ENSG00000136861


Homo sapiens

Features
Gene ID: ENSG00000136861
  
Biological name :CDK5RAP2
  
Synonyms : CDK5RAP2 / CDK5 regulatory subunit associated protein 2 / Q96SN8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: -1
Band: q33.2
Gene start: 120388869
Gene end: 120580170
  
Corresponding Affymetrix probe sets: 220935_s_at (Human Genome U133 Plus 2.0 Array)   233540_s_at (Human Genome U133 Plus 2.0 Array)   243153_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000417925
Ensembl peptide - ENSP00000409941
Ensembl peptide - ENSP00000418418
Ensembl peptide - ENSP00000419640
Ensembl peptide - ENSP00000419265
Ensembl peptide - ENSP00000343818
Ensembl peptide - ENSP00000353317
Ensembl peptide - ENSP00000354065
Ensembl peptide - ENSP00000400395
NCBI entrez gene - 55755     See in Manteia.
OMIM - 608201
RefSeq - XM_017014924
RefSeq - NM_001011649
RefSeq - NM_001272039
RefSeq - NM_018249
RefSeq - XM_006717182
RefSeq - XM_006717185
RefSeq - XM_011518860
RefSeq - XM_017014921
RefSeq - XM_017014922
RefSeq - XM_017014923
RefSeq Peptide - NP_001258968
RefSeq Peptide - NP_060719
RefSeq Peptide - NP_001011649
swissprot - B1AMJ5
swissprot - F8WBJ0
swissprot - F8WCI3
swissprot - F8WF55
swissprot - Q5JTU8
swissprot - Q96SN8
swissprot - A0A0A0MRG9
swissprot - C9K0C9
Ensembl - ENSG00000136861
  
Related genetic diseases (OMIM): 604804 - Microcephaly 3, primary, autosomal recessive, 604804
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
 zgc:55582ENSDARG00000024219Danio rerio
 CDK5RAP2ENSGALG00000041102Gallus gallus
 Q8K389ENSMUSG00000039298Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q5VU43 / PDE4DIP / phosphodiesterase 4D interacting proteinENSG0000017810425


Protein motifs (from Interpro)
Interpro ID Name
 IPR012943  Centrosomin, N-terminal motif 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000086 G2/M transition of mitotic cell cycle TAS
 biological_processGO:0000132 establishment of mitotic spindle orientation ISS
 biological_processGO:0000226 microtubule cytoskeleton organization IDA
 biological_processGO:0001578 microtubule bundle formation IDA
 biological_processGO:0007059 chromosome segregation IMP
 biological_processGO:0007098 centrosome cycle IMP
 biological_processGO:0007099 centriole replication IMP
 biological_processGO:0007420 brain development NAS
 biological_processGO:0010389 regulation of G2/M transition of mitotic cell cycle TAS
 biological_processGO:0022008 neurogenesis ISS
 biological_processGO:0031023 microtubule organizing center organization IMP
 biological_processGO:0031116 positive regulation of microtubule polymerization IMP
 biological_processGO:0045664 regulation of neuron differentiation NAS
 biological_processGO:0045665 negative regulation of neuron differentiation IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0046600 negative regulation of centriole replication ISS
 biological_processGO:0090266 regulation of mitotic cell cycle spindle assembly checkpoint IDA
 biological_processGO:0097711 ciliary basal body-plasma membrane docking TAS
 cellular_componentGO:0000242 pericentriolar material IDA
 cellular_componentGO:0000922 spindle pole IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton NAS
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0008274 gamma-tubulin ring complex IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IDA
 cellular_componentGO:0035371 microtubule plus-end IDA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0097431 mitotic spindle pole IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005516 calmodulin binding IEA
 molecular_functionGO:0008017 microtubule binding IDA
 molecular_functionGO:0015631 tubulin binding IPI
 molecular_functionGO:0019901 protein kinase binding IPI
 molecular_functionGO:0043015 gamma-tubulin binding IDA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA


Pathways (from Reactome)
Pathway description
Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2


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:0000076 Vesicoureteral reflux "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators]
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 HP:0000122 Unilateral renal agenesis 
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 HP:0000219 Thin upper lip 
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000340 Sloping forehead "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000520 Proptosis 
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 HP:0000582 Upslanting palpebral fissures 
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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:0001274 Agenesis of corpus callosum "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators]
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 HP:0001302 Pachygyria "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators]
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0002119 Ventriculomegaly 
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 HP:0002282 Heterotopia 
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 HP:0002342 Mental retardation, moderate "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators]
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 HP:0002472 Small cerebral cortex 
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 HP:0003103 Abnormality of cortical bone "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones." [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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 HP:0007333 Hypoplastic frontal lobes "Underdevelopment of the frontal lobe of the cerebrum." [HPO:sdoelken]
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 HP:0009879 Cortical gyral simplification "An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex." [HPO:curators]
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 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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contact: otassy@igbmc.fr