Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CKAP2L Gene

Aliases for CKAP2L Gene

  • Cytoskeleton Associated Protein 2 Like 2 3 5
  • Radial Fiber And Mitotic Spindle Protein 3 4
  • Radmis 3 4
  • Cytoskeleton-Associated Protein 2-Like 3
  • Radial Fiber And Mitotic Spindle 2

External Ids for CKAP2L Gene

Previous GeneCards Identifiers for CKAP2L Gene

  • GC02M113211
  • GC02M113497
  • GC02M105951

Summaries for CKAP2L Gene

Entrez Gene Summary for CKAP2L 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]

GeneCards Summary for CKAP2L Gene

CKAP2L (Cytoskeleton Associated Protein 2 Like) is a Protein Coding gene. Diseases associated with CKAP2L include Filippi Syndrome and Intellectual Disability. An important paralog of this gene is CKAP2.

UniProtKB/Swiss-Prot for CKAP2L Gene

  • Microtubule-associated protein required for mitotic spindle formation and cell-cycle progression in neural progenitor cells.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CKAP2L Gene

Genomics for CKAP2L Gene

Regulatory Elements for CKAP2L Gene

Enhancers for CKAP2L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F112792 1.7 FANTOM5 Ensembl ENCODE 12 -30.1 -30091 4.4 HDGF PKNOX1 ATF1 ARNT CREB3L1 ELK1 CBX5 JUNB NCOA1 REST IL1B IL1RN IL1A CKAP2L IL36G IL36B FLJ42351 IL36RN GC02M112788
GH02F112811 1.6 FANTOM5 Ensembl ENCODE 11.3 -48.6 -48629 4.3 PKNOX1 ATF1 FOS JUNB TBX21 SMARCA4 ETV4 MYNN NBN CTCF IL1B IL1RN IL1A IL37 IL36B IL36G CKAP2L IL36RN GC02M112788
GH02F112875 1.6 FANTOM5 Ensembl ENCODE 11.2 -114.3 -114340 7.2 PKNOX1 RAD21 RARA GATA2 ETV6 FOS CREM CEBPB JUNB NR2F2 IL1B IL1RN IL1A IL36B IL37 IL36G CKAP2L IL36RN PIR40727 XIAPP3
GH02F112867 1.6 FANTOM5 Ensembl ENCODE 11 -104.9 -104940 4.4 PKNOX1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 ZNF143 ZNF207 FOS MXD4 IL1B IL1A IL1RN IL37 CKAP2L ANAPC1 IL36G IL36B PSD4 PIR40727
GH02F112802 1.5 FANTOM5 Ensembl ENCODE 11.7 -39.9 -39938 3.2 PKNOX1 ATF1 ARID4B FOS JUNB MXD4 MIER2 TBX21 PPARG KAT8 IL1B CKAP2L IL37 FLJ42351 SLC20A1 IL1A IL36G IL1RN GC02M112788
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CKAP2L on UCSC Golden Path with GeneCards custom track

Promoters for CKAP2L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000015308 177 2200 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF207 ZNF143

Genomic Location for CKAP2L Gene

Chromosome:
2
Start:
112,736,349 bp from pter
End:
112,764,677 bp from pter
Size:
28,329 bases
Orientation:
Minus strand

Genomic View for CKAP2L Gene

Genes around CKAP2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CKAP2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CKAP2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CKAP2L Gene

Proteins for CKAP2L Gene

  • Protein details for CKAP2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYA6-CKP2L_HUMAN
    Recommended name:
    Cytoskeleton-associated protein 2-like
    Protein Accession:
    Q8IYA6
    Secondary Accessions:
    • A8K915
    • B4DZE3
    • B7ZAC6
    • F5H0M5
    • Q53QF8
    • Q53RS8
    • Q8N1J8

    Protein attributes for CKAP2L Gene

    Size:
    745 amino acids
    Molecular mass:
    83587 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAX93053.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CKAP2L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CKAP2L Gene

Post-translational modifications for CKAP2L Gene

  • Ubiquitinated by the anaphase promoting complex/cyclosome (APC/C).
  • Ubiquitination at Lys 257 and Lys 582
  • Modification sites at PhosphoSitePlus

Other Protein References for CKAP2L Gene

No data available for DME Specific Peptides for CKAP2L Gene

Domains & Families for CKAP2L Gene

Protein Domains for CKAP2L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CKAP2L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IYA6

UniProtKB/Swiss-Prot:

CKP2L_HUMAN :
  • The KEN box is required for the association with the APC/C-Cdh1 complex, ubiquitination and degradation.
  • Belongs to the CKAP2 family.
Domain:
  • The KEN box is required for the association with the APC/C-Cdh1 complex, ubiquitination and degradation.
Family:
  • Belongs to the CKAP2 family.
genes like me logo Genes that share domains with CKAP2L: view

No data available for Gene Families for CKAP2L Gene

Function for CKAP2L Gene

Molecular function for CKAP2L Gene

UniProtKB/Swiss-Prot Function:
Microtubule-associated protein required for mitotic spindle formation and cell-cycle progression in neural progenitor cells.
UniProtKB/Swiss-Prot Induction:
Expression is cell-cycle dependent. Undetectable in interphase and prophase, strong expression at the spindle pole throughout metaphase to telophase.

Phenotypes for CKAP2L Gene

genes like me logo Genes that share phenotypes with CKAP2L: view

Human Phenotype Ontology for CKAP2L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CKAP2L Gene

Localization for CKAP2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for CKAP2L Gene

Cytoplasm, cytoskeleton, spindle pole. Note=Uniformly distributed along each microtubule bundle of spindles in addition to centrioles during mitosis, expression promptly diminishes at interphase. {ECO:0000269 PubMed:25439729}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CKAP2L gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4
plasma membrane 3
mitochondrion 2
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CKAP2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CKAP2L: view

Pathways & Interactions for CKAP2L Gene

SuperPathways for CKAP2L Gene

No Data Available

Interacting Proteins for CKAP2L Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000305204%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000305204 Q8IYA6-CKP2L_HUMAN for CKAP2L Gene via STRING IID

Gene Ontology (GO) - Biological Process for CKAP2L Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CKAP2L Gene

Transcripts for CKAP2L Gene

Unigene Clusters for CKAP2L Gene

Cytoskeleton associated protein 2-like:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CKAP2L Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2: - -
SP3: -
SP4: - -
SP5:

Relevant External Links for CKAP2L Gene

GeneLoc Exon Structure for
CKAP2L
ECgene alternative splicing isoforms for
CKAP2L

Expression for CKAP2L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CKAP2L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CKAP2L Gene

This gene is overexpressed in Testis (x5.6) and Esophagus - Mucosa (x4.2).

Protein differential expression in normal tissues from HIPED for CKAP2L Gene

This gene is overexpressed in Spleen (57.2) and Testis (11.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CKAP2L Gene



Protein tissue co-expression partners for CKAP2L Gene

NURSA nuclear receptor signaling pathways regulating expression of CKAP2L Gene:

CKAP2L

SOURCE GeneReport for Unigene cluster for CKAP2L Gene:

Hs.434250
genes like me logo Genes that share expression patterns with CKAP2L: view

No data available for mRNA Expression by UniProt/SwissProt for CKAP2L Gene

Orthologs for CKAP2L Gene

This gene was present in the common ancestor of chordates.

Orthologs for CKAP2L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CKAP2L 34 35
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia CKAP2L 34 35
  • 84.46 (n)
cow
(Bos Taurus)
Mammalia CKAP2L 34 35
  • 82.65 (n)
mouse
(Mus musculus)
Mammalia Ckap2l 34 16 35
  • 75.85 (n)
rat
(Rattus norvegicus)
Mammalia Ckap2l 34
  • 75.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CKAP2L 35
  • 29 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CKAP2L 35
  • 14 (a)
OneToOne
Species where no ortholog for CKAP2L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CKAP2L Gene

ENSEMBL:
Gene Tree for CKAP2L (if available)
TreeFam:
Gene Tree for CKAP2L (if available)

Paralogs for CKAP2L Gene

Paralogs for CKAP2L Gene

Pseudogenes.org Pseudogenes for CKAP2L Gene

genes like me logo Genes that share paralogs with CKAP2L: view

Variants for CKAP2L Gene

Sequence variations from dbSNP and Humsavar for CKAP2L Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs548949031 Pathogenic 112,764,597(+) CCACC(A/G)TGACT nc-transcript-variant, reference, missense, utr-variant-5-prime
rs727502802 Pathogenic 112,756,799(-) CGATA(-/A)TCTTA intron-variant, reference, frameshift-variant
rs727502803 Pathogenic 112,762,528(-) CCAAG(-/TT)GGAAA intron-variant, nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs727502804 Pathogenic 112,756,620(-) CACAA(-/A)GCAGG intron-variant, reference, frameshift-variant
rs727502805 Pathogenic 112,756,816(-) AAACA(-/AA)GAGAA intron-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for CKAP2L Gene

Variant ID Type Subtype PubMed ID
nsv473621 CNV novel sequence insertion 20440878
nsv526301 CNV loss 19592680

Variation tolerance for CKAP2L Gene

Residual Variation Intolerance Score: 90.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.33; 90.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CKAP2L Gene

Human Gene Mutation Database (HGMD)
CKAP2L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CKAP2L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CKAP2L Gene

Disorders for CKAP2L Gene

MalaCards: The human disease database

(3) MalaCards diseases for CKAP2L Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
filippi syndrome
  • syndactyly type i with microcephaly and mental retardation
intellectual disability
rubinstein-taybi syndrome
  • rubinstein-taybi syndrome 1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CKP2L_HUMAN
  • Filippi syndrome (FLPIS) [MIM:272440]: A rare disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. {ECO:0000269 PubMed:25439729}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CKAP2L

Genetic Association Database (GAD)
CKAP2L
Human Genome Epidemiology (HuGE) Navigator
CKAP2L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CKAP2L
genes like me logo Genes that share disorders with CKAP2L: view

No data available for Genatlas for CKAP2L Gene

Publications for CKAP2L Gene

  1. Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome. (PMID: 25439729) Hussain M.S. … NA1rnberg P. (Am. J. Hum. Genet. 2014) 3 4 64
  2. Radmis, a novel mitotic spindle protein that functions in cell division of neural progenitors. (PMID: 24260314) Yumoto T. … Sakakibara S. (PLoS ONE 2013) 2 3 64
  3. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. (PMID: 20468071) Dick D.M. … Bierut L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64
  4. Polymorphisms in the interleukin-1 (IL1) gene cluster are not associated with aggressive periodontitis in a large Caucasian population. (PMID: 18723088) Fiebig A. … GrAPssner-Schreiber B. (Genomics 2008) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for CKAP2L Gene

Sources for CKAP2L Gene

Content
Loading form....