ENSG00000136051


Homo sapiens

Features
Gene ID: ENSG00000136051
  
Biological name :WASHC4
  
Synonyms : Q2M389 / WASHC4 / WASH complex subunit 4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q23.3
Gene start: 105107324
Gene end: 105169134
  
Corresponding Affymetrix probe sets: 212794_s_at (Human Genome U133 Plus 2.0 Array)   212795_at (Human Genome U133 Plus 2.0 Array)   215936_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000473263
Ensembl peptide - ENSP00000450243
Ensembl peptide - ENSP00000484713
Ensembl peptide - ENSP00000328062
Ensembl peptide - ENSP00000447015
Ensembl peptide - ENSP00000448966
Ensembl peptide - ENSP00000450166
NCBI entrez gene - 23325     See in Manteia.
OMIM - 615748
RefSeq - XM_017019082
RefSeq - NM_001293640
RefSeq - NM_015275
RefSeq - XM_011538073
RefSeq - XM_011538074
RefSeq - XM_011538077
RefSeq Peptide - NP_001280569
RefSeq Peptide - NP_056090
swissprot - F8VNZ5
swissprot - F8VQX3
swissprot - F8VYH7
swissprot - F8W1W1
swissprot - A0A087X256
swissprot - R4GMM5
swissprot - Q2M389
Ensembl - ENSG00000136051
  
Related genetic diseases (OMIM): 615817 - ?Mental retardation, autosomal recessive 43, 615817
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
 washc4ENSDARG00000061719Danio rerio
 WASHC4ENSGALG00000028254Gallus gallus
 Q3UMB9ENSMUSG00000034560Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR027307  WASH complex subunit 7
 IPR028191  WASH complex subunit 7, N-terminal
 IPR028282  WASH complex subunit 7, central domain
 IPR028283  WASH complex subunit 7, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007032 endosome organization IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016197 endosomal transport IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0031083 BLOC-1 complex IDA
 cellular_componentGO:0071203 WASH complex 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:0001249 Mental retardation 
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 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]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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