CKAP2L
Cytoskeleton-associated protein 2-like
Also known as: CKP2L_HUMAN, FLJ40629, radmis
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IYA6
- Gene
- CKAP2L
- Ensembl
- ENSG00000169607
- Chromosome
- 2
- Canonical length
- 745 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Microtubules,Mitotic spindle,Primary cilium,Cytosol
OverviewNCBI Gene
The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Canonical amino-acid sequenceUniProt
745 residues, UniProt reviewed canonical sequence.
>Q8IYA6|CKAP2L
1 MVGPGPTAAA AVEERQRKLQ EYLAAKGKLK SQNTKPYLKS KNNCQNQPPS KSTIRPKNDV
61 TNHVVLPVKP KRSISIKLQP RPPNTAGSQK PKLEPPKLLG KRLTSECVSS NPYSKPSSKS
121 FQQCEAGSST TGELSRKPVG SLNIEQLKTT KQQLTDQGNG KCIDFMNNIH VENESLDNFL
181 KETNKENLLD ILTEPERKPD PKLYTRSKPK TDSYNQTKNS LVPKQALGKS SVNSAVLKDR
241 VNKQFVGETQ SRTFPVKSQQ LSRGADLARP GVKPSRTVPS HFIRTLSKVQ SSKKPVVKNI
301 KDIKVNRSQY ERPNETKIRS YPVTEQRVKH TKPRTYPSLL QGEYNNRHPN IKQDQKSSQV
361 CIPQTSCVLQ KSKAISQRPN LTVGRFNSAI PSTPSIRPNG TSGNKHNNNG FQQKAQTLDS
421 KLKKAVPQNH FLNKTAPKTQ ADVTTVNGTQ TNPNIKKKAT AEDRRKQLEE WQKSKGKTYK
481 RPPMELKTKR KVIKEMNISF WKSIEKEEEE KKAQLELSSK INNTLTECLN LIEGGVPSNE
541 ILNILSSIPE AEKFAKFWIC KAKLLASKGT FDVIGLYEEA IKNGATPIQE LRKVVLNILQ
601 DSNRTTEGIT SDSLVAETSI TSVEELAKKM ESVKSCLSPK EREQVTATPR IAKAEQHNYP
661 GIKLQIGPIP RINGMPEVQD MKFITPVRRS SRIERAVSRY PEMLQEHDLV VASLDELLEV
721 EETKCFIFRR NEALPVTLGF QTPESLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CKAP2L 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)
- 0.64
- Highest tissue expression
- 12 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 12 nTPM
- thymus: 11 nTPM
- tonsil: 4.9 nTPM
- lymph node: 4.7 nTPM
- testis: 4.2 nTPM
- appendix: 2.5 nTPM
Single-cell type
- megakaryocyte progenitors: 130 nCPM
- monocyte progenitors: 66 nCPM
- megakaryocytes: 62 nCPM
- erythrocyte progenitors: 56 nCPM
- differentiating spermatogonia: 44 nCPM
- undifferentiated spermatogonia: 44 nCPM
Immune cell
- T-reg: 0.2 nTPM
- memory CD4 T-cell: 0.1 nTPM
- memory CD8 T-cell: 0.1 nTPM
- neutrophil: 0.1 nTPM
- NK-cell: 0.1 nTPM
- basophil: 0 nTPM
Brain region
- cerebellum: 2.7 nTPM
- cerebral cortex: 2.7 nTPM
- hypothalamus: 2.5 nTPM
- basal ganglia: 2.4 nTPM
- hippocampal formation: 2.3 nTPM
- white matter: 2.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CKAP2L.
Disease | AllUniProt
Conditions CKAP2L is implicated in, by any mechanism.
- Filippi syndrome (FLPIS) MIM:272440
Disease | GeneticClinVar
23 pathogenic / likely-pathogenic of 270 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Filippi syndrome
- Intellectual disability
- Hypogonadism
- CKAP2L-related disorder
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)
- 0.63
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.09
- DepMap mean gene effect
- -0.16
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Cytoskeleton-associated protein 2, C-terminal
- Cytoskeleton-associated protein 2 C-terminus
- Cytoskeleton-associated protein 2-like
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CKAP2L as an antibody target. Whether an autoantibody or antibody against CKAP2L could matter depends on whether native CKAP2L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CKAP2L 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 CKAP2L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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