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] See more...

Aliases for HOOK2 Gene

Aliases for HOOK2 Gene

  • Hook Microtubule Tethering Protein 2 2 3 5
  • Protein Hook Homolog 2 3 4
  • H-Hook2 3 4
  • HHK2 3 4
  • Hook Homolog 2 (Drosophila) 2
  • Hook Homolog 2 3
  • HK2 3

External Ids for HOOK2 Gene

Previous GeneCards Identifiers for HOOK2 Gene

  • GC19M013005
  • GC19M013096
  • GC19M012719
  • GC19M012734
  • GC19M012873
  • GC19M012446
  • GC19M012766
  • GC19M012769
  • GC19M012815
  • GC19M012824
  • GC19M012832
  • GC19M012770
  • GC19M012771
  • GC19M012772
  • GC19M012773
  • GC19M012774
  • GC19M012787
  • GC19M012789
  • GC19M012801

Summaries for HOOK2 Gene

Entrez Gene Summary for HOOK2 Gene

  • 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]

GeneCards Summary for HOOK2 Gene

HOOK2 (Hook Microtubule Tethering Protein 2) is a Protein Coding gene. Diseases associated with HOOK2 include Breast Medullary Carcinoma. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is HOOK3.

UniProtKB/Swiss-Prot Summary for HOOK2 Gene

  • Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Contributes to the establishment and maintenance of centrosome function. May function in the positioning or formation of aggresomes, which are pericentriolar accumulations of misfolded proteins, proteasomes and chaperones.

Gene Wiki entry for HOOK2 Gene

Additional gene information for HOOK2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HOOK2 Gene

Genomics for HOOK2 Gene

GeneHancer (GH) Regulatory Elements for HOOK2 Gene

Promoters and enhancers for HOOK2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J012774 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.2 +86.9 86945 23 RXRA EP300 FOXK2 HNRNPK ZBTB40 ZNF217 CTCF SIN3A NRF1 TCF12 ENSG00000267212 MIR5684 HOOK2 IER2 CCDC130 ZNF136 ZNF791 ZNF44 ZNF564 ZNF442
GH19J012872 Promoter/Enhancer 1 Ensembl ENCODE 500.7 -0.6 -634 0.9 CTCF RFX1 RBM14 KLF9 SP2 TRIM28 POLR2G NR2F2 KLF8 MYC HOOK2 CCDC130 ZNF878 ZNF44 TRMT1 ZNF136 ZNF20 ZNF442 ZNF763 ZNF490
GH19J012943 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 6.2 -74.1 -74128 6.9 RXRA HNRNPK ZBTB40 ZNF217 EP300 SIN3A NRF1 MYC POLR2G USF1 RAD23A ZNF564 CCDC130 MRI1 ZNF136 WDR83OS ZNF799 TRIR ZNF442 RPS6P25
GH19J012757 Enhancer 1.1 ENCODE dbSUPER 12.7 +114.9 114877 1.1 CTCF NRF1 POLR2G ZIC2 GABPA ZBTB26 TARDBP REST RAD21 CTBP1 JUNB HOOK2 GET3 TRIR TNPO2 MAST1 RNASEH2A RTBDN WDR83OS WDR83
GH19J012951 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.5 -82.1 -82145 6.6 HNRNPK ZBTB40 ZNF217 SIN3A MYC POLR2G GTF2E2 PHF8 FOS ZFX GADD45GIP1 MRI1 ZNF564 CCDC130 WDR83OS ZNF136 ZNF799 ZNF442 TRIR ZNF844
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HOOK2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HOOK2

Top Transcription factor binding sites by QIAGEN in the HOOK2 gene promoter:
  • AREB6
  • Egr-1
  • NF-kappaB1
  • p53
  • SRF
  • SRF (504 AA)

Genomic Locations for HOOK2 Gene

Genomic Locations for HOOK2 Gene
chr19:12,763,003-12,872,740
(GRCh38/hg38)
Size:
109,738 bases
Orientation:
Minus strand
chr19:12,873,817-12,983,554
(GRCh37/hg19)
Size:
109,738 bases
Orientation:
Minus strand

Genomic View for HOOK2 Gene

Genes around HOOK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOOK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOOK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOOK2 Gene

