TNXB (tenascin XB)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7148
Gene name Gene Name - the full gene name approved by the HGNC.
Tenascin XB
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TNXB
Synonyms (NCBI Gene) Gene synonyms aliases
EDS3, EDSCLL, EDSCLL1, HXBL, TENX, TN-X, TNX, TNXB1, TNXB2, TNXBS, VUR8, XB, XBS
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33-p21.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing,
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
SNP ID Visualize variation Clinical significance Consequence
rs121912575 C>T Pathogenic, uncertain-significance Missense variant, genic upstream transcript variant, coding sequence variant
rs144556766 AC>-,ACAC Pathogenic Frameshift variant, coding sequence variant, genic upstream transcript variant
rs201397168 T>A Likely-pathogenic, uncertain-significance Coding sequence variant, genic upstream transcript variant, missense variant
rs201510617 C>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs587777682 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
miRTarBase ID miRNA Experiments Reference
MIRT036021 hsa-miR-1301-3p CLASH 23622248
MIRT1445811 hsa-miR-3919 CLIP-seq
MIRT1445812 hsa-miR-4691-5p CLIP-seq
MIRT1445813 hsa-miR-516a-3p CLIP-seq
MIRT1445814 hsa-miR-137 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(44)
GO ID Ontology Definition Evidence Reference
GO:0005178 Function Integrin binding ISS
GO:0005201 Function Extracellular matrix structural constituent ISS
GO:0005201 Function Extracellular matrix structural constituent RCA 20551380, 25037231, 27559042, 28327460, 28675934
GO:0005515 Function Protein binding IPI 21516116, 25416956, 32296183, 32814053, 35443807
GO:0005518 Function Collagen binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
600985 11976 ENSG00000168477
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P22105
Protein name Tenascin-X (TN-X) (Hexabrachion-like protein)
Protein function Appears to mediate interactions between cells and the extracellular matrix. Substrate-adhesion molecule that appears to inhibit cell migration. Accelerates collagen fibril formation. May play a role in supporting the growth of epithelial tumors.
PDB 2CUH , 2CUI , 2CUM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07974 EGF_2 187 → 213 EGF-like domain Domain
PF18720 EGF_Tenascin 248 → 276 Tenascin EGF domain Domain
PF18720 EGF_Tenascin 279 → 307 Tenascin EGF domain Domain
PF18720 EGF_Tenascin 310 → 338 Tenascin EGF domain Domain
PF18720 EGF_Tenascin 341 → 369 Tenascin EGF domain Domain
PF18720 EGF_Tenascin 372 → 400 Tenascin EGF domain Domain
PF18720 EGF_Tenascin 434 → 462 Tenascin EGF domain Domain
