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TMEM230
Identifiers
Aliases	TMEM230, C20orf30, HSPC274, dJ1116H23.2.1, transmembrane protein 230
External IDs	OMIM: 617019; MGI: 1917862; HomoloGene: 8561; GeneCards: TMEM230; OMA:TMEM230 - orthologs
Gene location (Human) Chr. Chromosome 20 (human) Band 20p13-p12.3 Start 5,068,232 bp End 5,113,103 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 F2 Start 132,081,412 bp End 132,089,727 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gallbladder C1 segment right adrenal cortex smooth muscle tissue substantia nigra left adrenal gland left adrenal cortex islet of Langerhans Hypothalamus endometrium Top expressed in spermatocyte neural layer of retina zygote secondary oocyte primary oocyte spermatid genital tubercle yolk sac skeletal muscle tissue tail of embryo More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 29058 70612 Ensembl ENSG00000089063 ENSMUSG00000027341 UniProt Q96A57 Q8CIB6 RefSeq (mRNA) NM_001009923 NM_001009924 NM_001009925 NM_014145 NM_001330984 NM_001330985 NM_001330986 NM_001330987 NM_001141971 NM_027478 RefSeq (protein) NP_001009923 NP_001009924 NP_001009925 NP_001317913 NP_001317914 NP_001317915 NP_001317916 NP_054864 NP_001135443 NP_081754 Location (UCSC) Chr 20: 5.07 – 5.11 Mb Chr 2: 132.08 – 132.09 Mb PubMed search
Wikidata
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TMEM230 or transmembrane protein 230 is a protein that in humans is encoded by the TMEM230 gene.

Function

This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicles in the neuron and may be involved in synaptic vesicle trafficking and recycling. Mutations in this gene may be linked to familial Parkinson's disease.

More recent research demonstrates that TMEM230 has a role in the secretory pathway of cells, and in human normal and disease development associated with the cellular functions of sprouting, migration and tissue remodeling. Single-cell transcriptomic analysis supported that aberrantly elevated levels of TMEM230 promotes autoimmunity, such as rheumatoid arthritis. TMEM230 was also identified in the most aggressive brain cancer. In a study of human patient transcriptomic sequencing analysis with gliobolastoma mulfiforme (GBM) combined with in vitro tumor glioma cell analysis, high expression of TMEM230 was correlated with vascular mimicry behavior and aggressive formation of "leaky blood vessels". Shortened life-span and high mortality observed in patients with GBM was hypothesized to be due to high TMEM230 expression promoting unregulated secretion of cellular factors and vesicles with destructive tissue remodeling capacity. TMEM230 was identified with genes co-regulated with endoplasmic reticulum and the Golgi complex, motor proteins, metalloproteins (such as metalloproteinases), and mitochondria and extracellular secretion activities. In U-87 MG cells (a human glioblastoma cell line), down-regulation of TMEM230 resulted in loss of tumor properties of these cells and the inability of U-87 MG to promote tumor associated angiogenesis in 3D human organoids brain like tumor models. As TMEM230 was identified down-stream to the VEGF (Vascular Endothelial Growth Factor) signaling pathway in tumor cells and human umbilical vein endothelial cells (HUVECs), TMEM230 is hypothesized to be a target for anticancer and tumor associated angiogenesis research and may represent an alternative to anti-VEGF for tumor treatment.

