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Aliases for ZC4H2 Gene

Aliases for ZC4H2 Gene

  • Zinc Finger C4H2-Type Containing 2 3 5
  • KIAA1166 2 3 4
  • Hepatocellular Carcinoma-Associated Antigen 127 3 4
  • Zinc Finger, C4H2 Domain Containing 2 3
  • HCA127 3 4
  • Zinc Finger C4H2 Domain-Containing Protein 3
  • Wieacker-Wolff Syndrome 2
  • WRWF 3
  • WWS 3

External Ids for ZC4H2 Gene

Previous HGNC Symbols for ZC4H2 Gene

  • KIAA1166
  • WWS

Previous GeneCards Identifiers for ZC4H2 Gene

  • GC0XM064053
  • GC0XM057961
  • GC0XM064136

Summaries for ZC4H2 Gene

Entrez Gene Summary for ZC4H2 Gene

  • 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 mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

GeneCards Summary for ZC4H2 Gene

ZC4H2 (Zinc Finger C4H2-Type Containing) is a Protein Coding gene. Diseases associated with ZC4H2 include Wieacker-Wolff Syndrome and Miles-Carpenter Syndrome.

UniProtKB/Swiss-Prot for ZC4H2 Gene

  • May play a role in neuronal development and in neuromuscular junction formation.

Gene Wiki entry for ZC4H2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZC4H2 Gene

Genomics for ZC4H2 Gene

Regulatory Elements for ZC4H2 Gene

Enhancers for ZC4H2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG065034 1.2 FANTOM5 ENCODE 2.9 -0.4 -394 2.1 PKNOX1 BMI1 ZNF2 ZNF48 RAD21 GLIS2 EGR1 CREM ZNF263 SP5 AMER1 ZC4H2 ZC3H12B LOC100533843
GH0XG064975 0.8 ENCODE 3.8 +58.5 58453 1.6 SOX13 MXI1 SAP130 SUZ12 ARID4B ZNF76 ETS1 ZBTB48 POLR2A SCRT2 ZC4H2 GC0XM064895
GH0XG065030 0.3 FANTOM5 4.7 +3.9 3887 0.3 ZC4H2 GC0XM064895
GH0XG065244 0.3 FANTOM5 1.3 -210.1 -210149 0.3 ZC3H12B ZC4H2 CCT4P2 LOC100533843
GH0XG064928 0.5 FANTOM5 0.1 +106.2 106249 0.1 SCRT1 SCRT2 GC0XM064895 ZC4H2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZC4H2 on UCSC Golden Path with GeneCards custom track

Promoters for ZC4H2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000246850 -457 1999 PKNOX1 BMI1 ZNF2 ZNF48 RAD21 GLIS2 EGR1 CREM ZNF263 SP5

Genomic Location for ZC4H2 Gene

Chromosome:
X
Start:
64,915,802 bp from pter
End:
65,034,744 bp from pter
Size:
118,943 bases
Orientation:
Minus strand

Genomic View for ZC4H2 Gene

Genes around ZC4H2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZC4H2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZC4H2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZC4H2 Gene

Proteins for ZC4H2 Gene

  • Protein details for ZC4H2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQZ6-ZC4H2_HUMAN
    Recommended name:
    Zinc finger C4H2 domain-containing protein
    Protein Accession:
    Q9NQZ6
    Secondary Accessions:
    • B2RDC2
    • B3KVZ5
    • B4DED0
    • E7EM74
    • G3V1L3
    • Q53H73
    • Q5JTF9
    • Q9H9C3
    • Q9H9H7
    • Q9ULQ4

    Protein attributes for ZC4H2 Gene

    Size:
    224 amino acids
    Molecular mass:
    26244 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA86480.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ZC4H2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZC4H2 Gene

Post-translational modifications for ZC4H2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZC4H2 Gene

No data available for DME Specific Peptides for ZC4H2 Gene

Domains & Families for ZC4H2 Gene

Gene Families for ZC4H2 Gene

Protein Domains for ZC4H2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ZC4H2: view

No data available for UniProtKB/Swiss-Prot for ZC4H2 Gene

Function for ZC4H2 Gene

Molecular function for ZC4H2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in neuronal development and in neuromuscular junction formation.

Gene Ontology (GO) - Molecular Function for ZC4H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZC4H2: view
genes like me logo Genes that share phenotypes with ZC4H2: view

Human Phenotype Ontology for ZC4H2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ZC4H2 Gene

Localization for ZC4H2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZC4H2 Gene

Cytoplasm. Nucleus. Cell junction, synapse, postsynaptic cell membrane. Note=Upon transfection into mouse primary hippocampal neurons, localizes at excitatory, but not inhibitory, postsynaptic sites.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZC4H2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytoskeleton 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ZC4H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 23623388
GO:0005737 cytoplasm IDA,IEA 23623388
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with ZC4H2: view

Pathways & Interactions for ZC4H2 Gene

SuperPathways for ZC4H2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ZC4H2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IDA 23623388
GO:0007528 neuromuscular junction development ISS --
GO:0021522 spinal cord motor neuron differentiation ISS --
genes like me logo Genes that share ontologies with ZC4H2: view

No data available for Pathways by source and SIGNOR curated interactions for ZC4H2 Gene

Drugs & Compounds for ZC4H2 Gene

No Compound Related Data Available

Transcripts for ZC4H2 Gene

Unigene Clusters for ZC4H2 Gene

Zinc finger, C4H2 domain containing:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZC4H2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - - - - -
SP2: - -
SP3: - -
SP4: -
SP5:

