HEXD (hexosaminidase D)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 284004
Gene name Hexosaminidase D
Gene symbol HEXD
Synonyms (NCBI Gene)
HEXDC
Chromosome 17
Chromosome location 17q25.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0004553 Function Hydrolase activity, hydrolyzing O-glycosyl compounds IEA
GO:0004563 Function Beta-N-acetylhexosaminidase activity IDA 23099419, 27149221
GO:0004563 Function Beta-N-acetylhexosaminidase activity IEA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616864 26307 ENSG00000169660
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WVB3
Protein name Hexosaminidase D (EC 3.2.1.52) (Beta-N-acetylhexosaminidase) (Beta-hexosaminidase D) (Hexosaminidase domain-containing protein) (N-acetyl-beta-galactosaminidase)
Protein function Has hexosaminidase activity. Responsible for the cleavage of the monosaccharides N-acetylglucosamine (GlcNAc) and N-acetylgalactosamine (GalNAc) from cellular substrates. Has a preference for galactosaminide over glucosaminide substrates (PubMed
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00728 Glyco_hydro_20 46 → 240 Glycosyl hydrolase family 20, catalytic domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in synovial fibroblasts and synovial membranes. {ECO:0000269|PubMed:23099419}.
Sequence 
MSGSTPFQMRLVHLDLKGAPPKVSYLSEIFPLFRALGANGLLIEYEDMFPYEGPLRLLRA
KYAYSPSEIKEILHLAGLNELEVIPLVQTFGHMEFVLKHTAFAHLREVGSFPCTLNPHEA
ESLALVGAMIDQVLELHPGAQRLHIGCDEVYYLGEGEASRRWLQQEQNSTGKLCLSHMRA
VASGVKARRPSVTPLVWDDMLRDLPEDQLAASGVPQLVEPVLWDYTADLDVHGKVLLMQK
YRRCGFPQLWAASAFKGATGPSQAVPPVEHHLRNHVQWLQVAGSGPTDSLQGIILTGWQR
YDHYSVLCELLPAGVPSLAACLQLLLRGGFDEDVKAKVENLLGISSLEKTDPVREGAGSF
PGSNILALVTQVSLHLRSSVDALLEGNRYVTGWFSPYHRQRKLIHPVMVQHIQPAALSLL
AQWSTLVQELEAALQLAFYPDAVEEWLEENVHPSLQRLQALLQDLSEVSAPPLPPTSPGR
DVAQDP
Sequence length 486
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Other glycan degradation
Various types of N-glycan biosynthesis
Metabolic pathways 		 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (2)
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
COLORECTAL ADENOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Dyskinetic syndrome Dyskinetic Syndrome BEFREE 28132521
★★★★★
★☆☆☆☆
Found in Text Mining only
Gilles de la Tourette syndrome Tourette Syndrome BEFREE 11923278
★★★★★
★☆☆☆☆
Found in Text Mining only
Gm2-Gangliosidosis, Variant B1 Gangliosidosis BEFREE 10481922
★★★★★
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Disorders Neurodegenerative Disorders BEFREE 24057669, 25971245
★★★★★
★☆☆☆☆
Found in Text Mining only
Sandhoff Disease Sandhoff Disease BEFREE 19145603, 25971245
★★★★★
★☆☆☆☆
Found in Text Mining only
Tay-Sachs Disease Tay-Sachs Disease BEFREE 3375249, 6226462
★★★★★
★☆☆☆☆
Found in Text Mining only
Timothy syndrome Timothy Syndrome BEFREE 11923278
★★★★★
★☆☆☆☆
Found in Text Mining only
Tricuspid Valve Stenosis Tricuspid Valve Stenosis BEFREE 11923278
★★★★★
★☆☆☆☆
Found in Text Mining only
Tuberous Sclerosis Tuberous Sclerosis BEFREE 11923278
★★★★★
★☆☆☆☆
Found in Text Mining only