PF18720 EGF_Tenascin 496 → 524 Tenascin EGF domain Domain
PF18720 EGF_Tenascin 527 → 555 Tenascin EGF domain Domain
PF18720 EGF_Tenascin 558 → 586 Tenascin EGF domain Domain
PF18720 EGF_Tenascin 589 → 617 Tenascin EGF domain Domain
PF07974 EGF_2 621 → 647 EGF-like domain Domain
PF00041 fn3 750 → 832 Fibronectin type III domain Domain
PF00041 fn3 841 → 919 Fibronectin type III domain Domain
PF00041 fn3 1062 → 1141 Fibronectin type III domain Domain
PF00041 fn3 1159 → 1240 Fibronectin type III domain Domain
PF00041 fn3 1262 → 1342 Fibronectin type III domain Domain
PF00041 fn3 1373 → 1453 Fibronectin type III domain Domain
PF00041 fn3 1475 → 1555 Fibronectin type III domain Domain
PF00041 fn3 1578 → 1656 Fibronectin type III domain Domain
PF00041 fn3 1674 → 1753 Fibronectin type III domain Domain
PF00041 fn3 1777 → 1857 Fibronectin type III domain Domain
PF00041 fn3 1881 → 1960 Fibronectin type III domain Domain
PF00041 fn3 1988 → 2068 Fibronectin type III domain Domain
PF00041 fn3 2096 → 2176 Fibronectin type III domain Domain
PF00041 fn3 2196 → 2275 Fibronectin type III domain Domain
PF00041 fn3 2304 → 2384 Fibronectin type III domain Domain
PF00041 fn3 2412 → 2492 Fibronectin type III domain Domain
PF00041 fn3 2523 → 2603 Fibronectin type III domain Domain
PF00041 fn3 2629 → 2709 Fibronectin type III domain Domain
PF00041 fn3 2737 → 2817 Fibronectin type III domain Domain
PF00041 fn3 2845 → 2925 Fibronectin type III domain Domain
PF00041 fn3 2953 → 3033 Fibronectin type III domain Domain
PF00041 fn3 3061 → 3141 Fibronectin type III domain Domain
PF00041 fn3 3167 → 3247 Fibronectin type III domain Domain
PF00041 fn3 3263 → 3341 Fibronectin type III domain Domain
PF00041 fn3 3355 → 3436 Fibronectin type III domain Domain
PF00041 fn3 3449 → 3530 Fibronectin type III domain Domain
PF00041 fn3 3557 → 3637 Fibronectin type III domain Domain
PF00041 fn3 3656 → 3741 Fibronectin type III domain Domain
PF00041 fn3 3757 → 3836 Fibronectin type III domain Domain
PF00041 fn3 3846 → 3926 Fibronectin type III domain Domain
PF00041 fn3 3934 → 4012 Fibronectin type III domain Domain
PF00147 Fibrinogen_C 4026 → 4235 Fibrinogen beta and gamma chains, C-terminal globular domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in fetal adrenal, in fetal testis, fetal smooth, striated and cardiac muscle. Isoform XB-short is only expressed in the adrenal gland.
Sequence 
MMPAQYALTSSLVLLVLLSTARAGPFSSRSNVTLPAPRPPPQPGGHTVGAGVGSPSSQLY
EHTVEGGEKQVVFTHRINLPPSTGCGCPPGTEPPVLASEVQALRVRLEILEELVKGLKEQ
CTGGCCPASAQAGTGQTDVRTLCSLHGVFDLSRCTCSCEPGWGGPTCSDPTDAEIPPSSP
PSASGSCPDDCNDQGRCVRGRCVCFPGYTGPSCGWPSCPGDCQGRGRCVQGVCVCRAGFS
GPDCSQRSCPRGCSQRGRCEGGRCVCDPGYTGDDCGMRSCPRGCSQRGRCENGRCVCNPG
