Wikipedia

TMEM230

TMEM230 or transmembrane protein 230 is a protein that in humans is encoded by the TMEM230 gene. [5]

TMEM230
Identifiers
AliasesTMEM230, C20orf30, HSPC274, dJ1116H23.2.1, transmembrane protein 230
External IDsOMIM: 617019; MGI: 1917862; HomoloGene: 8561; GeneCards: TMEM230; OMA:TMEM230 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

29058

70612

Ensembl

ENSG00000089063

ENSMUSG00000027341

UniProt

Q96A57

Q8CIB6

RefSeq (mRNA)

NM_001141971
NM_027478

RefSeq (protein)

NP_001135443
NP_081754

Location (UCSC)Chr 20: 5.07 – 5.11 MbChr 2: 132.08 – 132.09 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

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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.[6] Single-cell transcriptomic analysis supported that aberrantly elevated levels of TMEM230 promotes autoimmunity, such as rheumatoid arthritis.[7] TMEM230 was also identified in the most aggressive brain cancer.[8] 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.[9]

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.[9] 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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000089063 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b 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

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