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Gene Gene information from NCBI Gene database.
Entrez ID 8692
Gene name Hyaluronidase 2
Gene symbol HYAL2
Synonyms (NCBI Gene)
LUCA2MCCS
Chromosome 3
Chromosome location 3p21.31
Summary This gene encodes a weak acid-active hyaluronidase. The encoded protein is similar in structure to other more active hyaluronidases. Hyaluronidases degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan and fragmen
miRNA miRNA information provided by mirtarbase database.
47 Show/Hide all (47)
miRTarBase ID miRNA Experiments Reference
MIRT1057770 hsa-miR-1207-5p CLIP-seq
MIRT1057771 hsa-miR-1343 CLIP-seq
MIRT1057772 hsa-miR-185 CLIP-seq
MIRT1057773 hsa-miR-3128 CLIP-seq
MIRT1057774 hsa-miR-3154 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
82 Show/Hide all (82)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane ISS 21740893
GO:0000302 Process Response to reactive oxygen species IDA 20554532
GO:0001618 Function Virus receptor activity IDA 11296287, 16191204
GO:0001618 Function Virus receptor activity IEA
GO:0001822 Process Kidney development ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603551 5321 ENSG00000068001
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12891
Protein name Hyaluronidase-2 (Hyal-2) (EC 3.2.1.35) (Hyaluronoglucosaminidase-2) (Lung carcinoma protein 2) (LuCa-2)
Protein function Catalyzes hyaluronan degradation into small fragments that are endocytosed and degraded in lysosomes by HYAL1 and exoglycosidases (PubMed:9712871). Essential for the breakdown of extracellular matrix hyaluronan (PubMed:28081210). {ECO:0000269|Pu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01630 Glyco_hydro_56 29 → 362 Hyaluronidase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed (at protein level). {ECO:0000269|PubMed:9712871}.
Sequence
Sequence length 473
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Glycosaminoglycan degradation Hyaluronan uptake and degradation
Metabolic pathways  
Lysosome  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
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
HYAL2 deficiency Pathogenic; Likely pathogenic rs139960719, rs2109322411, rs1553715895, rs782682203, rs781999115, rs2109324483, rs2109324707, rs1321268291, rs1553716439, rs782642246 RCV001731165
RCV001731164
RCV001731163
RCV001731162
RCV001731160
View all (5 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muggenthaler-Chowdhury-Chioza syndrome Pathogenic; Likely pathogenic rs2109322411, rs1553715895, rs782682203, rs781999115, rs2109324483, rs1321268291, rs1553716439, rs782642246 RCV005002012
RCV005002011
RCV005002010
RCV005002008
RCV005002007
View all (3 more)
★★★★★
★★★★★
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.
Show/Hide Unknown Diseases (9)
Phenotype Name Clinical Significance Source Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 35851147
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT LIP AND PALATE, CRANIOFACIAL DYSMORPHISM, CONGENITAL HEART DEFECT, HEARING LOSS SYNDROME — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME — Orphanet 28081210
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE — GWAS catalog 35851147
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYAL2-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (63)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 12596899
★★★★★
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28978057
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 15535829
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 15535829 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 15535829 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 15386412
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12584308, 16125700, 20473947, 25213452
★★★★★
★☆☆☆☆
Found in Text Mining only
Bronchioloalveolar Adenocarcinoma Lung adenocarcinoma BEFREE 11296287, 12676986
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 11296287 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 23202930
★★★★★
★☆☆☆☆
Found in Text Mining only