Aliases for CDK5RAP2 Gene
Aliases for CDK5RAP2 Gene
External Ids for CDK5RAP2 Gene
- HGNC: 18672
- Entrez Gene: 55755
- Ensembl: ENSG00000136861
- OMIM: 608201
- UniProtKB: Q96SN8
Previous HGNC Symbols for CDK5RAP2 Gene
- MCPH3
Previous GeneCards Identifiers for CDK5RAP2 Gene
- GC09M114255
- GC09M114797
- GC09M116604
- GC09M118527
- GC09M120230
- GC09M122190
- GC09M123151
- GC09M092769
Summaries for CDK5RAP2 Gene
-
This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
GeneCards Summary for CDK5RAP2 Gene
CDK5RAP2 (CDK5 Regulatory Subunit Associated Protein 2) is a Protein Coding gene. Diseases associated with CDK5RAP2 include Microcephaly 3, Primary, Autosomal Recessive and Autosomal Recessive Primary Microcephaly. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. GO annotations related to this gene include protein kinase binding and transcription regulatory region DNA binding. An important paralog of this gene is PDE4DIP.
UniProtKB/Swiss-Prot for CDK5RAP2 Gene
-
Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter. Together with MAPRE1, it may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Regulates centrosomal maturation by recruitment of a gamma-tubulin ring complex onto centrosomes (PubMed:26485573).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDK5RAP2 Gene
Genomics for CDK5RAP2 Gene
Regulatory Elements for CDK5RAP2 Gene
Enhancers for CDK5RAP2 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH09G120729 | 1.8 | FANTOM5 Ensembl ENCODE dbSUPER | 9.6 | -150.6 | -150649 | 2.8 | PKNOX1 FOXA2 ATF1 MLX ARID4B BRCA1 YY1 GATA2 ELK1 ZNF143 | PSMD5-AS1 TRAF1 CDK5RAP2 AHCYP2 PIR59216 |
| GH09G120531 | 1.1 | Ensembl ENCODE | 15.7 | +47.2 | 47239 | 2.8 | HDGF TBP CBX3 BRCA1 RAD21 ZNF143 RCOR1 DEK SMARCA5 SP5 | CDK5RAP2 PSMD5-AS1 PIR33352 PIR42935 |
| GH09G120402 | 1.5 | Ensembl ENCODE dbSUPER | 7.9 | +176.4 | 176357 | 3.0 | PKNOX1 ATF1 ARNT FOS DEK REST ZNF592 CREB3 MAFF SMARCA4 | CDK5RAP2 PSMD5-AS1 GC09P120416 LOC105376253 |
| GH09G120538 | 1 | ENCODE | 11 | +41.6 | 41613 | 0.2 | FOXA2 MLX ARID4B DMAP1 YY1 TCF12 SLC30A9 FOS ZNF263 SP5 | CDK5RAP2 PIR33352 PIR42935 |
| GH09G120619 | 1 | ENCODE dbSUPER | 10.6 | -39.8 | -39768 | 0.2 | CTCF ZBTB40 RAD21 RFX5 ARID3A ZNF316 ZNF143 SMC3 MAFK DEK | MEGF9 CDK5RAP2 PSMD5-AS1 PIR45570 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CDK5RAP2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for CDK5RAP2 Gene
- Chromosome:
- 9
- Start:
- 120,388,869 bp from pter
- End:
- 120,580,170 bp from pter
- Size:
- 191,302 bases
- Orientation:
- Minus strand
Genomic View for CDK5RAP2 Gene
Genes around CDK5RAP2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q33.2 by Ensembl
- 9q33.2 by Entrez Gene
- 9q33.2 by HGNC
CDK5RAP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CDK5RAP2 Gene
Proteins for CDK5RAP2 Gene
-
Protein details for CDK5RAP2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96SN8-CK5P2_HUMAN
- Recommended name:
- CDK5 regulatory subunit-associated protein 2
- Protein Accession:
- Q96SN8
- Q5JV18
- Q7Z3L4
- Q7Z3U1
- Q7Z7I6
- Q9BSW0
- Q9H6J6
- Q9HCD9
- Q9NV90
- Q9UIW9
Protein attributes for CDK5RAP2 Gene
- Size:
- 1893 amino acids
- Molecular mass:
- 215038 Da
- Quaternary structure:
-
- Interacts with CDK5R1 (p35 form) (By similarity). CDK5RAP1, CDK5RAP2 and CDK5RAP3 show competitive binding to CDK5R1. Probably forms a complex with CDK5R1 and CDK5 (By similarity). Interacts with PCNT; the interaction is leading to centrosomal and Golgi localization of CDK5RAP2 and PCNT. Interacts with AKAP9; the interaction is leading to Golgi localization of CDK5RAP2 and AKAP9. Interacts with MAPRE1; the interaction is leading to microtubule attachment at plus ends of CDK5RAP2 and MAPRE1. Interacts with TUBG1; the interaction is leading to the centrosomal localization of CDK5RAP2 and TUBG1. Interacts with TUBGCP3. Interacts with CALM1. Interacts with CDC20. Interacts with CEP68; degradation of CEP68 in early mitosis leads to removal of CDK5RAP2 from the centrosome which promotes centriole disengagement and subsequent centriole separation (PubMed:25503564). Interacts with NCKAP5L (PubMed:26485573).
