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Aliases for ZBTB42 Gene

Aliases for ZBTB42 Gene

  • Zinc Finger And BTB Domain Containing 42 2 3 5
  • Zinc Finger And BTB Domain-Containing Protein 42 3
  • ZNF925 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. Diseases associated with ZBTB42 include Lethal Congenital Contracture Syndrome 6 and Lethal Congenital Contracture Syndrome. An important paralog of this gene is ZBTB18.

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

Enhancers for ZBTB42 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
GH14F104814 0.7 ENCODE 10.8 +15.2 15202 2.8 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF207 LINC00638 SIVA1 ENSG00000257270 ZBTB42 CEP170B CRIP2 ENSG00000279140
GH14F104751 0.2 ENCODE 10.7 -46.6 -46635 4.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 FOS AKT1 SIVA1 ENSG00000257270 ZBTB42 PPP1R13B LOC102723342
GH14F105414 1 Ensembl ENCODE 10.5 +614.5 614496 1.8 CREB3L1 ZNF76 DEAF1 SIN3A ZNF48 GLIS2 ZNF143 CREM EGR2 THAP11 SIVA1 ENSG00000225200 ZBTB42 ENSG00000257270 LOC100507437 TEX22
GH14F104793 0.9 ENCODE 5.6 -4.8 -4781 5.2 ZFP64 ARID4B SIN3A ZNF121 GLIS2 ZNF263 SP3 REST ZSCAN16 SMARCA4 AKT1 ZBTB42 INF2
GH14F104798 0.5 ENCODE 5.1 -0.3 -305 3.0 ATF1 PKNOX1 MLX ARID4B SIN3A ZNF2 SLC30A9 ZNF121 GLIS2 KLF7 AKT1 ZBTB42 SIVA1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ZBTB42 on UCSC Golden Path with GeneCards custom track

Promoters for ZBTB42 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000424523 204 1601 PKNOX1 MLX ARID4B SIN3A ZNF2 SLC30A9 ZNF121 GLIS2 KLF7 KDM4B
ENSR00001792799 -896 201 CTCF ZBTB8A RAD21 PRDM2 ZNF121 GATA3 PATZ1 ETV4 ZNF600

Genomic Location for ZBTB42 Gene

Chromosome:
14
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

Genes around ZBTB42 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZBTB42 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for ZBTB42 Gene

Gene Families for ZBTB42 Gene

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 :
  • Contains 1 BTB (POZ) domain.
  • Belongs to the krueppel C2H2-type zinc-finger protein family. ZBTB18 subfamily.
  • Contains 4 C2H2-type zinc fingers.
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:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ZBTB42: view
genes like me logo Genes that share phenotypes with ZBTB42: view

Human Phenotype Ontology for ZBTB42 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
plasma membrane 4
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 --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ZBTB42: view

Pathways & Interactions 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:0006355 regulation of 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 and SIGNOR curated interactions for ZBTB42 Gene

Transcripts for ZBTB42 Gene

mRNA/cDNA for ZBTB42 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(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:

Inhibitory RNA Products

Clone Products

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 (x4.5).

Protein differential expression in normal tissues from HIPED for ZBTB42 Gene

This gene is overexpressed in Pancreas (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ZBTB42 Gene



Protein tissue co-expression partners for ZBTB42 Gene

NURSA nuclear receptor signaling pathways regulating expression of ZBTB42 Gene:

ZBTB42

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 expression patterns with ZBTB42: view

Primer 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 34 35
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia ZBTB42 35
  • 89 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ZBTB42 34 35
  • 81.76 (n)
mouse
(Mus musculus)
Mammalia Zbtb42 34 16 35
  • 78.52 (n)
rat
(Rattus norvegicus)
Mammalia Zbtb42 34
  • 78.04 (n)
oppossum
(Monodelphis domestica)
Mammalia ZBTB42 35
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZBTB42 35
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ZBTB42 35
  • 50 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ZBTB42 35
  • 40 (a)
OneToOne
Species where no ortholog for ZBTB42 was found in the sources mined by GeneCards:
  • 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

(20) SIMAP similar genes for ZBTB42 Gene using alignment to 1 proteins:

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
rs730882163 Lethal congenital contracture syndrome 6 (LCCS6) [MIM:616248], Pathogenic 104,802,387(+) TGAGC(A/G)CCGTT reference, missense
rs10141867 -- 104,801,767(+) GACCT(A/G)TCGTT reference, synonymous-codon
rs111385003 -- 104,800,657(+) GAGGG(A/C)GCGCG upstream-variant-2KB, utr-variant-5-prime
rs111943524 -- 104,805,185(+) CCTGG(C/T)GGGAG downstream-variant-500B
rs112593542 -- 104,801,152(+) CAGGC(C/G)CGCTG intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv3953n54 CNV gain 21841781
dgv3957n54 CNV loss 21841781
dgv3958n54 CNV loss 21841781
esv3635627 CNV gain 21293372
nsv1054574 CNV loss 25217958
nsv1069824 CNV deletion 25765185
nsv1143618 CNV deletion 24896259
nsv470677 CNV loss 18288195
nsv511544 CNV loss 21212237
nsv517038 CNV loss 19592680
nsv566057 CNV gain+loss 21841781
nsv566069 CNV loss 21841781
nsv566073 CNV loss 21841781
nsv952271 CNV deletion 24416366

Variation tolerance for ZBTB42 Gene

Gene Damage Index Score: 2.64; 45.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZBTB42 Gene

Human Gene Mutation Database (HGMD)
ZBTB42
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZBTB42

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

Disorders for ZBTB42 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ZBTB42 Gene - From: OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lethal congenital contracture syndrome 6
  • lccs6
lethal congenital contracture syndrome
  • lethal congenital contracture syndrome 1
arthrogryposis, distal, type 2a
  • distal arthrogryposis
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZBTB42
genes like me logo Genes that share disorders with ZBTB42: view

No data available for Genatlas for ZBTB42 Gene

Publications for ZBTB42 Gene

  1. ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). (PMID: 25055871) Patel N. … Alkuraya F.S. (Hum. Mol. Genet. 2014) 3 4 64
  2. Characterization of the ZBTB42 gene in humans and mice. (PMID: 21193930) Devaney S.A. … Hoffman E.P. (Hum. Genet. 2011) 3 4 64
  3. 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 46 64
  4. 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 64
  5. Discovery and refinement of loci associated with lipid levels. (PMID: 24097068) . … Abecasis G.R. (Nat. Genet. 2013) 3 64

Products for ZBTB42 Gene

Sources for ZBTB42 Gene

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