Version 5.4
Homo sapiens Protein: ZC4H2
Summary
InnateDB Protein IDBP-374263.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ZC4H2
Protein Name zinc finger, C4H2 domain containing
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000399126
InnateDB Gene IDBG-73225 (ZC4H2)
Protein Structure
UniProt Annotation
Function May play a role in neuronal development and in neuromuscular junction formation. {ECO:0000269PubMed:23623388}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:23623388}. Nucleus {ECO:0000269PubMed:23623388}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000269PubMed:23623388}. Note=Upon transfection into mouse primary hippocampal neurons, localizes at excitatory, but not inhibitory, postsynaptic sites.
Disease Associations Wieacker-Wolf syndrome (WRWF) [MIM:314580]: A severe X- linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder. {ECO:0000269PubMed:23623388}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in fetal tissues, including in brain, intestine, lung, kidney and muscle. {ECO:0000269PubMed:23623388}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated
Total 5 [view]
Protein-Protein 5 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0046872 metal ion binding
Biological Process
GO:0007399 nervous system development
GO:0007528 neuromuscular junction development
GO:0021522 spinal cord motor neuron differentiation
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0030054 cell junction
GO:0045211 postsynaptic membrane
Protein Structure and Domains
PDB ID
InterPro IPR018482 Zinc finger, C4H2-type
PFAM PF10146
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9NQZ6
PhosphoSite PhosphoSite-Q9NQZ6
TrEMBL
UniProt Splice Variant
Entrez Gene 55906
UniGene Hs.739472
RefSeq NP_001171504
HUGO HGNC:24931
OMIM 300897
CCDS CCDS55432
HPRD 06584
IMGT
EMBL AB032992 AF270491 AK022807 AK022918 AK123763 AK222708 AK293570 AK315485 AL355606 BC004411 CH471132
GenPept AAF75787 AAH04411 BAA86480 BAB14252 BAB14308 BAD96428 BAG37869 BAG53957 BAG57041 EAX05408 EAX05409

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca