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

Gene ID: 29911, updated on 7-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (12763003..12792350, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (12887497..12916842, complement)
105.20220307 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. 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
  3. 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
  4. Hook2 contributes to aggresome formation. Szebenyi G, et al. BMC Cell Biol, 2007 May 31. PMID 17540036, Free PMC Article
  5. Murine CENP-F regulates centrosomal microtubule nucleation and interacts with Hook2 at the centrosome. Moynihan KL, et al. Mol Biol Cell, 2009 Nov. PMID 19793914, Free PMC Article

See all (47) 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)

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

  • 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_2023_10

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

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