FMNL2

Last updated
FMNL2
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases FMNL2 , FHOD2, formin like 2
External IDs OMIM: 616285; MGI: 1918659; HomoloGene: 70871; GeneCards: FMNL2; OMA:FMNL2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

114793

71409

Ensembl

ENSG00000157827

ENSMUSG00000036053

UniProt

Q96PY5

A2APV2

RefSeq (mRNA)

NM_001004417
NM_001004421
NM_001004422
NM_052905

NM_172409

RefSeq (protein)

NP_443137

NP_765997
NP_001395244
NP_001395245
NP_001395246

Location (UCSC) Chr 2: 152.34 – 152.65 Mb Chr 2: 52.75 – 53.02 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Formin-like protein 2 is a protein that in humans is encoded by the FMNL2 gene. [5] [6]

Contents

Expression

Alternatively spliced transcript variants of the FMNL2 gene encoding different isoforms have been described. [5] The full length FMNL2 (FRL3) protein (1092 amino acids-NCBI Reference Sequence: NP_443137.2 [7] ) is regulated through autoinhibition, and may become activated through Rho proteins. [8] The FMNL2 gene is expressed in multiple human tissues. [9]

Function

Formin-like protein 2 is a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. [5]

Clinical significance

FMNL2 expression is considerably higher in colorectal cancer tumors compared to normal tissue. [10]

Clinical studies showed that single nucleotide polymorphisms in the FMNL2 gene are associated with cardio and cerebrovascular risk factors and Alzheimer's disease [11] FMNL2 links vascular disease to increased risk of Alzheimer's disease by regulating the interaction between astrocytes and blood vessels in healthy and Alzheimer's disease brains. [12]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000157827 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000036053 – 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. 1 2 3 "Entrez Gene: FMNL2 formin-like 2".
  6. ↑ Katoh M, Katoh M (May 2003). "Identification and characterization of human FMNL1, FMNL2 and FMNL3 genes in silico". Int. J. Oncol. 22 (5): 1161–8. doi:10.3892/ijo.22.5.1161. PMID   12684686.
  7. ↑ "formin-like protein 2 [Homo sapiens]" (NCBI Reference Sequence: NP_443137.2). National Center for Biotechnology Information, U.S. National Library of Medicine.
  8. ↑ Kitzing TM, Wang Y, Pertz O, Copeland JW, Grosse R (April 2010). "Formin-like 2 drives amoeboid invasive cell motility downstream of RhoC". Oncogene. 29 (16): 2441–8. doi: 10.1038/onc.2009.515 . PMID   20101212.
  9. ↑ Gardberg M, Talvinen K, Kaipio K, Iljin K, Kampf C, Uhlen M, Carpén O (2010). "Characterization of Diaphanous-related formin FMNL2 in human tissues". BMC Cell Biol. 11: 55. doi: 10.1186/1471-2121-11-55 . PMC   2912821 . PMID   20633255.
  10. ↑ Zhu XL, Liang L, Ding YQ (November 2008). "Overexpression of FMNL2 is closely related to metastasis of colorectal cancer". Int J Colorectal Dis. 23 (11): 1041–7. doi:10.1007/s00384-008-0520-2. PMID   18665374. S2CID   22119273.
  11. ↑ Lee AJ, Raghavan NS, Bhattarai P, Siddiqui T, Sariya S, Reyes-Dumeyer D, et al. (May 2022). "FMNL2 regulates gliovascular interactions and is associated with vascular risk factors and cerebrovascular pathology in Alzheimer's disease". Acta Neuropathologica. 144 (1): 59–79. doi:10.1007/s00401-022-02431-6. PMC   9217776 . PMID   35608697.
  12. ↑ "Missing Link Between Alzheimer's and Vascular Disease Found?". 24 May 2022.


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