Human Gene ZC4H2 (uc022byc.1) Description and Page Index
  Description: Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 5, non-coding RNA.
RefSeq Summary (NM_001243804): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:64,135,682-64,196,413 Size: 60,732 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chrX:64,137,663-64,141,852 Size: 4,190 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chrX:64,135,682-64,196,413)mRNA (may differ from genome)Protein (201 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Zinc finger C4H2 domain-containing protein; AltName: Full=Hepatocellular carcinoma-associated antigen 127;
SIMILARITY: Contains 1 C4H2-type zinc finger.
SEQUENCE CAUTION: Sequence=BAA86480.1; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: ZC4H2
Diseases sorted by gene-association score: wieacker-wolff syndrome* (1669), intellectual disability-developmental delay-contractures syndrome* (400), miles-carpenter syndrome (18), charcot-marie-tooth neuropathy, x-linked dominant, 1 (8), adams-oliver syndrome (5), hepatocellular carcinoma (3), walker-warburg syndrome (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.36 RPKM in Pituitary
Total median expression: 109.77 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -156.30480-0.326 Picture PostScript Text
3' UTR -587.451981-0.297 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018482 - Znf-C4H2

Pfam Domains:
PF10146 - Zinc finger-containing protein

ModBase Predicted Comparative 3D Structure on Q9NQZ6
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0046872 metal ion binding

Biological Process:
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0007528 neuromuscular junction development
GO:0021522 spinal cord motor neuron differentiation
GO:0030154 cell differentiation
GO:0045666 positive regulation of neuron differentiation

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0030054 cell junction
GO:0045202 synapse
GO:0045211 postsynaptic membrane

-  Descriptions from all associated GenBank mRNAs
  AK022807 - Homo sapiens cDNA FLJ12745 fis, clone NT2RP2000758.
AK001547 - Homo sapiens cDNA FLJ10685 fis, clone NT2RP3000251.
AK123763 - Homo sapiens cDNA FLJ41769 fis, clone IMR322006886, highly similar to Hepatocellular carcinoma-associated antigen 127 homolog.
AF270491 - Homo sapiens hepatocellular carcinoma-associated antigen 127 (HCA127) mRNA, complete cds.
BC004411 - Homo sapiens zinc finger, C4H2 domain containing, mRNA (cDNA clone MGC:11005 IMAGE:3639978), complete cds.
AK022918 - Homo sapiens cDNA FLJ12856 fis, clone NT2RP2003511.
AB032992 - Homo sapiens mRNA for KIAA1166 protein, partial cds.
JD253908 - Sequence 234932 from Patent EP1572962.
JD337829 - Sequence 318853 from Patent EP1572962.
JD131756 - Sequence 112780 from Patent EP1572962.
JD119997 - Sequence 101021 from Patent EP1572962.
JD493057 - Sequence 474081 from Patent EP1572962.
JD358606 - Sequence 339630 from Patent EP1572962.
JD471756 - Sequence 452780 from Patent EP1572962.
JD237982 - Sequence 219006 from Patent EP1572962.
JD256296 - Sequence 237320 from Patent EP1572962.
JD226132 - Sequence 207156 from Patent EP1572962.
JD183647 - Sequence 164671 from Patent EP1572962.
JD470489 - Sequence 451513 from Patent EP1572962.
JD219777 - Sequence 200801 from Patent EP1572962.
AK293570 - Homo sapiens cDNA FLJ53717 complete cds, highly similar to Hepatocellular carcinoma-associated antigen 127 homolog.
JD286496 - Sequence 267520 from Patent EP1572962.
JD520060 - Sequence 501084 from Patent EP1572962.
JD490121 - Sequence 471145 from Patent EP1572962.
AK222708 - Homo sapiens mRNA for KIAA1166 variant, clone: COL03488.
JD450686 - Sequence 431710 from Patent EP1572962.
JD095190 - Sequence 76214 from Patent EP1572962.
JD357088 - Sequence 338112 from Patent EP1572962.
JD045356 - Sequence 26380 from Patent EP1572962.
JD448982 - Sequence 430006 from Patent EP1572962.
AK315485 - Homo sapiens cDNA, FLJ96548, Homo sapiens hepatocellular carcinoma-associated antigen 127(HCA127), mRNA.
JF432862 - Synthetic construct Homo sapiens clone IMAGE:100074184 zinc finger, C4H2 domain containing (ZC4H2) gene, encodes complete protein.
KJ894286 - Synthetic construct Homo sapiens clone ccsbBroadEn_03680 ZC4H2 gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RDC2, B4DED0, E7EM74, HCA127, KIAA1166, NM_001243804, NP_001230733, NR_045044, Q5JTF9, Q9H9C3, Q9H9H7, Q9NQZ6, Q9ULQ4, ZC4H2_HUMAN
UCSC ID: uc022byc.1
RefSeq Accession: NM_001243804
Protein: Q9NQZ6 (aka ZC4H2_HUMAN)
CCDS: CCDS55431.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NR_045044.1
exon count: 5CDS single in 3' UTR: no RNA size: 3067
ORF size: 606CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1178.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.