PROSITE documentation PDOC51896Zinc finger C4H2-type profile
ZC4H2, which belongs to a conserved gene family found in all metazoans, is located on the X chromosome and has been found to be expressed in various human tissues, particularly fetal brain. ZC4H2 plays an important role during embryonic development of the central and peripheral nervous systems. Alterations of ZC4H2 orthologues in mouse brain and zebrafish affect central nervous system (CNS) embryogenesis, particularly the development and specification of dendritic spines. In humans, defects in ZC4H2 have been found in males affected by severe intellectual disability in variable association with spasticity, hypereflexia and/or pyramidal signs, seizures or CNS abnormalities, muscle weakness, and joint contractures (arthrogryposis multiplex congenital; AMC). The ZC4H2 gene encodes a zinc-finger protein with a C-terminal domain, which includes a putative C4H2 zinc-finger characterized by four cysteine residues and two histidine residues, and a coiled-coil domain [1,2,3,4].
Some proteins known to contain a C4H2-type zinc finger are listed below:
- Vertebrate ZC4H2.
- Caenorhabditis elegans VAB-23.
The profile we developed covers the entire C4H2-type zinc finger.
Last update:June 2019 / First entry.
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PROSITE method (with tools and information) covered by this documentation:
| 1 | Authors | Pellegrino M.W. Gasser R.B. Sprenger F. Stetak A. Hajnal A. |
| Title | The conserved zinc finger protein VAB-23 is an essential regulator of epidermal morphogenesis in Caenorhabditis elegans. | |
| Source | Dev. Biol. 336:84-93(2009). | |
| PubMed ID | 19799893 | |
| DOI | 10.1016/j.ydbio.2009.09.036 |
| 2 | Authors | Hirata H. Nanda I. van Riesen A. McMichael G. Hu H. Hambrock M. Papon M.-A. Fischer U. Marouillat S. Ding C. Alirol S. Bienek M. Preisler-Adams S. Grimme A. Seelow D. Webster R. Haan E. MacLennan A. Stenzel W. Yap T.Y. Gardner A. Nguyen L.S. Shaw M. Lebrun N. Haas S.A. Kress W. Haaf T. Schellenberger E. Chelly J. Viot G. Shaffer L.G. Rosenfeld J.A. Kramer N. Falk R. El-Khechen D. Escobar L.F. Hennekam R. Wieacker P. Huebner C. Ropers H.-H. Gecz J. Schuelke M. Laumonnier F. Kalscheuer V.M. |
| Title | ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. | |
| Source | Am. J. Hum. Genet. 92:681-695(2013). | |
| PubMed ID | 23623388 | |
| DOI | 10.1016/j.ajhg.2013.03.021 |
| 3 | Authors | Zanzottera C. Milani D. Alfei E. Rizzo A. D'Arrigo S. Esposito S. Pantaleoni C. |
| Title | ZC4H2 deletions can cause severe phenotype in female carriers. | |
| Source | Am. J. Med. Genet. A. 173:1358-1363(2017). | |
| PubMed ID | 28345801 | |
| DOI | 10.1002/ajmg.a.38155 |
| 4 | Authors | Ma P. Ren B. Yang X. Sun B. Liu X. Kong Q. Li C. Mao B. |
| Title | ZC4H2 stabilizes Smads to enhance BMP signalling, which is involved in neural development in Xenopus. | |
| Source | Open. Biol. 7:0-0(2017). | |
| PubMed ID | 28814648 | |
| DOI | 10.1098/rsob.170122 |
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