- SequenceCaution:
-
- Sequence=AAH04526.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91865.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB13459.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB15263.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55253.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD97663.1; Type=Erroneous termination; Positions=1205; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=CAD97828.1; Type=Frameshift; Positions=1831; Evidence={ECO:0000305};
Protein Expression for CDK5RAP2 Gene
Post-translational modifications for CDK5RAP2 Gene
- Phosphorylated in vitro by CDK5.
- Ubiquitination at posLast=489489, posLast=495495, posLast=592592, posLast=797797, posLast=11841184, Lys1215, Lys1233, and posLast=13201320
- Modification sites at PhosphoSitePlus
Other Protein References for CDK5RAP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for CDK5RAP2
-
Custom Antibody ServicesOriGene Antibodies for CDK5RAP2
- Novus Biologicals Antibodies for CDK5RAP2
- Invitrogen Antibodies for CDK5RAP2
- antibodies-online Antibodies for CDK5RAP2: See all 28
- GeneTex CDK5RAP2 antibody for CDK5RAP2
-
Santa Cruz Biotechnology (SCBT) Antibodies for CDK5RAP2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for CDK5RAP2
- Origene Custom Protein Services for CDK5RAP2
- Novus Biologicals proteins for CDK5RAP2
- Search GeneTex for Proteins for CDK5RAP2
Assay Products
- antibodies-online Kits for CDK5RAP2: See all 1
No data available for DME Specific Peptides for CDK5RAP2 Gene
Domains & Families for CDK5RAP2 Gene
Protein Domains for CDK5RAP2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CDK5RAP2 Gene
- GenScript: Design optimal peptide antigens:
-
- CDK5 regulatory subunit associated protein 2, isoform CRA_c (A6H8X1_HUMAN)
- CDK5 regulatory subunit associated protein 2 (B1AMJ5_HUMAN)
- CDK5 regulatory subunit associated protein 2 (B7ZLE9_HUMAN)
- CDK5 regulatory subunit associated protein 2 (B9EG74_HUMAN)
- Centrosome-associated protein 215 (CK5P2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families and UniProtKB/Swiss-Prot for CDK5RAP2 Gene
Function for CDK5RAP2 Gene
Molecular function for CDK5RAP2 Gene
- UniProtKB/Swiss-Prot Function:
- Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation (By similarity). Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter. Together with MAPRE1, it may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Regulates centrosomal maturation by recruitment of a gamma-tubulin ring complex onto centrosomes (PubMed:26485573).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 17959831 |
| GO:0005516 | calmodulin binding | IEA,IPI | -- |
| GO:0008017 | microtubule binding | IDA | 14654843 |
| GO:0015631 | tubulin binding | IPI | 17959831 |
| GO:0019901 | protein kinase binding | IPI | 10721722 |
Phenotypes for CDK5RAP2 Gene
- MGI mutant phenotypes for CDK5RAP2:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for CDK5RAP2:
Animal Models for CDK5RAP2 Gene
- MGI Knock Outs for CDK5RAP2:
-
- Cdk5rap2 tm1a(EUCOMM)Wtsi
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CDK5RAP2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CDK5RAP2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CDK5RAP2 gene
- Search ViGene Biosciences for CDK5RAP2
CRISPR Products
-
OriGene CRISPR knockouts for CDK5RAP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CDK5RAP2
- GenScript: Design CRISPR guide RNA sequences for CDK5RAP2
miRNA for CDK5RAP2 Gene
- miRTarBase miRNAs that target CDK5RAP2
miRNA Products
