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FMNL2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4YC7
Identifiers
Aliases	FMNL2, FHOD2, formin like 2
External IDs	OMIM: 616285; MGI: 1918659; HomoloGene: 70871; GeneCards: FMNL2; OMA:FMNL2 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q23.3 Start 152,335,174 bp End 152,649,826 bp
Gene location (Mouse) Chr. Chromosome 2 (mouse) Band 2|2 C1.1 Start 52,747,872 bp End 53,023,816 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in inferior ganglion of vagus nerve corpus callosum subthalamic nucleus external globus pallidus Medulla Oblongata pars reticulata superior vestibular nucleus ventral tegmental area pars compacta internal globus pallidus Top expressed in otolith organ utricle superior cervical ganglion sciatic nerve hand ciliary body Epithelium of choroid plexus trigeminal ganglion condyle stria vascularis More reference expression data BioGPS n/a
Gene ontology Molecular function actin binding cadherin binding GTPase activating protein binding Cellular component cytoplasm cytosol Biological process regulation of cell morphogenesis cortical actin cytoskeleton organization cytoskeleton organization actin cytoskeleton organization cellular component organization regulation of cell shape Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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
Wikidata
View/Edit Human View/Edit Mouse

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

Expression

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

Function

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

Clinical significance

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

Clinical studies showed that single nucleotide polymorphisms in the FMNL2 gene are associated with cardio and cerebrovascular risk factors and Alzheimer's disease 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.

See also

• FMNL1
• FMNL3

References

1. ^ GRCh38: Ensembl release 89: ENSG00000157827 – Ensembl, May 2017
2. ^ 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. ^ "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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