Tenascin X

TNXB
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	2CUH, 2CUI, 2CUM
Identifiers
Aliases	TNXB, EDS3, HXBL, TENX, TN-X, TNX, TNXB1, TNXB2, TNXBS, VUR8, XB, XBS, tenascin XB, EDSCLL, EDSCLL1
External IDs	OMIM: 600985; MGI: 1932137; HomoloGene: 49589; GeneCards: TNXB; OMA:TNXB - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	32,115,334 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	34,938,789 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; right adrenal cortex; ; left adrenal gland; ; left adrenal cortex; ; gastric mucosa; ; right auricle; ; body of uterus; ; left ovary; ; myometrium; ; tibial nerve;
	Top expressed in
	ankle joint; ; ankle; ; extraocular muscle; ; sciatic nerve; ; tunica media of zone of aorta; ; plantaris muscle; ; extensor digitorum longus muscle; ; lactiferous gland; ; skin of external ear; ; medial head of gastrocnemius muscle;
	More reference expression data
	n/a
Gene ontology
Molecular function	integrin binding; protein binding; heparin binding; extracellular matrix structural constituent; collagen fibril binding;
Cellular component	extracellular matrix; intracellular anatomical structure; fibrillar collagen trimer; extracellular exosome; extracellular space; extracellular region; collagen-containing extracellular matrix;
Biological process	collagen fibril organization; collagen metabolic process; extracellular matrix organization; cell adhesion; elastic fiber assembly; actin cytoskeleton organization;
	Sources:Amigo / QuickGO
Orthologs
	7148
	81877
ENSG00000236236; ENSG00000236221; ENSG00000229353; ENSG00000229341; ENSG00000233323;
	ENSG00000231608; ENSG00000206258; ENSG00000168477
	ENSMUSG00000033327
	P22105
	n/a
	NM_032470; NM_019105; NM_001365276
	NM_031176
	NP_061978; NP_115859; NP_001352205
	n/a
	Wikidata
View/Edit Human	View/Edit Mouse

Tenascin X (TN-X), also known as flexillin or hexabrachion-like protein, is a 450kDa glycoprotein, a member of the tenascin family, that is expressed in connective tissues. In humans it is encoded by the TNXB gene.^[5]

The TN-X protein is expressed in many parts of the human body, including the skin, muscles, kidneys, blood vessels, and digestive tract.^[6]^[7]

Deficiencies in the TN-X protein due to mutations or not enough of it being produced (haploinsufficiency) can lead to a rare condition called classical-like Ehlers-Danlos syndrome (EDS). People with EDS may have loose joints and weak tissues because their bodies make defective collagen.^[8]

^ ^a ^b ^c ENSG00000236221, ENSG00000229353, ENSG00000229341, ENSG00000233323, ENSG00000231608, ENSG00000206258, ENSG00000168477 GRCh38: Ensembl release 89: ENSG00000236236, ENSG00000236221, ENSG00000229353, ENSG00000229341, ENSG00000233323, ENSG00000231608, ENSG00000206258, ENSG00000168477 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000033327 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Tee MK, Thomson AA, Bristow J, Miller WL (July 1995). "Sequences promoting the transcription of the human XA gene overlapping P450c21A correctly predict the presence of a novel, adrenal-specific, truncated form of tenascin-X". Genomics. 28 (2): 171–178. doi:10.1006/geno.1995.1128. PMID 8530023.
^ Valcourt U, Alcaraz LB, Exposito JY, Lethias C, Bartholin L (2015). "Tenascin-X: beyond the architectural function". Cell Adh Migr. 9 (1–2): 154–65. doi:10.4161/19336918.2014.994893. PMC 4422802. PMID 25793578.
^ Okuda-Ashitaka E, Matsumoto KI (2023). "Tenascin-X as a causal gene for classical-like Ehlers-Danlos syndrome". Front Genet. 14: 1107787. doi:10.3389/fgene.2023.1107787. PMC 10050494. PMID 37007968.
^ Miller WL, Merke DP (2018). "Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome". Horm Res Paediatr. 89 (5): 352–361. doi:10.1159/000481911. PMC 6057477. PMID 29734195.

[refGRCh38Ensembl-1] ENSG00000236221, ENSG00000229353, ENSG00000229341, ENSG00000233323, ENSG00000231608, ENSG00000206258, ENSG00000168477 GRCh38: Ensembl release 89: ENSG00000236236, ENSG00000236221, ENSG00000229353, ENSG00000229341, ENSG00000233323, ENSG00000231608, ENSG00000206258, ENSG00000168477 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000033327 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8530023-5] Tee MK, Thomson AA, Bristow J, Miller WL (July 1995). "Sequences promoting the transcription of the human XA gene overlapping P450c21A correctly predict the presence of a novel, adrenal-specific, truncated form of tenascin-X". Genomics. 28 (2): 171–178. doi:10.1006/geno.1995.1128. PMID 8530023.

[pmid25793578-6] Valcourt U, Alcaraz LB, Exposito JY, Lethias C, Bartholin L (2015). "Tenascin-X: beyond the architectural function". Cell Adh Migr. 9 (1–2): 154–65. doi:10.4161/19336918.2014.994893. PMC 4422802. PMID 25793578.

[pmid37007968-7] Okuda-Ashitaka E, Matsumoto KI (2023). "Tenascin-X as a causal gene for classical-like Ehlers-Danlos syndrome". Front Genet. 14: 1107787. doi:10.3389/fgene.2023.1107787. PMC 10050494. PMID 37007968.

[pmid29734195-8] Miller WL, Merke DP (2018). "Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome". Horm Res Paediatr. 89 (5): 352–361. doi:10.1159/000481911. PMC 6057477. PMID 29734195.

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Tenascin X

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