HEXA (hexosaminidase subunit alpha) - Rat Genome Database

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Gene: HEXA (hexosaminidase subunit alpha) Homo sapiens
Analyze
Symbol: HEXA
Name: hexosaminidase subunit alpha
RGD ID: 1352150
HGNC Page HGNC:4878
Description: Enables acetylglucosaminyltransferase activity; beta-N-acetylhexosaminidase activity; and protein heterodimerization activity. Involved in ganglioside catabolic process and glycosaminoglycan biosynthetic process. Located in azurophil granule and cytosol. Part of beta-N-acetylhexosaminidase complex. Implicated in Tay-Sachs disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: beta-hexosaminidase subunit alpha; beta-N-acetylhexosaminidase subunit alpha; hexosaminidase A (alpha polypeptide); hexosaminidase subunit A; MGC99608; N-acetyl-beta-glucosaminidase subunit alpha; TSD
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381572,340,924 - 72,376,014 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1572,340,924 - 72,376,420 (-)EnsemblGRCh38hg38GRCh38
GRCh371572,633,265 - 72,668,355 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361570,422,832 - 70,455,457 (-)NCBINCBI36Build 36hg18NCBI36
Build 341570,422,832 - 70,455,393NCBI
Celera1549,521,918 - 49,554,688 (-)NCBICelera
Cytogenetic Map15q23NCBI
HuRef1549,466,005 - 49,498,776 (-)NCBIHuRef
CHM1_11572,753,786 - 72,786,527 (-)NCBICHM1_1
T2T-CHM13v2.01570,157,399 - 70,192,818 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
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Original Reference(s)
HEXAHumanTay-Sachs disease  ISORGD:1070713673908 RGD 
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Original Reference(s)
HEXAHumanBloom syndrome  IAGPRGD:1267360388554872ClinVar Annotator: match by term: Bloom syndromeClinVarPMID:28492532
HEXAHumanBrugada syndrome 8  IAGPRGD:268905748554872ClinVar Annotator: match by term: Brugada syndrome 8ClinVarPMID:28492532
HEXAHumancolorectal cancer  IAGPRGD:1267360388554872ClinVar Annotator: match by term: Familial colorectal cancerClinVarPMID:28492532
HEXAHumanDevelopmental Disabilities  IAGPRGD:85577618554872ClinVar Annotator: match by term: Global developmental delayClinVarPMID:1318511|PMID:16088929|PMID:17015493|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18490185|PMID:20100466|PMID:20301350|PMID:2137287|PMID:22441121|PMID:22789865|PMID:23359698|PMID:24953648|PMID:25041270|PMID:2521932|PMID:25741868|PMID:25741876|PMID:28359061|PMID:28492532|PMID:2961848|PMID:2973311|PMID:7551830|PMID:8730294
HEXAHumangenetic disease  IAGPRGD:137845048554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:11317368|PMID:24498621|PMID:24583203|PMID:28492532
HEXAHumangenetic disease  IAGPRGD:85577858554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:1301938|PMID:1307230|PMID:1384323|PMID:1387685|PMID:16199547|PMID:17015493|PMID:17237499|PMID:1833974|PMID:1837283|PMID:19858779|PMID:21228398|PMID:22344438|PMID:22789865|PMID:22975760|PMID:24088041|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:33426165|PMID:8326491|PMID:8444467|PMID:8490625
HEXAHumangenetic disease  IAGPRGD:85577558554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:10571007|PMID:11463833|PMID:1301938|PMID:1307230|PMID:14727180|PMID:16088929|PMID:16352452|PMID:1830584|PMID:1833974|PMID:20301397|PMID:20672374|PMID:21228398|PMID:22441121|PMID:22723944|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23852624|PMID:24033266|PMID:24374108|PMID:24518553|PMID:24940364|PMID:25287655|PMID:25557439|PMID:25741868|PMID:26467025|PMID:27033294|PMID:27896118|PMID:27959697|PMID:2824459|PMID:2848800|PMID:28492532|PMID:28503624|PMID:30609409|PMID:31076878|PMID:33083013|PMID:33240792|PMID:34554397|PMID:35848209|PMID:36135330|PMID:8230592|PMID:8352284|PMID:8488832|PMID:8490625
HEXAHumangenetic disease  IAGPRGD:11633478|RGD:126770863|RGD:127262714|RGD:127265454|RGD:127291076|RGD:127330784|RGD:13497779|RGD:13784335|RGD:14717419|RGD:15115002|RGD:15121944|RGD:15134641|RGD:15152528|RGD:152062493|RGD:152154506|RGD:152168570|RGD:155672547|RGD:155683529|RGD:155711785|RGD:155714716|RGD:155798054|RGD:155963955|RGD:156007613|RGD:156027013|RGD:156027067|RGD:156117986|RGD:156119180|RGD:156159666|RGD:1563559738554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
HEXAHumangenetic disease  IAGPRGD:11547303|RGD:11632944|RGD:15155571|RGD:155946341|RGD:1563751478554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868|PMID:28492532
