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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]
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 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.
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 | 2.2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 608.5 | +0.4 | 374 | 2.8 | RNF2 SP1 HNRNPL CREB1 PRDM10 REST ZNF629 SIX5 IKZF1 KDM1A | CDK5RAP2 lnc-CDK5RAP2-1 piR-49936 PSMD5 FBXW2 ENSG00000270917 MEGF9 lnc-MEGF9-1 | |
GH09J120536 | Promoter | 0.3 | EPDnew | 611 | +43.7 | 43678 | 0.1 | CDK5RAP2 lnc-MEGF9-1 piR-40353 | ||
GH09J120538 | Enhancer | 1 | Ensembl ENCODE | 17.2 | +41.2 | 41169 | 2 | GATAD2A REST TFE3 RCOR2 RXRB IRF2 SP1 GABPA KMT2B MNT | lnc-MEGF9-1 CDK5RAP2 piR-40353 | |
GH09J120531 | Enhancer | 0.9 | Ensembl ENCODE | 15.7 | +47.1 | 47111 | 3.1 | CTCF RAD21 BRCA1 NR3C1 CEBPB CHD2 RCOR1 ESRRA E2F6 KLF4 | CDK5RAP2 CUTALP lnc-MEGF9-1 piR-40353 | |
GH09J120729 | Enhancer | 1.3 | FANTOM5 ENCODE dbSUPER | 9.6 | -150.7 | -150655 | 2.8 | GATAD2A CTCF TEAD4 TFE3 RCOR2 FOXA1 GABPA PKNOX1 RXRB IRF2 | CUTALP TRAF1 CDK5RAP2 HSALNG0074121 AHCYP2 MEGF9 FBXW2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA, IBA | 19282672 |
GO:0005515 | protein binding | IPI | 17959831 |
GO:0005516 | calmodulin binding | IEA,IDA | 20466722 |
GO:0008017 | microtubule binding | IDA | 14654843 |
GO:0015631 | tubulin binding | IPI | 17959831 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000242 | pericentriolar material | IDA | 17959831 |
GO:0000922 | spindle pole | IDA | 17959831 |
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 17959831 |
GO:0005794 | Golgi apparatus | IEA,IDA | 20466722 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of PLK1 Activity at G2/M Transition |
.50
|
|
2 | Cell Cycle, Mitotic |
.83
|
|
3 | Organelle biogenesis and maintenance |
.56
|
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 | IEA,IDA | 17959831 |
GO:0001578 | microtubule bundle formation | IDA | 19553473 |
GO:0007059 | chromosome segregation | IMP | 19282672 |
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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CDK5RAP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CDK5RAP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cdk5rap2 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CDK5RAP2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cdk5rap2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CDK5RAP2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CDK5RAP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CDK5RAP2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.19841 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | CDK5RAP2 31 |
|
OneToOne | |
wufi74c05 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
668859 | Benign: not provided | 120,580,331(-) | G/A | ||
668860 | Benign: not provided | 120,550,541(-) | C/T | INTRON_VARIANT | |
668862 | Benign: not provided | 120,443,305(-) | G/T | INTRON_VARIANT | |
668863 | Benign: not provided | 120,440,238(-) | T/C | INTRON_VARIANT | |
668864 | Benign: not provided | 120,401,198(-) | C/T | INTRON_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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
microcephaly 3, primary, autosomal recessive |
|
|
microcephaly |
|
|
primary autosomal recessive microcephaly |
|
|
primary microcephaly |
|
|
microcephaly 7, primary, autosomal recessive |
|
|