Proteins for HOOK2 Gene

  • Protein details for HOOK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96ED9-HOOK2_HUMAN
    Recommended name:
    Protein Hook homolog 2
    Protein Accession:
    Q96ED9
    Secondary Accessions:
    • O60562

    Protein attributes for HOOK2 Gene

    Size:
    719 amino acids
    Molecular mass:
    83207 Da
    Quaternary structure:
    • Self-associates (PubMed:18799622). Component of the FTS/Hook/FHIP complex (FHF complex), composed of AKTIP/FTS, FAM160A2, and one or more members of the Hook family of proteins HOOK1, HOOK2, and HOOK3 (PubMed:18799622). May interact directly with AKTIP/FTS, HOOK1 and HOOK3 (PubMed:18799622). Associates with several subunits of the homotypic vesicular sorting complex (the HOPS complex) including VPS16 and VPS41; these interactions may be indirect (PubMed:18799622). Interacts with CNTRL (PubMed:17140400). Interacts with microtubules (PubMed:11238449). Interacts with ZC3H14 (PubMed:19273536). Interacts with LRGUK (via guanylate kinase-like domain) (By similarity). Interacts with CCDC181 (By similarity).

    Alternative splice isoforms for HOOK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HOOK2 Gene

Post-translational modifications for HOOK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HOOK2 Gene

Domains & Families for HOOK2 Gene

Gene Families for HOOK2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HOOK2 Gene

Blocks:
  • Calponin-like actin-binding
  • HOOK
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HOOK2 Gene

GenScript: Design optimal peptide antigens:
  • Protein Hook homolog 2 (HOOK2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96ED9

UniProtKB/Swiss-Prot:

HOOK2_HUMAN :
  • Belongs to the hook family.
Family:
  • Belongs to the hook family.
genes like me logo Genes that share domains with HOOK2: view

Function for HOOK2 Gene

Molecular function for HOOK2 Gene

UniProtKB/Swiss-Prot Function:
Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex). Contributes to the establishment and maintenance of centrosome function. May function in the positioning or formation of aggresomes, which are pericentriolar accumulations of misfolded proteins, proteasomes and chaperones.

Phenotypes From GWAS Catalog for HOOK2 Gene

Gene Ontology (GO) - Molecular Function for HOOK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008017 microtubule binding IBA 21873635
GO:0042802 identical protein binding IPI 18799622
GO:0051959 dynein light intermediate chain binding IBA 21873635
genes like me logo Genes that share ontologies with HOOK2: view
genes like me logo Genes that share phenotypes with HOOK2: view

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for HOOK2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HOOK2 Gene

Localization for HOOK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOOK2 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm. Cytoplasm, cytoskeleton. Note=Colocalizes with aggresomes, which are aggregates of misfolded proteins, at the centrosome (PubMed:17540036). Also localizes to punctate cytoplasmic foci which do not appear to overlap with early or late endosomes, the endoplasmic reticulum, the Golgi complex, multivesicular bodies (MVBs), lysosome, or mitochondria (PubMed:17540036). Often found in close association with microtubules (PubMed:17540036). Localizes to the manchette in elongating spermatids (By similarity). {ECO:0000250 UniProtKB:Q7TMK6, ECO:0000269 PubMed:17540036}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HOOK2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
mitochondrion 2
nucleus 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HOOK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005813 centrosome IDA,IBA 17140400
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with HOOK2: view

Pathways & Interactions for HOOK2 Gene

PathCards logo

SuperPathways for HOOK2 Gene

No Data Available

SIGNOR curated interactions for HOOK2 Gene

Activates:

Gene Ontology (GO) - Biological Process for HOOK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis TAS 9927460
GO:0007032 endosome organization IMP 18799622
GO:0007040 lysosome organization IMP 18799622
GO:0008333 endosome to lysosome transport IMP 18799622
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with HOOK2: view

No data available for Pathways by source for HOOK2 Gene

Drugs & Compounds for HOOK2 Gene

No Compound Related Data Available

Transcripts for HOOK2 Gene

mRNA/cDNA for HOOK2 Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for HOOK2

Alternative Splicing Database (ASD) splice patterns (SP) for HOOK2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^ 17a ·
SP1: - - - - - -
SP2:
SP3: - - - - -
SP4: -
SP5:
SP6: - -
SP7: -
SP8:
SP9:
SP10:

ExUns: 17b ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for HOOK2 Gene

GeneLoc Exon Structure for
HOOK2

Expression for HOOK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HOOK2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOOK2 Gene

This gene is overexpressed in Pituitary (x4.2).

