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Aliases for ZBTB42 Gene

Aliases for ZBTB42 Gene

  • Zinc Finger And BTB Domain Containing 42 2 3
  • ZNF925 3 6
  • Zinc Finger And BTB Domain-Containing Protein 42 3
  • LCCS6 3

External Ids for ZBTB42 Gene

Previous GeneCards Identifiers for ZBTB42 Gene

  • GC00U921814
  • GC14U900765
  • GC14P104339
  • GC14P105266
  • GC14P085448

Summaries for ZBTB42 Gene

Entrez Gene Summary for ZBTB42 Gene

  • The protein encoded by this gene is a member of the C2H2 zinc finger protein family. This protein is predicted to have a pox virus and zinc finger (POZ) domain at the N-terminus and four zinc finger domains at the C-terminus. In human and mouse, the protein localizes to the nuclei of skeletal muscle cells. Knockdown of this gene in zebrafish results in abnormal skeletal muscle development and myofibrillar disorganization. A novel homozygous variant of the human gene has been associated with lethal congenital contracture syndrome, an autosomal recessive disorder that results in muscle wasting. [provided by RefSeq, Mar 2015]

GeneCards Summary for ZBTB42 Gene

ZBTB42 (Zinc Finger And BTB Domain Containing 42) is a Protein Coding gene. An important paralog of this gene is ENSG00000254553.

UniProtKB/Swiss-Prot for ZBTB42 Gene

  • Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZBTB42 Gene

Genomics for ZBTB42 Gene

Regulatory Elements for ZBTB42 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ZBTB42 Gene

Start:
104,800,596 bp from pter
End:
104,804,712 bp from pter
Size:
4,117 bases
Orientation:
Plus strand

Genomic View for ZBTB42 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ZBTB42 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZBTB42 Gene

Proteins for ZBTB42 Gene

  • Protein details for ZBTB42 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B2RXF5-ZBT42_HUMAN
    Recommended name:
    Zinc finger and BTB domain-containing protein 42
    Protein Accession:
    B2RXF5
    Secondary Accessions:
    • B7ZW21

    Protein attributes for ZBTB42 Gene

    Size:
    422 amino acids
    Molecular mass:
    46491 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ZBTB42 Gene

Proteomics data for ZBTB42 Gene at MOPED

Post-translational modifications for ZBTB42 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ZBTB42 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ZBTB42 Gene

Domains for ZBTB42 Gene

Gene Families for ZBTB42 Gene

HGNC:
  • BTBD :BTB/POZ domain containing
  • ZNF :Zinc fingers, C2H2-type

Protein Domains for ZBTB42 Gene

Suggested Antigen Peptide Sequences for ZBTB42 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

B2RXF5

UniProtKB/Swiss-Prot:

ZBT42_HUMAN :
  • B2RXF5
Domain:
  • Contains 1 BTB (POZ) domain.
Family:
  • Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
Similarity:
  • Contains 4 C2H2-type zinc fingers.
genes like me logo Genes that share domains with ZBTB42: view

Function for ZBTB42 Gene

Molecular function for ZBTB42 Gene

UniProtKB/Swiss-Prot Function: Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes.

Gene Ontology (GO) - Molecular Function for ZBTB42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZBTB42: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for ZBTB42 Gene

Localization for ZBTB42 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZBTB42 Gene

Cytoplasm. Nucleus. Nucleus, nucleoplasm. Note=In skeletal myofibers, highly enriched in subsynaptic nuclei at the neuromuscular junctions. {ECO:0000250 UniProtKB:Q811H0}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ZBTB42 Gene COMPARTMENTS Subcellular localization image for ZBTB42 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ZBTB42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21193930
GO:0005654 nucleoplasm ISS --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with ZBTB42: view

Pathways for ZBTB42 Gene

SuperPathways for ZBTB42 Gene

No Data Available

Interacting Proteins for ZBTB42 Gene

Gene Ontology (GO) - Biological Process for ZBTB42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0007517 muscle organ development IMP 25055871
genes like me logo Genes that share ontologies with ZBTB42: view

No data available for Pathways by source for ZBTB42 Gene

Transcripts for ZBTB42 Gene

mRNA/cDNA for ZBTB42 Gene

(3) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ZBTB42 Gene

Zinc finger and BTB domain containing 42:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ZBTB42

