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    Zc4h2 zinc finger, C4H2 domain containing [ Mus musculus (house mouse) ]

    Gene ID: 245522, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Zc4h2provided by MGI
    Official Full Name
    zinc finger, C4H2 domain containingprovided by MGI
    Primary source
    MGI:MGI:2679294
    See related
    Ensembl:ENSMUSG00000035062 AllianceGenome:MGI:2679294
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gm372; mKIAA1166
    Summary
    Predicted to enable metal ion binding activity. Acts upstream of or within noradrenergic neuron development; positive regulation of DNA-binding transcription factor activity; and protein monoubiquitination. Located in neuronal cell body. Is expressed in metencephalon basal plate; nervous system; and neural retina. Human ortholog(s) of this gene implicated in Miles-Carpenter syndrome. Orthologous to human ZC4H2 (zinc finger C4H2-type containing). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in whole brain E14.5 (RPKM 17.7), CNS E14 (RPKM 16.9) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Zc4h2 in Genome Data Viewer
    Location:
    X C3; X 41.99 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (94682793..94702115, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (95639187..95658509, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene ring finger and WD repeat domain 2 pseudogene Neighboring gene ankyrin repeat and SOCS box-containing 12 Neighboring gene STARR-seq mESC enhancer starr_47573 Neighboring gene STARR-seq mESC enhancer starr_47574 Neighboring gene adenylosuccinate lyase pseudogene Neighboring gene predicted gene, 29889

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Loss of ZC4H2, an Arthrogryposis Multiplex Congenita Associated Gene, Promotes Osteoclastogenesis in Mice. Zhu L, et al. Genes (Basel), 2024 Aug 28. PMID 39336725, Free PMC Article
    2. Loss of ZC4H2 and RNF220 Inhibits Neural Stem Cell Proliferation and Promotes Neuronal Differentiation. Zhang L, et al. Cells, 2020 Jul 1. PMID 32630355, Free PMC Article
    3. ZC4H2 stabilizes Smads to enhance BMP signalling, which is involved in neural development in Xenopus. Ma P, et al. Open Biol, 2017 Aug. PMID 28814648, Free PMC Article
    4. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Hirata H, et al. Am J Hum Genet, 2013 May 2. PMID 23623388, Free PMC Article
    5. Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for noradrenergic neuron development. Song NN, et al. Development, 2020 Mar 30. PMID 32094113

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of ZC4H2, an Arthrogryposis Multiplex Congenita Associated Gene, Promotes Osteoclastogenesis in Mice.
      Title: Loss of ZC4H2, an Arthrogryposis Multiplex Congenita Associated Gene, Promotes Osteoclastogenesis in Mice.
    2. ZC4H2 stabilizes RNF220 to pattern ventral spinal cord through modulating Shh/Gli signaling.
      Title: ZC4H2 stabilizes RNF220 to pattern ventral spinal cord through modulating Shh/Gli signaling.
    3. Loss of ZC4H2 and RNF220 Inhibits Neural Stem Cell Proliferation and Promotes Neuronal Differentiation.
      Title: Loss of ZC4H2 and RNF220 Inhibits Neural Stem Cell Proliferation and Promotes Neuronal Differentiation.
    4. Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for noradrenergic neuron development.
      Title: Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for noradrenergic neuron development.
    5. RNF220 interacts with, and is co-expressed with, a zinc-finger protein ZC4H2, and they cooperate to degrade Dbx1/2 and Nkx2.2. Co-expression of RNF220 and ZC4H2 further promotes the ability of Nkx6.1 to induce ectopic Chx10+ V2 interneurons.
      Title: Rnf220 cooperates with Zc4h2 to specify spinal progenitor domains.
    6. Results demonstrate that ZC4H2 promotes BMP signaling and is involved in BMP regulated myogenic and osteogenic differentiation of mouse myoblast cells.
      Title: ZC4H2 stabilizes Smads to enhance BMP signalling, which is involved in neural development in Xenopus.
    7. In mouse primary hippocampal neurons, transiently produced ZC4H2 localized to the postsynaptic compartment of excitatory synapses, and the altered protein influenced dendritic spine density.
      Title: ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1166, MGC105164

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in nervous system development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in nervous system development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuromuscular junction development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within noradrenergic neuron development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of DNA-binding transcription factor activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in positive regulation of neuron differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of neuron differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within protein monoubiquitination IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within protein monoubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of transcription regulatory region DNA binding IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of transcription regulatory region DNA binding ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    involved_in spinal cord motor neuron differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in postsynaptic membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in postsynaptic membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of protein-containing complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger C4H2 domain-containing protein
    Names
    hepatocellular carcinoma-associated antigen 127 homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001003916.2 → NP_001003916.1  zinc finger C4H2 domain-containing protein isoform 1

      See identical proteins and their annotated locations for NP_001003916.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AI844550, BC079862, BY200912
      Consensus CDS
      CCDS30284.1
      UniProtKB/Swiss-Prot
      B1AUU6, Q3TSJ9, Q3U274, Q504M3, Q68FG0, Q6ZPW6
      Related
      ENSMUSP00000041236.7, ENSMUST00000044382.7
      Conserved Domains (1) summary
      pfam10146
      Location:13 → 221
      zf-C4H2; Zinc finger-containing protein

    2. NM_001289696.1 → NP_001276625.1  zinc finger C4H2 domain-containing protein isoform 2

      See identical proteins and their annotated locations for NP_001276625.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. This results in a shorter isoform (2) that has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AI844550, AL671982, BC079862, BY200912
      Consensus CDS
      CCDS81154.1
      UniProtKB/TrEMBL
      Q05BE0
      Related
      ENSMUSP00000112449.2, ENSMUST00000120620.8
      Conserved Domains (1) summary
      pfam10146
      Location:13 → 130
      zf-C4H2; Zinc finger-containing protein

    3. NM_001289697.1 → NP_001276626.1  zinc finger C4H2 domain-containing protein isoform 3

      See identical proteins and their annotated locations for NP_001276626.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter isoform (3), compared to isoform 3.
      Source sequence(s)
      AI844550, BC079862, BY200912
      Consensus CDS
      CCDS81153.1
      UniProtKB/Swiss-Prot
      Q68FG0
      Related
      ENSMUSP00000113689.2, ENSMUST00000119640.8
      Conserved Domains (1) summary
      pfam10146
      Location:13 → 214
      zf-C4H2; Zinc finger-containing protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      94682793..94702115 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011247587.4 → XP_011245889.1  zinc finger C4H2 domain-containing protein isoform X1

      See identical proteins and their annotated locations for XP_011245889.1

      Conserved Domains (1) summary
      pfam10146
      Location:17 → 224
      zf-C4H2; Zinc finger-containing protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68FG0.1 GenPept UniProtKB/Swiss-Prot:Q68FG0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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