In normal vertebrate embryo development, TMEM230 was identified as a master regulator of normal blood vessel formation, and in particular in stalk and sprout cell fate determination associated with lateral inhibition associated with NOTCH signaling. Specific levels of TMEM230 mRNA was necessary for endothelial cell movement and fusion of blood vessels in zebrafish, a model of early embryo development for blood vessel formation.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000089063 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000027341 – 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.
5. "Entrez Gene: Transmembrane protein 230". Retrieved 2018-07-18.
6. Cocola C, Magnaghi V, Abeni E, Pelucchi P, Martino V, Vilardo L, Piscitelli E, Consiglio A, Grillo G, Mosca E, Gualtierotti R, Mazzaccaro D, La Sala G, Di Pietro C, Palizban M, Liuni S, DePedro G, Morara S, Nano G, Kehler J, Greve B, Noghero A, Marazziti D, Bussolino F, Bellipanni G, D'Agnano I, Götte M, Zucchi I, Reinbold R (November 2021). "Transmembrane Protein TMEM230, a Target of Glioblastoma Therapy". Front Cell Neurosci. 15. doi:10.3389/fncel.2021.703431. PMC 8636015. PMID 34867197.
7. Abeni E, Cocola C, Croci S, Martino V, Piscitelli E, Gualtierotti R, Pelucchi P, Tria V, Porta G, Troschel F, Greve B, Nano G, Tomilin A, Kehler J, Gerovska D, Mazzaccaro D, Götte M, Arauzo-Bravo M, Carlo S, Zucchi I, Reinbold RA (June 2024). "Single-cell transcriptomic analysis to identify endomembrane regulation of metalloproteins and motor proteins in autoimmunity". Advances in Protein Chemistry and Structural Biology. 141. Academic Press: 299–329. doi:10.1016/bs.apcsb.2024.03.007. ISBN 978-0-443-19344-6. ISSN 1876-1623. PMID 38960478.
8. Cocola C, Abeni E, Martino V, Piscitelli E, Pelucchi P, Mosca E, Chiodi A, Mohamed T, Palizban M, Porta G, Palizban H, Nano G, Acquati F, Bruno A, Greve B, Gerovska D, Magnaghi V, Mazzaccaro D, Bertalot G, Kehler J, Balbino C, Arauzo-Bravo MJ, Götte M, Zucchi I, Reinbold RA (April 2024). "Transmembrane Protein TMEM230, Regulator of Glial Cell Vascular Mimicry and Endothelial Cell Angiogenesis in High-Grade Heterogeneous Infiltrating Gliomas and Glioblastoma". Int J Mol Sci. 25 (7): 3967. doi:10.3390/ijms25073967. PMC 11011566. PMID 38612777.
9. ^ Carra S, Sangiorgio L, Pelucchi P, Cermenati S, Mezzelani A, Martino V, Palizban M, Albertini A, Götte M, Kehler J, Deflorian G, Beltrame M, Giordano A, Reinbold R, Cotelli F, Bellipanni G, Zucchi I (February 2018). "Zebrafish Tmem230a cooperates with the Delta/Notch signaling pathway to modulate endothelial cell number in angiogenic vessels". J Cell Physiol. 233 (2): 1455–1467. doi:10.1002/jcp.26032. hdl:2434/518793. PMID 28542953.

Further reading

• Casabonne D, Reina O, Benavente Y, Becker N, Maynadié M, Foretová L, Cocco P, González-Neira A, Nieters A, Boffetta P, Middeldorp JM, de Sanjose S (February 2011). "Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph". Haematologica. 96 (2): 323–7. doi:10.3324/haematol.2010.031161. PMC 3031703. PMID 21048031.
• Deng HX, Shi Y, Yang Y, Ahmeti KB, Miller N, Huang C, Cheng L, Zhai H, Deng S, Nuytemans K, Corbett NJ, Kim MJ, Deng H, Tang B, Yang Z, Xu Y, Chan P, Huang B, Gao XP, Song Z, Liu Z, Fecto F, Siddique N, Foroud T, Jankovic J, Ghetti B, Nicholson DA, Krainc D, Melen O, Vance JM, Pericak-Vance MA, Ma YC, Rajput AH, Siddique T (July 2016). "Identification of TMEM230 mutations in familial Parkinson's disease". Nat. Genet. 48 (7): 733–9. doi:10.1038/ng.3589. PMC 6047531. PMID 27270108.
• Yan W, Tang B, Zhou X, Lei L, Li K, Sun Q, Xu Q, Yan X, Guo J, Liu Z (January 2017). "TMEM230 mutation analysis in Parkinson's disease in a Chinese population". Neurobiol. Aging. 49: 219.e1–219.e3. doi:10.1016/j.neurobiolaging.2016.10.007. PMID 27814995. S2CID 3896849.
• Giri A, Mok KY, Jansen I, Sharma M, Tesson C, Mangone G, Lesage S, Bras JM, Shulman JM, Sheerin UM, Díez-Fairen M, Pastor P, Martí MJ, Ezquerra M, Tolosa E, Correia-Guedes L, Ferreira J, Amin N, van Duijn CM, van Rooij J, Uitterlinden AG, Kraaij R, Nalls M, Simón-Sánchez J (February 2017). "Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population". Neurobiol. Aging. 50: 167.e11–167.e13. doi:10.1016/j.neurobiolaging.2016.10.004. PMC 5812479. PMID 27818000.
• Kim MJ, Deng HX, Wong YC, Siddique T, Krainc D (February 2017). "The Parkinson's disease-linked protein TMEM230 is required for Rab8a-mediated secretory vesicle trafficking and retromer trafficking". Hum. Mol. Genet. 26 (4): 729–741. doi:10.1093/hmg/ddw413. PMC 6251589. PMID 28115417.
• Ibanez L, Dube U, Budde J, Black K, Medvedeva A, Davis AA, Perlmutter JS, Benitez BA, Cruchaga C (August 2017). "TMEM230 in Parkinson's disease". Neurobiol. Aging. 56: 212.e1–212.e3. doi:10.1016/j.neurobiolaging.2017.03.014. PMC 5526081. PMID 28457580.
• Siedlak SL, Jiang Y, Huntley ML, Wang L, Gao J, Xie F, Liu J, Su B, Perry G, Wang X (2017). "TMEM230 Accumulation in Granulovacuolar Degeneration Bodies and Dystrophic Neurites of Alzheimer's Disease". J. Alzheimer's Dis. 58 (4): 1027–1033. doi:10.3233/JAD-170190. PMID 28527219.
• Mandemakers W, Quadri M, Stamelou M, Bonifati V (August 2017). "TMEM230: How does it fit in the etiology and pathogenesis of Parkinson's disease?". Mov. Disord. 32 (8): 1159–1162. doi:10.1002/mds.27061. PMID 28568905. S2CID 13931932.
• Ma D, Foo JN, Yulin Ng E, Zhao Y, Liu JJ, Tan EK (October 2017). "Screening for TMEM230 mutations in young-onset Parkinson's disease". Neurobiol. Aging. 58: 239.e9–239.e10. doi:10.1016/j.neurobiolaging.2017.06.011. PMID 28709721. S2CID 21503418.
• Cocola C, Magnaghi V, Abeni E, Pelucchi P, Martino V, Vilardo L, Piscitelli E, Consiglio A, Grillo G, Mosca E, Gualtierotti R, Mazzaccaro D, La Sala G, Di Pietro C, Palizban M, Liuni S, DePedro G, Morara S, Nano G, Kehler J, Greve B, Noghero A, Marazziti D, Bussolino F, Bellipanni G, D'Agnano I, Götte M, Zucchi I, Reinbold R (November 2021). "Transmembrane Protein TMEM230, a Target of Glioblastoma Therapy". Front Cell Neurosci. 15. doi:10.3389/fncel.2021.703431. PMC 8636015. PMID 34867197.
• Cocola C, Abeni E, Martino V, Piscitelli E, Pelucchi P, Mosca E, Chiodi A, Mohamed T, Palizban M, Porta G, Palizban H, Nano G, Acquati F, Bruno A, Greve B, Gerovska D, Magnaghi V, Mazzaccaro D, Bertalot G, Kehler J, Balbino C, Arauzo-Bravo MJ, Götte M, Zucchi I, Reinbold RA (April 2024). "Transmembrane Protein TMEM230, Regulator of Glial Cell Vascular Mimicry and Endothelial Cell Angiogenesis in High-Grade Heterogeneous Infiltrating Gliomas and Glioblastoma". Int J Mol Sci. 25 (7): 3967. doi:10.3390/ijms25073967. PMC 11011566. PMID 38612777.
• Carra S, Sangiorgio L, Pelucchi P, Cermenati S, Mezzelani A, Martino V, Palizban M, Albertini A, Götte M, Kehler J, Deflorian G, Beltrame M, Giordano A, Reinbold R, Cotelli F, Bellipanni G, Zucchi I (February 2018). "Zebrafish Tmem230a cooperates with the Delta/Notch signaling pathway to modulate endothelial cell number in angiogenic vessels". J Cell Physiol. 233 (2): 1455–1467. doi:10.1002/jcp.26032. hdl:2434/518793. PMID 28542953.
• Cocola C, Abeni E, Martino V, Eleonora Piscitelli E, Stefano Morara S, Pelucchi P, Mosca E, Chiodi A, Mohamed T, Palizban M, De Petro G, Porta G, Greve B, Noghero A, Magnaghi V, Bellipanni G, Kehler J, Götte M, Bussolino F, Milanesi L, Zucchi I, Reinbold RA (June 2024). "Transmembrane protein TMEM230, regulator of metalloproteins and motor proteins in gliomas and gliosis". Advances in Protein Chemistry and Structural Biology. 141. Academic Press: 255–297. doi:10.1016/bs.apcsb.2024.03.006. hdl:11379/604605. ISBN 978-0-443-19344-6. ISSN 1876-1623.
• Abeni E, Cocola C, Croci S, Martino V, Piscitelli E, Gualtierotti R, Pelucchi P, Tria V, Porta G, Troschel F, Greve B, Nano G, Tomilin A, Kehler J, Gerovska D, Mazzaccaro D, Götte M, Arauzo-Bravo M, Carlo S, Zucchi I, Reinbold RA (June 2024). "Single-cell transcriptomic analysis to identify endomembrane regulation of metalloproteins and motor proteins in autoimmunity". Advances in Protein Chemistry and Structural Biology. 141. Academic Press: 299–329. doi:10.1016/bs.apcsb.2024.03.007. ISBN 978-0-443-19344-6. ISSN 1876-1623. PMID 38960478.

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