Relevant External Links for ZC4H2 Gene

GeneLoc Exon Structure for
ZC4H2
ECgene alternative splicing isoforms for
ZC4H2

Expression for ZC4H2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ZC4H2 Gene

Protein differential expression in normal tissues from HIPED for ZC4H2 Gene

This gene is overexpressed in Plasma (55.9) and Rectum (12.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZC4H2 Gene



Protein tissue co-expression partners for ZC4H2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZC4H2 Gene:

ZC4H2

SOURCE GeneReport for Unigene cluster for ZC4H2 Gene:

Hs.28249

mRNA Expression by UniProt/SwissProt for ZC4H2 Gene:

Q9NQZ6-ZC4H2_HUMAN
Tissue specificity: Expressed in fetal tissues, including in brain, intestine, lung, kidney and muscle.

Evidence on tissue expression from TISSUES for ZC4H2 Gene

  • Nervous system(4.8)
  • Intestine(4.2)
  • Pancreas(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZC4H2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • salivary gland
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • lung
  • rib
  • rib cage
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ZC4H2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ZC4H2 Gene

Orthologs for ZC4H2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZC4H2 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia ZC4H2 35
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ZC4H2 34 35
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia ZC4H2 34 35
  • 94.05 (n)
dog
(Canis familiaris)
Mammalia ZC4H2 34 35
  • 93.15 (n)
mouse
(Mus musculus)
Mammalia Zc4h2 34 16 35
  • 90.33 (n)
rat
(Rattus norvegicus)
Mammalia Zc4h2 34
  • 90.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ZC4H2 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZC4H2 34 35
  • 82.14 (n)
lizard
(Anolis carolinensis)
Reptilia ZC4H2 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zc4h2 34
  • 81.99 (n)
Str.686 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.22980 34
zebrafish
(Danio rerio)
Actinopterygii zc4h2 34 35
  • 77.83 (n)
wufb99f08 34
fruit fly
(Drosophila melanogaster)
Insecta CG13001 34 35
  • 63.17 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010728 34
  • 56.49 (n)
worm
(Caenorhabditis elegans)
Secernentea vab-23 35
  • 28 (a)
OneToMany
ZK930.2 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2141 34
Species where no ortholog for ZC4H2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ZC4H2 Gene

ENSEMBL:
Gene Tree for ZC4H2 (if available)
TreeFam:
Gene Tree for ZC4H2 (if available)

Paralogs for ZC4H2 Gene

No data available for Paralogs for ZC4H2 Gene

Variants for ZC4H2 Gene

Sequence variations from dbSNP and Humsavar for ZC4H2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs398122938 Pathogenic, Wieacker-Wolf syndrome (WRWF) [MIM:314580] 64,921,855(-) CCCAT(C/G)TGGAG nc-transcript-variant, reference, missense
rs398122939 Pathogenic, Wieacker-Wolf syndrome (WRWF) [MIM:314580] 64,917,857(-) ATGCA(C/T)CTATA nc-transcript-variant, reference, synonymous-codon, missense
VAR_069622 Wieacker-Wolf syndrome (WRWF) [MIM:314580]
VAR_069624 Wieacker-Wolf syndrome (WRWF) [MIM:314580]
rs797044863 Pathogenic 64,921,894(-) ACAAG(C/T)AGGAG nc-transcript-variant, reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for ZC4H2 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354
esv2663820 CNV deletion 23128226
esv2675440 CNV deletion 23128226
esv2758870 CNV gain 17122850
esv3558921 CNV deletion 23714750

Variation tolerance for ZC4H2 Gene

Residual Variation Intolerance Score: 44.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZC4H2 Gene

Human Gene Mutation Database (HGMD)
ZC4H2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZC4H2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZC4H2 Gene

Disorders for ZC4H2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ZC4H2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
wieacker-wolff syndrome
  • intellectual disability-developmental delay-contractures syndrome
miles-carpenter syndrome
  • miles-carpenter x-linked mental retardation syndrome
intellectual disability-developmental delay-contractures syndrome
  • apraxia, oculomotor, with congenital contractures and muscle atrophy
muscular dystrophy-dystroglycanopathy , type a, 1
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a1
adams-oliver syndrome
  • adams oliver syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ZC4H2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ZC4H2_HUMAN
  • Wieacker-Wolf syndrome (WRWF) [MIM:314580]: A severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder. {ECO:0000269 PubMed:23623388}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZC4H2

Genetic Association Database (GAD)
ZC4H2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZC4H2
genes like me logo Genes that share disorders with ZC4H2: view

No data available for Genatlas for ZC4H2 Gene

Publications for ZC4H2 Gene

  1. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. (PMID: 23623388) Hirata H. … Kalscheuer V.M. (Am. J. Hum. Genet. 2013) 2 3 4 64
  2. Large scale identification of human hepatocellular carcinoma- associated antigens by autoantibodies. (PMID: 12097419) Wang Y. … Chen W.-F. (J. Immunol. 2002) 2 3 4 64
  3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M. … Ohara O. (DNA Res. 1999) 2 3 4 64
  4. 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. (PMID: 20932654) Kerns S.L. … Rosenstein B.S. (Int. J. Radiat. Oncol. Biol. Phys. 2010) 3 46 64
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4 64

Products for ZC4H2 Gene

Sources for ZC4H2 Gene

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