Cluster composition

Functions

Category	Name	IntersectionWithQuery	PValue	GenesInTerm	GenesInQuery	GenesInTermInQuery	ID
GeneOntologyMolecularFunction	glucosamine-6-phosphate deaminase activity	GNPDA1 GNPDA2	2.65e-06	2	33	2	GO:0004342
GeneOntologyMolecularFunction	glycosyltransferase activity	HEXA HEXB A4GNT CERCAM PGAP4 TIPARP	6.82e-06	288	33	6	GO:0016757
GeneOntologyMolecularFunction	beta-N-acetylhexosaminidase activity	HEXA HEXB	3.96e-05	6	33	2	GO:0004563
GeneOntologyMolecularFunction	acetylglucosaminyltransferase activity	HEXA HEXB A4GNT	6.35e-05	47	33	3	GO:0008375
GeneOntologyMolecularFunction	UDP-glycosyltransferase activity	HEXA HEXB A4GNT CERCAM	1.14e-04	153	33	4	GO:0008194
GeneOntologyMolecularFunction	hexosaminidase activity	HEXA HEXB	3.55e-04	17	33	2	GO:0015929
GeneOntologyMolecularFunction	hexosyltransferase activity	HEXA HEXB A4GNT CERCAM	3.90e-04	211	33	4	GO:0016758
GeneOntologyMolecularFunction	phospholipid scramblase activity	CLPTM1L ANO5	6.56e-04	23	33	2	GO:0017128
GeneOntologyMolecularFunction	deaminase activity	GNPDA1 GNPDA2	1.44e-03	34	33	2	GO:0019239
GeneOntologyMolecularFunction	hydrolase activity, acting on glycosyl bonds	HEXA HEXB SMPD1	1.71e-03	144	33	3	GO:0016798
GeneOntologyMolecularFunction	intramembrane lipid transporter activity	CLPTM1L ANO5	3.21e-03	51	33	2	GO:0140303
GeneOntologyMolecularFunction	phospholipid transporter activity	CLPTM1L ANO5	6.64e-03	74	33	2	GO:0005548
GeneOntologyBiologicalProcess	glucosamine catabolic process	GNPDA1 GNPDA2	2.64e-06	2	34	2	GO:0006043
GeneOntologyBiologicalProcess	N-acetylglucosamine metabolic process	HEXB GNPDA1 GNPDA2	4.58e-06	20	34	3	GO:0006044
GeneOntologyBiologicalProcess	N-acetylglucosamine catabolic process	GNPDA1 GNPDA2	7.90e-06	3	34	2	GO:0006046
GeneOntologyBiologicalProcess	glycosphingolipid catabolic process	HEXA HEXB SMPD1	8.09e-06	24	34	3	GO:0046479
GeneOntologyBiologicalProcess	glycolipid catabolic process	HEXA HEXB SMPD1	1.17e-05	27	34	3	GO:0019377
GeneOntologyBiologicalProcess	carbohydrate derivative catabolic process	HEXA HEXB SMPD1 GNPDA1 MTOR GNPDA2	1.31e-05	323	34	6	GO:1901136
GeneOntologyBiologicalProcess	glucosamine-containing compound metabolic process	HEXB GNPDA1 GNPDA2	1.45e-05	29	34	3	GO:1901071
GeneOntologyBiologicalProcess	dermatan sulfate catabolic process	HEXA HEXB	2.63e-05	5	34	2	GO:0030209
GeneOntologyBiologicalProcess	glucosamine metabolic process	GNPDA1 GNPDA2	3.94e-05	6	34	2	GO:0006041
GeneOntologyBiologicalProcess	glycolipid metabolic process	HEXA HEXB PGAP4 SMPD1	4.27e-05	119	34	4	GO:0006664
GeneOntologyBiologicalProcess	liposaccharide metabolic process	HEXA HEXB PGAP4 SMPD1	4.41e-05	120	34	4	GO:1903509
GeneOntologyBiologicalProcess	ganglioside catabolic process	HEXA HEXB	5.51e-05	7	34	2	GO:0006689
GeneOntologyBiologicalProcess	N-acetylneuraminate catabolic process	GNPDA1 GNPDA2	5.51e-05	7	34	2	GO:0019262
GeneOntologyBiologicalProcess	amino sugar metabolic process	HEXB GNPDA1 GNPDA2	6.31e-05	47	34	3	GO:0006040
GeneOntologyBiologicalProcess	sphingolipid catabolic process	HEXA HEXB SMPD1	7.16e-05	49	34	3	GO:0030149
GeneOntologyBiologicalProcess	carbohydrate metabolic process	HEXA HEXB A4GNT SPATA20 GNPDA1 MTOR GNPDA2	7.36e-05	646	34	7	GO:0005975
GeneOntologyBiologicalProcess	organic acid catabolic process	HEXA HEXB GNPDA1 MTOR GNPDA2	7.82e-05	272	34	5	GO:0016054
GeneOntologyBiologicalProcess	carboxylic acid catabolic process	HEXA HEXB GNPDA1 MTOR GNPDA2	7.82e-05	272	34	5	GO:0046395
GeneOntologyBiologicalProcess	glucosamine-containing compound catabolic process	GNPDA1 GNPDA2	9.43e-05	9	34	2	GO:1901072
GeneOntologyBiologicalProcess	UDP-N-acetylglucosamine biosynthetic process	GNPDA1 GNPDA2	9.43e-05	9	34	2	GO:0006048
