• Gene id: 55906

Gene Summary

• Gene Symbol: ZC4H2   Gene   UCSC   Ensembl
• Aliases: HCA127, KIAA1166, MCS, MRXS4, WRWF, WRWFFR, WWS
• Gene name: zinc finger C4H2-type containing
• Alternate names: zinc finger C4H2 domain-containing protein, Miles-Carpenter X-linked mental retardation syndrome, Miles-Carpenter syndrome (mental retardation, X-linked, syndromic-4, with congenital contractures and low fingertip arches), hepatocellular carcinoma-associated,
• Gene location: Xq11.2 (65034740: 64915801)     Exons: 6     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the zinc finger domain-containing protein family. This family member has a C-terminal zinc finger domain that is characterized by four cysteine residues and two histidine residues, and it also includes a coiled-coil region. T
• OMIM: 300897309605

Protein Summary

• Protein general information: Q9NQZ6  
  • Name: Zinc finger C4H2 domain containing protein (Hepatocellular carcinoma associated antigen 127)
  • Length: 224  
  • Mass: 26244
  • Tissue specificity: Expressed in fetal tissues, including in brain, intestine, lung, kidney and muscle (PubMed
• Sequence:

  MADEQEIMCKLESIKEIRNKTLQMEKIKARLKAEFEALESEERHLKEYKQEMDLLLQEKMAHVEELRLIHADINV
  MENTIKQSENDLNKLLESTRRLHDEYKPLKEHVDALRMTLGLQRLPDLCEEEEKLSLDYFEKQKAEWQTEPQEPP
  IPESLAAAAAAAQQLQVARKQDTRQTATFRQQPPPMKACLSCHQQIHRNAPICPLCKAKSRSRNPKKPKRKQDE

• Structural information:
  • Interpro: IPR018482  
  • Prosite: PS51896
  • STRING: ENSP00000363972
• Other Databases: GeneCards:  ZC4H2  Malacards:  ZC4H2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0045211	postsynaptic membrane	IDA	cellular component
GO:0007399	nervous system development	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045666	positive regulation of neuron differentiation	IMP	biological process
GO:0021522	spinal cord motor neuron differentiation	ISS	biological process
GO:0007528	neuromuscular junction development	ISS	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Wieacker-Wolff syndrome	KEGG:H02268
Wieacker-Wolff syndrome	KEGG:H02268
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray