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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3074
Gene name Gene Name - the full gene name approved by the HGNC.	Hexosaminidase subunit beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	HEXB
Synonyms (NCBI Gene) Gene synonyms aliases	ENC-1AS, HEL-248, HEL-S-111
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q13.3
Summary Summary of gene provided in NCBI Entrez Gene.	Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-h

Show/Hide all(57)

SNP ID	Visualize variation	Clinical significance	Consequence
rs820878	T>C	Pathogenic, benign	Coding sequence variant, intron variant, missense variant
rs5030731	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Intron variant
rs28942073	C>T	Pathogenic	Coding sequence variant, missense variant
rs121907982	A>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121907983	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121907985	C>T	Pathogenic	Coding sequence variant, missense variant
rs121907986	C>T	Pathogenic	Stop gained, coding sequence variant
rs138914144	C>T	Pathogenic	Stop gained, coding sequence variant
rs147155126	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, intron variant, missense variant
rs201580118	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs373979283	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs398123443	G>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs398123444	AAGTTGTT>-	Pathogenic, uncertain-significance	Intron variant, splice donor variant
rs398123445	CAAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123446	A>G	Likely-pathogenic, pathogenic	Splice acceptor variant
rs398123447	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs398123450	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs573447174	T>C,G	Likely-pathogenic, pathogenic	Stop gained, synonymous variant, coding sequence variant, 5 prime UTR variant
rs727503959	G>A,C	Likely-pathogenic	Intron variant
rs753823903	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs761117459	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, 5 prime UTR variant
rs761197472	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic, benign	Splice donor variant
rs762892362	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs768438206	T>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs771103635	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs771973471	G>-,GG	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs776476415	TGAG>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs779328596	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs794727049	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs794727091	GA>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs797044644	->CAAGTGCTGTTGG	Pathogenic	Coding sequence variant, frameshift variant
rs886039499	C>-	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, frameshift variant
rs892920643	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs967720287	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1007338250	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained, intron variant
rs1057518237	->ACCC	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1060499701	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs1114167287	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs1309123671	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1453919511	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554034423	T>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554034434	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554034447	G>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554034449	G>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1554034452	C>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1554034505	G>A	Likely-pathogenic	Intron variant, splice donor variant
rs1554035308	G>T	Likely-pathogenic	Splice acceptor variant
rs1554036523	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554036638	G>T	Likely-pathogenic	Splice acceptor variant
rs1554036943	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs1554037076	ATTTTAATTTAGG>-	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs1554037120	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554037129	->GAGA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1579950499	T>G	Pathogenic	Stop gained, coding sequence variant
rs1579952143	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1580377105	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1580377261	GCCCCT>CCCCC	Pathogenic	Intron variant, frameshift variant, coding sequence variant

Show/Hide all(16)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030011	hsa-miR-26b-5p	Microarray	19088304
MIRT1044696	hsa-miR-132	CLIP-seq
MIRT1044697	hsa-miR-142-5p	CLIP-seq
MIRT1044698	hsa-miR-212	CLIP-seq
MIRT1044699	hsa-miR-219-5p	CLIP-seq
MIRT1044700	hsa-miR-3613-3p	CLIP-seq
MIRT1044701	hsa-miR-4272	CLIP-seq
MIRT1044702	hsa-miR-4445	CLIP-seq
MIRT1044703	hsa-miR-4666-5p	CLIP-seq
MIRT1044704	hsa-miR-4698	CLIP-seq
MIRT1044705	hsa-miR-4782-3p	CLIP-seq
MIRT1044706	hsa-miR-508-3p	CLIP-seq
MIRT1044707	hsa-miR-548c-3p	CLIP-seq
MIRT1044708	hsa-miR-561	CLIP-seq
MIRT1044709	hsa-miR-607	CLIP-seq
MIRT1044710	hsa-miR-889	CLIP-seq

Show/Hide all(74)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IEA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	IBA
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	IDA	8123671, 8672428
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	IEA
GO:0004563	Function	Beta-N-acetylhexosaminidase activity	TAS	8663217
GO:0005515	Function	Protein binding	IPI	16698036, 28514442, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006044	Process	N-acetylglucosamine metabolic process	IEA
GO:0006491	Process	N-glycan processing	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006687	Process	Glycosphingolipid metabolic process	IEA
GO:0006689	Process	Ganglioside catabolic process	IBA
GO:0006689	Process	Ganglioside catabolic process	IDA	8123671, 8672428
GO:0006689	Process	Ganglioside catabolic process	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0007040	Process	Lysosome organization	IEA
GO:0007338	Process	Single fertilization	IEA
GO:0007338	Process	Single fertilization	ISS
GO:0007341	Process	Penetration of zona pellucida	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008049	Process	Male courtship behavior	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IDA	25645918
GO:0008375	Function	Acetylglucosaminyltransferase activity	IEA
GO:0008654	Process	Phospholipid biosynthetic process	IEA
GO:0009313	Process	Oligosaccharide catabolic process	IEA
GO:0015929	Function	Hexosaminidase activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016231	Function	Beta-N-acetylglucosaminidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0019222	Process	Regulation of metabolic process	IEA
GO:0019915	Process	Lipid storage	IEA
GO:0019953	Process	Sexual reproduction	IEA
GO:0030203	Process	Glycosaminoglycan metabolic process	IBA
GO:0030203	Process	Glycosaminoglycan metabolic process	IDA	11707436, 25645918
GO:0030203	Process	Glycosaminoglycan metabolic process	IEA
GO:0030207	Process	Chondroitin sulfate proteoglycan catabolic process	IEA
GO:0030209	Process	Dermatan sulfate proteoglycan catabolic process	IEA
GO:0030214	Process	Hyaluronan catabolic process	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042552	Process	Myelination	IEA
GO:0042582	Component	Azurophil granule	IDA	25645918
GO:0042582	Component	Azurophil granule	IEA
GO:0042802	Function	Identical protein binding	IDA	6230359
GO:0042802	Function	Identical protein binding	IEA
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043202	Component	Lysosomal lumen	NAS	6458607
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043615	Process	Astrocyte cell migration	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0060473	Component	Cortical granule	IEA
GO:0060473	Component	Cortical granule	ISS
GO:0070050	Process	Neuron cellular homeostasis	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:1901135	Process	Carbohydrate derivative metabolic process	IEA
GO:1905379	Component	Beta-N-acetylhexosaminidase complex	IEA
GO:1905379	Component	Beta-N-acetylhexosaminidase complex	IPI	16698036
GO:1905379	Component	Beta-N-acetylhexosaminidase complex	ISS

