the 21- hydroxylase gene. (PMID: 1988494) Yu C.Y. (J. Immunol. 1991) 2 3
  4. Transcript encoded on the opposite strand of the human steroid 21- hydroxylase/complement component C4 gene locus. (PMID: 2475872) Morel Y. … Miller W.L. (Proc. Natl. Acad. Sci. U.S.A. 1989) 2 3
  5. An unequal crossover event in RCCX modules of the human MHC resulting in the formation of a TNXB/TNXA hybrid and deletion of the CYP21A. (PMID: 12121677) Jaatinen T. … Lokki M.-L. (Hum. Immunol. 2002) 3 4

Products for TNXA Gene

  • QIAGEN qRT-PCR Assays for microRNAs that regulate TNXA
    • 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
    • Predesigned siRNA for gene silencing in human,mouse,rat for TNXA
    • Block miRNA regulation of TNXA using miScript Target Protectors

    Sources for TNXA Gene

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