YTGEDCGVRSCPRGCSQRGRCKDGRCVCDPGYTGEDCGTRSCPWDCGEGGRCVDGRCVCW
PGYTGEDCSTRTCPRDCRGRGRCEDGECICDTGYSGDDCGVRSCPGDCNQRGRCEDGRCV
CWPGYTGTDCGSRACPRDCRGRGRCENGVCVCNAGYSGEDCGVRSCPGDCRGRGRCESGR
CMCWPGYTGRDCGTRACPGDCRGRGRCVDGRCVCNPGFTGEDCGSRRCPGDCRGHGLCED
GVCVCDAGYSGEDCSTRSCPGGCRGRGQCLDGRCVCEDGYSGEDCGVRQCPNDCSQHGVC
QDGVCICWEGYVSEDCSIRTCPSNCHGRGRCEEGRCLCDPGYTGPTCATRMCPADCRGRG
RCVQGVCLCHVGYGGEDCGQEEPPASACPGGCGPRELCRAGQCVCVEGFRGPDCAIQTCP
GDCRGRGECHDGSCVCKDGYAGEDCGEEVPTIEGMRMHLLEETTVRTEWTPAPGPVDAYE
IQFIPTTEGASPPFTARVPSSASAYDQRGLAPGQEYQVTVRALRGTSWGLPASKTITTMI
DGPQDLRVVAVTPTTLELGWLRPQAEVDRFVVSYVSAGNQRVRLEVPPEADGTLLTDLMP
GVEYVVTVTAERGRAVSYPASVRANTGSSPLGLLGTTDEPPPSGPSTTQGAQAPLLQQRP
QELGELRVLGRDETGRLRVVWTAQPDTFAYFQLRMRVPEGPGAHEEVLPGDVRQALVPPP
PPGTPYELSLHGVPPGGKPSDPIIYQGIMDKDEEKPGKSSGPPRLGELTVTDRTSDSLLL
RWTVPEGEFDSFVIQYKDRDGQPQVVPVEGPQRSAVITSLDPGRKYKFVLYGFVGKKRHG
PLVAEAKILPQSDPSPGTPPHLGNLWVTDPTPDSLHLSWTVPEGQFDTFMVQYRDRDGRP
QVVPVEGPERSFVVSSLDPDHKYRFTLFGIANKKRYGPLTADGTTAPERKEEPPRPEFLE
QPLLGELTVTGVTPDSLRLSWTVAQGPFDSFMVQYKDAQGQPQAVPVAGDENEVTVPGLD
PDRKYKMNLYGLRGRQRVGPESVVAKTAPQEDVDETPSPTELGTEAPESPEEPLLGELTV
TGSSPDSLSLFWTVPQGSFDSFTVQYKDRDGRPRAVRVGGKESEVTVGGLEPGHKYKMHL
YGLHEGQRVGPVSAVGVTAPQQEETPPATESPLEPRLGELTVTDVTPNSVGLSWTVPEGQ
FDSFIVQYKDKDGQPQVVPVAADQREVTVYNLEPERKYKMNMYGLHDGQRMGPLSVVIVT
APLPPAPATEASKPPLEPRLGELTVTDITPDSVGLSWTVPEGEFDSFVVQYKDRDGQPQV
VPVAADQREVTIPDLEPSRKYKFLLFGIQDGKRRSPVSVEAKTVARGDASPGAPPRLGEL
WVTDPTPDSLRLSWTVPEGQFDSFVVQFKDKDGPQVVPVEGHERSVTVTPLDAGRKYRFL
LYGLLGKKRHGPLTADGTTEARSAMDDTGTKRPPKPRLGEELQVTTVTQNSVGLSWTVPE
GQFDSFVVQYKDRDGQPQVVPVEGSLREVSVPGLDPAHRYKLLLYGLHHGKRVGPISAVA
ITAGREETETETTAPTPPAPEPHLGELTVEEATSHTLHLSWMVTEGEFDSFEIQYTDRDG
QLQMVRIGGDRNDITLSGLESDHRYLVTLYGFSDGKHVGPVHVEALTVPEEEKPSEPPTA
TPEPPIKPRLGELTVTDATPDSLSLSWTVPEGQFDHFLVQYRNGDGQPKAVRVPGHEEGV
TISGLEPDHKYKMNLYGFHGGQRMGPVSVVGVTAAEEETPSPTEPSMEAPEPAEEPLLGE
LTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQVVRVGGEESEVTVGGLEPGRKYK
MHLYGLHEGRRVGPVSAVGVTAPEEESPDAPLAKLRLGQMTVRDITSDSLSLSWTVPEGQ
FDHFLVQFKNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPVSAVGLT
APGKDEEMAPASTEPPTPEPPIKPRLEELTVTDATPDSLSLSWTVPEGQFDHFLVQYKNG
DGQPKATRVPGHEDRVTISGLEPDNKYKMNLYGFHGGQRVGPVSAIGVTAAEEETPSPTE
PSMEAPEPPEEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQVVRVGGE
ESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSTVGVTAPQEDVDETPSPTEPGTEAPGPP
EEPLLGELTVTGSSPDSLSLSWTVPQGRFDSFTVQYKDRDGRPQAVRVGGQESKVTVRGL
EPGRKYKMHLYGLHEGRRLGPVSAVGVTEDEAETTQAVPTMTPEPPIKPRLGELTMTDAT
PDSLSLSWTVPEGQFDHFLVQYRNGDGQPKAVRVPGHEDGVTISGLEPDHKYKMNLYGFH
GGQRVGPISVIGVTAAEEETPSPTELSTEAPEPPEEPLLGELTVTGSSPDSLSLSWTIPQ
GHFDSFTVQYKDRDGRPQVMRVRGEESEVTVGGLEPGRKYKMHLYGLHEGRRVGPVSTVG
VTAPEDEAETTQAVPTTTPEPPNKPRLGELTVTDATPDSLSLSWMVPEGQFDHFLVQYRN
