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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 Chromosome 16P13.3 Deletion Syndrome, Proximal. 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.

Additional gene information for CKAP2L Gene

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

Genomics for CKAP2L Gene

GeneHancer (GH) Regulatory Elements for CKAP2L Gene

Promoters and enhancers for CKAP2L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I112762 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.5 535 3.3 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CKAP2L ANAPC1 POLR1B RGPD8 ENSG00000227359 PSD4 IL1A NT5DC4 FLJ42351 GC02P113658
GH02I112792 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12 -30.1 -30090 4.4 HDGF PKNOX1 ARNT ZNF766 CBX5 E2F8 JUNB REST ZNF592 MEF2D IL1B IL1RN ANAPC1 IL1A CKAP2L CBWD2 RGPD8 IL36G ZC3H6 TMEM87B
GH02I112826 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 10.9 -67.6 -67595 10.9 PKNOX1 MLX ARNT ARID4B FEZF1 DMAP1 ZNF48 YY1 TCF12 ZNF766 IL1B IL1A CKAP2L IL37 POLR1B FLJ42351 GC02M112788
GH02I112875 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.2 -114.3 -114340 7.2 FOXA2 IRF4 TCF12 FOS RUNX3 JUNB ZNF592 NFIL3 SMARCA4 ZNF184 IL1B IL1RN IL1A IL36B IL37 IL36G CKAP2L IL36RN PIR40727 XIAPP3
GH02I112802 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.8 -39.9 -39937 3.2 PKNOX1 FOXA2 ARID4B ETS1 TCF12 ATF7 FOS RUNX3 JUNB MXD4 IL1B CKAP2L IL37 SLC20A1 FLJ42351 IL1A IL36G IL1RN GC02M112788 GC02P113658
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CKAP2L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CKAP2L gene promoter:

Genomic Locations for CKAP2L Gene

Genomic Locations for CKAP2L Gene
chr2:112,736,349-112,764,677
(GRCh38/hg38)
Size:
28,329 bases
Orientation:
Minus strand
chr2:113,493,930-113,522,254
(GRCh37/hg19)

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

Other Protein References for CKAP2L Gene

No data available for DME Specific Peptides for CKAP2L Gene

Domains & Families for CKAP2L Gene

Gene Families for CKAP2L Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

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 From GWAS Catalog for CKAP2L Gene

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

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitotic spindle (4)
  • Cytosol (2)
See all subcellular structures

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:0005829 cytosol IDA --
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

Selected Interacting proteins: Q8IYA6-CKP2L_HUMAN for CKAP2L Gene via IID

Gene Ontology (GO) - Biological Process for CKAP2L Gene

None

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

Drugs & Compounds for CKAP2L Gene

No Compound Related Data Available

Transcripts for CKAP2L Gene

Unigene Clusters for CKAP2L Gene

Cytoskeleton associated protein 2-like:
Representative Sequences:

Clone 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 CGAP 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

Phenotype-based relationships between genes and organs from Gene ORGANizer for CKAP2L Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • testicle
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CKAP2L: view

No data available for mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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 33 34
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia CKAP2L 33 34
  • 84.46 (n)
cow
(Bos Taurus)
Mammalia CKAP2L 33 34
  • 82.65 (n)
mouse
(Mus musculus)
Mammalia Ckap2l 33 16 34
  • 75.85 (n)
rat
(Rattus norvegicus)
Mammalia Ckap2l 33
  • 75.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CKAP2L 34
  • 29 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii CKAP2L 34
  • 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 Variation AA Info Type
rs548949031 pathogenic, Filippi syndrome 112,764,597(-) A/G 5_prime_UTR_variant, initiator_codon_variant, missense_variant, non_coding_transcript_variant
rs727502802 pathogenic, Filippi syndrome 112,756,800(-) T/TT coding_sequence_variant, frameshift, intron_variant
rs727502803 pathogenic, Filippi syndrome 112,762,529(-) /AA 5_prime_UTR_variant, coding_sequence_variant, frameshift, intron_variant, non_coding_transcript_variant
rs727502804 pathogenic, Filippi syndrome 112,756,620(-) TTT/TT coding_sequence_variant, frameshift, intron_variant
rs727502805 pathogenic, Filippi syndrome 112,756,816(-) TTT/T coding_sequence_variant, frameshift, intron_variant

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

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

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
filippi syndrome
  • flpis
chromosome 16p13.3 deletion syndrome, proximal
  • rubinstein-taybi deletion syndrome
aggressive periodontitis
  • periodontitis, juvenile
microcephaly
  • microcephalus
- 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.

Additional Disease Information for CKAP2L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 MS … Nürnberg P (American journal of human genetics 2014) 3 4 58
  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 58
  3. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. (PMID: 20468071) Dick DM … Bierut L (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 44 58
  4. Polymorphisms in the interleukin-1 (IL1) gene cluster are not associated with aggressive periodontitis in a large Caucasian population. (PMID: 18723088) Fiebig A … Grössner-Schreiber B (Genomics 2008) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for CKAP2L Gene

Sources for CKAP2L Gene

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