Protein-coding gene in the species Homo sapiens
FMNL2 |
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Available structures |
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PDB | Ortholog search: PDBe RCSB |
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Identifiers |
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Aliases | FMNL2, FHOD2, formin like 2 |
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External IDs | OMIM: 616285; MGI: 1918659; HomoloGene: 70871; GeneCards: FMNL2; OMA:FMNL2 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 2 (human)[1] |
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| Band | 2q23.3 | Start | 152,335,174 bp[1] |
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End | 152,649,826 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 2 (mouse)[2] |
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| Band | 2|2 C1.1 | Start | 52,747,872 bp[2] |
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End | 53,023,816 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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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
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| Top expressed in | - otolith organ
- utricle
- superior cervical ganglion
- sciatic nerve
- hand
- ciliary body
- Epithelium of choroid plexus
- trigeminal ganglion
- condyle
- stria vascularis
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - actin binding
- cadherin binding
- GTPase activating protein binding
| Cellular component | | 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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_001004417 NM_001004421 NM_001004422 NM_052905 |
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RefSeq (protein) | | |
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NP_765997 NP_001395244 NP_001395245 NP_001395246 |
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Location (UCSC) | Chr 2: 152.34 – 152.65 Mb | Chr 2: 52.75 – 53.02 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Formin-like protein 2 is a protein that in humans is encoded by the FMNL2 gene.[5][6]
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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000157827 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036053 – 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.
- ^ a b c "Entrez Gene: FMNL2 formin-like 2".
- ^ 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.
- ^ "formin-like protein 2 [Homo sapiens]" (NCBI Reference Sequence: NP_443137.2). National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ "Missing Link Between Alzheimer's and Vascular Disease Found?". 24 May 2022.