ENSG00000179627


Homo sapiens

Features
Gene ID: ENSG00000179627
  
Biological name :ZBTB42
  
Synonyms : B2RXF5 / ZBTB42 / zinc finger and BTB domain containing 42
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q32.33
Gene start: 104800596
Gene end: 104804712
  
Corresponding Affymetrix probe sets: 229691_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000409107
Ensembl peptide - ENSP00000450673
NCBI entrez gene - 100128927     See in Manteia.
OMIM - 613915
RefSeq - NM_001137601
RefSeq - XM_017020911
RefSeq Peptide - NP_001131073
swissprot - B2RXF5
Ensembl - ENSG00000179627
  
Related genetic diseases (OMIM): 616248 - ?Lethal congenital contracture syndrome 6, 616248

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 Q811H0ENSMUSG00000037638Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q99592 / ZBTB18 / zinc finger and BTB domain containing 18ENSG0000017945651
ZBTB3 / Q9H5J0 / zinc finger and BTB domain containing 3ENSG0000018567037
HIC1 / Q14526 / HIC ZBTB transcriptional repressor 1ENSG0000017737428
HIC2 / Q96JB3 / HIC ZBTB transcriptional repressor 2ENSG0000016963527
O15156 / ZBTB7B / zinc finger and BTB domain containing 7BENSG0000016068523
ZBTB5 / O15062 / zinc finger and BTB domain containing 5ENSG0000016879523
Q86UZ6 / ZBTB46 / zinc finger and BTB domain containing 46ENSG0000013058422
A1YPR0 / ZBTB7C / zinc finger and BTB domain containing 7CENSG0000018482822
AL033529.1ENSG0000025455322
Q8NAP8 / ZBTB8B / zinc finger and BTB domain containing 8BENSG0000027327422
O95365 / ZBTB7A / zinc finger and BTB domain containing 7AENSG0000017895121
Q96BR9 / ZBTB8A / zinc finger and BTB domain containing 8AENSG0000016006220
Q96DT7 / ZBTB10 / zinc finger and BTB domain containing 10ENSG0000020518917


Protein motifs (from Interpro)
Interpro ID Name
 IPR000210  BTB/POZ domain
 IPR011333  SKP1/BTB/POZ domain superfamily
 IPR013087  Zinc finger C2H2-type
 IPR036236  Zinc finger C2H2 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0007517 muscle organ development IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IDA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0001558 Decreased fetal movement "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators]
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 HP:0002803 Congenital contractures 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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