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    KIF2A kinesin family member 2A [ Homo sapiens (human) ]

    Gene ID: 3796, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KIF2Aprovided by HGNC
    Official Full Name
    kinesin family member 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:6318
    See related
    Ensembl:ENSG00000068796 MIM:602591; AllianceGenome:HGNC:6318
    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
    Also known as
    HK2; KIF2; CDCBM3
    Summary
    The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
    Expression
    Broad expression in testis (RPKM 17.8), brain (RPKM 16.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KIF2A in Genome Data Viewer
    Location:
    5q12.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (62306206..62391025)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (63125434..63210585)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (61602033..61686852)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900610 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:61306801-61307329 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:61339008-61339553 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:61339554-61340098 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:61370472-61371439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:61457226-61457726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:61457727-61458227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:61458278-61458778 Neighboring gene RN7SK pseudogene 157 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:61532143-61532644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:61532645-61533144 Neighboring gene CRISPRi-validated cis-regulatory element chr5.1488 Neighboring gene Sharpr-MPRA regulatory region 4645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:61610189-61610690 Neighboring gene CREB regulated transcription coactivator 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16052 Neighboring gene DIM1 rRNA methyltransferase and ribosome maturation factor Neighboring gene RNA, U6 small nuclear 661, pseudogene Neighboring gene importin 11 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:61791875-61792070 Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 3

    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. A family-based association study of kinesin heavy chain member 2 gene (KIF2) and schizophrenia. Li C, et al. Neurosci Lett, 2006 Oct 23. PMID 16959419
    2. Kinesin family member 2A links with advanced tumor stage, reduced chemosensitivity and worse prognosis in gastric cancer. Bai F, et al. J Clin Lab Anal, 2022 May. PMID 35313389, Free PMC Article
    3. Silencing Kif2a induces apoptosis in squamous cell carcinoma of the oral tongue through inhibition of the PI3K/Akt signaling pathway. Wang K, et al. Mol Med Rep, 2014 Jan. PMID 24248467
    4. Clinical significance of kinesin family member 2A as a facilitating biomarker of disease surveillance and prognostication in cervical cancer patients. Lei G, et al. Ir J Med Sci, 2022 Apr. PMID 33797694
    5. Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3. Hatano M, et al. Am J Med Genet A, 2021 Apr. PMID 33506645

    See all (173) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NuSAP regulates microtubule flux and Kif2A localization to ensure accurate chromosome congression.
      Title: NuSAP regulates microtubule flux and Kif2A localization to ensure accurate chromosome congression.
    2. The minus-end depolymerase KIF2A drives flux-like treadmilling of gammaTuRC-uncapped microtubules.
      Title: The minus-end depolymerase KIF2A drives flux-like treadmilling of γTuRC-uncapped microtubules.
    3. Kinesin family member 2A links with advanced tumor stage, reduced chemosensitivity and worse prognosis in gastric cancer.
      Title: Kinesin family member 2A links with advanced tumor stage, reduced chemosensitivity and worse prognosis in gastric cancer.
    4. Clinical significance of kinesin family member 2A as a facilitating biomarker of disease surveillance and prognostication in cervical cancer patients.
      Title: Clinical significance of kinesin family member 2A as a facilitating biomarker of disease surveillance and prognostication in cervical cancer patients.
    5. Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
      Title: Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3.
    6. Separable roles for RanGTP in nuclear and ciliary trafficking of a kinesin-2 subunit.
      Title: Separable roles for RanGTP in nuclear and ciliary trafficking of a kinesin-2 subunit.
    7. Long Non-Coding RNA Paternally Expressed Imprinted Gene 10 (PEG10) Elevates Diffuse Large B-Cell Lymphoma Progression by Regulating Kinesin Family Member 2A (KIF2A) via Targeting MiR-101-3p.
      Title: Long Non-Coding RNA Paternally Expressed Imprinted Gene 10 (PEG10) Elevates Diffuse Large B-Cell Lymphoma Progression by Regulating Kinesin Family Member 2A (KIF2A) via Targeting MiR-101-3p.
    8. Identification of Kinesin Family Member 2A (KIF2A) as a Promising Therapeutic Target for Osteosarcoma.
      Title: Identification of Kinesin Family Member 2A (KIF2A) as a Promising Therapeutic Target for Osteosarcoma.
    9. Reciprocal regulation of Aurora kinase A and ATIP3 in the control of metaphase spindle length.
      Title: Reciprocal regulation of Aurora kinase A and ATIP3 in the control of metaphase spindle length.
    10. Association of kinesin family member 2A with increased disease risk, deteriorative clinical characteristics, and shorter survival profiles in acute myeloid leukemia.
      Title: Association of kinesin family member 2A with increased disease risk, deteriorative clinical characteristics, and shorter survival profiles in acute myeloid leukemia.
    Submit: New GeneRIF Correction See all GeneRIFs (45)

