ENSG00000066084


Homo sapiens

Features
Gene ID: ENSG00000066084
  
Biological name :DIP2B
  
Synonyms : DIP2B / disco interacting protein 2 homolog B / Q9P265
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q13.12
Gene start: 50504985
Gene end: 50748667
  
Corresponding Affymetrix probe sets: 1553271_at (Human Genome U133 Plus 2.0 Array)   224872_at (Human Genome U133 Plus 2.0 Array)   242970_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000301180
Ensembl peptide - ENSP00000450181
NCBI entrez gene - 57609     See in Manteia.
OMIM - 611379
RefSeq - XM_017019705
RefSeq - NM_173602
RefSeq - XM_017019702
RefSeq - XM_017019703
RefSeq - XM_017019704
RefSeq - XM_005269044
RefSeq - XM_006719520
RefSeq - XM_006719521
RefSeq - XM_011538594
RefSeq - XM_011538595
RefSeq - XM_011538596
RefSeq - XM_017019699
RefSeq - XM_017019700
RefSeq - XM_017019701
RefSeq Peptide - NP_775873
swissprot - Q9P265
swissprot - H0YIU5
Ensembl - ENSG00000066084
  
Related genetic diseases (OMIM): 136630 - Mental retardation, FRA12A type, 136630
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
 dip2baENSDARG00000005350Danio rerio
 dip2bbENSDARG00000016348Danio rerio
 DIP2BENSGALG00000034965Gallus gallus
 Dip2bENSMUSG00000023026Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DIP2C / Q9Y2E4 / disco interacting protein 2 homolog CENSG0000015124072
DIP2A / Q14689 / disco interacting protein 2 homolog AENSG0000016030571


Protein motifs (from Interpro)
Interpro ID Name
 IPR000873  AMP-dependent synthetase/ligase
 IPR010506  DMAP1-binding domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008150 biological_process ND
 biological_processGO:0008152 metabolic process IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003674 molecular_function ND
 molecular_functionGO:0003824 catalytic activity IEA


Pathways (from Reactome)
Pathway description
No match


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]
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 HP:0000962 Hyperkeratosis "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0003812 Phenotypic variability 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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