ENSG00000126970


Homo sapiens

Features
Gene ID: ENSG00000126970
  
Biological name :ZC4H2
  
Synonyms : Q9NQZ6 / ZC4H2 / zinc finger C4H2-type containing
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q11.2
Gene start: 64915802
Gene end: 65034713
  
Corresponding Affymetrix probe sets: 220040_x_at (Human Genome U133 Plus 2.0 Array)   225784_s_at (Human Genome U133 Plus 2.0 Array)   234809_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000338650
Ensembl peptide - ENSP00000363972
Ensembl peptide - ENSP00000399126
NCBI entrez gene - 55906     See in Manteia.
OMIM - 300897
RefSeq - NM_001243804
RefSeq - NM_001178032
RefSeq - NM_001178033
RefSeq - NM_018684
RefSeq Peptide - NP_001171503
RefSeq Peptide - NP_001171504
RefSeq Peptide - NP_001230733
RefSeq Peptide - NP_061154
swissprot - Q9NQZ6
Ensembl - ENSG00000126970
  
Related genetic diseases (OMIM): 314580 - Wieacker-Wolff syndrome, 314580
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
 zc4h2ENSDARG00000015314Danio rerio
 ZC4H2ENSGALG00000042725Gallus gallus
 Zc4h2ENSMUSG00000035062Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR018482  Zinc finger, C4H2-type


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IDA
 biological_processGO:0007528 neuromuscular junction development ISS
 biological_processGO:0021522 spinal cord motor neuron differentiation ISS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0045666 positive regulation of neuron differentiation IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
Show

 HP:0000508 Ptosis "Drooping of the eyelid." [HPO:curators]
Show

 HP:0000657 Oculomotor apraxia 
Show

 HP:0001256 Mental retardation, mild "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators]
Show

 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
Show

 HP:0001376 Decreased mobility of joints 
Show

 HP:0002167 Neurological speech impairment 
Show

 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
Show

 HP:0002808 Kyphosis 
Show

 HP:0003693 Distal amyotrophy "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators]
Show

 HP:0004209 Clinodactyly of the 5th finger "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators]
Show

 HP:0005745 Congenital foot contractures 
Show

 HP:0100022 Abnormality of movement "An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr