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

Gene ID: 150468, updated on 5-Mar-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
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Genomic context

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Location:
2q14.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (112736349..112764609, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (113163005..113191260, complement)
105.20220307 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
  • 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. 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
  3. 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
  4. 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
  5. CKAP2L Promotes Non-Small Cell Lung Cancer Progression through Regulation of Transcription Elongation. Monteverde T, et al. Cancer Res, 2021 Apr 1. PMID 33472893

See all (31) 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
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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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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_2023_10

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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