MIM	HGNC	e!Ensembl
606873	4879	ENSG00000049860

Protein

UniProt ID

P07686

Protein name

Beta-hexosaminidase subunit beta (EC 3.2.1.52) (Beta-N-acetylhexosaminidase subunit beta) (Hexosaminidase subunit B) (Cervical cancer proto-oncogene 7 protein) (HCC-7) (N-acetyl-beta-glucosaminidase subunit beta) [Cleaved into: Beta-hexosaminidase subunit

Protein function

Hydrolyzes the non-reducing end N-acetyl-D-hexosamine and/or sulfated N-acetyl-D-hexosamine of glycoconjugates, such as the oligosaccharide moieties from proteins and neutral glycolipids, or from certain mucopolysaccharides (PubMed:11707436, Pub

PDB

1NOU , 1NOW , 1NP0 , 1O7A , 2GJX , 2GK1 , 3LMY , 5BRO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14845	Glycohydro_20b2	56 → 178	beta-acetyl hexosaminidase like	Domain
PF00728	Glyco_hydro_20	200 → 517	Glycosyl hydrolase family 20, catalytic domain	Domain

Sequence

MELCGLGLPRPPMLLALLLATLLAAMLALLTQVALVVQVAEAARAPSVSAKPGPALWPLP
LSVKMTPNLLHLAPENFYISHSPNSTAGPSCTLLEEAFRRYHGYIFGFYKWHHEPAEFQA
KTQVQQLLVSITLQSECDAFPNISSDESYTLLVKEPVAVLKANRVWGALRGLETFSQLVY
QDSYGTFTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKTLDAMAFNKFNVLHWHIVD
DQSFPYQSITFPELSNKGSYSLSHVYTPNDVRMVIEYARLRGIRVLPEFDTPGHTLSWGK
GQKDLLTPCYSRQNKLDSFGPINPTLNTTYSFLTTFFKEISEVFPDQFIHLGGDEVEFKC
WESNPKIQDFMRQKGFGTDFKKLESFYIQKVLDIIATINKGSIVWQEVFDDKAKLAPGTI
VEVWKDSAYPEELSRVTASGFPVILSAPWYLDLISYGQDWRKYYKVEPLDFGGTQKQKQL
FIGGEACLWGEYVDATNLTPRLWPRASAVGERLWSSKDVRDMDDAYDRLTRHRCRMVERG
IAAQPLYAGYCNHENM

Sequence length

556

Interactions

View interactions

	KEGG		Reactome
	Other glycan degradation Various types of N-glycan biosynthesis Amino sugar and nucleotide sugar metabolism Glycosaminoglycan degradation Sphingolipid metabolism Glycosphingolipid biosynthesis - globo and isoglobo series Glycosphingolipid biosynthesis - ganglio series Metabolic pathways Lysosome		Glycosphingolipid metabolism Keratan sulfate degradation CS/DS degradation Hyaluronan uptake and degradation Defective HEXB causes GM2G2 Neutrophil degranulation

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Sandhoff Disease	sandhoff disease, infantile form, sandhoff disease, sandhoff disease, adult form	rs1580377105, rs1554036943, rs1579950499, rs776476415, rs1554036638, rs1554037076, rs1579952143, rs753823903, rs1554037170, rs121907986, rs1554037129, rs1554034434, rs5030731, rs1554034423, rs771973471 View all (39 more)	N/A

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Ataxia	Associate	37344817
Autistic Disorder	Associate	31852446
Carcinoma Neuroendocrine	Associate	31852810
Colorectal Neoplasms	Associate	35893034, 36800588, 39947398
Demyelinating Diseases	Associate	29451896
Developmental Disabilities	Associate	31852446
Diabetes Mellitus Type 2	Associate	35893034
Gangliosidoses GM2	Associate	20926324, 6224417, 808963
Gm2 Gangliosidosis Adult Chronic Type	Associate	8950198
Hearing Disorders	Associate	37327298
Heredodegenerative Disorders Nervous System	Associate	31852446
Intellectual Disability	Associate	37327298
Motor Neuron Disease	Associate	23127958
Neoplasms	Associate	6211170
Sandhoff Disease	Associate	12662933, 1386607, 2147027, 22848519, 23127958, 24461908, 3017984, 31852446, 33407268, 34856081, 36142595, 37327298, 37344817, 8950198, 9562328
Schizophrenia	Associate	1967903
Seizures	Associate	31852446, 37327298
Tay Sachs Disease	Associate	12662933, 24518553, 36142595, 808963
Tay Sachs Disease AB Variant	Associate	36142595

HEXB (hexosaminidase subunit beta)