HOOK2

hook microtubule tethering protein 2, the group of FHF complex

Basic information

Region (hg38): 19:12763003-12872740

Links

ENSG00000095066NCBI:29911OMIM:607824HGNC:19885Uniprot:Q96ED9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HOOK2 gene.

  • not_specified (116 variants)
  • not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HOOK2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013312.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
112
clinvar
4
clinvar
1
clinvar
117
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 112 5 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
HOOK2protein_codingprotein_codingENST00000397668 23109738
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
4.65e-180.69112548101021255830.000406
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3714294510.9510.00003034578
Missense in Polyphen113103.321.09371224
Synonymous0.7941741880.9260.00001181421
Loss of Function1.983550.20.6980.00000265528

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001010.000988
Ashkenazi Jewish0.000.00
East Asian0.0008910.000875
Finnish0.00004660.0000463
European (Non-Finnish)0.0004660.000457
Middle Eastern0.0008910.000875
South Asian0.0001960.000196
Other0.0003310.000327

dbNSFP

Source: dbNSFP

Function
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. {ECO:0000269|PubMed:17140400, ECO:0000269|PubMed:17540036, ECO:0000269|PubMed:18799622}.;

Recessive Scores

pRec
0.107

Intolerance Scores

loftool
0.932
rvis_EVS
0.31
rvis_percentile_EVS
72.75

Haploinsufficiency Scores

pHI
0.101
hipred
Y
hipred_score
0.523
ghis
0.498

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.961

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Hook2
Phenotype

Gene ontology

Biological process
endocytosis;endosome organization;lysosome organization;endosome to lysosome transport;protein transport;cytoskeleton-dependent intracellular transport;cytoplasmic microtubule organization;early endosome to late endosome transport
Cellular component
cytoplasm;centrosome;cytosol;microtubule;HOPS complex;intracellular membrane-bounded organelle;FHF complex
Molecular function
protein binding;microtubule binding;identical protein binding;dynein light intermediate chain binding