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CDK5RAP2 CDK5 regulatory subunit associated protein 2 [ Homo sapiens (human) ]

Gene ID: 55755, updated on 25-Nov-2021

Summary

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Official Symbol
CDK5RAP2provided by HGNC
Official Full Name
CDK5 regulatory subunit associated protein 2provided by HGNC
Primary source
HGNC:HGNC:18672
See related
Ensembl:ENSG00000136861 MIM:608201
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C48; MCPH3; Cep215
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 15.8), bone marrow (RPKM 9.3) and 25 other tissues See more
Orthologs
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Genomic context

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See CDK5RAP2 in Genome Data Viewer
Location:
9q33.2
Exon count:
39
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (120388875..120580167, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (123151153..123342445, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene microRNA 147a Neighboring gene uncharacterized LOC105376253 Neighboring gene multiple EGF like domains 9 Neighboring gene NFE2L2 motif-containing MPRA enhancer 171 Neighboring gene adenosylhomocysteinase pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Cep215 is essential for morphological differentiation of astrocytes. Kang D, et al. Sci Rep, 2020 Oct 12. PMID 33046744, Free PMC Article
  2. CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. Nasser H, et al. J Med Genet, 2020 Jun. PMID 32015000
  3. CDK5RAP2 gene and tau pathophysiology in late-onset sporadic Alzheimer's disease. Miron J, et al. Alzheimers Dement, 2018 Jun. PMID 29360470
  4. A new association between CDK5RAP2 microcephaly and congenital cataracts. Alfares A, et al. Ann Hum Genet, 2018 May. PMID 29271474
  5. A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family. Abdullah U, et al. Eur J Med Genet, 2017 Dec. PMID 28778786

See all (100) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Centromeric chromatin integrity is compromised by loss of Cdk5rap2, a transcriptional activator of CENP-A.
    Title: Centromeric chromatin integrity is compromised by loss of Cdk5rap2, a transcriptional activator of CENP-A.
  2. CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
    Title: <i>CDK5RAP2</i> primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.
  3. Centriole-independent mitotic spindle assembly relies on the PCNT-CDK5RAP2 pericentriolar matrix.
    Title: Centriole-independent mitotic spindle assembly relies on the PCNT-CDK5RAP2 pericentriolar matrix.
  4. Cep215 is essential for morphological differentiation of astrocytes.
    Title: Cep215 is essential for morphological differentiation of astrocytes.
  5. The rs10984186 risk and rs4837766 protective polymorphic variants of theCDK5RAP2gene might act as potent genetic modifiers for AD risk and/or conversion by modulating the expres-sion of this gene.
    Title: CDK5RAP2 gene and tau pathophysiology in late-onset sporadic Alzheimer's disease.
  6. new clinical manifestation of CDK5RAP2 microcephaly and congenital cataracts in a consanguineous Saudi family
    Title: A new association between CDK5RAP2 microcephaly and congenital cataracts.
  7. ASPM protein is a spindle pole-focusing factor that functions redundantly with CDK5RAP2.
    Title: Human microcephaly ASPM protein is a spindle pole-focusing factor that functions redundantly with CDK5RAP2.
  8. A frameshift mutation in CDK5RAP2 gene is associated with primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.
    Title: A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.
  9. Using homozygosity mapping complemented with whole-exome, gene panel or Sanger sequencing, we identified 12 novel mutations in 3 known MCPH-associated genes - 9 in ASPM, 2 in MCPH1 and 1 in CDK5RAP2. The 2 MCPH1 mutations were homozygous microdeletions of 164,250 and 577,594 bp, respectively, for which we were able to map the exact breakpoints
    Title: Genetic heterogeneity in Pakistani microcephaly families revisited.
  10. Data suggest that CDK5RAP2 and CEP170 both interact with microtubule nucleation-promoting region of AKAP350A; CEP68 interacts with distal C-terminal region of AKAP350A; AKAP350A spans the bridge between centrioles. (CDK5RAP2 = CDK5 regulatory subunit associated protein 2; CEP170 = centrosomal protein 170kDa; AKAP350A = A kinase (PRKA) anchor protein (yotiao) 9; CEP68 = centrosomal protein 68kDa)
    Title: The C-terminal region of A-kinase anchor protein 350 (AKAP350A) enables formation of microtubule-nucleation centers and interacts with pericentriolar proteins.
Submit: New GeneRIF Correction See all GeneRIFs (36)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Genome-wide association of lipid-lowering response to statins in combined study populations.
GeneReviews: Not available
Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.
GeneReviews: Not available
Primary autosomal recessive microcephaly 3
MedGen: C1858108 OMIM: 604804 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1633, DKFZp686B1070, DKFZp686D1070