GeneOntologyBiologicalProcess	membrane lipid catabolic process	HEXA HEXB SMPD1	1.01e-04	55	34	3	GO:0046466
GeneOntologyBiologicalProcess	dermatan sulfate metabolic process	HEXA HEXB	1.18e-04	10	34	2	GO:0030205
GeneOntologyBiologicalProcess	amino sugar biosynthetic process	GNPDA1 GNPDA2	1.44e-04	11	34	2	GO:0046349
GeneOntologyBiologicalProcess	amide metabolic process	HEXA HEXB SMPD1 GNPDA1 MTOR GNPDA2	1.67e-04	511	34	6	GO:0043603
GeneOntologyBiologicalProcess	dermatan sulfate proteoglycan metabolic process	HEXA HEXB	2.03e-04	13	34	2	GO:0050655
GeneOntologyBiologicalProcess	N-acetylneuraminate metabolic process	GNPDA1 GNPDA2	2.03e-04	13	34	2	GO:0006054
GeneOntologyBiologicalProcess	glycosphingolipid metabolic process	HEXA HEXB SMPD1	2.35e-04	73	34	3	GO:0006687
GeneOntologyBiologicalProcess	UDP-N-acetylglucosamine metabolic process	GNPDA1 GNPDA2	2.37e-04	14	34	2	GO:0006047
GeneOntologyBiologicalProcess	amino sugar catabolic process	GNPDA1 GNPDA2	2.73e-04	15	34	2	GO:0046348
GeneOntologyBiologicalProcess	hyaluronan catabolic process	HEXA HEXB	3.97e-04	18	34	2	GO:0030214
GeneOntologyBiologicalProcess	membrane lipid metabolic process	HEXA HEXB PGAP4 SMPD1	5.28e-04	229	34	4	GO:0006643
GeneOntologyBiologicalProcess	small molecule catabolic process	HEXA HEXB GNPDA1 MTOR GNPDA2	5.91e-04	421	34	5	GO:0044282
GeneOntologyBiologicalProcess	nucleotide-sugar biosynthetic process	GNPDA1 GNPDA2	6.53e-04	23	34	2	GO:0009226
GeneOntologyBiologicalProcess	carbohydrate derivative metabolic process	HEXA HEXB A4GNT PGAP4 SMPD1 GNPDA1 MTOR GNPDA2	6.90e-04	1226	34	8	GO:1901135
GeneOntologyBiologicalProcess	cellular catabolic process	HEXA HEXB SMPD1 EXOC1 GNPDA1 MTOR GNPDA2 UBR4	7.96e-04	1253	34	8	GO:0044248
GeneOntologyBiologicalProcess	protein dephosphorylation	SMPD1 MTMR6 MTOR VCAN	8.02e-04	256	34	4	GO:0006470
GeneOntologyBiologicalProcess	ceramide catabolic process	HEXA HEXB	8.36e-04	26	34	2	GO:0046514
GeneOntologyBiologicalProcess	ceramide metabolic process	HEXA HEXB SMPD1	8.47e-04	113	34	3	GO:0006672
GeneOntologyBiologicalProcess	lytic vacuole organization	HEXA HEXB MTOR	9.83e-04	119	34	3	GO:0080171
GeneOntologyBiologicalProcess	lysosome organization	HEXA HEXB MTOR	9.83e-04	119	34	3	GO:0007040
GeneOntologyBiologicalProcess	ganglioside metabolic process	HEXA HEXB	1.04e-03	29	34	2	GO:0001573
GeneOntologyBiologicalProcess	regulation of dephosphorylation	SMPD1 MTOR VCAN	1.21e-03	128	34	3	GO:0035303
GeneOntologyBiologicalProcess	glycosaminoglycan catabolic process	HEXA HEXB	1.27e-03	32	34	2	GO:0006027
GeneOntologyBiologicalProcess	carboxylic acid metabolic process	HEXA HEXB PCBD2 GNPDA1 MTOR GNPDA2 UBR4	1.28e-03	1035	34	7	GO:0019752
GeneOntologyBiologicalProcess	plasma membrane repair	ANO5 SMPD1	1.43e-03	34	34	2	GO:0001778
GeneOntologyBiologicalProcess	oxoacid metabolic process	HEXA HEXB PCBD2 GNPDA1 MTOR GNPDA2 UBR4	1.46e-03	1058	34	7	GO:0043436
GeneOntologyBiologicalProcess	organic acid metabolic process	HEXA HEXB PCBD2 GNPDA1 MTOR GNPDA2 UBR4	1.51e-03	1064	34	7	GO:0006082
GeneOntologyBiologicalProcess	regulation of cell maturation	TCP11X1 MTOR	1.69e-03	37	34	2	GO:1903429
GeneOntologyBiologicalProcess	monocarboxylic acid catabolic process	HEXA HEXB MTOR	1.74e-03	145	34	3	GO:0072329
GeneOntologyBiologicalProcess	aminoglycan catabolic process	HEXA HEXB	1.79e-03	38	34	2	GO:0006026
GeneOntologyBiologicalProcess	lipid biosynthetic process	HEXB PGAP4 SMPD1 MTMR6 MTOR UBR4	1.92e-03	813	34	6	GO:0008610
GeneOntologyBiologicalProcess	hyaluronan metabolic process	HEXA HEXB	1.98e-03	40	34	2	GO:0030212
GeneOntologyBiologicalProcess	nucleotide-sugar metabolic process	GNPDA1 GNPDA2	2.39e-03	44	34	2	GO:0009225
GeneOntologyBiologicalProcess	dephosphorylation	SMPD1 MTMR6 MTOR VCAN	2.45e-03	347	34	4	GO:0016311
