Human Gene CKAP2L (uc002tie.2) Description and Page Index
  Description: Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.
RefSeq Summary (NM_152515): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:113,495,444-113,522,254 Size: 26,811 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr2:113,496,400-113,522,175 Size: 25,776 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:113,495,444-113,522,254)mRNA (may differ from genome)Protein (745 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
  ID: CKP2L_HUMAN
DESCRIPTION: RecName: Full=Cytoskeleton-associated protein 2-like;
SIMILARITY: Belongs to the CKAP2 family.
SEQUENCE CAUTION: Sequence=AAX93053.1; Type=Erroneous gene model prediction;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): CKAP2L
CDC HuGE Published Literature: CKAP2L
Positive Disease Associations: Endometriosis , Memory, Short-Term
Related Studies:
  1. Endometriosis
    Sosuke Adachi et al. Journal of human genetics 2010, Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population., Journal of human genetics. [PubMed 20844546]
  2. Memory, Short-Term
    Joseph L McClay et al. Neuropsychopharmacology 2011, Genome-wide pharmacogenomic study of neurocognition as an indicator of antipsychotic treatment response in schizophrenia., Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. [PubMed 21107309]

-  MalaCards Disease Associations
  MalaCards Gene Search: CKAP2L
Diseases sorted by gene-association score: filippi syndrome* (1288), chromosome 16p13.3 deletion syndrome, proximal (6), aggressive periodontitis (6), intellectual disability (4), microcephaly (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.74 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 19.54 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -25.8079-0.327 Picture PostScript Text
3' UTR -263.10956-0.275 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026167 - CKAP2-like
IPR026165 - CKAP2_fam

Pfam Domains:
PF15297 - Cytoskeleton-associated protein 2 C-terminus

ModBase Predicted Comparative 3D Structure on Q8IYA6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0000922 spindle pole
GO:0005737 cytoplasm
GO:0005813 centrosome
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0072686 mitotic spindle


-  Descriptions from all associated GenBank mRNAs
  AL832036 - Homo sapiens mRNA; cDNA DKFZp313A1610 (from clone DKFZp313A1610).
AK097948 - Homo sapiens cDNA FLJ40629 fis, clone THYMU2014297.
LF383734 - JP 2014500723-A/191237: Polycomb-Associated Non-Coding RNAs.
BC036217 - Homo sapiens cytoskeleton associated protein 2-like, mRNA (cDNA clone MGC:39683 IMAGE:5270339), complete cds.
AK292530 - Homo sapiens cDNA FLJ76452 complete cds.
AK302875 - Homo sapiens cDNA FLJ55314 complete cds, weakly similar to Cytoskeleton-associated protein 2.
KJ900275 - Synthetic construct Homo sapiens clone ccsbBroadEn_09669 CKAP2L gene, encodes complete protein.
MA619311 - JP 2018138019-A/191237: Polycomb-Associated Non-Coding RNAs.
JD234468 - Sequence 215492 from Patent EP1572962.
JD489902 - Sequence 470926 from Patent EP1572962.
JD280779 - Sequence 261803 from Patent EP1572962.
JD295523 - Sequence 276547 from Patent EP1572962.
JD375700 - Sequence 356724 from Patent EP1572962.
LF349458 - JP 2014500723-A/156961: Polycomb-Associated Non-Coding RNAs.
JD349184 - Sequence 330208 from Patent EP1572962.
JD101606 - Sequence 82630 from Patent EP1572962.
JD432006 - Sequence 413030 from Patent EP1572962.
JD223186 - Sequence 204210 from Patent EP1572962.
LF349459 - JP 2014500723-A/156962: Polycomb-Associated Non-Coding RNAs.
JD182816 - Sequence 163840 from Patent EP1572962.
JD402933 - Sequence 383957 from Patent EP1572962.
JD199044 - Sequence 180068 from Patent EP1572962.
JD323384 - Sequence 304408 from Patent EP1572962.
JD516492 - Sequence 497516 from Patent EP1572962.
JD509244 - Sequence 490268 from Patent EP1572962.
JD082494 - Sequence 63518 from Patent EP1572962.
JD110008 - Sequence 91032 from Patent EP1572962.
JD168938 - Sequence 149962 from Patent EP1572962.
JD296719 - Sequence 277743 from Patent EP1572962.
MA585035 - JP 2018138019-A/156961: Polycomb-Associated Non-Coding RNAs.
MA585036 - JP 2018138019-A/156962: Polycomb-Associated Non-Coding RNAs.
AK316241 - Homo sapiens cDNA, FLJ79140 partial cds.
LF349465 - JP 2014500723-A/156968: Polycomb-Associated Non-Coding RNAs.
LF349466 - JP 2014500723-A/156969: Polycomb-Associated Non-Coding RNAs.
LF349467 - JP 2014500723-A/156970: Polycomb-Associated Non-Coding RNAs.
JD246148 - Sequence 227172 from Patent EP1572962.
JD324789 - Sequence 305813 from Patent EP1572962.
LF349468 - JP 2014500723-A/156971: Polycomb-Associated Non-Coding RNAs.
JD084564 - Sequence 65588 from Patent EP1572962.
LF349469 - JP 2014500723-A/156972: Polycomb-Associated Non-Coding RNAs.
LF349471 - JP 2014500723-A/156974: Polycomb-Associated Non-Coding RNAs.
JD474300 - Sequence 455324 from Patent EP1572962.
MA585042 - JP 2018138019-A/156968: Polycomb-Associated Non-Coding RNAs.
MA585043 - JP 2018138019-A/156969: Polycomb-Associated Non-Coding RNAs.
MA585044 - JP 2018138019-A/156970: Polycomb-Associated Non-Coding RNAs.
MA585045 - JP 2018138019-A/156971: Polycomb-Associated Non-Coding RNAs.
MA585046 - JP 2018138019-A/156972: Polycomb-Associated Non-Coding RNAs.
MA585048 - JP 2018138019-A/156974: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K915, CKP2L_HUMAN, NM_152515, NP_689728, Q53QF8, Q53RS8, Q8IYA6, Q8N1J8
UCSC ID: uc002tie.2
RefSeq Accession: NM_152515
Protein: Q8IYA6 (aka CKP2L_HUMAN)
CCDS: CCDS2100.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_152515.3
exon count: 9CDS single in 3' UTR: no RNA size: 3273
ORF size: 2238CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4625.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.