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    ZC4H2 zinc finger C4H2-type containing [ Homo sapiens (human) ]

    Gene ID: 55906, updated on 5-Mar-2024

    Summary

    Official Symbol
    ZC4H2provided by HGNC
    Official Full Name
    zinc finger C4H2-type containingprovided by HGNC
    Primary source
    HGNC:HGNC:24931
    See related
    Ensembl:ENSG00000126970 MIM:300897; AllianceGenome:HGNC:24931
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MCS; WWS; WRWF; MRXS4; HCA127; WRWFFR; KIAA1166
    Summary
    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. This protein has been detected as an autoantigen in hepatocellular carcinoma patients. This gene has been identified as a potential candidate for X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in brain (RPKM 4.1), endometrium (RPKM 3.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ZC4H2 in Genome Data Viewer
    Location:
    Xq11.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (64915807..65034741, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (63341227..63460162, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (64135687..64254621, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905195 Neighboring gene uncharacterized LOC105373239 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:64195850-64196393 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29712 Neighboring gene zinc finger CCCH-type containing 12B Neighboring gene ReSE screen-validated silencer GRCh37_chrX:64394379-64394544 Neighboring gene karyopherin subunit alpha 2 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:64416296-64416796 Neighboring gene Sharpr-MPRA regulatory region 9838 Neighboring gene chaperonin containing TCP1 subunit 4 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Wieacker-Wolff syndrome
    MedGen: C0796200 OMIM: 314580 GeneReviews: Not available
    Compare labs
    Wieacker-Wolff syndrome, female-restricted
    MedGen: C5393303 OMIM: 301041 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-04-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-22)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1166

    Gene Ontology Provided by GOA

    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 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_021200.2 RefSeqGene

      Range
      63295..123938
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001178032.3NP_001171503.1  zinc finger C4H2 domain-containing protein isoform 2

      See identical proteins and their annotated locations for NP_001171503.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Both variants 2 and 4 encode the same isoform.
      Source sequence(s)
      AK001547, AK022807, BP376634
      Consensus CDS
      CCDS55431.1
      UniProtKB/TrEMBL
      A0A8V8TR70
      Related
      ENSP00000338650.2, ENST00000337990.2
      Conserved Domains (1) summary
      pfam10146
      Location:1198
      zf-C4H2; Zinc finger-containing protein
    2. NM_001178033.3NP_001171504.1  zinc finger C4H2 domain-containing protein isoform 3

      See identical proteins and their annotated locations for NP_001171504.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon in the 3' coding region that results in a frameshift, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK001547, AK293570
      Consensus CDS
      CCDS55432.1
      UniProtKB/Swiss-Prot
      Q9NQZ6
      Related
      ENSP00000399126.2, ENST00000447788.6
      Conserved Domains (1) summary
      pfam10146
      Location:13130
      zf-C4H2; Zinc finger-containing protein
    3. NM_001243804.2NP_001230733.1  zinc finger C4H2 domain-containing protein isoform 2

      See identical proteins and their annotated locations for NP_001230733.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1. Both variants 2 and 4 encode the same isoform.
      Source sequence(s)
      AK001547, BP376634, CX782941
      Consensus CDS
      CCDS55431.1
      UniProtKB/TrEMBL
      A0A8V8TR70
      Conserved Domains (1) summary
      pfam10146
      Location:1198
      zf-C4H2; Zinc finger-containing protein
    4. NM_018684.4NP_061154.1  zinc finger C4H2 domain-containing protein isoform 1

      See identical proteins and their annotated locations for NP_061154.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK001547, BC004411
      Consensus CDS
      CCDS14380.1
      UniProtKB/Swiss-Prot
      B2RDC2, B3KVZ5, B4DED0, E7EM74, G3V1L3, Q53H73, Q5JTF9, Q9H9C3, Q9H9H7, Q9NQZ6, Q9ULQ4
      Related
      ENSP00000363972.3, ENST00000374839.8
      Conserved Domains (1) summary
      pfam10146
      Location:13221
      zf-C4H2; Zinc finger-containing protein

    RNA

    1. NR_045044.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported start codon, as used by variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK001547, AK022807, BI770655, DA037517

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      64915807..65034741 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      63341227..63460162 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)