GeneOntologyCellularComponent	beta-N-acetylhexosaminidase complex	HEXA HEXB	2.72e-06	2	35	2	GO:1905379
GeneOntologyCellularComponent	lysosomal lumen	HEXA HEXB SMPD1 VCAN	2.13e-05	98	35	4	GO:0043202
GeneOntologyCellularComponent	vacuolar lumen	HEXA HEXB SMPD1 VCAN	2.17e-04	178	35	4	GO:0005775
HumanPheno	Cherry red spot of the macula	HEXA HEXB SMPD1	4.52e-07	13	7	3	HP:0010729
HumanPheno	Abnormal retinal artery morphology	HEXA HEXB SMPD1	8.36e-05	70	7	3	HP:0000630
HumanPheno	Abnormal glycosphingolipid metabolism	HEXA HEXB	8.85e-05	11	7	2	HP:0004343
HumanPheno	Abnormal head blood vessel morphology	HEXA HEXB SMPD1	1.34e-04	82	7	3	HP:3000036
HumanPheno	Abnormality of glycolipid metabolism	HEXA HEXB	1.92e-04	16	7	2	HP:0010969
HumanPheno	Abnormality of liposaccharide metabolism	HEXA HEXB	1.92e-04	16	7	2	HP:0010968
Domain	Glucosamine6P_isomerase_CS	GNPDA1 GNPDA2	3.03e-06	2	33	2	IPR018321
Domain	Beta_hexosaminidase_sua/sub	HEXA HEXB	3.03e-06	2	33	2	IPR025705
Domain	Glucosamine6P_isomerase	GNPDA1 GNPDA2	3.03e-06	2	33	2	IPR004547
Domain	Glycohydro_20b2	HEXA HEXB	3.03e-06	2	33	2	PF14845
Domain	HEX_eukaryotic_N	HEXA HEXB	3.03e-06	2	33	2	IPR029019
Domain	-	HEXA HEXB	3.03e-06	2	33	2	3.30.379.10
Domain	Chitobiase/Hex_dom_2-like	HEXA HEXB	3.03e-06	2	33	2	IPR029018
Domain	GLC_GALNAC_ISOMERASE	GNPDA1 GNPDA2	3.03e-06	2	33	2	PS01161
Domain	Glyco_hydro_20	HEXA HEXB	9.07e-06	3	33	2	PF00728
Domain	Glyco_hydro_20_cat	HEXA HEXB	9.07e-06	3	33	2	IPR015883
Domain	Glc/Gal-6P_isomerase	GNPDA1 GNPDA2	1.81e-05	4	33	2	IPR006148
Domain	Glucosamine_iso	GNPDA1 GNPDA2	1.81e-05	4	33	2	PF01182
Domain	Calcineurin-like_PHP_ApaH	SMPD1 DBR1	1.11e-03	28	33	2	IPR004843
Domain	Metallophos	SMPD1 DBR1	1.11e-03	28	33	2	PF00149
Domain	Metallo-depent_PP-like	SMPD1 DBR1	1.28e-03	30	33	2	IPR029052
Domain	-	SMPD1 DBR1	1.28e-03	30	33	2	3.60.21.10
Domain	-	HEXA HEXB	1.74e-03	35	33	2	3.20.20.80
Domain	Glyco_hydro_catalytic_dom	HEXA HEXB	2.05e-03	38	33	2	IPR013781
Domain	Glycoside_hydrolase_SF	HEXA HEXB	3.94e-03	53	33	2	IPR017853
Domain	Nucleotide-diphossugar_trans	A4GNT CERCAM	1.05e-02	88	33	2	IPR029044
Pathway	KEGG_AMINO_SUGAR_AND_NUCLEOTIDE_SUGAR_METABOLISM	HEXA HEXB GNPDA1 GNPDA2	5.80e-07	44	22	4	M8104
Pathway	REACTOME_CS_DS_DEGRADATION	HEXA HEXB VCAN	9.34e-07	13	22	3	MM14805
Pathway	REACTOME_CS_DS_DEGRADATION	HEXA HEXB VCAN	1.19e-06	14	22	3	M651
Pathway	REACTOME_GLYCOSPHINGOLIPID_CATABOLISM	HEXA HEXB SMPD1	1.91e-05	34	22	3	MM17076
Pathway	KEGG_MEDICUS_REFERENCE_KERATAN_SULFATE_DEGRADATION	HEXA HEXB	2.32e-05	5	22	2	M47609
Pathway	REACTOME_GLYCOSPHINGOLIPID_CATABOLISM	HEXA HEXB SMPD1	2.91e-05	39	22	3	M48042
Pathway	REACTOME_DISEASES_ASSOCIATED_WITH_GLYCOSAMINOGLYCAN_METABOLISM	HEXA HEXB VCAN	3.38e-05	41	22	3	M27257
Pathway	REACTOME_METABOLISM_OF_CARBOHYDRATES	HEXA HEXB GNPDA1 VCAN GNPDA2	5.10e-05	271	22	5	MM15406
Pathway	REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM	HEXA HEXB VCAN	5.45e-05	48	22	3	MM14696
Pathway	REACTOME_CHONDROITIN_SULFATE_DERMATAN_SULFATE_METABOLISM	HEXA HEXB VCAN	6.17e-05	50	22	3	M678
Pathway	REACTOME_METABOLISM_OF_CARBOHYDRATES	HEXA HEXB GNPDA1 VCAN GNPDA2	6.81e-05	288	22	5	M16864
Pathway	REACTOME_GLYCOSPHINGOLIPID_METABOLISM	HEXA HEXB SMPD1	7.35e-05	53	22	3	MM14647
Pathway	REACTOME_GLYCOSPHINGOLIPID_METABOLISM	HEXA HEXB SMPD1	9.63e-05	58	22	3	M576
Pathway	REACTOME_HYALURONAN_UPTAKE_AND_DEGRADATION	HEXA HEXB	1.52e-04	12	22	2	M660
Pathway	REACTOME_HYALURONAN_UPTAKE_AND_DEGRADATION	HEXA HEXB	1.52e-04	12	22	2	MM14868
Pathway	WP_GANGLIO_SERIES_SPHINGOLIPID_METABOLISM	HEXA HEXB	1.79e-04	13	22	2	M46459
Pathway	KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_GLOBO_SERIES	HEXA HEXB	2.09e-04	14	22	2	M12899
