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

    Gene ID: 55755, updated on 10-Dec-2024

    Summary

    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; AllianceGenome:HGNC:18672
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CDK5RAP2 in Genome Data Viewer
    Location:
    9q33.2
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (120388875..120580167, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (132583189..132774493, complement)
    RS_2024_09 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 MPRA-validated peak7326 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr9:123142787-123142995 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:123152383-123152883 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:123164680-123165648 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:123174184-123174980 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:123251855-123252356 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:123252357-123252856 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:123342117-123342679 Neighboring gene multiple EGF like domains 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20222 Neighboring gene NFE2L2 motif-containing MPRA enhancer 171 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:123455017-123455827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20223 Neighboring gene adenosylhomocysteinase pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Microcephaly 3, primary, autosomal recessive
    MedGen: C1858108 OMIM: 604804 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    EBI GWAS Catalog
    Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1633, DKFZp686B1070, DKFZp686D1070

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables gamma-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables gamma-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 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 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
     
    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
     
    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
     
    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
     
    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
     
    involved_in negative regulation of centriole replication ISS
    Inferred from Sequence or Structural Similarity
    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 DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of microtubule polymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mitotic cell cycle spindle assembly checkpoint IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 
    part_of gamma-tubulin ring complex IDA
    Inferred from Direct Assay
    more info
    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
     
    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
     
    is_active_in pericentriolar material IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in pericentriolar material IDA
    Inferred from Direct Assay
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001011649.3NP_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/TrEMBL
      A6H8X1
      Related
      ENSP00000353317.4, ENST00000360190.8
      Conserved Domains (3) summary
      cl14654
      Location:289497
      V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains
      COG0419
      Location:105667
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam07989
      Location:61129
      Cnn_1N; Centrosomin N-terminal motif 1
    2. NM_001272039.2NP_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/TrEMBL
      A0A0A0MRG9, Q7Z3M0
      Related
      ENSP00000354065.4, ENST00000360822.8
      Conserved Domains (2) summary
      cl14654
      Location:289497
      V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains
      pfam07989
      Location:61129
      Cnn_1N; Centrosomin N-terminal motif 1
    3. NM_001410992.1NP_001397921.1  CDK5 regulatory subunit-associated protein 2 isoform d

      Status: REVIEWED

      Source sequence(s)
      AL138836, AL353736, AL391870, AL590642
      Consensus CDS
      CCDS94468.1
      UniProtKB/TrEMBL
      A0A8I5KRU7, A0A8I5KXG0
      Related
      ENSP00000510289.1, ENST00000687633.1
    4. NM_001410993.1NP_001397922.1  CDK5 regulatory subunit-associated protein 2 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL138836, AL353736, AL391870, AL590642
      Consensus CDS
      CCDS94470.1
      UniProtKB/TrEMBL
      A0A8I5KRU7
      Related
      ENSP00000400395.2, ENST00000416449.6
    5. NM_001410994.1NP_001397923.1  CDK5 regulatory subunit-associated protein 2 isoform f

      Status: REVIEWED

      Source sequence(s)
      AL138836, AL353736, AL391870, AL590642
      Consensus CDS
      CCDS94469.1
      UniProtKB/TrEMBL
      A0A0C4ZLW1, A0A8I5QKL1
      Related
      ENSP00000508692.1, ENST00000687279.1
    6. NM_018249.6NP_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
      Q5JV18, Q7Z3L4, Q7Z3U1, Q7Z7I6, Q96SN8, Q9BSW0, Q9H6J6, Q9HCD9, Q9NV90, Q9UIW9
      UniProtKB/TrEMBL
      A0A0C4ZLW1
      Related
      ENSP00000343818.4, ENST00000349780.9
      Conserved Domains (3) summary
      cl14654
      Location:289497
      V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains
      COG0419
      Location:105667
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      pfam07989
      Location:61129
      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
      Related
      ENST00000685866.1
    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
      Related
      ENST00000689688.1
    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
      Related
      ENST00000693386.1
    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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047423589.1XP_047279545.1  CDK5 regulatory subunit-associated protein 2 isoform X3

      UniProtKB/TrEMBL
      A6H8X1
    2. XM_047423587.1XP_047279543.1  CDK5 regulatory subunit-associated protein 2 isoform X1

      UniProtKB/TrEMBL
      A6H8X1
    3. XM_017014923.2XP_016870412.1  CDK5 regulatory subunit-associated protein 2 isoform X6

      UniProtKB/TrEMBL
      Q7Z3M0
      Related
      ENST00000688923.1
    4. XM_006717185.2XP_006717248.1  CDK5 regulatory subunit-associated protein 2 isoform X4

      UniProtKB/TrEMBL
      Q7Z3M0
      Conserved Domains (2) summary
      cl14654
      Location:289497
      V_Alix_like; Protein-interacting V-domain of mammalian Alix and related domains
      pfam07989
      Location:61129
      Cnn_1N; Centrosomin N-terminal motif 1
    5. XM_047423588.1XP_047279544.1  CDK5 regulatory subunit-associated protein 2 isoform X2

      UniProtKB/TrEMBL
      A6H8X1
    6. XM_047423590.1XP_047279546.1  CDK5 regulatory subunit-associated protein 2 isoform X5

      UniProtKB/TrEMBL
      Q5CZA0
    7. XM_047423591.1XP_047279547.1  CDK5 regulatory subunit-associated protein 2 isoform X7

      UniProtKB/TrEMBL
      A0A8I5KPG9
      Related
      ENSP00000508792.1, ENST00000690814.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      132583189..132774493 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363276.1XP_054219251.1  CDK5 regulatory subunit-associated protein 2 isoform X3

      UniProtKB/TrEMBL
      A6H8X1
    2. XM_054363274.1XP_054219249.1  CDK5 regulatory subunit-associated protein 2 isoform X1

      UniProtKB/TrEMBL
      A6H8X1
    3. XM_054363279.1XP_054219254.1  CDK5 regulatory subunit-associated protein 2 isoform X6

      UniProtKB/TrEMBL
      Q7Z3M0
    4. XM_054363277.1XP_054219252.1  CDK5 regulatory subunit-associated protein 2 isoform X4

      UniProtKB/TrEMBL
      Q7Z3M0
    5. XM_054363275.1XP_054219250.1  CDK5 regulatory subunit-associated protein 2 isoform X2

      UniProtKB/TrEMBL
      A6H8X1
    6. XM_054363278.1XP_054219253.1  CDK5 regulatory subunit-associated protein 2 isoform X5

      UniProtKB/TrEMBL
      Q5CZA0
    7. XM_054363280.1XP_054219255.1  CDK5 regulatory subunit-associated protein 2 isoform X7

      UniProtKB/TrEMBL
      A0A8I5KPG9