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 Microcephaly. Among its related pathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. 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 EB1/MAPRE1, may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Regulates centrosomal maturation by recruitment of the gamma-tubulin ring complex (gamma-TuRC) onto centrosomes (PubMed:26485573). In complex with PDE4DIP isoform 13/MMG8/SMYLE, MAPRE1 and AKAP9, contributes to microtubules nucleation and extension from the centrosome to the cell periphery (PubMed:29162697). Required for the recruitment of AKAP9 to centrosomes (PubMed:29162697). Plays a role in neurogenesis (By similarity).
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
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH09J120578 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE | 658.6 | +0.2 | 204 | 2.5 | FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B ZNF766 ZNF213 | CDK5RAP2 PIR42935 PSMD5 FBXW2 CNTRL ENSG00000270917 MEGF9 PIR33352 | |
| GH09J120536 | Promoter | 0.5 | EPDnew | 661 | +43.7 | 43678 | 0.1 | CDK5RAP2 PIR33352 PIR42935 | ||
| GH09J120729 | Enhancer | 1.6 | FANTOM5 Ensembl ENCODE dbSUPER | 9.6 | -150.6 | -150648 | 2.8 | PKNOX1 FOXA2 MLX ARID4B BRCA1 ETS1 YY1 ELK1 FOS RUNX3 | CUTALP TRAF1 CDK5RAP2 AHCYP2 B3GNT10 | |
| GH09J120531 | Enhancer | 0.9 | Ensembl ENCODE | 15.7 | +47.2 | 47239 | 2.8 | CTCF MXI1 KLF1 ESRRA MAX BRCA1 RAD21 ZKSCAN1 GATA3 POLR2A | CDK5RAP2 CUTALP PIR33352 PIR42935 | |
| GH09J120402 | Enhancer | 1.3 | Ensembl ENCODE dbSUPER | 7.9 | +176.4 | 176356 | 3 | PKNOX1 ATF1 ARNT FOS ATF7 DEK REST ZNF592 ATF4 MAFF | CDK5RAP2 CUTALP GC09P120416 LOC105376253 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CDK5RAP2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CDK5RAP2 gene promoter:
-
- SREBP-1c
- SREBP-1b
- SREBP-1a
- AP-4
- RP58
- aMEF-2
- MEF-2A
- AREB6
- GATA-2
- YY1
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)
- 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 Entrez Gene
- 9q33.2 by HGNC
- 9q33.2 by Ensembl
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. May form a complex with CDK5R1 and CDK5 (By similarity). Interacts with pericentrin/PCNT; the interaction is leading to centrosomal and Golgi localization of CDK5RAP2 and PCNT (PubMed:20466722). Interacts with AKAP9; the interaction targets CDK5RAP2 and AKAP9 to Golgi apparatus (PubMed:20466722). Interacts with MAPRE1; the interaction is direct and targets CDK5RAP2 and EB1/MAPRE1 to microtubule plus ends (PubMed:19553473). Interacts with TUBG1; the interaction is leading to the centrosomal localization of CDK5RAP2 and TUBG1 (PubMed:17959831). Interacts with TUBGCP3 (PubMed:17959831). Interacts with CALM1 (PubMed:20466722). Interacts with CDC20 (PubMed:19282672). 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). Forms a pericentrosomal complex with AKAP9, MAPRE1 and PDE4DIP isoform 13/MMG8/SMYLE; within this complex, MAPRE1 binding to CDK5RAP2 may be mediated by PDE4DIP (PubMed:29162697). Interacts with LGALS3BP; this interaction may connect the pericentrosomal complex to the gamma-tubulin ring complex (gamma-TuRC) to promote microtubule assembly and acetylation (PubMed:29162697).
- 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 Lys1320, posLast=12331233, posLast=12151215, posLast=11841184, posLast=797797, posLast=592592, posLast=495495, and Lys489
- Modification sites at PhosphoSitePlus
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 (AFLGC-CDK5RAP2)
- GeneTex CDK5RAP2 Antibody for CDK5RAP2
-
Boster Bio Antibodies 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: 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
- Blocks:
- InterPro:
- 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 EB1/MAPRE1, may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Regulates centrosomal maturation by recruitment of the gamma-tubulin ring complex (gamma-TuRC) onto centrosomes (PubMed:26485573). In complex with PDE4DIP isoform 13/MMG8/SMYLE, MAPRE1 and AKAP9, contributes to microtubules nucleation and extension from the centrosome to the cell periphery (PubMed:29162697). Required for the recruitment of AKAP9 to centrosomes (PubMed:29162697). Plays a role in neurogenesis (By similarity).