Pathway	REACTOME_KERATAN_SULFATE_DEGRADATION	HEXA HEXB	2.41e-04	15	22	2	M691
Pathway	KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_GANGLIO_SERIES	HEXA HEXB	2.41e-04	15	22	2	M8535
Pathway	REACTOME_KERATAN_SULFATE_DEGRADATION	HEXA HEXB	2.41e-04	15	22	2	MM14799
Pathway	KEGG_OTHER_GLYCAN_DEGRADATION	HEXA HEXB	2.75e-04	16	22	2	M17844
Pathway	REACTOME_HYALURONAN_METABOLISM	HEXA HEXB	3.12e-04	17	22	2	M666
Pathway	WP_DEGRADATION_PATHWAY_OF_SPHINGOLIPIDS_INCLUDING_DISEASES	HEXA HEXB	3.12e-04	17	22	2	M39638
Pathway	REACTOME_HYALURONAN_METABOLISM	HEXA HEXB	3.12e-04	17	22	2	MM14864
Pathway	WP_GLYCOSAMINOGLYCAN_DEGRADATION	HEXA HEXB	3.12e-04	17	22	2	M39832
Pathway	REACTOME_SPHINGOLIPID_METABOLISM	HEXA HEXB SMPD1	3.79e-04	92	22	3	MM15086
Pathway	KEGG_GLYCOSAMINOGLYCAN_DEGRADATION	HEXA HEXB	4.80e-04	21	22	2	M3624
Pathway	REACTOME_SPHINGOLIPID_METABOLISM	HEXA HEXB SMPD1	5.89e-04	107	22	3	M14857
Pathway	KEGG_LYSOSOME	HEXA HEXB SMPD1	8.43e-04	121	22	3	M11266
Pathway	REACTOME_GLYCOSAMINOGLYCAN_METABOLISM	HEXA HEXB VCAN	8.84e-04	123	22	3	MM14623
Pathway	REACTOME_GLYCOSAMINOGLYCAN_METABOLISM	HEXA HEXB VCAN	9.48e-04	126	22	3	M695
Pathway	PID_IL2_PI3K_PATHWAY	SMPD1 MTOR	1.27e-03	34	22	2	M143
Pathway	REACTOME_DISEASES_OF_GLYCOSYLATION	HEXA HEXB VCAN	1.37e-03	143	22	3	M27275
Pathway	REACTOME_KERATAN_SULFATE_KERATIN_METABOLISM	HEXA HEXB	1.42e-03	36	22	2	M690
Pathway	REACTOME_KERATAN_SULFATE_KERATIN_METABOLISM	HEXA HEXB	1.42e-03	36	22	2	MM14632
Pathway	WP_OVARIAN_INFERTILITY	SMPD1 MTOR	1.66e-03	39	22	2	M39458
Pubmed	Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.	HEXA HEXB SMPD1	3.73e-09	4	35	3	34554397
Pubmed	Specificity of mouse GM2 activator protein and beta-N-acetylhexosaminidases A and B. Similarities and differences with their human counterparts in the catabolism of GM2.	HEXA HEXB	9.84e-07	2	35	2	9417048
Pubmed	Neural precursor cell cultures from GM2 gangliosidosis animal models recapitulate the biochemical and molecular hallmarks of the brain pathology.	HEXA HEXB	9.84e-07	2	35	2	19166507
Pubmed	Classification of disorders of GM2 ganglioside hydrolysis using 3H-GM2 as substrate.	HEXA HEXB	9.84e-07	2	35	2	8123671
Pubmed	Activity of lysosomal exoglycosidases in human gliomas.	HEXA HEXB	9.84e-07	2	35	2	16710745
Pubmed	Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.	HEXA HEXB	9.84e-07	2	35	2	3013851
Pubmed	Genetic expression of hexokinase and glucose phosphate isomerase in late-stage mouse preimplantation embryos: transcription activities in glucose/phosphate-containing HTF and glucose/phosphate-free P1 media.	HEXA HEXB	9.84e-07	2	35	2	9237263
Pubmed	Physiological substrates for human lysosomal beta -hexosaminidase S.	HEXA HEXB	9.84e-07	2	35	2	11707436
Pubmed	Two mammalian glucosamine-6-phosphate deaminases: a structural and genetic study.	GNPDA1 GNPDA2	9.84e-07	2	35	2	12965206
Pubmed	Promoters for the human beta-hexosaminidase genes, HEXA and HEXB.	HEXA HEXB	9.84e-07	2	35	2	8634145
Pubmed	Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A.	HEXA HEXB	9.84e-07	2	35	2	8672428
Pubmed	[Molecular pathogenesis and therapeutic approach of GM2 gangliosidosis].	HEXA HEXB	9.84e-07	2	35	2	23370522
Pubmed	Liberation of N-acetylglucosamine-6-sulfate by human beta-N-acetylhexosaminidase A.	HEXA HEXB	9.84e-07	2	35	2	6458607
Pubmed	Investigating Immune Responses to the scAAV9-HEXM Gene Therapy Treatment in Tay-Sachs Disease and Sandhoff Disease Mouse Models.	HEXA HEXB	9.84e-07	2	35	2	34201771
Pubmed	Different expression of beta-N-acetylhexosaminidase in mouse tissues.	HEXA HEXB	9.84e-07	2	35	2	8147878
Pubmed	Novel bicistronic lentiviral vectors correct β-Hexosaminidase deficiency in neural and hematopoietic stem cells and progeny: implications for in vivo and ex vivo gene therapy of GM2 gangliosidosis.	HEXA HEXB	9.84e-07	2	35	2	31682993