GDGQPKVVRVPGHEDGVTISGLEPDHKYKMNLYGFHGGQRVGPISVIGVTAAEEETPAPT
EPSTEAPEPPEEPLLGELTVTGSSPDSLSLSWTIPQGRFDSFTVQYKDRDGRPQVVRVRG
EESEVTVGGLEPGCKYKMHLYGLHEGQRVGPVSAVGVTAPKDEAETTQAVPTMTPEPPIK
PRLGELTVTDATPDSLSLSWMVPEGQFDHFLVQYRNGDGQPKAVRVPGHEDGVTISGLEP
DHKYKMNLYGFHGGQRVGPVSAIGVTEEETPSPTEPSTEAPEAPEEPLLGELTVTGSSPD
SLSLSWTVPQGRFDSFTVQYKDRDGQPQVVRVRGEESEVTVGGLEPGRKYKMHLYGLHEG
QRVGPVSTVGITAPLPTPLPVEPRLGELAVAAVTSDSVGLSWTVAQGPFDSFLVQYRDAQ
GQPQAVPVSGDLRAVAVSGLDPARKYKFLLFGLQNGKRHGPVPVEARTAPDTKPSPRLGE
LTVTDATPDSVGLSWTVPEGEFDSFVVQYKDKDGRLQVVPVAANQREVTVQGLEPSRKYR
FLLYGLSGRKRLGPISADSTTAPLEKELPPHLGELTVAEETSSSLRLSWTVAQGPFDSFV
VQYRDTDGQPRAVPVAADQRTVTVEDLEPGKKYKFLLYGLLGGKRLGPVSALGMTAPEED
TPAPELAPEAPEPPEEPRLGVLTVTDTTPDSMRLSWSVAQGPFDSFVVQYEDTNGQPQAL
LVDGDQSKILISGLEPSTPYRFLLYGLHEGKRLGPLSAEGTTGLAPAGQTSEESRPRLSQ
LSVTDVTTSSLRLNWEAPPGAFDSFLLRFGVPSPSTLEPHPRPLLQRELMVPGTRHSAVL
RDLRSGTLYSLTLYGLRGPHKADSIQGTARTLSPVLESPRDLQFSEIRETSAKVNWMPPP
SRADSFKVSYQLADGGEPQSVQVDGQARTQKLQGLIPGARYEVTVVSVRGFEESEPLTGF
LTTVPDGPTQLRALNLTEGFAVLHWKPPQNPVDTYDVQVTAPGAPPLQAETPGSAVDYPL
HDLVLHTNYTATVRGLRGPNLTSPASITFTTGLEAPRDLEAKEVTPRTALLTWTEPPVRP
AGYLLSFHTPGGQNQEILLPGGITSHQLLGLFPSTSYNARLQAMWGQSLLPPVSTSFTTG
GLRIPFPRDCGEEMQNGAGASRTSTIFLNGNRERPLNVFCDMETDGGGWLVFQRRMDGQT
DFWRDWEDYAHGFGNISGEFWLGNEALHSLTQAGDYSMRVDLRAGDEAVFAQYDSFHVDS
AAEYYRLHLEGYHGTAGDSMSYHSGSVFSARDRDPNSLLISCAVSYRGAWWYRNCHYANL
NGLYGSTVDHQGVSWYHWKGFEFSVPFTEMKLRPRNFRSPAGGG
Sequence length 4244
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Human papillomavirus infection
MicroRNAs in cancer 		  ECM proteoglycans
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ehlers-Danlos Syndrome Ehlers-Danlos syndrome due to tenascin-X deficiency rs749890642, rs764070148, rs144556766, rs587777682 N/A
Vesicoureteral Reflux vesicoureteral reflux 8 rs587777684 N/A
Show/Hide Unknown Diseases (15)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cervical Cancer Cervical cancer N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Dental caries Dental caries N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Show/Hide Text Mining Associations (81)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 26356813
Adrenal hyperplasia 2 Associate 27297501, 36833192
Adrenal Hyperplasia Congenital Associate 10207042, 19921645, 23284009, 24380766, 26075496, 27297501, 31229653, 31666125, 33332743, 36264454, 36833192
Alopecia Areata Associate 29080678
Aneurysm Associate 39382597
Aortic Aneurysm Abdominal Associate 21048318
Aortic Dissection Associate 40650310
Arthritis Juvenile Stimulate 36167601
Ascending aortic aneurysm hypertelorism bifid uvula cleft palate and arterial tortuosity Associate 19921645
Asthma Associate 32867763