Gene Gene information from NCBI Gene database.
Entrez ID 84376
Gene name Hook microtubule tethering protein 3
Gene symbol HOOK3
Synonyms (NCBI Gene)
HK3
Chromosome 8
Chromosome location 8p11.21
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 endocyt
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs747141054 G>A Likely-pathogenic Missense variant, coding sequence variant
rs1563293555 T>G Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
1732
miRTarBase ID miRNA Experiments Reference
MIRT026745 hsa-miR-192-5p Microarray 19074876
MIRT047303 hsa-miR-181a-5p CLASH 23622248
MIRT046999 hsa-miR-181a-3p CLASH 23622248
MIRT039786 hsa-miR-615-3p CLASH 23622248
MIRT718763 hsa-miR-556-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000242 Component Pericentriolar material IEA
GO:0000242 Component Pericentriolar material ISS
GO:0005515 Function Protein binding IPI 17237231, 18799622, 23414517, 28514442, 32073997, 32296183, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607825 23576 ENSG00000168172
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86VS8
Protein name Protein Hook homolog 3 (h-hook3) (hHK3)
Protein function Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates the interaction between dynein and dynactin and activat
PDB 5J8E , 6B9H , 8QAT , 9KNS , 9KO8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF19047 HOOK_N 11 161 HOOK domain Domain
PF05622 HOOK 184 709 HOOK protein coiled-coil region Coiled-coil
Sequence
Sequence length 718
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Motor proteins  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Short stature Likely pathogenic rs1563293555 RCV000736156
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 22498738
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 33377180 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 34239350 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 33221754, 33564363, 34239350 Associate
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis BEFREE 9468341
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 28105937
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 28105937, 29504907 Associate
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis Pubtator 37266442 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 22498738 Inhibit
★☆☆☆☆
Found in Text Mining only