Pubmed	Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases.	HEXA HEXB	9.84e-07	2	35	2	8789434
Pubmed	Cloning and functional characterization of GNPI2, a novel human homolog of glucosamine-6-phosphate isomerase/oscillin.	GNPDA1 GNPDA2	9.84e-07	2	35	2	12616532
Pubmed	Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay-Sachs disease.	HEXA HEXB	9.84e-07	2	35	2	8673609
Pubmed	Three novel mutations in Iranian patients with Tay-Sachs disease.	HEXA HEXB	9.84e-07	2	35	2	24518553
Pubmed	Bicistronic lentiviral vector corrects beta-hexosaminidase deficiency in transduced and cross-corrected human Sandhoff fibroblasts.	HEXA HEXB	9.84e-07	2	35	2	15953731
Pubmed	Proteolytic processing of pro-alpha and pro-beta precursors from human beta-hexosaminidase. Generation of the mature alpha and beta a beta b subunits.	HEXA HEXB	9.84e-07	2	35	2	2965147
Pubmed	Down-regulation of β-N-acetyl-D-glucosaminidase increases Akt1 activity in thyroid anaplastic cancer cells.	HEXA HEXB	9.84e-07	2	35	2	21637923
Pubmed	Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human beta-hexosaminidase.	HEXA HEXB	9.84e-07	2	35	2	2971395
Pubmed	Mice deficient in all forms of lysosomal beta-hexosaminidase show mucopolysaccharidosis-like pathology.	HEXA HEXB	9.84e-07	2	35	2	9184660
Pubmed	Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.	HEXA HEXB	9.84e-07	2	35	2	9302266
Pubmed	The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.	HEXA HEXB	9.84e-07	2	35	2	1825792
Pubmed	Identification of domains in human beta-hexosaminidase that determine substrate specificity.	HEXA HEXB	9.84e-07	2	35	2	8663217
Pubmed	Knock-down of HEXA and HEXB genes correlate with the absence of the immunostimulatory function of HSC-derived dendritic cells.	HEXA HEXB	9.84e-07	2	35	2	21997228
Pubmed	Mice lacking both subunits of lysosomal beta-hexosaminidase display gangliosidosis and mucopolysaccharidosis.	HEXA HEXB	9.84e-07	2	35	2	8896570
Pubmed	Plasma and peripheral leukocyte beta-N-acetylhexosaminidase isoenzymes and disease activity in rheumatoid arthritis.	HEXA HEXB	9.84e-07	2	35	2	12413610
Pubmed	A Pro504 --> Ser substitution in the beta-subunit of beta-hexosaminidase A inhibits alpha-subunit hydrolysis of GM2 ganglioside, resulting in chronic Sandhoff disease.	HEXA HEXB	9.84e-07	2	35	2	9694901
Pubmed	GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.	HEXA HEXB	9.84e-07	2	35	2	22789865
Pubmed	Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis.	HEXA HEXB	9.84e-07	2	35	2	16698036
Pubmed	Pediatric reference data on activity of urinary N-acetyl-β-D-hexosaminidase and its isoenzymes.	HEXA HEXB	9.84e-07	2	35	2	28846871
Pubmed	Accumulated α-synuclein affects the progression of GM2 gangliosidoses.	HEXA HEXB	9.84e-07	2	35	2	27453479
Pubmed	I. Abnormalities in cells of the testis, efferent ducts, and epididymis in juvenile and adult mice with beta-hexosaminidase A and B deficiency.	HEXA HEXB	9.84e-07	2	35	2	10591618
Pubmed	Association of alpha- and beta-subunits during the biosynthesis of beta-hexosaminidase in cultured human fibroblasts.	HEXA HEXB	9.84e-07	2	35	2	6230359
Pubmed	Biochemical consequences of mutations causing the GM2 gangliosidoses.	HEXA HEXB	9.84e-07	2	35	2	10571007
Pubmed	Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.	HEXA HEXB	9.84e-07	2	35	2	7959736
Pubmed	Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism.	HEXA HEXB	9.84e-07	2	35	2	7550345
Pubmed	Glycosphingolipid degradation and animal models of GM2-gangliosidoses.	HEXA HEXB	2.95e-06	3	35	2	9728335
Pubmed	Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes.	HEXA HEXB	2.95e-06	3	35	2	1054503
Pubmed	A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder.	HEXA HEXB	2.95e-06	3	35	2	10021458
Pubmed	Mouse model of GM2 activator deficiency manifests cerebellar pathology and motor impairment.	HEXA HEXB	2.95e-06	3	35	2	9223328
Pubmed	Characterization of the testis and epididymis in mouse models of human Tay Sachs and Sandhoff diseases and partial determination of accumulated gangliosides.	HEXA HEXB	2.95e-06	3	35	2	9645704
Pubmed	Hyaluronidase 1 and β-hexosaminidase have redundant functions in hyaluronan and chondroitin sulfate degradation.	HEXA HEXB	2.95e-06	3	35	2	22451654
Pubmed	Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.	HEXB SMPD1	5.90e-06	4	35	2	20616152
Pubmed	Chemical mutagenesis of a GPCR ligand: Detoxifying "inflammo-attraction" to direct therapeutic stem cell migration.	HEXA HEXB	5.90e-06	4	35	2	33219123
Pubmed	Glomerular and tubular damage markers are elevated in patients with diabetes.	HEXA HEXB	5.90e-06	4	35	2	21307379
Pubmed	Activity of lysosomal exoglycosidases in saliva of patients with HIV infection.	HEXA HEXB	9.82e-06	5	35	2	18217416
Pubmed	Neutral sphingomyelinase 2 deficiency increases hyaluronan synthesis by up-regulation of Hyaluronan synthase 2 through decreased ceramide production and activation of Akt.	SMPD1 MTOR	9.82e-06	5	35	2	22383528
Pubmed	Hexosamine biosynthesis in keratinocytes: roles of GFAT and GNPDA enzymes in the maintenance of UDP-GlcNAc content and hyaluronan synthesis.	GNPDA1 GNPDA2	9.82e-06	5	35	2	26887390
Pubmed	Animal models of lysosomal disease: an overview.	HEXA SMPD1	1.47e-05	6	35	2	9728334
Pubmed	Impaired selection of invariant natural killer T cells in diverse mouse models of glycosphingolipid lysosomal storage diseases.	HEXA HEXB	1.47e-05	6	35	2	16982810
Pubmed	Kidney sulfatides in mouse models of inherited glycosphingolipid disorders: determination by nano-electrospray ionization tandem mass spectrometry.	HEXA HEXB	1.47e-05	6	35	2	11919180
Pubmed	ESCPE-1 mediates retrograde endosomal sorting of the SARS-CoV-2 host factor Neuropilin-1.	HEXA HEXB USP34 CLPTM1L CERCAM PGAP4 SMPD1 PRSS21	2.02e-05	1201	35	8	35696571
Pubmed	HIV-1 Nef binds with human GCC185 protein and regulates mannose 6 phosphate receptor recycling.	HEXA HEXB	2.06e-05	7	35	2	27105913
Pubmed	Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice.	HEXA HEXB	2.06e-05	7	35	2	28728022
Pubmed	Systematically defining selective autophagy receptor-specific cargo using autophagosome content profiling.	HEXA HEXB CLPTM1L CERCAM NIPSNAP3A MTMR6 UBR4 PRSS21	3.51e-05	1297	35	8	33545068
Pubmed	Dynamics of major histocompatibility complex class II compartments during B cell receptor-mediated cell activation.	HEXA HEXB	5.38e-05	11	35	2	11854359
Pubmed	A high-throughput approach for measuring temporal changes in the interactome.	HEXA HEXB USP34 GNPDA1 FNTB MTOR GNPDA2 UBR4	7.89e-05	1455	35	8	22863883
Pubmed	Defining the membrane proteome of NK cells.	HEXA HEXB CLPTM1L EXOC1 MTOR UBR4 PAPOLG	1.40e-04	1168	35	7	19946888
Pubmed	An integrated genetic map of the pearl locus of mouse chromosome 13.	HEXB VCAN	1.66e-04	19	35	2	8828042
Pubmed	Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.	HEXA NIPSNAP3A RCOR3 MTOR VCAN GNPDA2 ZFP91	2.60e-04	1293	35	7	15342556
Pubmed	Protein interactome mining defines melatonin MT1 receptors as integral component of presynaptic protein complexes of neurons.	USP34 MTMR6 EXOC1 UBR4	3.01e-04	322	35	4	26514267
Pubmed	Human neutrophils secrete bioactive paucimannosidic proteins from azurophilic granules into pathogen-infected sputum.	HEXA HEXB	4.49e-04	31	35	2	25645918
Pubmed	Developmental changes of glycosphingolipids and expression of glycogenes in mouse brains.	HEXA HEXB	4.79e-04	32	35	2	17883393
