HYAL2
hyaluronidase 2, the group of Hyaluronidases
Basic information
Region (hg38): 3:50317790-50322782
Links
Phenotypes
GenCC
Source:
- orofacial cleft (Moderate), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Muggenthaler-Chowdhury-Chioza syndrome | AR | Audiologic/Otolaryngologic; Cardiovascular | Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development; The condition can involve congenital cardiac anomalies, and awareness may allow early management | Audiologic/Otolaryngologic; Cardiovascular; Craniofacial; Neurologic | 26633546; 28081210; 34906488 |
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn_genetic_diseases (62 variants)
- HYAL2_deficiency (12 variants)
- HYAL2-related_disorder (11 variants)
- Muggenthaler-Chowdhury-Chioza_syndrome (9 variants)
- not_provided (8 variants)
- Congenital_myopathy_4B,_autosomal_recessive (1 variants)
- Cleft_lip_and_palate-craniofacial_dysmorphism-congenital_heart_defect-hearing_loss_syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HYAL2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003773.5. 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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 8 | |||||
| missense | 68 | 80 | ||||
| nonsense | 2 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 4 | 8 | 69 | 9 | 1 |
Highest pathogenic variant AF is 0.0000154911
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| HYAL2 | protein_coding | protein_coding | ENST00000447092 | 3 | 5117 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.187 | 0.813 | 125729 | 0 | 16 | 125745 | 0.0000636 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.40 | 248 | 318 | 0.780 | 0.0000216 | 3054 |
| Missense in Polyphen | 87 | 125.84 | 0.69136 | 1248 | ||
| Synonymous | -0.790 | 132 | 121 | 1.09 | 0.00000723 | 1009 |
| Loss of Function | 3.06 | 5 | 19.7 | 0.254 | 0.00000112 | 168 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000578 | 0.0000578 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000885 | 0.0000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.000134 | 0.000131 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product which is further hydrolyzed by sperm hyaluronidase to give small oligosaccharides. Displays very low levels of activity. Associates with and negatively regulates MST1R. {ECO:0000269|PubMed:11296287, ECO:0000269|PubMed:12676986, ECO:0000269|PubMed:9712871}.;
- Pathway
- Glycosaminoglycan degradation - Homo sapiens (human);Hyaluronan uptake and degradation;Hyaluronan metabolism;Metabolism of carbohydrates;Glycosaminoglycan metabolism;Metabolism
(Consensus)
Recessive Scores
- pRec
- 0.153
Intolerance Scores
- loftool
- 0.536
- rvis_EVS
- -0.42
- rvis_percentile_EVS
- 25.56
Haploinsufficiency Scores
- pHI
- 0.240
- hipred
- Y
- hipred_score
- 0.703
- ghis
- 0.548
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.811
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hyal2
- Phenotype
- craniofacial phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype; vision/eye phenotype; immune system phenotype; renal/urinary system phenotype; skeleton phenotype; liver/biliary system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype;
Gene ontology
- Biological process
- response to reactive oxygen species;kidney development;hematopoietic progenitor cell differentiation;carbohydrate metabolic process;glycosaminoglycan catabolic process;response to virus;multicellular organism aging;negative regulation of fibroblast migration;fusion of virus membrane with host plasma membrane;transformation of host cell by virus;hyaluronan catabolic process;negative regulation of cell growth;positive regulation of urine volume;monocyte activation;positive regulation of protein import into nucleus;negative regulation of MAP kinase activity;cellular response to fibroblast growth factor stimulus;positive regulation of transcription by RNA polymerase II;response to antibiotic;viral entry into host cell;skeletal system morphogenesis;positive regulation of inflammatory response;cartilage development;defense response to virus;negative regulation of protein kinase B signaling;multicellular organismal iron ion homeostasis;negative regulation of protein tyrosine kinase activity;renal water absorption;cellular response to interleukin-1;cellular response to tumor necrosis factor;cellular response to UV-B;cellular response to transforming growth factor beta stimulus;positive regulation of interleukin-8 secretion;positive regulation of interleukin-6 secretion;positive regulation of extrinsic apoptotic signaling pathway
- Cellular component
- Golgi membrane;cytoplasm;lysosome;endoplasmic reticulum;cytosol;plasma membrane;microvillus;cell surface;apical plasma membrane;endocytic vesicle;anchored component of external side of plasma membrane;cytoplasmic vesicle;membrane raft;anchored component of plasma membrane;perinuclear region of cytoplasm;RNA polymerase II transcription factor complex
- Molecular function
- virus receptor activity;transcription coactivator activity;hyalurononglucosaminidase activity;protein binding;hyaluronic acid binding;enzyme binding;receptor signaling protein tyrosine kinase inhibitor activity;receptor tyrosine kinase binding;hyaluronoglucuronidase activity;transforming growth factor beta binding