ZFPM2
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| Location (UCSC) | Chr 8: 104.59 – 105.8 Mb | Chr 15: 40.52 – 40.97 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
Zinc finger protein ZFPM2, i.e. zinc finger protein, FOG family member 2, but also termed Friend of GATA2, Friend of GATA-2, FOG2, or FOG-2, is a protein that in humans is encoded by the ZFPM2 and in mice by the Zfpm2 gene.[5][6][7]
The
The ZFPM2 protein interacts primarily with the
Gene
The ZFPM2 gene is found in a wide range of animal species from
Protein
Both the human and mouse ZFPM2 proteins consists of 1151 amino acids and are expressed in various tissues. The human protein is expressed at relatively high levels in the adult ovary and uterine endometrium while the mouse protein is expressed at relatively high levels in the central nervous system cerebellum and, during the early stages of its development, the heart. Human ZFPM2 contains 8 zinc finger structural motifs and interacts directly with various members of the GATA transcription factor family to modify their ability to stimulate the expression of their target genes. For example, it has been shown to bind directly with the N-terminal zinc finger of the GATA4 transcription factor to inhibit its ability to stimulate the expression of a target gene in an in vitro model system.[13][14][11][10]
The extreme
Pathophysiology
ZFPM2 regulates the expression of certain GATA target genes by up-regulating or down-regulating the ability of the GATA transcription factors, primarily GATA3, GATA4, GATA5, and GATA6, to stimulate the expression of their target genes. Interactions with the NuRD complex or a CTBP can cause ZFPM2 to inhibit the ability of GATA3-6 proteins to stimulate the expression of their target genes.[13]
Clinical relevancy
Congenital heart disease
Mutations in the ZFPM2 gene are responsible for rare and sporadic cases of
Congenital diaphragmatic hernia
ZFPM2
Sex development
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000169946 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022306 – 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.
- PMID 9927675.
- PMID 10438528.
- ^ a b "Entrez Gene: ZFPM2 zinc finger protein, multitype 2".
- ^ PMID 24769157.
- ^ PMID 27899089.
- ^ a b "ZFPM2 zinc finger protein, FOG family member 2 [Homo sapiens (Human)] – Gene – NCBI".
- ^ a b "Zfpm2 zinc finger protein, multitype 2 [Mus musculus (House mouse)] – Gene – NCBI".
- ^ PMID 15659346.
- ^ PMID 23048181.
- ^ S2CID 23888323.
- PMID 26959486.
- PMID 28768736.
Further reading
- Fox AH, Liew C, Holmes M, et al. (1999). "Transcriptional cofactors of the FOG family interact with GATA proteins by means of multiple zinc fingers". EMBO J. 18 (10): 2812–22. PMID 10329627.
- Crispino JD, Lodish MB, Thurberg BL, et al. (2001). "Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors". Genes Dev. 15 (7): 839–44. PMID 11297508.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMID 12477932.
- Anttonen M, Ketola I, Parviainen H, et al. (2004). "FOG-2 and GATA-4 Are coexpressed in the mouse ovary and can modulate mullerian-inhibiting substance expression". Biol. Reprod. 68 (4): 1333–40. PMID 12606418.
- Pizzuti A, Sarkozy A, Newton AL, et al. (2004). "Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot". Hum. Mutat. 22 (5): 372–7. S2CID 21531781.
- Hirai M, Ono K, Morimoto T, et al. (2004). "FOG-2 competes with GATA-4 for transcriptional coactivator p300 and represses hypertrophic responses in cardiac myocytes". J. Biol. Chem. 279 (36): 37640–50. PMID 15220332.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. PMID 15489334.
- Chan EM, Comer EM, Brown FC, et al. (2005). "AML1-FOG2 fusion protein in myelodysplasia". Blood. 105 (11): 4523–6. PMID 15705784.
- Ackerman KG, Herron BJ, Vargas SO, et al. (2005). "Fog2 is required for normal diaphragm and lung development in mice and humans". PLOS Genet. 1 (1): 58–65. PMID 16103912.
- Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. S2CID 13709685.
- Finelli P, Pincelli AI, Russo S, et al. (2007). "Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis". Clin. Genet. 71 (3): 195–204. S2CID 20572160.
- Bleyl SB, Moshrefi A, Shaw GM, et al. (2007). "Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients". Eur. J. Hum. Genet. 15 (9): 950–8. PMID 17568391.