    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
    Complex cortical dysplasia with other brain malformations 3
    MedGen: C3809414 OMIM: 615411 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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Expression of HIV-1 Tat downregulates the abundance of kinesin heavy chain member 2A (KIF2A) in the nucleoli of Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cytoskeletal motor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in microtubule cytoskeleton organization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in microtubule depolymerization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic spindle organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell migration IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of centriolar subdistal appendage IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    part_of kinesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane HDA PubMed 
    colocalizes_with microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in spindle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with spindle microtubule IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kinesin-like protein KIF2A
    Names
    Kinesin, heavy chain, 2
    kinesin heavy chain member 2A
    kinesin-2

    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_042185.2 RefSeqGene

      Range
      5002..89821
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001098511.3 → NP_001091981.1  kinesin-like protein KIF2A isoform 2

      See identical proteins and their annotated locations for NP_001091981.1

      Status: REVIEWED

      Source sequence(s)
      AC016637, AC034242
      Consensus CDS
      CCDS47216.1
      UniProtKB/TrEMBL
      B4DM85
      Related
      ENSP00000385000.3, ENST00000407818.8
      Conserved Domains (2) summary
      smart00129
      Location:223 → 559
      KISc; Kinesin motor, catalytic domain. ATPase
      cd01367
      Location:223 → 551
      KISc_KIF2_like; Kinesin motor domain, KIF2-like group

    2. NM_001243952.2 → NP_001230881.2  kinesin-like protein KIF2A isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC016637, AC034242, BC047544
      Consensus CDS
      CCDS58949.2
      UniProtKB/TrEMBL
      A0A6Q8PGH7
      Related
      ENSP00000370493.3, ENST00000381103.7
      Conserved Domains (1) summary
      cd01367
      Location:196 → 524
      KISc_KIF2_like; Kinesin motor domain, KIF2-like group

    3. NM_001243953.2 → NP_001230882.1  kinesin-like protein KIF2A isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC016637, AI652174, AK315866, DB452624, DB456309
      Consensus CDS
      CCDS93716.1
      UniProtKB/TrEMBL
      A0A6Q8PFA6, B0AZS5
      Related
      ENSP00000501719.1, ENST00000676271.1
      Conserved Domains (2) summary
      smart00129
      Location:204 → 539
      KISc; Kinesin motor, catalytic domain. ATPase
      cd01367
      Location:204 → 532
      KISc_KIF2_like; Kinesin motor domain, KIF2-like group

    4. NM_004520.5 → NP_004511.2  kinesin-like protein KIF2A isoform 1

      See identical proteins and their annotated locations for NP_004511.2

      Status: REVIEWED

      Source sequence(s)
      AC016637, AI652174, DB456309, EF560728
      Consensus CDS
      CCDS3980.2
      UniProtKB/Swiss-Prot
      A5YM42, A5YM54, B4DY54, D3DW97, E9PB70, O00139, Q7Z5I3, Q8N5Q7
      UniProtKB/TrEMBL
      A0A6Q8PGH7
      Related
      ENSP00000385622.3, ENST00000401507.7
      Conserved Domains (2) summary
      smart00129
      Location:223 → 558
      KISc; Kinesin motor, catalytic domain. ATPase
      cd01367
      Location:223 → 551
      KISc_KIF2_like; Kinesin motor domain, KIF2-like group

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      62306206..62391025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      63125434..63210585
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00139.3 GenPept UniProtKB/Swiss-Prot:O00139

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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