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    CKAP2L cytoskeleton associated protein 2 like [ Homo sapiens (human) ]

    Gene ID: 150468, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CKAP2Lprovided by HGNC
    Official Full Name
    cytoskeleton associated protein 2 likeprovided by HGNC
    Primary source
    HGNC:HGNC:26877
    See related
    Ensembl:ENSG00000169607 MIM:616174; AllianceGenome:HGNC:26877
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Biased expression in bone marrow (RPKM 6.1), testis (RPKM 4.2) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CKAP2L in Genome Data Viewer
    Location:
    2q14.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (112736349..112764609, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (113163005..113191260, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (113493926..113522186, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11875 Neighboring gene Sharpr-MPRA regulatory region 7980 Neighboring gene solute carrier family 20 member 1 Neighboring gene uncharacterized LOC102724955 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:113448691-113448877 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:113449610-113450809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113451927-113452426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16397 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113483672-113484391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113484392-113485110 Neighboring gene 5'-nucleotidase domain containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16398 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11876 Neighboring gene Sharpr-MPRA regulatory region 10892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16401 Neighboring gene interleukin 1 alpha Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:113551633-113552832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16403 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:113563077-113563577 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:113569190-113570389 Neighboring gene uncharacterized LOC124907871 Neighboring gene Sharpr-MPRA regulatory region 10273

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Pan-cancer analysis reveals the prognostic and immunotherapeutic value of cytoskeleton-associated protein 2-like. Yi B, et al. Sci Rep, 2023 May 24. PMID 37225919, Free PMC Article
    2. CKAP2L Promotes Non-Small Cell Lung Cancer Progression through Regulation of Transcription Elongation. Monteverde T, et al. Cancer Res, 2021 Apr 1. PMID 33472893
    3. Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus. Karakaya T, et al. Am J Med Genet A, 2021 Jul. PMID 33913579
    4. CKAP2L, as an Independent Risk Factor, Closely Related to the Prognosis of Glioma. Zhu L, et al. Biomed Res Int, 2021. PMID 34631884, Free PMC Article
    5. Novel variants identified in CKAP2L in two siblings with Filippi syndrome. Patrick RJ, et al. Cold Spring Harb Mol Case Stud, 2022 Feb. PMID 34921061, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. IGF2BP2 promotes ovarian cancer growth and metastasis by upregulating CKAP2L protein expression in an m[6] A-dependent manner.
      Title: IGF2BP2 promotes ovarian cancer growth and metastasis by upregulating CKAP2L protein expression in an m(6) A-dependent manner.
    2. Pan-cancer analysis reveals the prognostic and immunotherapeutic value of cytoskeleton-associated protein 2-like.
      Title: Pan-cancer analysis reveals the prognostic and immunotherapeutic value of cytoskeleton-associated protein 2-like.
    3. CKAP2L, a crucial target of miR-326, promotes prostate cancer progression.
      Title: CKAP2L, a crucial target of miR-326, promotes prostate cancer progression.
    4. Novel variants identified in CKAP2L in two siblings with Filippi syndrome.
      Title: Novel variants identified in CKAP2L in two siblings with Filippi syndrome.
    5. CKAP2L, transcriptionally inhibited by FOXP3, promotes breast carcinogenesis through the AKT/mTOR pathway.
      Title: CKAP2L, transcriptionally inhibited by FOXP3, promotes breast carcinogenesis through the AKT/mTOR pathway.
    6. CKAP2L, as an Independent Risk Factor, Closely Related to the Prognosis of Glioma.
      Title: CKAP2L, as an Independent Risk Factor, Closely Related to the Prognosis of Glioma.
    7. Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.
      Title: Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.
    8. CKAP2L Promotes Non-Small Cell Lung Cancer Progression through Regulation of Transcription Elongation.
      Title: CKAP2L Promotes Non-Small Cell Lung Cancer Progression through Regulation of Transcription Elongation.
    9. Development and validation of hub genes for lymph node metastasis in patients with prostate cancer.
      Title: Development and validation of hub genes for lymph node metastasis in patients with prostate cancer.
    10. CKAP2L Knockdown Exerts Antitumor Effects by Increasing miR-4496 in Glioblastoma Cell Lines.
      Title: CKAP2L Knockdown Exerts Antitumor Effects by Increasing miR-4496 in Glioblastoma Cell Lines.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Filippi syndrome
    MedGen: C0795940 OMIM: 272440 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40629, MGC39683

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in mitotic spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in spindle pole IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    cytoskeleton-associated protein 2-like
    Names
    radial fiber and mitotic spindle protein
    radmis

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_041820.1 RefSeqGene

      Range
      5069..33329
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001304361.2 → NP_001291290.1  cytoskeleton-associated protein 2-like isoform 2

      See identical proteins and their annotated locations for NP_001291290.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in its 5' UTR, and uses a downstream start codon, compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC079922, AK097948, AK292530, AK302875, AL832036, BF742811
      UniProtKB/Swiss-Prot
      Q8IYA6
      Conserved Domains (1) summary
      pfam15297
      Location:272 → 569
      CKAP2_C; Cytoskeleton-associated protein 2 C-terminus

    2. NM_152515.5 → NP_689728.3  cytoskeleton-associated protein 2-like isoform 1

      See identical proteins and their annotated locations for NP_689728.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC079922, AK097948, AK292530, AL832036, BF742811, DA506407
      Consensus CDS
      CCDS2100.1
      UniProtKB/Swiss-Prot
      A8K915, B4DZE3, B7ZAC6, F5H0M5, Q53QF8, Q53RS8, Q8IYA6, Q8N1J8
      Related
      ENSP00000305204.6, ENST00000302450.11
      Conserved Domains (1) summary
      pfam15297
      Location:437 → 734
      CKAP2_C; Cytoskeleton-associated protein 2 C-terminus

    RNA

    1. NR_130712.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate splice structure at two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC079922, AK097948, AK292530, AL832036, DA506407

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      112736349..112764609 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510666.3 → XP_011508968.1  cytoskeleton-associated protein 2-like isoform X1

      See identical proteins and their annotated locations for XP_011508968.1

      UniProtKB/Swiss-Prot
      Q8IYA6
      Conserved Domains (1) summary
      pfam15297
      Location:272 → 569
      CKAP2_C; Cytoskeleton-associated protein 2 C-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      113163005..113191260 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340650.1 → XP_054196625.1  cytoskeleton-associated protein 2-like isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYA6.4 GenPept UniProtKB/Swiss-Prot:Q8IYA6

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