Protein differential expression in normal tissues from HIPED for HOOK2 Gene

This gene is overexpressed in Bone (63.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HOOK2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HOOK2

SOURCE GeneReport for Unigene cluster for HOOK2 Gene:

Hs.30792

Evidence on tissue expression from TISSUES for HOOK2 Gene

  • Liver(4.1)
genes like me logo Genes that share expression patterns with HOOK2: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HOOK2 Gene

Orthologs for HOOK2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HOOK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HOOK2 31
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HOOK2 31
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HOOK2 31 30
  • 89.09 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hook2 30
  • 83.71 (n)
mouse
(Mus musculus)
Mammalia Hook2 17 31 30
  • 83.52 (n)
oppossum
(Monodelphis domestica)
Mammalia HOOK2 31
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HOOK2 31
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HOOK2 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hook2 30
  • 63.89 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1897 30
zebrafish
(Danio rerio)
Actinopterygii hook2 31 30
  • 64.55 (n)
OneToOne
zgc66419 30
fruit fly
(Drosophila melanogaster)
Insecta hk 31
  • 31 (a)
OneToMany
Species where no ortholog for HOOK2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HOOK2 Gene

ENSEMBL:
Gene Tree for HOOK2 (if available)
TreeFam:
Gene Tree for HOOK2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HOOK2: view image

Paralogs for HOOK2 Gene

Paralogs for HOOK2 Gene

(11) SIMAP similar genes for HOOK2 Gene using alignment to 9 proteins:

  • HOOK2_HUMAN
  • K7EJ48_HUMAN
  • K7EJ65_HUMAN
  • K7EJA7_HUMAN
  • K7EK29_HUMAN
  • K7EMG7_HUMAN
  • K7EMR5_HUMAN
  • K7ENU5_HUMAN
  • K7EQA2_HUMAN
genes like me logo Genes that share paralogs with HOOK2: view

Variants for HOOK2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HOOK2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
770807 Benign: not provided 12,772,183(-) C/A INTRON_VARIANT
774525 Likely Benign: not provided 12,763,569(-) C/T MISSENSE_VARIANT
784829 Benign: not provided 12,767,435(-) C/G MISSENSE_VARIANT
rs2305376 - p.Gly10Arg
rs897804 - p.His488Gln

Additional dbSNP identifiers (rs#s) for HOOK2 Gene

Structural Variations from Database of Genomic Variants (DGV) for HOOK2 Gene

Variant ID Type Subtype PubMed ID
dgv138n111 CNV deletion 26073780
esv2667754 CNV deletion 23128226
nsv1160586 CNV duplication 26073780
nsv953977 CNV deletion 24416366

Variation tolerance for HOOK2 Gene

Residual Variation Intolerance Score: 71.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.34; 85.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HOOK2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOOK2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOOK2 Gene

Disorders for HOOK2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HOOK2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
breast medullary carcinoma
  • medullary breast carcinoma with lymphoid stroma
- elite association - COSMIC cancer census association via MalaCards
Search HOOK2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HOOK2

genes like me logo Genes that share disorders with HOOK2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HOOK2 Gene

Publications for HOOK2 Gene

  1. Genetic analysis of hook, a gene required for endocytic trafficking in drosophila. (PMID: 9927460) Krämer H … Phistry M (Genetics 1999) 2 3 4 54
  2. SUT-2 potentiates tau-induced neurotoxicity in Caenorhabditis elegans. (PMID: 19273536) Guthrie CR … Kraemer BC (Human molecular genetics 2009) 3 4 54
  3. An FTS/Hook/p107(FHIP) complex interacts with and promotes endosomal clustering by the homotypic vacuolar protein sorting complex. (PMID: 18799622) Xu L … Harper JW (Molecular biology of the cell 2008) 3 4 54
  4. Hook2 contributes to aggresome formation. (PMID: 17540036) Szebenyi G … Krämer H (BMC cell biology 2007) 3 4 54
  5. Hook2 localizes to the centrosome, binds directly to centriolin/CEP110 and contributes to centrosomal function. (PMID: 17140400) Szebenyi G … Krämer H (Traffic (Copenhagen, Denmark) 2007) 3 4 54

Products for HOOK2 Gene

Sources for HOOK2 Gene