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables calmodulin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables gamma-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables gamma-tubulin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables protein kinase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
enables transcription cis-regulatory region binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables transcription cis-regulatory region binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables tubulin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in brain development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in brain development NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in centriole replication IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in centriole replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in centrosome cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in chromosome segregation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in chromosome segregation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in establishment of mitotic spindle orientation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in establishment of mitotic spindle orientation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in microtubule bundle formation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in microtubule bundle formation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in microtubule cytoskeleton organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in microtubule organizing center organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of centriole replication IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in negative regulation of centriole replication ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of microtubule polymerization IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in positive regulation of microtubule polymerization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of mitotic cell cycle spindle assembly checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in regulation of mitotic cell cycle spindle assembly checkpoint IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of neuron differentiation NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell junction IDA
Inferred from Direct Assay
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoskeleton NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in microtubule plus-end IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in microtubule plus-end IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in mitotic spindle pole IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
is_active_in pericentriolar material IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in pericentriolar material IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in spindle pole IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
CDK5 regulatory subunit-associated protein 2
Names
CDK5 activator-binding protein C48
centrosomal protein 215 kDa
centrosomin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008999.1 RefSeqGene

    Range
    4993..196285
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001011649.3 → NP_001011649.1  CDK5 regulatory subunit-associated protein 2 isoform b

    See identical proteins and their annotated locations for NP_001011649.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. The encoded isoform (b) is shorter compared to isoform a.
    Source sequence(s)
    AF448860, BC136275, BX495012, BX537759, BX953750
    Consensus CDS
    CCDS43871.1
    UniProtKB/Swiss-Prot
    Q96SN8
    UniProtKB/TrEMBL
    B9EG74
    Related
    ENSP00000353317.4, ENST00000360190.8
    Conserved Domains (3) summary
    cl14654
    Location:289 → 497
    V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains
    COG0419
    Location:105 → 667
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    pfam07989
    Location:61 → 129
    Cnn_1N; Centrosomin N-terminal motif 1

  2. NM_001272039.2 → NP_001258968.1  CDK5 regulatory subunit-associated protein 2 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site and lacks three in-frame exons in the coding region, compared to variant 1. The encoded isoform (c) is shorter compared to isoform a.
    Source sequence(s)
    AF448860, BC136275, BX495012, BX537708, BX953708
    Consensus CDS
    CCDS75888.1
    UniProtKB/Swiss-Prot
    Q96SN8
    UniProtKB/TrEMBL
    A0A0A0MRG9, B9EG74, Q7Z3M0
    Related
    ENSP00000354065.4, ENST00000360822.7
    Conserved Domains (2) summary
    cl14654
    Location:289 → 497
    V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains
    pfam07989
    Location:61 → 129
    Cnn_1N; Centrosomin N-terminal motif 1

  3. NM_018249.6 → NP_060719.4  CDK5 regulatory subunit-associated protein 2 isoform a

    See identical proteins and their annotated locations for NP_060719.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AF448860, AK122913, BX495012
    Consensus CDS
    CCDS6823.1
    UniProtKB/Swiss-Prot
    Q96SN8
    UniProtKB/TrEMBL
    B3KVI2
    Related
    ENSP00000343818.4, ENST00000349780.9
    Conserved Domains (3) summary
    cl14654
    Location:289 → 497
    V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains
    COG0419
    Location:105 → 667
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    pfam07989
    Location:61 → 129
    Cnn_1N; Centrosomin N-terminal motif 1

RNA

  1. NR_073554.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses three alternate splice sites in internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF448860, BC019577, BC143732, BX495012

  2. NR_073555.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF448860, BC019577, BC143734, BQ428975, BX495012

  3. NR_073556.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses two alternate splice sites in internal exons and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF448860, BC143755, BX471011, BX495012
    Related
    ENST00000473282.6

  4. NR_073557.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF448860, BC019577, BC143764, BX495012

  5. NR_073558.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses two alternate splice sites in internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF448860, BC143760, BX471011, BX495012
    Related
    ENST00000480112.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    120388875..120580167 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014921.1 → XP_016870410.1  CDK5 regulatory subunit-associated protein 2 isoform X3

  2. XM_011518860.1 → XP_011517162.1  CDK5 regulatory subunit-associated protein 2 isoform X1

    Conserved Domains (2) summary
    cl14654
    Location:289 → 497
    V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains
    pfam07989
    Location:61 → 129
    Cnn_1N; Centrosomin N-terminal motif 1

  3. XM_017014923.1 → XP_016870412.1  CDK5 regulatory subunit-associated protein 2 isoform X6

  4. XM_006717185.1 → XP_006717248.1  CDK5 regulatory subunit-associated protein 2 isoform X4

    Conserved Domains (2) summary
    cl14654
    Location:289 → 497
    V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains
    pfam07989
    Location:61 → 129
    Cnn_1N; Centrosomin N-terminal motif 1

  5. XM_006717182.1 → XP_006717245.1  CDK5 regulatory subunit-associated protein 2 isoform X2

    UniProtKB/Swiss-Prot
    Q96SN8
    Conserved Domains (3) summary
    cl14654
    Location:289 → 497
    V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains
    COG0419
    Location:105 → 667
    SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
    pfam07989
    Location:61 → 129
    Cnn_1N; Centrosomin N-terminal motif 1

  6. XM_017014922.1 → XP_016870411.1  CDK5 regulatory subunit-associated protein 2 isoform X5

  7. XM_017014924.1 → XP_016870413.1  CDK5 regulatory subunit-associated protein 2 isoform X7

    Related
    ENSP00000400395.1, ENST00000416449.5

RNA

  1. XR_001746351.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96SN8.5 GenPept UniProtKB/Swiss-Prot:Q96SN8

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