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:
-
- Decreased viability ratio
- Dynamic nuclei (hole, folded or small irregular)
- Decreased Hepatitis C virus replication
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
Animal Models for CDK5RAP2 Gene
- MGI Knock Outs for CDK5RAP2:
-
- 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
-
CRISPR Products
-
OriGene CRISPR knockouts for CDK5RAP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CDK5RAP2
- Browse OriGene Inhibitory RNA Products For CDK5RAP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDK5RAP2
- genomics-online: shRNA clones - Search results for 82 available CDK5RAP2 gene related products
- Overview of 82 available CDK5RAP2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CDK5RAP2
- Addgene plasmids for CDK5RAP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products 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
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. Cytoplasm, cytoskeleton. 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 in the presence of EB1/MAPRE1. Localization to centrosomes versus Golgi apparatus may be cell type-dependent. For instance, in SK-BR-3 and HEK293F cells, localizes to centrosomes but not to the Golgi apparatus (PubMed:29162697). {ECO:0000269 PubMed:19553473, ECO:0000269 PubMed:26485573, ECO:0000269 PubMed:29162697}.
| 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 | IEA,IDA | 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
GPS-Prot Interaction Network for CDK5RAP2
| 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 :
-
- ENST00000349780 6228 bps (uc004bkf.5)
- ENST00000360190 5985 bps (uc004bkg.5)
- ENST00000495406 635 bps (uc064vih.1)
- ENST00000474262 549 bps (uc064vii.1)
- ENST00000473282 5956 bps (uc064vij.1)
Unigene Clusters for CDK5RAP2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CDK5RAP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CDK5RAP2
- Browse OriGene Inhibitory RNA Products For CDK5RAP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CDK5RAP2
- genomics-online: shRNA clones - Search results for 82 available CDK5RAP2 gene related products
- Overview of 82 available CDK5RAP2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CDK5RAP2
- Addgene plasmids for CDK5RAP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products 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: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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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, 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
Gene Expression Assay 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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CDK5RAP2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cdk5rap2 16 34 33 |
|
||
| cow (Bos Taurus) |
Mammalia | CDK5RAP2 34 33 |
|
OneToOne | |
| 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 34 33 |
|
OneToOne | |
| 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)
Evolution for CDK5RAP2 Gene
- ENSEMBL:
- Gene Tree for CDK5RAP2 (if available)
- TreeFam:
- Gene Tree for CDK5RAP2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CDK5RAP2: view image
Paralogs for CDK5RAP2 Gene
(4) SIMAP similar genes for CDK5RAP2 Gene using alignment to 11 proteins:
- CK5P2_HUMAN
- A6H8X1_HUMAN
- B1AMJ5_HUMAN
- B7ZLE9_HUMAN
- B9EG74_HUMAN
- C9K0C9_HUMAN
- F8WBJ0_HUMAN
- F8WCI3_HUMAN
- F8WF55_HUMAN
- Q05CZ3_HUMAN
- Q5JTU8_HUMAN
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 |
|---|---|---|---|
| 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)
Additional Variant Information for CDK5RAP2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDK5RAP2 Gene
Disorders for CDK5RAP2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| microcephaly 3, primary, autosomal recessive |
|
|
| microcephaly |
|
|
| microcephalic osteodysplastic primordial dwarfism, type ii |
|
|
| functional diarrhea |
|
|
| autosomal recessive primary microcephaly |
|
|
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
- 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
- Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion. (PMID: 18042621) Graser S … Nigg EA (Journal of cell science 2007) 3 4 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
- EB1-binding-myomegalin protein complex promotes centrosomal microtubules functions. (PMID: 29162697) Bouguenina H … Badache A (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 4 58
Products for CDK5RAP2 Gene
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- genomics-online: cdna clones - Search results for 82 available CDK5RAP2 gene related products
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- Boster Bio Antibodies 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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- (125) NCBI Bookshelf
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- (128) ViGene Biosciences
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- (133) ENCODE
- (134) ProSci
- (135) Horizon
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- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
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- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
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- (166) miR2Disease
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- (169) Biorbyt