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

Gene ID: 55906, updated on 1-Aug-2020

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; MIM:309605
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

Genomic context

See ZC4H2 in Genome Data Viewer
Location:
Xq11.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (64915802..65034741, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (64135682..64254624, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene BLOC1S2 pseudogene 1 Neighboring gene uncharacterized LOC105373239 Neighboring gene zinc finger CCCH-type containing 12B Neighboring gene karyopherin subunit alpha 2 pseudogene Neighboring gene Sharpr-MPRA regulatory region 9838

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

Phenotypes

Associated conditions

Description Tests
Intellectual disability-developmental delay-contractures syndrome
MedGen: C0796200 OMIM: 314580 GeneReviews: Not available
Compare labs
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
MedGen: CN272919 OMIM: 301041 GeneReviews: Not available
not available

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

NHGRI 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.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1166

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
nervous system development IDA
Inferred from Direct Assay
more info
PubMed 
neuromuscular junction development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
spinal cord motor neuron differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
postsynaptic membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    Q9NQZ6
    Related
    ENSP00000338650.2, ENST00000337990.2
    Conserved Domains (1) summary
    pfam10146
    Location:1198
    zf-C4H2; Zinc finger-containing protein
  2. NM_001178033.2NP_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, AL355606
    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/Swiss-Prot
    Q9NQZ6
    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
    Q9NQZ6
    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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    64915802..65034741 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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