ENSG00000169372


Homo sapiens

Features
Gene ID: ENSG00000169372
  
Biological name :CRADD
  
Synonyms : CASP2 and RIPK1 domain containing adaptor with death domain / CRADD / P78560
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q22
Gene start: 93677375
Gene end: 93894840
  
Corresponding Affymetrix probe sets: 209833_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000449664
Ensembl peptide - ENSP00000448685
Ensembl peptide - ENSP00000449570
Ensembl peptide - ENSP00000327647
Ensembl peptide - ENSP00000439068
Ensembl peptide - ENSP00000448425
NCBI entrez gene - 8738     See in Manteia.
OMIM - 603454
RefSeq - XM_017020144
RefSeq - NM_001320099
RefSeq - NM_001320100
RefSeq - NM_001320101
RefSeq - NM_003805
RefSeq - XM_017020142
RefSeq Peptide - NP_001307028
RefSeq Peptide - NP_001307029
RefSeq Peptide - NP_003796
RefSeq Peptide - NP_001307030
RefSeq Peptide - NP_001317055
swissprot - Q53XL1
swissprot - F8VV49
swissprot - F8VVY5
swissprot - P78560
swissprot - F5H7C2
Ensembl - ENSG00000169372
  
Related genetic diseases (OMIM): 614499 - Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499
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
 craddENSDARG00000028192Danio rerio
 CRADDENSGALG00000011297Gallus gallus
 CraddENSMUSG00000045867Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR000488  Death domain
 IPR001315  CARD domain
 IPR011029  Death-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process IEA
 biological_processGO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest IMP
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0008625 extrinsic apoptotic signaling pathway via death domain receptors IC
 biological_processGO:0042981 regulation of apoptotic process TAS
 biological_processGO:0043065 positive regulation of apoptotic process IDA
 biological_processGO:0071260 cellular response to mechanical stimulus IEP
 biological_processGO:2001235 positive regulation of apoptotic signaling pathway IEA
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0002020 protease binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030674 protein binding, bridging IPI
 molecular_functionGO:0070513 death domain binding IPI


Pathways (from Reactome)
Pathway description
TP53 Regulates Transcription of Caspase Activators and Caspases


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]
Show

 HP:0000750 Impaired language development 
Show

 HP:0001249 Mental retardation 
Show

 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]
Show

 HP:0001339 Lissencephaly "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure." [HPO:curators]
Show

 HP:0001355 Megalencephaly "The presence of an unusually large, and usually malfunctioning brain." [HPO:curators]
Show

 HP:0040194 Increased head circumference 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000106144 CASP2 / P42575 / caspase 2  / reaction / complex
 ENSG00000169372 CRADD / P78560 / CASP2 and RIPK1 domain containing adaptor with death domain  / reaction / complex
 ENSG00000177595 PIDD1 / Q9HB75 / p53-induced death domain protein 1  / complex / reaction






 

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