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

Gene ID: 150468, updated on 16-Aug-2021

Summary

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
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

See CKAP2L in Genome Data Viewer
Location:
2q14.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (112736349..112764617, complement)
105.20201022 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 solute carrier family 20 member 1 Neighboring gene uncharacterized LOC102724955 Neighboring gene 5'-nucleotidase domain containing 4 Neighboring gene Sharpr-MPRA regulatory region 10892 Neighboring gene interleukin 1 alpha

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
is_active_in mitotic spindle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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

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_001304361.2NP_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:272569
    CKAP2_C; Cytoskeleton-associated protein 2 C-terminus
  2. NM_152515.5NP_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
    Q8IYA6
    Related
    ENSP00000305204.6, ENST00000302450.11
    Conserved Domains (1) summary
    pfam15297
    Location:437734
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    112736349..112764617 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510666.2XP_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:272569
    CKAP2_C; Cytoskeleton-associated protein 2 C-terminus
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