ENSG00000133422


Homo sapiens

Features
Gene ID: ENSG00000133422
  
Biological name :MORC2
  
Synonyms : MORC2 / MORC family CW-type zinc finger 2 / Q9Y6X9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: -1
Band: q12.2
Gene start: 30925130
Gene end: 30968298
  
Corresponding Affymetrix probe sets: 203956_at (Human Genome U133 Plus 2.0 Array)   216863_s_at (Human Genome U133 Plus 2.0 Array)   228449_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000215862
Ensembl peptide - ENSP00000380763
Ensembl peptide - ENSP00000402602
Ensembl peptide - ENSP00000412685
NCBI entrez gene - 22880     See in Manteia.
OMIM - 616661
RefSeq - XM_017028668
RefSeq - NM_001303256
RefSeq - NM_001303257
RefSeq - NM_014941
RefSeq - XM_011530004
RefSeq - XM_017028667
RefSeq Peptide - NP_001290186
RefSeq Peptide - NP_055756
RefSeq Peptide - NP_001290185
swissprot - H7C3M1
swissprot - Q9Y6X9
swissprot - H7C1V1
Ensembl - ENSG00000133422
  
Related genetic diseases (OMIM): 616688 - Charcot-Marie-Tooth disease, axonal, type 2Z, 616688
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
 morc2ENSDARG00000028539Danio rerio
 Morc2aENSMUSG00000034543Mus musculus
 Morc2bENSMUSG00000048602Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MORC1 / Q86VD1 / MORC family CW-type zinc finger 1ENSG0000011448735
MORC3 / Q14149 / MORC family CW-type zinc finger 3ENSG0000015925622
MORC4 / Q8TE76 / MORC family CW-type zinc finger 4ENSG0000013313120


Protein motifs (from Interpro)
Interpro ID Name
 IPR003594  Histidine kinase/HSP90-like ATPase
 IPR011124  Zinc finger, CW-type
 IPR027267  AH/BAR domain superfamily
 IPR036890  Histidine kinase/HSP90-like ATPase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006631 fatty acid metabolic process IEA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Fatty acyl-CoA biosynthesis


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]
Show

 HP:0000020 Urinary incontinence "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken]
Show

 HP:0000365 Hearing loss 
Show

 HP:0001171 Ectrodactyly (hands) 
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:0001270 Motor retardation 
Show

 HP:0001276 Hypertonia 
Show

 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
Show

 HP:0001620 High pitched voice 
Show

 HP:0001761 Pes cavus 
Show

 HP:0002355 Difficulty walking 
Show

 HP:0002380 Fasciculations "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators]
Show

 HP:0002411 Myokymia 
Show

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

 HP:0002936 Distal sensory impairment 
Show

 HP:0003394 Muscle cramps 
Show

 HP:0003677 Slow progression 
Show

 HP:0003812 Phenotypic variability 
Show

 HP:0007256 Mild pyramidal signs 
Show

 HP:0009027 Foot dorsiflexor weakness 
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