- Search ViGene Biosciences for CDK5RAP2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CDK5RAP2
- Browse OriGene Inhibitory RNA Products For CDK5RAP2
-
ViGene Biosciences ready-to-package AAV shRNAs for CDK5RAP2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CDK5RAP2
- VectorBuilder custom plasmid, inducible vectors for CDK5RAP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CDK5RAP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CDK5RAP2
-
ViGene Biosciences adenoviral particle packaged cDNA for CDK5RAP2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CDK5RAP2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CDK5RAP2 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CDK5RAP2 Gene
Localization for CDK5RAP2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CDK5RAP2 Gene
- Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Golgi apparatus. Cytoplasm. Note=Found in the pericentriolar region adhering to the surface of the centrosome and in the region of the centrosomal appendages. Localizes to microtubule plus ends. {ECO:0000269 PubMed:26485573}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytoskeleton | 5 |
| cytosol | 5 |
| golgi apparatus | 5 |
| nucleus | 3 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000242 | pericentriolar material | IDA | 17959831 |
| GO:0000922 | spindle pole | IDA | 17959831 |
| GO:0005737 | cytoplasm | IDA,IEA | 17959831 |
| GO:0005794 | Golgi apparatus | IEA,IDA | 20466722 |
| GO:0005813 | centrosome | IDA | 14654843 |
Pathways & Interactions for CDK5RAP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Regulation of PLK1 Activity at G2/M Transition |
.49
|
|
| 2 | Cell Cycle, Mitotic |
.83
|
|
| 3 | Organelle biogenesis and maintenance |
.56
|
|
Pathways by source for CDK5RAP2 Gene
13 Reactome pathways for CDK5RAP2 Gene
Interacting Proteins for CDK5RAP2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000086 | G2/M transition of mitotic cell cycle | TAS | -- |
| GO:0000132 | establishment of mitotic spindle orientation | ISS | -- |
| GO:0000226 | microtubule cytoskeleton organization | IDA | 17959831 |
| GO:0001578 | microtubule bundle formation | IDA | 19553473 |
| GO:0007059 | chromosome segregation | IMP | 19282672 |
No data available for SIGNOR curated interactions for CDK5RAP2 Gene
Transcripts for CDK5RAP2 Gene
mRNA/cDNA for CDK5RAP2 Gene
- (10) REFSEQ mRNAs :
- (31) Additional mRNA sequences :
- (290) Selected AceView cDNA sequences:
- (19) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CDK5RAP2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CDK5RAP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for CDK5RAP2
- GenScript: Design CRISPR guide RNA sequences for CDK5RAP2
miRNA Products
- Search ViGene Biosciences for CDK5RAP2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CDK5RAP2
- Browse OriGene Inhibitory RNA Products For CDK5RAP2
-
ViGene Biosciences ready-to-package AAV shRNAs for CDK5RAP2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CDK5RAP2
- VectorBuilder custom plasmid, inducible vectors for CDK5RAP2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CDK5RAP2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
| ExUns: | 24b | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38a | · | 38b | ^ | 39 | ^ | 40a | · | 40b | ^ | 41 | ^ | 42a | · | 42b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
Expression for CDK5RAP2 Gene
mRNA differential expression in normal tissues according to GTEx for CDK5RAP2 Gene
This gene is overexpressed in Whole Blood (x5.2).
