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    HOOK2 hook microtubule tethering protein 2 [ Homo sapiens (human) ]

    Gene ID: 29911, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HOOK2provided by HGNC
    Official Full Name
    hook microtubule tethering protein 2provided by HGNC
    Primary source
    HGNC:HGNC:19885
    See related
    Ensembl:ENSG00000095066 MIM:607824; AllianceGenome:HGNC:19885
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HK2
    Summary
    Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]
    Expression
    Ubiquitous expression in fat (RPKM 18.1), duodenum (RPKM 14.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HOOK2 in Genome Data Viewer
    Location:
    19p13.13
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12763003..12792350, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12887497..12916842, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (12873817..12903164, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-FlowFISH-validated TRIR regulatory element Neighboring gene guided entry of tail-anchored proteins factor 3, ATPase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12855878-12856378 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10166 Neighboring gene bestrophin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12876343-12876888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12881756-12882256 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:12882257-12882757 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:12885288-12885968 Neighboring gene CRISPRi-FlowFISH-validated DNASE2 and PRDX2 regulatory element Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14077 Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element 2 Neighboring gene CRISPRi-FlowFISH-validated JUNB and PRDX2 regulatory element 1 Neighboring gene CRISPRi-FlowFISH-validated JUNB and PRDX2 regulatory element 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14079 Neighboring gene CRISPRi-FlowFISH-validated JUNB regulatory element Neighboring gene CRISPRi-FlowFISH-validated PRDX2 regulatory element 3 Neighboring gene microRNA 5684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10173 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:12904163-12904664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14082 Neighboring gene JunB proto-oncogene, AP-1 transcription factor subunit Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14083 Neighboring gene CRISPRi-FlowFISH-validated RNASEH2A regulatory element Neighboring gene peroxiredoxin 2 Neighboring gene thrombospondin type 1 domain containing 8

    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. Altered intragenic DNA methylation of HOOK2 gene in adipose tissue from individuals with obesity and type 2 diabetes. Rodríguez-Rodero S, et al. PLoS One, 2017. PMID 29228058, Free PMC Article
    2. Hook2 is involved in the morphogenesis of the primary cilium. Baron Gaillard CL, et al. Mol Biol Cell, 2011 Dec. PMID 21998199, Free PMC Article
    3. Hook2 contributes to aggresome formation. Szebenyi G, et al. BMC Cell Biol, 2007 May 31. PMID 17540036, Free PMC Article
    4. Coding Variants in HOOK2 and GTPBP3 May Contribute to Risk of Primary Angle Closure Glaucoma. Qiao C, et al. DNA Cell Biol, 2020 Jun. PMID 32397755
    5. Hook2 localizes to the centrosome, binds directly to centriolin/CEP110 and contributes to centrosomal function. Szebenyi G, et al. Traffic, 2007 Jan. PMID 17140400

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Coding Variants in HOOK2 and GTPBP3 May Contribute to Risk of Primary Angle Closure Glaucoma
      Title: Coding Variants in HOOK2 and GTPBP3 May Contribute to Risk of Primary Angle Closure Glaucoma.
    2. We first demonstrate that Hook2 is essential for the polarized Golgi re-orientation towards the migration front. Depletion of Hook2 results in a decrease of PAR6alpha at the centrosome during cell migration, while overexpression of Hook2 in cells induced the formation of aggresomes with the recruitment of PAR6alpha, aPKC and PAR3
      Title: Hook2, a microtubule-binding protein, interacts with Par6α and controls centrosome orientation during polarized cell migration.
    3. differential methylation profile of the HOOK2 gene in individuals with T2D and obesity might be related to the attendant T2D, but further studies are required to identify the potential role of HOOK2 gene in T2D disease
      Title: Altered intragenic DNA methylation of HOOK2 gene in adipose tissue from individuals with obesity and type 2 diabetes.
    4. Hook2 localizes at the Golgi apparatus and centrosome/basal body, a strategic partitioning for ciliogenesis. Hook2 interacts with PCM1.
      Title: Hook2 is involved in the morphogenesis of the primary cilium.
    5. Results identify Hook2, a linker protein that is essential for regulation of the microtubule network at the centrosome, as a binding partner of CENP-F.
      Title: Murine CENP-F regulates centrosomal microtubule nucleation and interacts with Hook2 at the centrosome.
    6. Hook2 contributes to the establishment and maintenance of the pericentrosomal localization of aggresomes by promoting the microtubule-based delivery of protein aggregates to pericentriolar aggresomes.
      Title: Hook2 contributes to aggresome formation.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ26218

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables microtubule binding 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 cytoplasmic microtubule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cytoskeleton-dependent intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in early endosome to late endosome transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endocytosis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in lysosome organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to perinuclear region of cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of FHF complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of HOPS complex 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 cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein Hook homolog 2
    Names
    h-hook2
    hHK2
    hook homolog 2

    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.

    mRNA and Protein(s)

    1. NM_001100176.2 → NP_001093646.1  protein Hook homolog 2 isoform 2

      See identical proteins and their annotated locations for NP_001093646.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AF044924, BC012443, DB474423
      Consensus CDS
      CCDS42507.1
      UniProtKB/Swiss-Prot
      Q96ED9
      Related
      ENSP00000264827.4, ENST00000264827.9
      Conserved Domains (1) summary
      pfam05622
      Location:8 → 704
      HOOK; HOOK protein

    2. NM_001400041.1 → NP_001386970.1  protein Hook homolog 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC018761

    3. NM_001400043.1 → NP_001386972.1  protein Hook homolog 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC018761

    4. NM_001400044.1 → NP_001386973.1  protein Hook homolog 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC018761

    5. NM_001400045.1 → NP_001386974.1  protein Hook homolog 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC018761

    6. NM_001400046.1 → NP_001386975.1  protein Hook homolog 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC018761

    7. NM_001400047.1 → NP_001386976.1  protein Hook homolog 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC018761

    8. NM_001400048.1 → NP_001386977.1  protein Hook homolog 2 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC018761

    9. NM_013312.3 → NP_037444.2  protein Hook homolog 2 isoform 1

      See identical proteins and their annotated locations for NP_037444.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF044924, BC012443, DB474423
      Consensus CDS
      CCDS42508.1
      UniProtKB/Swiss-Prot
      O60562, Q96ED9
      Related
      ENSP00000380785.2, ENST00000397668.8
      Conserved Domains (1) summary
      pfam05622
      Location:8 → 706
      HOOK; HOOK protein

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      12763003..12792350 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      12887497..12916842 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96ED9.3 GenPept UniProtKB/Swiss-Prot:Q96ED9

    Gene LinkOut

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

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