Pubmed	KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and lysosome-mediated degradation.	NIPSNAP3A UBR4	5.09e-04	33	35	2	25582440
Pubmed	A dual-activity topoisomerase complex regulates mRNA translation and turnover.	HEXA USP34 SPATA20 FNTB MTOR UBR4	7.48e-04	1105	35	6	35748872
Pubmed	Proximity-dependent biotin identification (BioID) reveals a dynamic LSD1-CoREST interactome during embryonic stem cell differentiation.	USP34 RCOR3 RBM11 UBR4	8.02e-04	418	35	4	34709266
Pubmed	Targeting RICTOR Sensitizes SMAD4-Negative Colon Cancer to Irinotecan.	TFCP2L1 GNPDA1 MTOR	8.29e-04	183	35	3	31932471
Pubmed	Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.	PCBD2 MTMR6 FBXW10 TIPARP CFAP46	8.74e-04	750	35	5	11230166
Cytoband	9q31.1	NIPSNAP3A PGAP4	4.54e-04	41	35	2	9q31.1
ToppCell	Substantia_nigra-Neuronal-Inhibitory-iN1(Gad1Gad2_Th)-Th\|Substantia_nigra / BrainAtlas - Mouse McCarroll V32	CLPTM1L CERCAM TFCP2L1 FAM135B	8.56e-06	166	35	4	6a6ed5c7a43fee9a8a9be42dfa99303815b8e8ef
ToppCell	368C-Lymphocytic-CD8+_Cytotoxic_T-cell-CD8+_Cytotoxic_T_cell_0\|Lymphocytic / Donor, Lineage, Cell class and subclass (all cells)	NIPSNAP3A SPATA20 GNPDA1 ANGEL1	1.31e-05	185	35	4	7925519b855f76444a0b57382ce35d89457b0b14
Computational	Genes in the cancer module 346.	HEXA HEXB SMPD1	2.64e-06	17	18	3	MODULE_346
Computational	Genes in the cancer module 492.	HEXA HEXB	3.55e-04	17	18	2	MODULE_492
Computational	Genes in the cancer module 408.	HEXB SMPD1	3.99e-04	18	18	2	MODULE_408
Drug	AC1Q6XL6	HEXA HEXB SMPD1 VCAN	7.40e-07	49	33	4	CID000014445
Drug	PNP-GlcNAc-6-SO4	HEXA HEXB	2.04e-06	2	33	2	CID000133365
Drug	AC1L9R2Z	HEXA HEXB GNPDA1 MTOR GNPDA2	4.14e-06	168	33	5	CID000453624
Drug	PNP-(GlcNAc)5	HEXA HEXB	6.11e-06	3	33	2	CID003081071
Drug	farnesane	HEXA HEXB	6.11e-06	3	33	2	CID000019773
Drug	methionine methyl ester	HEXA HEXB	1.22e-05	4	33	2	CID000064684
Drug	triphenylacetic acid	HEXA HEXB	1.22e-05	4	33	2	CID000068992
Drug	CHBZ	HEXA HEXB	1.22e-05	4	33	2	CID000054550
Drug	ADSN deriv.	HEXA HEXB	1.22e-05	4	33	2	CID006451109
Drug	oxyphyllol A	HEXA HEXB	1.22e-05	4	33	2	CID000637451
Drug	malathion monoacid	HEXA HEXB	1.22e-05	4	33	2	CID003032927
Drug	NP-009007	HEXA HEXB	1.22e-05	4	33	2	CID011390848
Drug	rabdosiin	HEXA HEXB	1.22e-05	4	33	2	CID000471121
Drug	diglycolamine	HEXA HEXB	1.22e-05	4	33	2	CID000013578
Drug	2-amino-2-deoxy-D-glucitol 6-phosphate	GNPDA1 GNPDA2	1.22e-05	4	33	2	CID000001554
Drug	AC1NT0TY	HEXA HEXB	1.22e-05	4	33	2	CID005321775
Drug	glucose-6-P	HEXA HEXB PCBD2 SMPD1 VCAN PAPOLG	1.27e-05	366	33	6	CID000000208
Drug	myricanol	HEXA HEXB	2.03e-05	5	33	2	CID000161779
Drug	myricanone	HEXA HEXB	2.03e-05	5	33	2	CID000161748
Drug	hydroxyachillin	HEXA HEXB	2.03e-05	5	33	2	CID000099114
Drug	3-trimethylsilylpropionate	HEXA HEXB SMPD1	2.08e-05	37	33	3	CID000079764
Drug	tetra-N-acetylchitotetraose	HEXA HEXB	3.04e-05	6	33	2	CID003081988
Drug	cyclic oxamide	HEXA HEXB	3.04e-05	6	33	2	CID000468476
Drug	X1207	HEXA HEXB	3.04e-05	6	33	2	CID000084718
Drug	psoralidin	HEXA HEXB	3.04e-05	6	33	2	CID005281806
Drug	ManNAc-6-P	MTMR6 GNPDA1 GNPDA2	3.06e-05	42	33	3	CID000000898
Drug	dN x	HEXA HEXB	4.26e-05	7	33	2	CID000011348
Drug	leucodin	HEXA HEXB	4.26e-05	7	33	2	CID000167683
Drug	threosaminitol	HEXA HEXB	5.67e-05	8	33	2	CID000191652
Drug	AC1NSTU6	HEXA HEXB	5.67e-05	8	33	2	CID005316082
Drug	AC1NSVJM	HEXA HEXB	5.67e-05	8	33	2	CID005317411
Drug	Flunarizine	HEXA HEXB	5.67e-05	8	33	2	ctd:D005444
Drug	D-glucosamine-6P	GNPDA1 GNPDA2	5.67e-05	8	33	2	CID000121988
Drug	yomogin	HEXA HEXB	7.29e-05	9	33	2	CID000174865
Drug	AC1L1CTV	HEXA HEXB	7.29e-05	9	33	2	CID000027255
Drug	AC1Q6X1Y	SMPD1 MTOR	7.29e-05	9	33	2	CID000062500
Drug	selinan	HEXA HEXB	7.29e-05	9	33	2	CID000035524
