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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3074
Gene name	Hexosaminidase subunit beta
Gene symbol	HEXB
Synonyms (NCBI Gene)	ENC-1ASHEL-248HEL-S-111
Chromosome	5
Chromosome location	5q13.3
Summary	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

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

784

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
HEXB-related disorder	Likely pathogenic; Pathogenic	rs28942073	RCV003407272
Melanoma	Pathogenic	rs121907983	RCV005887274
Sandhoff disease	Pathogenic; Likely pathogenic	rs1749604779, rs1749680051, rs1749812910, rs1312009126, rs2112175206, rs1306678448, rs1272697701, rs2112180705, rs2112180944, rs2478772082, rs1460801055, rs2112186316, rs2112171738, rs1291555996, rs762821794 View all (140 more)	RCV002545035 RCV001381997 RCV001378417 RCV001382863 RCV001382579 RCV001381568 RCV001382002 RCV001386324 RCV001387227 RCV003494058 RCV001383633 RCV001388183 RCV001580726 RCV001732819 RCV003236447 RCV001797888 RCV001984294 RCV001941667 RCV002015164 RCV001932327 RCV001920974 RCV001902454 RCV001958961 RCV001989977 RCV001928798 RCV001922480 RCV002040611 RCV002046604 RCV002020553 RCV001956231 RCV001949467 RCV001952947 RCV001883814 RCV001983432 RCV002243554 RCV002306496 RCV002309840 RCV002309962 RCV002308275 RCV002309205 RCV002309216 RCV002309465 RCV002309533 RCV002306995 RCV002307052 RCV002307068 RCV002307327 RCV002310082 RCV002310382 RCV003087850 RCV000174009 RCV000669552 RCV001238377 RCV002512733 RCV000184012 RCV005089878 RCV002640733 RCV002510393 RCV002594449 RCV002686008 RCV002740583 RCV002819878 RCV002833279 RCV002875685 RCV002871343 RCV002923314 RCV003020686 RCV003033041 RCV000491131 RCV000709991 RCV000668469 RCV000666419 RCV000390326 RCV000286253 RCV003333376 RCV003503918 RCV003503922 RCV003503009 RCV003502347 RCV003502398 RCV003502488 RCV003503384 RCV003610193 RCV003610078 RCV003608730 RCV003608756 RCV000308357 RCV003608832 RCV003610537 RCV003609102 RCV003609651 RCV003609864 RCV003838636 RCV003866406 RCV003880834 RCV004578017 RCV000984275 RCV000669074 RCV000449491 RCV000500181 RCV000502357 RCV000633008 RCV000667714 RCV000671547 RCV000672264 RCV000665204 RCV000674483 RCV000669727 RCV000664552 RCV000669759 RCV000673197 RCV000668508 RCV000670270 RCV000673580 RCV000673828 RCV000669423 RCV000669540 RCV000673881 RCV000674196 RCV000673291 RCV000669675 RCV000674299 RCV000667704 RCV000674128 RCV000671283 RCV000761439 RCV000761558 RCV000781464 RCV000823115 RCV000823847 RCV000985063 RCV001067035 RCV001043436 RCV001053207 RCV001056488 RCV001058264 RCV001038156 RCV001090117 RCV001194423 RCV001193758 RCV001224279 RCV001206614 RCV001233820 RCV001240185 RCV001239339 RCV001244478 RCV001234727 RCV001879821 RCV001264046 RCV001264047 RCV001264048 RCV001264374 RCV001264375 RCV001264376 RCV001264377 RCV001264378 RCV001264379 RCV001264380 RCV001264795 RCV001269215 RCV001004173 RCV000174010 RCV001854394
Sandhoff disease, adult form	Likely pathogenic; Pathogenic	rs28942073, rs121907983, rs1554037088	RCV000004084 RCV000004083 RCV001804177
Sandhoff disease, chronic	Likely pathogenic; Pathogenic	rs121907985	RCV000004088
Sandhoff disease, infantile form	Pathogenic	rs5030731, rs1580377105, rs121907986, rs768438206	RCV000004089 RCV000004090 RCV000004091 RCV000004092
Sandhoff disease, juvenile form	Likely pathogenic; Pathogenic	rs28942073, rs201580118	RCV000004082 RCV002286417
See cases	Likely pathogenic; Pathogenic	rs28942073, rs1416215171, rs138914144	RCV002251870 RCV004798047 RCV004797868

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs114307934	RCV005916289
Cervical cancer	Likely benign	rs114307934	RCV005916290
Hepatocellular carcinoma	Benign	rs781099013	RCV005871296
HEXB POLYMORPHISM	Benign	rs11556045, rs10805890	RCV000004078 RCV000235014
Hexosaminidase B (Paris)	Uncertain significance	rs1554037309	RCV002286414
HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM	Likely benign; other	rs121907984	RCV000004085
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs146572414	RCV005913924
Sarcoma	Likely benign; Conflicting classifications of pathogenicity	rs114307934, rs146572414	RCV005916291 RCV005913923

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)