GPR126

ADGRG6
معین‌کننده‌ها
نام‌های دیگر	ADGRG6, APG1, DREG, PS1TP2, VIGR, GPR126, LCCS9, adhesion G protein-coupled receptor G6, PR126
شناسه‌های بیرونی	OMIM: 612243 MGI: 1916151 HomoloGene: 10724 GeneCards: ADGRG6
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)[1]
End	14,545,659 bp[1]
الگوی گسترش RNA
	More reference expression data
هستی‌شناسی ژن
عملکرد ملکولی	• collagen binding; • signal transducer activity; • extracellular matrix binding; • transmembrane signaling receptor activity; • G protein-coupled receptor activity; • laminin binding;
ترکیبات سلولی	• integral component of membrane; • membrane; • intracellular anatomical structure; • پوسته یاخته; • integral component of plasma membrane;
فرایند زیستی	• myelination; • G protein-coupled receptor signaling pathway; • cell surface receptor signaling pathway; • ورارسانی پیام; • mitochondrion organization; • Schwann cell differentiation; • cAMP-mediated signaling; • myelination in peripheral nervous system; • heart trabecula formation; • adenylate cyclase-activating G protein-coupled receptor signaling pathway;
	Sources:آمیگو / کوئیک‌گو
هم‌ساخت‌شناسی
	57211
	215798
	ENSG00000112414
	ENSMUSG00000039116
	Q86SQ4
	Q6F3F9
	NM_001032394، NM_001032395، NM_020455، NM_198569، XM_005267061، XM_006715516، XM_006715517، XM_006715518، XM_017011085 XM_011535964، NM_001032394، NM_001032395، NM_020455، NM_198569، XM_005267061، XM_006715516، XM_006715517، XM_006715518، XM_017011085
	XM_006512678، XM_006512679، XM_006512680، XM_006512681، XM_006512682، XM_017313881، XM_030245001 NM_001002268، XM_006512678، XM_006512679، XM_006512680، XM_006512681، XM_006512682، XM_017313881، XM_030245001
	NP_001027567، NP_065188، NP_940971، XP_005267118، XP_006715579، XP_006715580، XP_006715581، XP_011534266، XP_016866574 NP_001027566، NP_001027567، NP_065188، NP_940971، XP_005267118، XP_006715579، XP_006715580، XP_006715581، XP_011534266، XP_016866574
	XP_006512741، XP_006512742، XP_006512743، XP_006512744، XP_006512745، XP_017169370، XP_030100861، XP_036011624 NP_001002268، XP_006512741، XP_006512742، XP_006512743، XP_006512744، XP_006512745، XP_017169370، XP_030100861، XP_036011624
	ویکی‌داده
مشاهده/ویرایش Human	View/Edit Mouse

گیرندهٔ شمارهٔ ۱۲۶ جفت‌شونده با پروتئین جی (انگلیسی: G protein-coupled receptor 126‎) که با نام‌های VIGR و DREG هم شناخته می‌شود، یک پروتئین است که در انسان توسط ژن «ADGRG6» کُدگذاری می‌شود.[4][5][6]

این گیرنده یکی از اعضای خانوادهٔ بزرگ «گیرنده‌های جفت‌شونده با پروتئین جی، ویژهٔ چسبندگی» است[7][8] و به میزان زیادی در سلول‌های بنیادی مزانشیمی بیان می‌شود.[9]

یکی از کارهای احتمالی این پروتئین، دخالت در تعیین قد انسان (به‌ویژه اندازهٔ تنهٔ بدن)،[10][11][12] عملکرد ریوی،[13] و بروز «کژپشتی نوجوانی با علت نامشخص»[14] باشد. در موش‌ها، این پروتئین با رشد و تکامل ستون مهره‌ها و غضروف‌های بدن مرتبط است.[15]

علاوه بر «کژپشتی نوجوانی با علت نامشخص»، جهش در ژنِ تولیدکنندهٔ این پروتئین با بروز «آرتروگریپوزیس چندگانهٔ مادرزادی» در ارتباط است.[16]