This gene is overexpressed in Heart (34.8), Plasma (14.8), Peripheral blood mononuclear cells (7.7), and Bone marrow mesenchymal stem cell (7.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CDK5RAP2 Gene
NURSA nuclear receptor signaling pathways regulating expression of CDK5RAP2 Gene:
CDK5RAP2SOURCE GeneReport for Unigene cluster for CDK5RAP2 Gene:
Hs.269560mRNA Expression by UniProt/SwissProt for CDK5RAP2 Gene:
Q96SN8-CK5P2_HUMAN
Tissue specificity:
Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
Evidence on tissue expression from TISSUES for CDK5RAP2 Gene
- Nervous system(4.7)
- Lung(4.4)
- Kidney(4.2)
- Eye(4.1)
- Blood(4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CDK5RAP2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- integumentary
- nervous
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cerebellum
- chin
- cranial nerve
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Abdomen:
- kidney
Pelvis:
- pelvis
- ureter
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for CDK5RAP2
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CDK5RAP2 Gene
Orthologs for CDK5RAP2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CDK5RAP2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CDK5RAP2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Cdk5rap2 34 16 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CDK5RAP2 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cdk5rap2 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CDK5RAP2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CDK5RAP2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CDK5RAP2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.19841 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CDK5RAP2 35 |
|
OneToOne | |
| wufi74c05 34 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for CDK5RAP2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for CDK5RAP2 Gene
(4) SIMAP similar genes for CDK5RAP2 Gene using alignment to 11 proteins:
Variants for CDK5RAP2 Gene
| SNP ID | Clin | Chr 09 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs199422126 | Pathogenic | 120,550,852(-) | ATCTA(A/T)TTCCT | nc-transcript-variant, reference, stop-gained | |
| rs373278668 | Pathogenic | 120,408,401(+) | CACTC(A/G)GAGAG | nc-transcript-variant, reference, stop-gained | |
| rs374351172 | Pathogenic | 120,409,185(+) | TCTCT(A/C)CTTCT | nc-transcript-variant, reference, stop-gained | |
| rs387906274 | Pathogenic | 120,419,975(-) | TTTCA(A/G)TCTCA | intron-variant | |
| rs398122971 | Pathogenic | 120,530,103(-) | GCAAA(G/T)AAGCT | intron-variant, nc-transcript-variant, reference, stop-gained |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1966921 | CNV | deletion | 18987734 |
| esv2487988 | CNV | deletion | 19546169 |
| esv2647244 | CNV | loss | 19546169 |
| esv2663480 | CNV | deletion | 23128226 |
| esv2738996 | CNV | deletion | 23290073 |
| esv2761557 | CNV | loss | 21179565 |
| esv33143 | CNV | loss | 17666407 |
| esv3545404 | CNV | deletion | 23714750 |
| esv3545405 | CNV | deletion | 23714750 |
| esv3621652 | CNV | loss | 21293372 |
| esv7137 | CNV | loss | 19470904 |
| nsv1077179 | CNV | deletion | 25765185 |
| nsv1128516 | CNV | deletion | 24896259 |
| nsv1151540 | CNV | duplication | 26484159 |
| nsv6699 | CNV | deletion | 18451855 |
| nsv7434 | OTHER | inversion | 18451855 |
| nsv825069 | CNV | gain | 20364138 |
| nsv825070 | CNV | gain | 20364138 |
| nsv831711 | CNV | gain | 17160897 |
Residual Variation Intolerance Score:
48.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.74;
73.34% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CDK5RAP2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDK5RAP2 Gene
Disorders for CDK5RAP2 Gene
(10) MalaCards diseases for CDK5RAP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| microcephaly 3, primary, autosomal recessive |
|
|
| autosomal recessive primary microcephaly |
|
|
| primary microcephaly |
|
|
| microcephaly |
|
|
| microcephalic osteodysplastic primordial dwarfism, type ii |
|
|
Search CDK5RAP2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CK5P2_HUMAN- Microcephaly 3, primary, autosomal recessive (MCPH3) [MIM:604804]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269 PubMed:15793586}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for CDK5RAP2
No data available for Genatlas for CDK5RAP2 Gene
Publications for CDK5RAP2 Gene
- Cloning of three novel neuronal Cdk5 activator binding proteins. (PMID: 10721722) Ching Y.-P. … Wang J.H. (Gene 2000) 2 3 4 22 64
- Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. (PMID: 17764569) Hassan M.J. … Ahmad W. (BMC Med. Genet. 2007) 2 3 22 64
- Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion. (PMID: 18042621) Graser S. … Nigg E.A. (J. Cell Sci. 2007) 3 4 22 64
- A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. (PMID: 15793586) Bond J. … Woods C.G. (Nat. Genet. 2005) 3 4 22 64
- Degradation of Cep68 and PCNT cleavage mediate Cep215 removal from the PCM to allow centriole separation, disengagement and licensing. (PMID: 25503564) Pagan J.K. … Pagano M. (Nat. Cell Biol. 2015) 3 4 64
Products for CDK5RAP2 Gene
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