Human Gene ZBTB42 (ENST00000342537.8) Description and Page Index
  Description: Homo sapiens zinc finger and BTB domain containing 42 (ZBTB42), transcript variant 1, mRNA. (from RefSeq NM_001137601)
RefSeq Summary (NM_001137601): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript is intronless :: BC171822.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000342537.8/ ENSP00000409107.2 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END##
Gencode Transcript: ENST00000342537.8
Gencode Gene: ENSG00000179627.10
Transcript (Including UTRs)
   Position: hg38 chr14:104,801,101-104,804,712 Size: 3,612 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg38 chr14:104,801,198-104,802,466 Size: 1,269 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:104,801,101-104,804,712)mRNA (may differ from genome)Protein (422 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: ZBT42_HUMAN
DESCRIPTION: RecName: Full=Zinc finger and BTB domain-containing protein 42;
FUNCTION: Transcriptional repressor. Specifically binds DNA and probably acts by recruiting chromatin remodeling multiprotein complexes (By similarity).
SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus. Nucleus, nucleoplasm (By similarity). Note=In skeletal myofibers, highly enriched in subsynaptic nuclei at the neuromuscular junctions (By similarity).
TISSUE SPECIFICITY: Expressed in skeletal muscle.
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family. ZNF238 subfamily.
SIMILARITY: Contains 1 BTB (POZ) domain.
SIMILARITY: Contains 4 C2H2-type zinc fingers.

-  MalaCards Disease Associations
  MalaCards Gene Search: ZBTB42
Diseases sorted by gene-association score: lethal congenital contracture syndrome 6* (1279), lethal congenital contracture syndrome (42), distal arthrogryposis (1)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.13 RPKM in Pancreas
Total median expression: 86.78 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -49.3097-0.508 Picture PostScript Text
3' UTR -1015.602246-0.452 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
IPR000210 - BTB/POZ-like
IPR011333 - BTB/POZ_fold
IPR013069 - BTB_POZ
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00651 - BTB/POZ domain

ModBase Predicted Comparative 3D Structure on B2RXF5
FrontTopSide
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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007517 muscle organ development

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  AX721091 - Sequence 51 from Patent WO0220754.
BC157833 - Homo sapiens zinc finger and BTB domain containing 42, mRNA (cDNA clone MGC:189728 IMAGE:9057052), complete cds.
BC171822 - Homo sapiens zinc finger and BTB domain containing 42, mRNA (cDNA clone MGC:198537 IMAGE:9054476), complete cds.
KJ900810 - Synthetic construct Homo sapiens clone ccsbBroadEn_10204 ZBTB42 gene, encodes complete protein.
AK125003 - Homo sapiens cDNA FLJ43013 fis, clone BRTHA2016215.
DQ584724 - Homo sapiens piRNA piR-51836, complete sequence.
DQ600350 - Homo sapiens piRNA piR-38416, complete sequence.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RXF5, B7ZW21, NM_001137601, uc021sem.1, uc021sem.2, uc021sem.3, uc021sem.4, ZBT42_HUMAN
UCSC ID: uc021sem.4
RefSeq Accession: NM_001137601
Protein: B2RXF5 (aka ZBT42_HUMAN)
CCDS: CCDS45174.1

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