منابع

GRCm38: Ensembl release 89: ENSMUSG00000039116 - 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.
Fredriksson R, Gloriam DE, Höglund PJ, Lagerström MC, Schiöth HB (February 2003). "There exist at least 30 human G-protein-coupled receptors with long Ser/Thr-rich N-termini". Biochemical and Biophysical Research Communications. 301 (3): 725–34. doi:10.1016/S0006-291X(03)00026-3. PMID 12565841.
"Entrez Gene: GPR126 G protein-coupled receptor 126".
Hamann J, Aust G, Araç D, Engel FB, Formstone C, Fredriksson R, Hall RA, Harty BL, Kirchhoff C, Knapp B, Krishnan A, Liebscher I, Lin HH, Martinelli DC, Monk KR, Peeters MC, Piao X, Prömel S, Schöneberg T, Schwartz TW, Singer K, Stacey M, Ushkaryov YA, Vallon M, Wolfrum U, Wright MW, Xu L, Langenhan T, Schiöth HB (April 2015). "International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors". Pharmacological Reviews. 67 (2): 338–67. doi:10.1124/pr.114.009647. PMC 4394687. PMID 25713288.
Stacey M, Yona S (2011). Adhesion-GPCRs: Structure to Function (Advances in Experimental Medicine and Biology). Berlin: Springer. ISBN 1-4419-7912-3.
Langenhan T, Aust G, Hamann J (May 2013). "Sticky signaling--adhesion class G protein-coupled receptors take the stage". Science Signaling. 6 (276): re3. doi:10.1126/scisignal.2003825. PMID 23695165.
Hamann J, Aust G, Araç D, Engel FB, Formstone C, Fredriksson R, Hall RA, Harty BL, Kirchhoff C, Knapp B, Krishnan A, Liebscher I, Lin HH, Martinelli DC, Monk KR, Peeters MC, Piao X, Prömel S, Schöneberg T, Schwartz TW, Singer K, Stacey M, Ushkaryov YA, Vallon M, Wolfrum U, Wright MW, Xu L, Langenhan T, Schiöth HB (Apr 2015). "International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors". Pharmacological Reviews. 67 (2): 338–67. doi:10.1124/pr.114.009647. PMC 4394687. PMID 25713288.
Gudbjartsson DF, Walters GB, Thorleifsson G, Stefansson H, Halldorsson BV, Zusmanovich P, et al. (May 2008). "Many sequence variants affecting diversity of adult human height". Nature Genetics. 40 (5): 609–15. doi:10.1038/ng.122. PMID 18391951.
Lettre G, Jackson AU, Gieger C, Schumacher FR, Berndt SI, Sanna S, et al. (May 2008). "Identification of ten loci associated with height highlights new biological pathways in human growth". Nature Genetics. 40 (5): 584–91. doi:10.1038/ng.125. PMC 2687076. PMID 18391950.
Soranzo N, Rivadeneira F, Chinappen-Horsley U, Malkina I, Richards JB, Hammond N, et al. (April 2009). "Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size". PLoS Genetics. 5 (4): e1000445. doi:10.1371/journal.pgen.1000445. PMC 2661236. PMID 19343178.
Hancock DB, Eijgelsheim M, Wilk JB, Gharib SA, Loehr LR, Marciante KD, et al. (January 2010). "Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function". Nature Genetics. 42 (1): 45–52. doi:10.1038/ng.500. PMC 2832852. PMID 20010835.
Kou I, Takahashi Y, Johnson TA, Takahashi A, Guo L, Dai J, et al. (June 2013). "Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis". Nature Genetics. 45 (6): 676–9. doi:10.1038/ng.2639. PMID 23666238.
Karner CM, Long F, Solnica-Krezel L, Monk KR, Gray RS (August 2015). "Gpr126/Adgrg6 deletion in cartilage models idiopathic scoliosis and pectus excavatum in mice". Human Molecular Genetics. 24 (15): 4365–73. doi:10.1093/hmg/ddv170. PMC 4492399. PMID 25954032.
Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, et al. (June 2015). "Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita". American Journal of Human Genetics. 96 (6): 955–61. doi:10.1016/j.ajhg.2015.04.014. PMC 4457946. PMID 26004201.

مشارکت‌کنندگان ویکی‌پدیا. «GPR126». در دانشنامهٔ ویکی‌پدیای انگلیسی، بازبینی‌شده در ۲۹ دسامبر ۲۰۱۸.

