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Aliases for CDK5RAP2 Gene

Aliases for CDK5RAP2 Gene

  • CDK5 Regulatory Subunit Associated Protein 2 2 3 5
  • CDK5 Activator-Binding Protein C48 3 4
  • Centrosomin 2 3
  • CDK5 Regulatory Subunit-Associated Protein 2 3
  • Microcephaly, Primary Autosomal Recessive 3 2
  • Centrosome-Associated Protein 215 4
  • Centrosomal Protein 215 KDa 3
  • KIAA1633 4
  • Cep215 3
  • CEP215 4
  • MCPH3 3
  • C48 3

External Ids for CDK5RAP2 Gene

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

Entrez Gene Summary 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).

Gene Wiki entry for CDK5RAP2 Gene

Additional gene information for CDK5RAP2 Gene

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 dump

GeneHancers around CDK5RAP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CDK5RAP2 gene promoter:

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:
CDK5RAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDK5RAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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};

    Alternative splice isoforms for CDK5RAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry 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

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:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CDK5RAP2: view

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with CDK5RAP2: view
genes like me logo Genes that share phenotypes with CDK5RAP2: view

Human Phenotype Ontology for CDK5RAP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDK5RAP2 Gene

MGI Knock Outs for CDK5RAP2:

Animal Model Products

miRNA for CDK5RAP2 Gene

miRTarBase miRNAs that target CDK5RAP2

Clone 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. 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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDK5RAP2 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 5
golgi apparatus 5
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (4)
  • Cell Junctions (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDK5RAP2 Gene

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
genes like me logo Genes that share ontologies with CDK5RAP2: view

Pathways & Interactions for CDK5RAP2 Gene

genes like me logo Genes that share pathways with CDK5RAP2: view

Gene Ontology (GO) - Biological Process 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
genes like me logo Genes that share ontologies with CDK5RAP2: view

No data available for SIGNOR curated interactions for CDK5RAP2 Gene

Drugs & Compounds for CDK5RAP2 Gene

No Compound Related Data Available

Transcripts for CDK5RAP2 Gene

Unigene Clusters for CDK5RAP2 Gene

CDK5 regulatory subunit associated protein 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDK5RAP2 Gene

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:

Relevant External Links for CDK5RAP2 Gene

GeneLoc Exon Structure for
CDK5RAP2
ECgene alternative splicing isoforms for
CDK5RAP2

Expression for CDK5RAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDK5RAP2 Gene

mRNA differential expression in normal tissues according to GTEx for CDK5RAP2 Gene

This gene is overexpressed in Whole Blood (x5.2).

Protein differential expression in normal tissues from HIPED for CDK5RAP2 Gene

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



Protein tissue co-expression partners for CDK5RAP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CDK5RAP2 Gene:

CDK5RAP2

SOURCE GeneReport for Unigene cluster for CDK5RAP2 Gene:

Hs.269560

mRNA 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
genes like me logo Genes that share expression patterns with CDK5RAP2: view

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.

Orthologs for CDK5RAP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDK5RAP2 34 33
  • 99.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CDK5RAP2 34 33
  • 81.61 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cdk5rap2 16 34 33
  • 79.15 (n)
cow
(Bos Taurus)
Mammalia CDK5RAP2 34 33
  • 79.13 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cdk5rap2 33
  • 76.46 (n)
oppossum
(Monodelphis domestica)
Mammalia CDK5RAP2 34
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDK5RAP2 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDK5RAP2 34 33
  • 59.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 42 (a)
OneToMany
-- 34
  • 38 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.19841 33
zebrafish
(Danio rerio)
Actinopterygii CDK5RAP2 34
  • 17 (a)
OneToOne
wufi74c05 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 18 (a)
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

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
genes like me logo Genes that share paralogs with CDK5RAP2: view

Variants for CDK5RAP2 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for CDK5RAP2 Gene

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

Variation tolerance for CDK5RAP2 Gene

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

Human Gene Mutation Database (HGMD)
CDK5RAP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDK5RAP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDK5RAP2 Gene

Disorders for CDK5RAP2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CDK5RAP2 Gene - From: HGMD, OMIM, ClinVar, GTR, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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
genes like me logo Genes that share disorders with CDK5RAP2: view

No data available for Genatlas for CDK5RAP2 Gene

Publications for CDK5RAP2 Gene

  1. Cloning of three novel neuronal Cdk5 activator binding proteins. (PMID: 10721722) Ching YP … Wang JH (Gene 2000) 2 3 4 22 58
  2. Cep68 and Cep215 (Cdk5rap2) are required for centrosome cohesion. (PMID: 18042621) Graser S … Nigg EA (Journal of cell science 2007) 3 4 22 58
  3. 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
  4. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. (PMID: 15793586) Bond J … Woods CG (Nature genetics 2005) 3 4 22 58
  5. 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

Sources for CDK5RAP2 Gene

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