Drug	AC1MIWV3	HEXA HEXB	9.10e-05	10	33	2	CID003081404
Drug	bitertanol	HEXA HEXB	9.10e-05	10	33	2	CID000091656
Drug	beta-GlcNAc-(1 --> 4)-beta-GlcNAc	HEXA HEXB GNPDA1	1.30e-04	68	33	3	CID000439326
Drug	ethanedithiol	GNPDA1 GNPDA2	1.33e-04	12	33	2	CID000033645
Drug	Man2GlcNAc2	HEXA HEXB	1.33e-04	12	33	2	CID003080957
Drug	AS-35	HEXA HEXB	1.33e-04	12	33	2	CID000130135
Drug	nicotinoylprocaine	HEXA HEXB	1.33e-04	12	33	2	CID000159667
Drug	AC1L1DSW	HEXB SMPD1 DBR1	1.42e-04	70	33	3	CID000002493
Drug	rhapontigenin	HEXA HEXB	1.57e-04	13	33	2	CID005320954
Drug	pyridaben	HEXA HEXB	1.57e-04	13	33	2	CID000091754
Drug	Mibefradil	HEXA HEXB	1.57e-04	13	33	2	ctd:D020748
Drug	Pralidoxime chloride [51-15-0]; Down 200; 23.2uM; HL60; HT_HG-U133A	PGAP4 VCAN UBR4 ANGEL1	1.79e-04	196	33	4	3066_DN
Drug	methidathion	HEXA SMPD1	1.83e-04	14	33	2	CID000013709
Drug	AC1Q6JQD	HEXA HEXB	1.83e-04	14	33	2	CID000124337
Drug	benzimidazol-2-one	HEXA HEXB	1.83e-04	14	33	2	CID000162542
Drug	Galalpha3Galbeta4Glcbeta1Cer	HEXA HEXB	1.83e-04	14	33	2	CID005497158
Drug	UDP-N-acetylglucosamine	HEXA HEXB GNPDA1 GNPDA2	2.05e-04	203	33	4	CID000001167
Drug	A-G-T-C	HEXA HEXB	2.11e-04	15	33	2	CID003037868
Drug	6'-sialyllactose	HEXA HEXB	2.41e-04	16	33	2	CID000643987
Drug	glucosaminitol	GNPDA1 GNPDA2	2.41e-04	16	33	2	CID000189022
Drug	norsolorinic acid	HEXA HEXB	2.73e-04	17	33	2	CID000025102
Drug	terbuthylazine	HEXA SMPD1	3.07e-04	18	33	2	CID000022206
Drug	NSC-343257	HEXA HEXB SMPD1 VCAN	3.19e-04	228	33	4	CID000004242
Drug	8a beta-indolizidine-1 alpha, 2 alpha, 8 beta-triol	HEXA HEXB SMPD1	3.40e-04	94	33	3	CID000005363
Drug	endosulfan sulfate	HEXA SMPD1	3.43e-04	19	33	2	CID000013940
Drug	4MUGS	HEXA HEXB	3.43e-04	19	33	2	CID000125064
Drug	chitotetraose	HEXA HEXB	4.20e-04	21	33	2	CID003080615
Drug	AC1L42QD	HEXA HEXB SMPD1	4.57e-04	104	33	3	CID000177413
Drug	1-aminoethyl	SMPD1 ZFP91	4.62e-04	22	33	2	CID006432309
Drug	PBDE	HEXA MTOR	5.06e-04	23	33	2	CID000036159
Disease	Ashkenazi Jewish disorders	HEXA SMPD1	6.23e-05	11	32	2	cv:CN118946
Disease	cervical cancer	CLPTM1L MTOR	6.25e-04	34	32	2	C4048328
Disease	Uterine Cervical Neoplasm	CLPTM1L MTOR	6.63e-04	35	32	2	C0007873
Disease	immunoglobulin isotype switching measurement	UBR4 PAPOLG	1.05e-03	44	32	2	EFO_0010128
Disease	S-warfarin to R-warfarin ratio measurement	NIPSNAP3A FNTB	4.78e-03	95	32	2	EFO_0803331
Disease	response to antineoplastic agent	TFCP2L1 UBR4	5.18e-03	99	32	2	GO_0097327

Protein segments in the cluster

Peptide	Gene	Start	Entry
ENKYFHNMQFWHVLA	ANO5	816	Q75V66
HDYQWIGLNDKMFEH	VCAN	3221	P13611
MQLFQTFWFLYHKGH	SMPD1	566	P17405
SNVLMFQFEHIKWQY	FBXW10	676	Q5XX13
FNVSYALHLWNHMNQ	A4GNT	281	Q9UNA3
QKVEYLMEFGQWLHH	CFAP46	1216	Q8IYW2
YNVEQALGMLFWHKH	RCOR3	56	Q9P2K3
QEYFLFQKMQWHVYN	RBM11	136	P57052
MNTVFHIWKYDNFAH	NIPSNAP3A	81	Q9UFN0
KMNHHPEWFNVYNKV	PCBD2	86	Q9H0N5
FMMWNNHYILHNSFF	TIPARP	381	Q7Z3E1
HSFMWNNFFKHIDIH	GNPDA1	86	P46926
NTVSFNFKFWRNMYH	MTMR6	486	Q9Y217
NFKFWRNMYHQFDRT	MTMR6	491	Q9Y217
FYLRHWHLNQMSQEF	PGAP4	51	Q9BRR3
HHKDNNYVSMWFLGI	PAPOLG	426	Q9BWT3
HSYMWNNFFKHIDID	GNPDA2	86	Q8TDQ7
SHWMFHQQALQEYIL	FNTB	326	P49356
YWFSAHLHVKFAALM	DBR1	221	Q9UK59
VWHSMQDEFIRQYKH	EXOC1	846	Q9NV70
FYITSENCMQHAHKW	FAM135B	226	Q49AJ0
MFDQHPNEQYKAHFW	CERCAM	506	Q5T4B2
HNVDAFWNFMLFLQK	FAM237B	66	A0A1B0GVD1
HYNVFLNIAQDFWDM	FAM237B	86	A0A1B0GVD1
MAFNKFNVLHWHIVD	HEXB	226	P07686
HAWAVMNFEAVLHYK	MTOR	1791	P42345
DVMAYNKLNVFHWHL	HEXA	191	P06865
RFAEAMYNAFWNHLK	TCP11X1	81	B4DZS4
KLQQFFNWHMFVLEQ	MYH15	496	Q9Y2K3
MLFWHTQPEHYNQHN	TFCP2L1	1	Q9NZI6
NYRFVNLMQEFQHWD	ANGEL1	276	Q9UNK9
FWIHMQDAVYSLQQF	CLPTM1L	251	Q96KA5
WHVPHFEKMLYDQAQ	SPATA20	326	Q8TB22
YTNISHHFEWIQKLM	PRSS21	271	Q9Y6M0
NWHMKKHDADSFYQF	ZFP91	416	Q96JP5
DKNIFEHTYFGFMWQ	USP34	2271	Q70CQ2
ITQKEFMNQHWYHCH	UBR4	1666	Q5T4S7