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[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000039116 - Ensembl, May 2017

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

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

[pmid12565841-4] Fredriksson R, Gloriam DE, Höglund PJ, Lagerström MC, Schiöth HB (February 2003). "There exist at least 30 human G-protein-coupled receptors with long Ser/Thr-rich N-termini". Biochemical and Biophysical Research Communications. 301 (3): 725–34. doi:10.1016/S0006-291X(03)00026-3. PMID 12565841.

[entrez-5] "Entrez Gene: GPR126 G protein-coupled receptor 126".

[6] Hamann J, Aust G, Araç D, Engel FB, Formstone C, Fredriksson R, Hall RA, Harty BL, Kirchhoff C, Knapp B, Krishnan A, Liebscher I, Lin HH, Martinelli DC, Monk KR, Peeters MC, Piao X, Prömel S, Schöneberg T, Schwartz TW, Singer K, Stacey M, Ushkaryov YA, Vallon M, Wolfrum U, Wright MW, Xu L, Langenhan T, Schiöth HB (April 2015). "International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors". Pharmacological Reviews. 67 (2): 338–67. doi:10.1124/pr.114.009647. PMC 4394687. PMID 25713288.

[isbn1-4419-7912-3-7] Stacey M, Yona S (2011). Adhesion-GPCRs: Structure to Function (Advances in Experimental Medicine and Biology). Berlin: Springer. ISBN 1-4419-7912-3.

[8] Langenhan T, Aust G, Hamann J (May 2013). "Sticky signaling--adhesion class G protein-coupled receptors take the stage". Science Signaling. 6 (276): re3. doi:10.1126/scisignal.2003825. PMID 23695165.

[9] Hamann J, Aust G, Araç D, Engel FB, Formstone C, Fredriksson R, Hall RA, Harty BL, Kirchhoff C, Knapp B, Krishnan A, Liebscher I, Lin HH, Martinelli DC, Monk KR, Peeters MC, Piao X, Prömel S, Schöneberg T, Schwartz TW, Singer K, Stacey M, Ushkaryov YA, Vallon M, Wolfrum U, Wright MW, Xu L, Langenhan T, Schiöth HB (Apr 2015). "International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors". Pharmacological Reviews. 67 (2): 338–67. doi:10.1124/pr.114.009647. PMC 4394687. PMID 25713288.

[10] Gudbjartsson DF, Walters GB, Thorleifsson G, Stefansson H, Halldorsson BV, Zusmanovich P, et al. (May 2008). "Many sequence variants affecting diversity of adult human height". Nature Genetics. 40 (5): 609–15. doi:10.1038/ng.122. PMID 18391951.

[11] Lettre G, Jackson AU, Gieger C, Schumacher FR, Berndt SI, Sanna S, et al. (May 2008). "Identification of ten loci associated with height highlights new biological pathways in human growth". Nature Genetics. 40 (5): 584–91. doi:10.1038/ng.125. PMC 2687076. PMID 18391950.

[12] Soranzo N, Rivadeneira F, Chinappen-Horsley U, Malkina I, Richards JB, Hammond N, et al. (April 2009). "Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size". PLoS Genetics. 5 (4): e1000445. doi:10.1371/journal.pgen.1000445. PMC 2661236. PMID 19343178.

[13] Hancock DB, Eijgelsheim M, Wilk JB, Gharib SA, Loehr LR, Marciante KD, et al. (January 2010). "Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function". Nature Genetics. 42 (1): 45–52. doi:10.1038/ng.500. PMC 2832852. PMID 20010835.

[ReferenceB-14] Kou I, Takahashi Y, Johnson TA, Takahashi A, Guo L, Dai J, et al. (June 2013). "Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis". Nature Genetics. 45 (6): 676–9. doi:10.1038/ng.2639. PMID 23666238.

[15] Karner CM, Long F, Solnica-Krezel L, Monk KR, Gray RS (August 2015). "Gpr126/Adgrg6 deletion in cartilage models idiopathic scoliosis and pectus excavatum in mice". Human Molecular Genetics. 24 (15): 4365–73. doi:10.1093/hmg/ddv170. PMC 4492399. PMID 25954032.

[16] Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, et al. (June 2015). "Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita". American Journal of Human Genetics. 96 (6): 955–61. doi:10.1016/j.ajhg.2015.04.014. PMC 4457946. PMID 26004201.