CKAP2L (cytoskeleton associated protein 2 like)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
150468
Gene name Gene Name - the full gene name approved by the HGNC.
Cytoskeleton associated protein 2 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CKAP2L
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q14.1
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
SNP ID Visualize variation Clinical significance Consequence
rs35593767 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, intron variant, 5 prime UTR variant, non coding transcript variant
rs548949031 A>G Pathogenic Initiator codon variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs727502802 ->T Pathogenic Intron variant, coding sequence variant, frameshift variant
rs727502803 ->AA Pathogenic Intron variant, frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs727502804 T>- Pathogenic Intron variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(190)
miRTarBase ID miRNA Experiments Reference
MIRT016097 hsa-miR-769-5p Sequencing 20371350
MIRT016509 hsa-miR-193b-3p Microarray 20304954
MIRT024751 hsa-miR-215-5p Microarray 19074876
MIRT026525 hsa-miR-192-5p Microarray 19074876
MIRT048215 hsa-miR-196a-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0000922 Component Spindle pole IEA
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA
GO:0005813 Component Centrosome IDA 21399614
GO:0005829 Component Cytosol IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616174 26877 ENSG00000169607
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8IYA6
Protein name Cytoskeleton-associated protein 2-like (Radial fiber and mitotic spindle protein) (Radmis)
Protein function Microtubule-associated protein required for mitotic spindle formation and cell-cycle progression in neural progenitor cells.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15297 CKAP2_C 423 → 660 Cytoskeleton-associated protein 2 C-terminus Family
PF15297 CKAP2_C 673 → 734 Cytoskeleton-associated protein 2 C-terminus Family
Sequence 
MVGPGPTAAAAVEERQRKLQEYLAAKGKLKSQNTKPYLKSKNNCQNQPPSKSTIRPKNDV
TNHVVLPVKPKRSISIKLQPRPPNTAGSQKPKLEPPKLLGKRLTSECVSSNPYSKPSSKS
FQQCEAGSSTTGELSRKPVGSLNIEQLKTTKQQLTDQGNGKCIDFMNNIHVENESLDNFL
KETNKENLLDILTEPERKPDPKLYTRSKPKTDSYNQTKNSLVPKQALGKSSVNSAVLKDR
VNKQFVGETQSRTFPVKSQQLSRGADLARPGVKPSRTVPSHFIRTLSKVQSSKKPVVKNI
KDIKVNRSQYERPNETKIRSYPVTEQRVKHTKPRTYPSLLQGEYNNRHPNIKQDQKSSQV
CIPQTSCVLQKSKAISQRPNLTVGRFNSAIPSTPSIRPNGTSGNKHNNNGFQQKAQTLDS
KLKKAVPQNHFLNKTAPKTQADVTTVNGTQTNPNIKKKATAEDRRKQLEEWQKSKGKTYK
RPPMELKTKRKVIKEMNISFWKSIEKEEEEKKAQLELSSKINNTLTECLNLIEGGVPSNE
ILNILSSIPEAEKFAKFWICKAKLLASKGTFDVIGLYEEAIKNGATPIQELRKVVLNILQ
DSNRTTEGITSDSLVAETSITSVEELAKKMESVKSCLSPKEREQVTATPRIAKAEQHNYP
GIKLQIGPIPRINGMPEVQDMKFITPVRRSSRIERAVSRYPEMLQEHDLVVASLDELLEV
EETKCFIFRRNEALPVTLGFQTPES
Sequence length 745
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Filippi Syndrome filippi syndrome rs755184431, rs778989224, rs727502802, rs548949031, rs727502803, rs727502804, rs1553442237, rs727502805 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Endometriosis Endometriosis N/A N/A GWAS
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adie Syndrome Associate 38303513
Breast Neoplasms Associate 31758680
Carcinoma Renal Cell Associate 34699322
Colorectal Neoplasms Associate 34308980
Filippi syndrome Associate 34921061
Glioma Associate 33375517
Glioma Stimulate 34631884
Hepatolenticular Degeneration Associate 38303513
Intellectual Disability Associate 34921061
Lung Neoplasms Associate 33375517