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 Organelle biogenesis and maintenance and Regulation of PLK1 Activity at G2/M Transition. Gene Ontology (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).
Additional gene information for CDK5RAP2 Gene
- Monarch Initiative
- Search for CDK5RAP2 at DataMed
- Search for CDK5RAP2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDK5RAP2 Gene
Genomics for CDK5RAP2 Gene
GeneHancer (GH) Regulatory Elements for CDK5RAP2 Gene
Promoters and enhancers for CDK5RAP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around CDK5RAP2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for CDK5RAP2 Gene
Genomic Locations for CDK5RAP2 Gene
- chr9:120,388,869-120,580,170
- (GRCh38/hg38)
- Size:
- 191,302 bases
- Orientation:
- Minus strand
- chr9:123,151,147-123,342,448
- (GRCh37/hg19)
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 Lys489, posLast=495495, Lys592, posLast=797797, posLast=11841184, Lys1215, posLast=12331233, and posLast=13201320
Other Protein References for CDK5RAP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CDK5RAP2
- Novus Biologicals Antibodies for CDK5RAP2
-
Abcam antibodies for CDK5RAP2
- Invitrogen Antibodies for CDK5RAP2
- Search GeneTex for 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: Search results for 1 available CDK5RAP2 Elisa Kits ranked by validation data
- Compare Top CDK5RAP2 Elisa Kits
-
Recommended
No data available for DME Specific Peptides for CDK5RAP2 Gene
Domains & Families for CDK5RAP2 Gene
Gene Families for CDK5RAP2 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
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 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).
Phenotypes From GWAS Catalog for CDK5RAP2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 17959831 |
| GO:0005516 | calmodulin binding | IDA,IEA | 20466722 |
| 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
- genomics-online: gRNA clones - Search results for 82 available CDK5RAP2 gene related products
- Overview of 82 available CDK5RAP2 gene related products
- Applied Biological Materials CRISPR for CDK5RAP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
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
- genomics-online: shRNA clones - Search results for 82 available CDK5RAP2 gene related products
- Overview of 82 available CDK5RAP2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CDK5RAP2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- 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
- Addgene plasmids for CDK5RAP2
- Applied Biological Materials Clones for CDK5RAP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
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 |
- Centrosome (4)
- Cell Junctions (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
Selected Interacting proteins:
ENSP00000343818
Q96SN8-CK5P2_HUMAN
for CDK5RAP2 Gene via
STRING
UniProtKB
IID
| 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
- genomics-online: gRNA clones - Search results for 82 available CDK5RAP2 gene related products
- Overview of 82 available CDK5RAP2 gene related products
- Applied Biological Materials CRISPR for CDK5RAP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
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
- genomics-online: shRNA clones - Search results for 82 available CDK5RAP2 gene related products
- Overview of 82 available CDK5RAP2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for CDK5RAP2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- 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
- Addgene plasmids for CDK5RAP2
- Applied Biological Materials Clones for CDK5RAP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | |||||||||||||||||||||||||||||||||||||||||||||
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| 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
Regions:
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
- genomics-online: primer clones - Search results for 82 available CDK5RAP2 gene related products
- Overview of 82 available CDK5RAP2 gene related products
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 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | CDK5RAP2 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Cdk5rap2 33 16 34 |
|
||
| cow (Bos Taurus) |
Mammalia | CDK5RAP2 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cdk5rap2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CDK5RAP2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CDK5RAP2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CDK5RAP2 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.19841 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CDK5RAP2 34 |
|
OneToOne | |
| wufi74c05 33 |
|
||||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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 | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1001269537 | uncertain-significance, Primary Microcephaly, Recessive | 120,409,234(-) | G/T | coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant | |
| rs1019301497 | uncertain-significance, Primary Microcephaly, Recessive | 120,580,132(-) | G/A | 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant | |
| rs10984919 | benign, Primary autosomal recessive microcephaly 3 | 120,453,650(-) | C/T | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs112600265 | uncertain-significance, likely-benign, Primary Microcephaly, Recessive, not specified | 120,453,594(-) | G/C | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs112982005 | uncertain-significance, Primary Microcephaly, Recessive | 120,453,616(-) | G/A | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv831711 | CNV | gain | 17160897 |
| nsv825070 | CNV | gain | 20364138 |
| nsv825069 | CNV | gain | 20364138 |
| nsv7434 | OTHER | inversion | 18451855 |
| nsv6699 | CNV | deletion | 18451855 |
| nsv1151540 | CNV | duplication | 26484159 |
| nsv1128516 | CNV | deletion | 24896259 |
| nsv1077179 | CNV | deletion | 25765185 |
| esv7137 | CNV | loss | 19470904 |
| esv3621652 | CNV | loss | 21293372 |
| esv3545405 | CNV | deletion | 23714750 |
| esv3545404 | CNV | deletion | 23714750 |
| esv33143 | CNV | loss | 17666407 |
| esv2761557 | CNV | loss | 21179565 |
| esv2738996 | CNV | deletion | 23290073 |
| esv2663480 | CNV | deletion | 23128226 |
| esv2647244 | CNV | loss | 19546169 |
| esv2487988 | CNV | deletion | 19546169 |
| esv1966921 | CNV | deletion | 18987734 |
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)
Additional Variant Information for CDK5RAP2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDK5RAP2 Gene
Disorders for CDK5RAP2 Gene
(8) MalaCards diseases for CDK5RAP2 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| microcephaly 3, primary, autosomal recessive |
|
|
| autosomal recessive primary microcephaly |
|
|
| microcephaly |
|
|
| microcephalic osteodysplastic primordial dwarfism, type ii |
|
|
| functional diarrhea |
|
|
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.
Additional Disease Information for CDK5RAP2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CDK5RAP2 Gene
Publications for CDK5RAP2 Gene
- Cloning of three novel neuronal Cdk5 activator binding proteins. (PMID: 10721722) Ching YP … Wang JH (Gene 2000) 2 3 4 22 58
- Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion. (PMID: 18042621) Graser S … Nigg EA (Journal of cell science 2007) 3 4 22 58
- Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly. (PMID: 17764569) Hassan MJ … Ahmad W (BMC medical genetics 2007) 2 3 22 58
- A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. (PMID: 15793586) Bond J … Woods CG (Nature genetics 2005) 3 4 22 58
- CENP-32 is required to maintain centrosomal dominance in bipolar spindle assembly. (PMID: 25657325) Ohta S … Earnshaw WC (Molecular biology of the cell 2015) 3 4 58
Products for CDK5RAP2 Gene
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- Mammalian expression: PiggyBac
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- Addgene plasmids for CDK5RAP2
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Sources for CDK5RAP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
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- (114) diseasecard
- (115) NIH Rare Diseases
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- (120) Genetics Home Reference
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- (125) NCBI Bookshelf
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- (133) ENCODE
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- (135) Horizon
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- (148) abm
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- (150) Human Protein Atlas
- (151) GWAS Catalog
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- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew