Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (47)

miRTarBase ID	miRNA	Experiments
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
MIRT1057775	hsa-miR-3179	CLIP-seq
MIRT1057776	hsa-miR-3667-3p	CLIP-seq
MIRT1057777	hsa-miR-378g	CLIP-seq
MIRT1057778	hsa-miR-4270	CLIP-seq
MIRT1057779	hsa-miR-4290	CLIP-seq
MIRT1057780	hsa-miR-4306	CLIP-seq
MIRT1057781	hsa-miR-4441	CLIP-seq
MIRT1057782	hsa-miR-4488	CLIP-seq
MIRT1057783	hsa-miR-4644	CLIP-seq
MIRT1057784	hsa-miR-4667-3p	CLIP-seq
MIRT1057785	hsa-miR-4697-5p	CLIP-seq
MIRT1057786	hsa-miR-4718	CLIP-seq
MIRT1057787	hsa-miR-4720-5p	CLIP-seq
MIRT1057788	hsa-miR-4736	CLIP-seq
MIRT1057789	hsa-miR-4763-3p	CLIP-seq
MIRT1057790	hsa-miR-4799-3p	CLIP-seq
MIRT1057791	hsa-miR-516a-3p	CLIP-seq
MIRT1057792	hsa-miR-637	CLIP-seq
MIRT1057771	hsa-miR-1343	CLIP-seq
MIRT2013290	hsa-miR-145	CLIP-seq
MIRT2013291	hsa-miR-1913	CLIP-seq
MIRT2013292	hsa-miR-2355-3p	CLIP-seq
MIRT2013293	hsa-miR-324-3p	CLIP-seq
MIRT1057777	hsa-miR-378g	CLIP-seq
MIRT2013294	hsa-miR-3925-3p	CLIP-seq
MIRT1057779	hsa-miR-4290	CLIP-seq
MIRT1057782	hsa-miR-4488	CLIP-seq
MIRT2013295	hsa-miR-4646-3p	CLIP-seq
MIRT1057784	hsa-miR-4667-3p	CLIP-seq
MIRT1057785	hsa-miR-4697-5p	CLIP-seq
MIRT2013296	hsa-miR-508-5p	CLIP-seq
MIRT1057791	hsa-miR-516a-3p	CLIP-seq
MIRT1057792	hsa-miR-637	CLIP-seq
MIRT2245545	hsa-miR-1182	CLIP-seq
MIRT1057771	hsa-miR-1343	CLIP-seq
MIRT1057777	hsa-miR-378g	CLIP-seq
MIRT1057779	hsa-miR-4290	CLIP-seq
MIRT1057782	hsa-miR-4488	CLIP-seq
MIRT1057784	hsa-miR-4667-3p	CLIP-seq
MIRT1057785	hsa-miR-4697-5p	CLIP-seq
MIRT1057791	hsa-miR-516a-3p	CLIP-seq
MIRT1057792	hsa-miR-637	CLIP-seq

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
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0004415	Function	Hyalurononglucosaminidase activity	IDA	11296287
GO:0004415	Function	Hyalurononglucosaminidase activity	IDA	9712871, 11944887, 16600643, 17170110, 18390475, 19443707, 20554532
GO:0004415	Function	Hyalurononglucosaminidase activity	TAS
GO:0005515	Function	Protein binding	IPI	12676986, 16191204, 25416956, 32296183, 32814053, 33961781
GO:0005540	Function	Hyaluronic acid binding	IDA	12676986, 19443707
GO:0005737	Component	Cytoplasm	IDA	17170110
GO:0005764	Component	Lysosome	IDA	9712871, 16600643
GO:0005783	Component	Endoplasmic reticulum	NAS	16191204
GO:0005829	Component	Cytosol	IDA	19366691
GO:0005886	Component	Plasma membrane	IDA	18390475, 21740893
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005902	Component	Microvillus	IDA	19366691
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006027	Process	Glycosaminoglycan catabolic process	IDA	9712871
GO:0009615	Process	Response to virus	IDA	11296287, 12676986
GO:0009615	Process	Response to virus	IEA
GO:0009897	Component	External side of plasma membrane	IDA	19443707
GO:0009897	Component	External side of plasma membrane	IDA	11296287, 16191204, 20554532
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IDA	17170110
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0010764	Process	Negative regulation of fibroblast migration	IDA	19577615
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	20554532
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0019899	Function	Enzyme binding	IPI	19366691
GO:0030139	Component	Endocytic vesicle	IDA	19366691
GO:0030214	Process	Hyaluronan catabolic process	IBA
GO:0030214	Process	Hyaluronan catabolic process	IDA	17170110, 19443707, 20554532, 21699545
GO:0030214	Process	Hyaluronan catabolic process	IEA
GO:0030214	Process	Hyaluronan catabolic process	TAS
GO:0030294	Function	Receptor signaling protein tyrosine kinase inhibitor activity	IDA	12676986
GO:0030308	Process	Negative regulation of cell growth	IDA	18725949
GO:0030971	Function	Receptor tyrosine kinase binding	IPI	12676986
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031410	Component	Cytoplasmic vesicle	IDA	16600643, 18390475
GO:0032755	Process	Positive regulation of interleukin-6 production	IDA	19443707
GO:0032757	Process	Positive regulation of interleukin-8 production	IDA	19443707
GO:0033906	Function	Hyaluronoglucuronidase activity	IBA
GO:0033906	Function	Hyaluronoglucuronidase activity	IDA	21699545
GO:0035810	Process	Positive regulation of urine volume	ISS
GO:0042117	Process	Monocyte activation	IDA	19443707
GO:0042307	Process	Positive regulation of protein import into nucleus	IEA
GO:0042307	Process	Positive regulation of protein import into nucleus	ISS
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IDA	19577615
GO:0045121	Component	Membrane raft	IDA	21740893
GO:0045121	Component	Membrane raft	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046677	Process	Response to antibiotic	IEP	11944887
GO:0046718	Process	Symbiont entry into host cell	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	16600643
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0050431	Function	Transforming growth factor beta binding	IEA
GO:0050431	Function	Transforming growth factor beta binding	ISS
GO:0050729	Process	Positive regulation of inflammatory response	IDA	19443707
GO:0051216	Process	Cartilage development	IEP	11944887
GO:0051607	Process	Defense response to virus	IEA
GO:0051898	Process	Negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	12676986
GO:0060586	Process	Multicellular organismal-level iron ion homeostasis	IEA
GO:0070295	Process	Renal water absorption	ISS
GO:0071347	Process	Cellular response to interleukin-1	IDA	18390475
GO:0071356	Process	Cellular response to tumor necrosis factor	IEP	18390475
GO:0071493	Process	Cellular response to UV-B	IDA	21699545
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IDA	19366691
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IEA
GO:0090575	Component	RNA polymerase II transcription regulator complex	ISS	19366691
GO:0098552	Component	Side of membrane	IEA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IEA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	ISS	19366691

