ENSG00000141431


Homo sapiens

Features
Gene ID: ENSG00000141431
  
Biological name :ASXL3
  
Synonyms : additional sex combs like 3, transcriptional regulator / ASXL3 / Q9C0F0
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: 1
Band: q12.1
Gene start: 33578233
Gene end: 33751192
  
Corresponding Affymetrix probe sets: 214162_at (Human Genome U133 Plus 2.0 Array)   232838_at (Human Genome U133 Plus 2.0 Array)   233536_at (Human Genome U133 Plus 2.0 Array)   233686_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000465053
Ensembl peptide - ENSP00000466655
Ensembl peptide - ENSP00000493665
Ensembl peptide - ENSP00000269197
Ensembl peptide - ENSP00000466073
NCBI entrez gene - 80816     See in Manteia.
OMIM - 615115
RefSeq - XM_017026014
RefSeq - XM_011526210
RefSeq - XM_011526212
RefSeq - XM_011526213
RefSeq - XM_017026012
RefSeq - XM_017026013
RefSeq - NM_030632
RefSeq - XM_005258356
RefSeq - XM_011526205
RefSeq - XM_011526206
RefSeq - XM_011526209
RefSeq Peptide - NP_085135
swissprot - K7EJ76
swissprot - K7ELG8
swissprot - K7EIX5
swissprot - Q9C0F0
Ensembl - ENSG00000141431
  
Related genetic diseases (OMIM): 615485 - Bainbridge-Ropers syndrome, 615485
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
 ASXL3ENSGALG00000015196Gallus gallus
 Asxl3ENSMUSG00000045215Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ASXL1 / Q8IXJ9 / additional sex combs like 1, transcriptional regulatorENSG0000017145620
ASXL2 / Q76L83 / additional sex combs like 2, transcriptional regulatorENSG0000014397013


Protein motifs (from Interpro)
Interpro ID Name
 IPR007759  HB1/Asxl, restriction endonuclease HTH domain
 IPR024811  Polycomb protein ASX/ASX-like
 IPR024818  ASX-like protein 3
 IPR026905  Protein ASX-like, PHD domain
 IPR028020  ASX homology domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0003677 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:0000463 Nares, anteverted "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject." [pmid:19152422]
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 HP:0002553 Arched eyebrows 
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 HP:0008850 Postnatal growth retardation, severe 
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 HP:0011344 Severe global developmental delay "A severe delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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