Gene Gene information from NCBI Gene database.
Entrez ID 3037
Gene name Hyaluronan synthase 2
Gene symbol HAS2
Synonyms (NCBI Gene)
-
Chromosome 8
Chromosome location 8q24.13
Summary Hyaluronan or hyaluronic acid (HA) is a high molecular weight unbranched polysaccharide synthesized by a wide variety of organisms from bacteria to mammals, and is a constituent of the extracellular matrix. It consists of alternating glucuronic acid and
miRNA miRNA information provided by mirtarbase database.
236
miRTarBase ID miRNA Experiments Reference
MIRT005828 hsa-miR-204-5p Microarray 21282569
MIRT035534 hsa-let-7a-5p Luciferase reporter assay 22871741
MIRT437760 hsa-miR-202-3p Luciferase reporter assay 23334589
MIRT706426 hsa-miR-106a-5p HITS-CLIP 22927820
MIRT706425 hsa-miR-106b-5p HITS-CLIP 22927820
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
SP1 Repression 21795679
YY1 Repression 21795679
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
66
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000271 Process Polysaccharide biosynthetic process IBA
GO:0000271 Process Polysaccharide biosynthetic process IEA
GO:0000271 Process Polysaccharide biosynthetic process ISS
GO:0001570 Process Vasculogenesis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601636 4819 ENSG00000170961
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92819
Protein name Hyaluronan synthase 2 (EC 2.4.1.212) (Hyaluronate synthase 2) (Hyaluronic acid synthase 2) (HA synthase 2)
Protein function Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer (Probable) (PubMed:20507985, PubMed:21228273, PubMed:23303191, PubMed:32993960). Therefore, it is essential to hyaluronan synthesis a major component of
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03142 Chitin_synth_2 193 367 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in fibroblasts.
Sequence
MHCERFLCILRIIGTTLFGVSLLLGITAAYIVGYQFIQTDNYYFSFGLYGAFLASHLIIQ
SLFAFLEHRKMKKSLETPIKLNKTVALCIAAYQEDPDYLRKCLQSVKRLTYPGIKVVMVI
DGNSEDDLYMMDIFSEVMGRDKSATYIWKNNFHEKGPGETDESHKESSQHVTQLVLSNKS
ICIMQKWGGKREVMYTAFRALGRSVDYVQVCDSDTMLDPASSVEMVKVLEEDPMVGGVGG
DVQILNKYDSWISFLSSVRYWMAFNIERACQSYFGCVQCISGPLGMYRNSLLHEFVEDWY
NQEFMGNQCSFGDDRHLTNRVLSLGYATKYTARSKCLTETPIEYLRWLNQQTRWSKSYFR
EWLYNAM
WFHKHHLWMTYEAIITGFFPFFLIATVIQLFYRGKIWNILLFLLTVQLVGLIK
SSFASCLRGNIVMVFMSLYSVLYMSSLLPAKMFAIATINKAGWGTSGRKTIVVNFIGLIP
VSVWFTILLGGVIFTIYKESKRPFSESKQTVLIVGTLLYACYWVMLLTLYVVLINKCGRR
KKGQQYDMVLDV
Sequence length 552
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Hyaluronan biosynthesis and export
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
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
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE ClinGen, Disgenet, GWAS catalog
ClinGen, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
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
Adenocarcinoma Adenocarcinoma LHGDN 11790779
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 30507579 Stimulate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 31109321
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 14752026
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 21357421 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 30361541
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 29914429
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 29914429 Associate
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 14752026
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis LHGDN 14752026
★☆☆☆☆
Found in Text Mining only