ENSG00000136367


Homo sapiens

Features
Gene ID: ENSG00000136367
  
Biological name :ZFHX2
  
Synonyms : Q9C0A1 / ZFHX2 / zinc finger homeobox 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q11.2
Gene start: 23520855
Gene end: 23556192
  
Corresponding Affymetrix probe sets: 207699_at (Human Genome U133 Plus 2.0 Array)   231946_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000451342
Ensembl peptide - ENSP00000478696
Ensembl peptide - ENSP00000409464
Ensembl peptide - ENSP00000413418
NCBI entrez gene - 85446     See in Manteia.
OMIM - 617828
RefSeq - XM_017021716
RefSeq - XM_011537245
RefSeq - XM_011537246
RefSeq - XM_011537247
RefSeq - XM_017021714
RefSeq - XM_017021715
RefSeq - NM_033400
RefSeq Peptide - NP_207646
swissprot - C9JSX6
swissprot - G3V3N5
swissprot - A2RRC6
swissprot - Q9C0A1
Ensembl - ENSG00000136367
  
Related genetic diseases (OMIM): 147430 - ?Marsili syndrome, 147430

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
 Zfhx2ENSMUSG00000040721Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ZFHX4 / Q86UP3 / zinc finger homeobox 4ENSG0000009165637
ZFHX3 / Q15911 / zinc finger homeobox 3ENSG0000014083637


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR003604  Matrin/U1-C-like, C2H2-type zinc finger
 IPR009057  Homeobox-like domain superfamily
 IPR013087  Zinc finger C2H2-type
 IPR017970  Homeobox, conserved site
 IPR027028  Zinc finger homeobox protein 2
 IPR036236  Zinc finger C2H2 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0030534 adult behavior IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0043565 sequence-specific DNA 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:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0003593 Early onset 
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 HP:0007021 Pain insensitivity, diffuse 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
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contact: otassy@igbmc.fr