MIM	HGNC	e!Ensembl
603551	5321	ENSG00000068001

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

MRAGPGPTVTLALVLAVSWAMELKPTAPPIFTGRPFVVAWDVPTQDCGPRLKVPLDLNAF
DVQASPNEGFVNQNITIFYRDRLGLYPRFDSAGRSVHGGVPQNVSLWAHRKMLQKRVEHY
IRTQESAGLAVIDWEDWRPVWVRNWQDKDVYRRLSRQLVASRHPDWPPDRIVKQAQYEFE
FAAQQFMLETLRYVKAVRPRHLWGFYLFPDCYNHDYVQNWESYTGRCPDVEVARNDQLAW
LWAESTALFPSVYLDETLASSRHGRNFVSFRVQEALRVARTHHANHALPVYVFTRPTYSR
RLTGLSEMDLISTIGESAALGAAGVILWGDAGYTTSTETCQYLKDYLTRLLVPYVVNVSW
ATQYCSRAQCHGHGRCVRRNPSASTFLHLSTNSFRLVPGHAPGEPQLRPVGELSWADIDH
LQTHFRCQCYLGWSGEQCQWDHRQAAGGASEAWAGSHLTSLLALAALAFTWTL

Sequence length

473

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan degradation Metabolic pathways Lysosome		Hyaluronan uptake and degradation

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
HYAL2 deficiency	Pathogenic; Likely pathogenic	rs139960719, rs2109322411, rs1553715895, rs782682203, rs781999115, rs2109324483, rs2109324707, rs1321268291, rs1553716439, rs782642246	RCV001731165 RCV001731164 RCV001731163 RCV001731162 RCV001731160 RCV001731159 RCV001731158 RCV001731157 RCV001731156 RCV001731155
Muggenthaler-Chowdhury-Chioza syndrome	Pathogenic; Likely pathogenic	rs2109322411, rs1553715895, rs782682203, rs781999115, rs2109324483, rs1321268291, rs1553716439, rs782642246	RCV005002012 RCV005002011 RCV005002010 RCV005002008 RCV005002007 RCV005002006 RCV005002005 RCV005002004

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
HYAL2-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs142405670, rs200201922, rs1702653471, rs782689985, rs781994735, rs78532114, rs149454549, rs201694655, rs140376758, rs150004751, rs184202689	RCV003946029 RCV003395736 RCV003391553 RCV003410490 RCV003896871 RCV003904307 RCV003903890 RCV003912032 RCV003944129 RCV003971374 RCV003970510
Lung cancer	Uncertain significance	rs782689985	RCV005932790

Show/Hide Text Mining Associations (36)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Coronary Syndrome	Associate	30236312, 33733989
Arthritis	Associate	15535829
Arthritis Rheumatoid	Associate	15535829
Carcinogenesis	Associate	11296287
Carcinoma Endometrioid	Associate	20875124
Cardiovascular Diseases	Associate	39285429
Choroidal Effusions	Associate	23202930
Colorectal Neoplasms	Associate	20849597, 26453961
Coronary Disease	Associate	39285429
Depressive Disorder Major	Associate	36281744
Down Syndrome	Associate	15890266
Endometrial Neoplasms	Inhibit	20875124
Esophageal Squamous Cell Carcinoma	Associate	36290884
Familial Primary Pulmonary Hypertension	Associate	18776053
Graves Ophthalmopathy	Associate	32084270
Growth Disorders	Associate	32583022
Intervertebral Disc Degeneration	Associate	33251629
Lung Neoplasms	Inhibit	11296287
Lung Neoplasms	Associate	19181417
Melanoma Cutaneous Malignant	Associate	23560496
Mesothelioma Malignant	Associate	37334363
Nasal Polyps	Associate	23377816
Neoplasm Metastasis	Associate	23202930
Neoplasms	Inhibit	11296287, 20875124, 22139571
Neoplasms	Stimulate	20849597
Neoplasms	Associate	23560496
Osteoarthritis	Associate	15535829
Ovarian Neoplasms	Associate	19435493, 23202930, 35767191
Pulmonary Disease Chronic Obstructive	Associate	15681498
Pulmonary Disease Chronic Obstructive	Stimulate	34354097
Squamous Cell Carcinoma of Head and Neck	Associate	22430805
Status Asthmaticus	Associate	18390475
Stress Disorders Post Traumatic	Associate	36281744
Stroke	Associate	39285429
Syndrome	Associate	26633546
Tooth Erosion	Associate	30236312, 33733989

HYAL2 (hyaluronidase 2)