ENSG00000155966


Homo sapiens

Features
Gene ID: ENSG00000155966
  
Biological name :AFF2
  
Synonyms : AF4/FMR2 family member 2 / AFF2 / P51816
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q28
Gene start: 148500619
Gene end: 149000663
  
Corresponding Affymetrix probe sets: 206105_at (Human Genome U133 Plus 2.0 Array)   210957_s_at (Human Genome U133 Plus 2.0 Array)   216364_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000359487
Ensembl peptide - ENSP00000286437
Ensembl peptide - ENSP00000345459
Ensembl peptide - ENSP00000359489
Ensembl peptide - ENSP00000359486
NCBI entrez gene - 2334     See in Manteia.
OMIM - 300806
RefSeq - NM_001169125
RefSeq - NM_001169122
RefSeq - NM_001169123
RefSeq - NM_001169124
RefSeq - NM_001170628
RefSeq - NM_002025
RefSeq Peptide - NP_001162593
RefSeq Peptide - NP_001162594
RefSeq Peptide - NP_001162595
RefSeq Peptide - NP_001162596
RefSeq Peptide - NP_001164099
RefSeq Peptide - NP_002016
swissprot - P51816
Ensembl - ENSG00000155966
  
Related genetic diseases (OMIM): 309548 - Mental retardation, X-linked, FRAXE type, 309548
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
 aff2ENSDARG00000052242Danio rerio
 AFF2ENSGALG00000009168Gallus gallus
 Aff2ENSMUSG00000031189Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AFF3 / P51826 / AF4/FMR2 family member 3ENSG0000014421838
AFF4 / Q9UHB7 / AF4/FMR2 family member 4ENSG0000007236433
AFF1 / P51825 / AF4/FMR2 family member 1ENSG0000017249328


Protein motifs (from Interpro)
Interpro ID Name
 IPR007797  Transcription factor AF4/FMR2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0007420 brain development TAS
 biological_processGO:0007611 learning or memory IEA
 biological_processGO:0008380 RNA splicing IEA
 biological_processGO:0010468 regulation of gene expression IMP
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0035063 nuclear speck organization IMP
 biological_processGO:0043484 regulation of RNA splicing IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0016607 nuclear speck IEA
 molecular_functionGO:0002151 G-quadruplex RNA binding ISS
 molecular_functionGO:0003723 RNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000286 Epicanthus "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators]
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 HP:0000426 Prominent nasal bridge 
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 HP:0000713 Agitation 
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 HP:0000718 Aggressive behavior "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators]
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 HP:0000722 Obsessive-compulsive disorder 
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 HP:0000750 Impaired language development 
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 HP:0000752 Hyperactivity 
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 HP:0001249 Mental retardation 
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 HP:0001417 X-linked inheritance "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001939 Metabolism abnormality 
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 HP:0100710 Impulsivity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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