Seroatlas · Human Serome Atlas

CDK5RAP2

CDK5 regulatory subunit-associated protein 2

Also known as: C48, CEP215, CK5P2_HUMAN, FLJ10867, MCPH3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96SN8
Gene: CDK5RAP2
Ensembl: ENSG00000136861
Chromosome: 9
Canonical length: 1893 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Cell Junctions,Centrosome,Basal body,Cytosol,Equatorial segment,Mid piece,Principal piece
Quaternary structure: Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

1893 residues, UniProt reviewed canonical sequence.

>Q96SN8|CDK5RAP2
     1  MMDLVLEEDV TVPGTLSGCS GLVPSVPDDL DGINPNAGLG NGLLPNVSEE TVSPTRARNM
    61  KDFENQITEL KKENFNLKLR IYFLEERMQQ EFHGPTEHIY KTNIELKVEV ESLKRELQER
   121  EQLLIKASKA VESLAEAGGS EIQRVKEDAR KKVQQVEDLL TKRILLLEKD VTAAQAELEK
   181  AFAGTETEKA LRLRLESKLS EMKKMHEGDL AMALVLDEKD RLIEELKLSL KSKEALIQCL
   241  KEEKSQMACP DENVSSGELR GLCAAPREEK ERETEAAQME HQKERNSFEE RIQALEEDLR
   301  EKEREIATEK KNSLKRDKAI QGLTMALKSK EKKVEELNSE IEKLSAAFAK AREALQKAQT
   361  QEFQGSEDYE TALSGKEALS AALRSQNLTK STENHRLRRS IKKITQELSD LQQERERLEK
   421  DLEEAHREKS KGDCTIRDLR NEVEKLRNEV NEREKAMENR YKSLLSESNK KLHNQEQVIK
   481  HLTESTNQKD VLLQKFNEKD LEVIQQNCYL MAAEDLELRS EGLITEKCSS QQPPGSKTIF
   541  SKEKKQSSDY EELIQVLKKE QDIYTHLVKS LQESDSINNL QAELNKIFAL RKQLEQDVLS
   601  YQNLRKTLEE QISEIRRREE ESFSLYSDQT SYLSICLEEN NRFQVEHFSQ EELKKKVSDL
   661  IQLVKELYTD NQHLKKTIFD LSCMGFQGNG FPDRLASTEQ TELLASKEDE DTIKIGEDDE
   721  INFLSDQHLQ QSNEIMKDLS KGGCKNGYLR HTESKISDCD GAHAPGCLEE GAFINLLAPL
   781  FNEKATLLLE SRPDLLKVVR ELLLGQLFLT EQEVSGEHLD GKTEKTPKQK GELVHFVQTN
   841  SFSKPHDELK LSCEAQLVKA GEVPKVGLKD ASVQTVATEG DLLRFKHEAT REAWEEKPIN
   901  TALSAEHRPE NLHGVPGWQA ALLSLPGITN REAKKSRLPI LIKPSRSLGN MYRLPATQEV
   961  VTQLQSQILE LQGELKEFKT CNKQLHQKLI LAEAVMEGRP TPDKTLLNAQ PPVGAAYQDS
  1021  PGEQKGIKTT SSVWRDKEMD SDQQRSYEID SEICPPDDLA SLPSCKENPE DVLSPTSVAT
  1081  YLSSKSQPSA KVSVMGTDQS ESINTSNETE YLKQKIHDLE TELEGYQNFI FQLQKHSQCS
  1141  EAIITVLCGT EGAQDGLSKP KNGSDGEEMT FSSLHQVRYV KHVKILGPLA PEMIDSRVLE
  1201  NLKQQLEEQE YKLQKEQNLN MQLFSEIHNL QNKFRDLSPP RYDSLVQSQA RELSLQRQQI
  1261  KDGHGICVIS RQHMNTMIKA FEELLQASDV DYCVAEGFQE QLNQCAELLE KLEKLFLNGK
  1321  SVGVEMNTQN ELMERIEEDN LTYQHLLPES PEPSASHALS DYETSEKSFF SRDQKQDNET
  1381  EKTSVMVNSF SQDLLMEHIQ EIRTLRKRLE ESIKTNEKLR KQLERQGSEF VQGSTSIFAS
  1441  GSELHSSLTS EIHFLRKQNQ ALNAMLIKGS RDKQKENDKL RESLSRKTVS LEHLQREYAS
  1501  VKEENERLQK EGSEKERHNQ QLIQEVRCSG QELSRVQEEV KLRQQLLSQN DKLLQSLRVE
  1561  LKAYEKLDEE HRRLREASGE GWKGQDPFRD LHSLLMEIQA LRLQLERSIE TSSTLQSRLK
  1621  EQLARGAEKA QEGALTLAVQ AVSIPEVPLQ PDKHDGDKYP MESDNSFDLF DSSQAVTPKS
  1681  VSETPPLSGN DTDSLSCDSG SSATSTPCVS RLVTGHHLWA SKNGRHVLGL IEDYEALLKQ
  1741  ISQGQRLLAE MDIQTQEAPS STSQELGTKG PHPAPLSKFV SSVSTAKLTL EEAYRRLKLL
  1801  WRVSLPEDGQ CPLHCEQIGE MKAEVTKLHK KLFEQEKKLQ NTMKLLQLSK RQEKVIFDQL
  1861  VVTHKILRKA RGNLELRPGG AHPGTCSPSR PGS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CDK5RAP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.55
Highest tissue expression: 25 nTPM

Expression across tissuesHPA

Tissue

tongue: 25 nTPM
skeletal muscle: 24 nTPM
testis: 15 nTPM
thymus: 15 nTPM
choroid plexus: 12 nTPM
heart muscle: 12 nTPM

Single-cell type

neutrophils: 345 nCPM
thymic myoid cells: 212 nCPM
choroid plexus epithelial cells: 194 nCPM
erythrocyte progenitors: 194 nCPM
myonuclei: 189 nCPM
oligodendrocytes: 180 nCPM

Immune cell

NK-cell: 2 nTPM
memory CD8 T-cell: 1.7 nTPM
MAIT T-cell: 1.4 nTPM
non-classical monocyte: 1.4 nTPM
memory B-cell: 1.1 nTPM
total PBMC: 1.1 nTPM

Brain region

choroid plexus: 15 nTPM
basal ganglia: 9.8 nTPM
thalamus: 9.7 nTPM
midbrain: 9.3 nTPM
pons: 9.1 nTPM
medulla oblongata: 8.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CDK5RAP2.

Disease | AllUniProt

Conditions CDK5RAP2 is implicated in, by any mechanism.

Microcephaly 3, primary, autosomal recessive (MCPH3) MIM:604804

Disease | GeneticClinVar

82 pathogenic / likely-pathogenic of 1,106 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Microcephaly 3, primary, autosomal recessive
CDK5RAP2-related disorder
Inborn genetic diseases
Microcephaly
Cervical cancer

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.66
gnomAD pLI: 0
gnomAD missense Z: -0.37
DepMap mean gene effect: -0.1
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Centrosomin, N-terminal motif 1
CDK5 regulatory subunit-associated protein 2/Myomegalin, coiled coil
Centrosomin N-terminal motif 1
CDK5 regulatory subunit-associated protein 2-like, coiled coil
CDK5 regulatory subunit-associated protein 2

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CDK5RAP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CDK5RAP2 as an antibody target. Whether an autoantibody or antibody against CDK5RAP2 could matter depends on whether native CDK5RAP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CDK5RAP2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CDK5RAP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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