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ZBTB42

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZBTB42 Gene

No ASD Table

Relevant External Links for ZBTB42 Gene

GeneLoc Exon Structure for
ZBTB42
ECgene alternative splicing isoforms for
ZBTB42

Expression for ZBTB42 Gene

mRNA expression in normal human tissues for ZBTB42 Gene

mRNA differential expression in normal tissues according to GTEx for ZBTB42 Gene

This gene is overexpressed in Pancreas (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ZBTB42 Gene

SOURCE GeneReport for Unigene cluster for ZBTB42 Gene Hs.170853

mRNA Expression by UniProt/SwissProt for ZBTB42 Gene

B2RXF5-ZBT42_HUMAN
Tissue specificity: Expressed in skeletal muscle (at protein level).
genes like me logo Genes that share expressions with ZBTB42: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ZBTB42 Gene

Orthologs for ZBTB42 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ZBTB42 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZBTB42 35
  • 99.53 (n)
  • 99.29 (a)
ZBTB42 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZBTB42 35
  • 81.76 (n)
  • 78.25 (a)
ZBTB42 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ZBTB42 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Zbtb42 35
  • 78.52 (n)
  • 75.89 (a)
Zbtb42 16
Zbtb42 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ZBTB42 36
  • 48 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zbtb42 35
  • 78.04 (n)
  • 75.42 (a)
chicken
(Gallus gallus)
Aves ZBTB42 36
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZBTB42 36
  • 50 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ZBTB42 36
  • 40 (a)
OneToOne
Species with no ortholog for ZBTB42:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ZBTB42 Gene

ENSEMBL:
Gene Tree for ZBTB42 (if available)
TreeFam:
Gene Tree for ZBTB42 (if available)

Paralogs for ZBTB42 Gene

Selected SIMAP similar genes for ZBTB42 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for ZBTB42 Gene

genes like me logo Genes that share paralogs with ZBTB42: view

Variants for ZBTB42 Gene

Sequence variations from dbSNP and Humsavar for ZBTB42 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs2498784 -- 104,798,626(-) CTCCT(C/T)TCCAG upstream-variant-2KB
rs3803299 -- 104,804,556(-) GGTGC(C/T)GAGCT utr-variant-3-prime
rs3803300 -- 104,803,442(-) AGGGA(A/G)ACCCC utr-variant-3-prime
rs4132468 -- 104,798,992(-) AGGAA(G/T)AGCTG upstream-variant-2KB
rs4145854 -- 104,802,431(-) GTGAA(A/C)cttgc missense, reference

Structural Variations from Database of Genomic Variants (DGV) for ZBTB42 Gene

Variant ID Type Subtype PubMed ID
dgv2009n71 CNV Loss 21882294
nsv902389 CNV Loss 21882294
nsv470677 CNV Loss 18288195
dgv2012n71 CNV Loss 21882294
nsv517038 CNV Loss 19592680
dgv2015n71 CNV Loss 21882294
nsv902407 CNV Gain 21882294
dgv2016n71 CNV Loss 21882294
dgv2017n71 CNV Loss 21882294
nsv511544 CNV Loss 21212237

Relevant External Links for ZBTB42 Gene

HapMap Linkage Disequilibrium report
ZBTB42
Human Gene Mutation Database (HGMD)
ZBTB42

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZBTB42 Gene

Disorders for ZBTB42 Gene

UniProtKB/Swiss-Prot

ZBT42_HUMAN
  • Lethal congenital contracture syndrome 6 (LCCS6) [MIM:616248]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy and congenital non-progressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS6 features include severe polyhydramnios and absent stomach, in addition to multiple contracture deformities. {ECO:0000269 PubMed:25055871}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ZBTB42

Genetic Association Database (GAD)
ZBTB42
Human Genome Epidemiology (HuGE) Navigator
ZBTB42
genes like me logo Genes that share disorders with ZBTB42: view

Publications for ZBTB42 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48
  3. Characterization of the ZBTB42 gene in humans and mice. (PMID: 21193930) Devaney S.A. … Hoffman E.P. (Hum. Genet. 2011) 3 4
  4. ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). (PMID: 25055871) Patel N. … Alkuraya F.S. (Hum. Mol. Genet. 2014) 3 4
  5. The DNA sequence and analysis of human chromosome 14. (PMID: 12508121) Heilig R. … Weissenbach J. (Nature 2003) 4

Products for ZBTB42 Gene

Sources for ZBTB42 Gene

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