INF2

INF，FH2及WH2领域包括
INF，FH2及WH2领域包括
标识
代号	INF2; C14orf151; C14orf173; CMTDIE; FSGS5; pp9484
扩展标识	遗传学：610982 鼠基因：1917685 同源基因：82406 GeneCards: INF2 Gene
基因本体论描述
分子功能	· actin binding; · Rho GTPase binding;
细胞成分	· nucleus; · cytoplasm; · endoplasmic reticulum; · perinuclear region of cytoplasm;
生物过程	· cell death; · actin cytoskeleton organization; · regulation of cellular component size; · regulation of mitochondrial fission;
	Sources: Amigo / QuickGO
RNA表达模式
	更多表达数据
直系同源体
物种	人类
Entrez	64423
Ensembl	ENSG00000203485
UniProt	Q27J81
mRNA序列	NM_001031714
蛋白序列	NP_001026884
基因位置	Chr 14:; 105.16 – 105.19 Mb
PubMed查询	[1]
	查; 论; 编;

逆霍明2(INF2、Inverted formin-2)是在人体内由INF2基因编码的蛋白质。^[1]^[2]

临床意义

"逆霍明2"与局灶节段性肾小球硬化症有所相关联。^[3]

注释

^ Chhabra ES, Higgs HN. INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization. J Biol Chem. Sep 2006, 281 (36): 26754–67. PMID 16818491. doi:10.1074/jbc.M604666200.
^ Entrez Gene: C14orf173 chromosome 14 open reading frame 173.
^ Brown EJ, Schlöndorff JS, Becker DJ, Tsukaguchi H, Uscinski AL, Higgs HN, Henderson JM, Pollak MR. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nature Genetics. Jan 2010, 42 (1): 72–6. PMC 2980844  . PMID 20023659. doi:10.1038/ng.505.

延伸阅读

Kimura K, Wakamatsu A, Suzuki Y; et al. Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes. Genome Res. 2006, 16 (1): 55–65. PMC 1356129  . PMID 16344560. doi:10.1101/gr.4039406.
Bindschadler M, McGrath JL. Formin' new ideas about actin filament generation. Proc. Natl. Acad. Sci. U.S.A. 2004, 101 (41): 14685–6. PMC 522045  . PMID 15466701. doi:10.1073/pnas.0406317101.
Fu GK, Wang JT, Yang J; et al. Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes. Genomics. 2005, 84 (1): 205–10. PMID 15203218. doi:10.1016/j.ygeno.2004.01.011.
Gevaert K, Goethals M, Martens L; et al. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. Nat. Biotechnol. 2004, 21 (5): 566–9. PMID 12665801. doi:10.1038/nbt810.
Strausberg RL, Feingold EA, Grouse LH; et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc. Natl. Acad. Sci. U.S.A. 2003, 99 (26): 16899–903. PMC 139241  . PMID 12477932. doi:10.1073/pnas.242603899.
Venter JC, Adams MD, Myers EW; et al. The sequence of the human genome. Science. 2001, 291 (5507): 1304–51. PMID 11181995. doi:10.1126/science.1058040.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. Gene. 1997, 200 (1–2): 149–56. PMID 9373149. doi:10.1016/S0378-1119(97)00411-3.
Maruyama K, Sugano S. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. Gene. 1994, 138 (1–2): 171–4. PMID 8125298. doi:10.1016/0378-1119(94)90802-8.

[pmid16818491-1] Chhabra ES, Higgs HN. INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization. J Biol Chem. Sep 2006, 281 (36): 26754–67. PMID 16818491. doi:10.1074/jbc.M604666200.

[entrez-2] Entrez Gene: C14orf173 chromosome 14 open reading frame 173.

[3] Brown EJ, Schlöndorff JS, Becker DJ, Tsukaguchi H, Uscinski AL, Higgs HN, Henderson JM, Pollak MR. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nature Genetics. Jan 2010, 42 (1): 72–6. PMC 2980844  . PMID 20023659. doi:10.1038/ng.505.

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