HEXAHumangenetic disease  IAGPRGD:85577898554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:10083731|PMID:1302612|PMID:14577003|PMID:16088929|PMID:17259242|PMID:18490185|PMID:22723944|PMID:24518553|PMID:24940364|PMID:25741868|PMID:28492532|PMID:33751187|PMID:7858168|PMID:8490625|PMID:8995368|PMID:9169471|PMID:9272736
HEXAHumangenetic disease  IAGPRGD:85743248554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:20363167|PMID:22789865|PMID:24767253|PMID:25606403|PMID:25741868|PMID:28492532
HEXAHumangenetic disease  IAGPRGD:155680249|RGD:155687978|RGD:155708338|RGD:155718420|RGD:155991697|RGD:156083776|RGD:156237518|RGD:401761237|RGD:405803284|RGD:405803286|RGD:405803288|RGD:407521823|RGD:407521825|RGD:4075218288554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
HEXAHumangenetic disease  IAGPRGD:214061198554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25741868|PMID:26467025|PMID:28492532|PMID:9401008
HEXAHumangenetic disease  IAGPRGD:85577578554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:11707436|PMID:1301190|PMID:16088929|PMID:16698036|PMID:17259242|PMID:18490185|PMID:25741868|PMID:27682588|PMID:28492532|PMID:2970528|PMID:31069529|PMID:31367523|PMID:32529985|PMID:34288098|PMID:34800199|PMID:6959123|PMID:7858168|PMID:8123671|PMID:8328462|PMID:8490625|PMID:8672428|PMID:8673609|PMID:9090523|PMID:9338583|PMID:9603435|PMID:9694901
HEXAHumangenetic disease  IAGPRGD:85577648554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:12202988|PMID:1301938|PMID:14566483|PMID:14577003|PMID:16948947|PMID:17015493|PMID:17237499|PMID:1833974|PMID:18490185|PMID:19091716|PMID:2140574|PMID:2144098|PMID:22441121|PMID:24498621|PMID:24767253|PMID:25557439|PMID:25741868|PMID:28492532|PMID:29214523|PMID:31367523|PMID:8490625
HEXAHumangenetic disease  IAGPRGD:85577808554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:14566483|PMID:14577003|PMID:1532289|PMID:16088929|PMID:17015493|PMID:17237499|PMID:18490185|PMID:22789865|PMID:28492532|PMID:8490625
HEXAHumangenetic disease  IAGPRGD:85577638554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:10852376|PMID:1483696|PMID:15714079|PMID:17576681|PMID:18490185|PMID:19815695|PMID:20363167|PMID:21228398|PMID:2145759|PMID:22006919|PMID:2278539|PMID:22975760|PMID:2522660|PMID:2522679|PMID:25741868|PMID:27033294|PMID:27682588|PMID:28492532|PMID:31076878|PMID:6236221|PMID:8328462|PMID:8343225|PMID:9536098
HEXAHumangenetic disease  IAGPRGD:85577618554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:1318511|PMID:16088929|PMID:17015493|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18490185|PMID:20100466|PMID:20301350|PMID:2137287|PMID:22441121|PMID:22789865|PMID:23359698|PMID:24953648|PMID:25041270|PMID:2521932|PMID:25741868|PMID:25741876|PMID:28359061|PMID:28492532|PMID:2961848|PMID:2973311|PMID:7551830|PMID:8730294
HEXAHumangenetic disease  IAGPRGD:137858528554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:16199547|PMID:1833974|PMID:1837283|PMID:28492532|PMID:34554397|PMID:8490625
HEXAHumangenetic disease  IAGPRGD:137869808554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:1415222|PMID:16698036|PMID:28492532
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Original Reference(s)
HEXAHumanintellectual disability  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:21937992
HEXAHumanTay-Sachs disease  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:11392526
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Original Reference(s)
HEXAHumanTay-Sachs disease  ISSRGD:1070713592920OMIM:272800MouseDO 
Object Symbol
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Original Reference(s)
HEXAHumanTay-Sachs disease  IAGP 7240710 OMIM 

1 to 20 of 112 rows

  
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Original Reference(s)
HEXAHuman(+)-schisandrin B multiple interactionsISORGD:27926480464schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of HEXA mRNA]CTDPMID:31150632
HEXAHuman(1->4)-beta-D-glucan multiple interactionsISORGD:107076480464[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of HEXA mRNACTDPMID:36331819
HEXAHuman1,1-dichloroethene increases expressionISORGD:107076480464vinylidene chloride results in increased expression of HEXA mRNACTDPMID:26682919
HEXAHuman1,2-dimethylhydrazine multiple interactionsISORGD:107076480464[1,2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of HEXA mRNACTDPMID:22206623
HEXAHuman1-chloro-2,4-dinitrobenzene affects bindingEXP 6480464Dinitrochlorobenzene binds to HEXA proteinCTDPMID:32991956
HEXAHuman17alpha-ethynylestradiol decreases expressionISORGD:27926480464Ethinyl Estradiol results in decreased expression of HEXA mRNACTDPMID:16174780
HEXAHuman17alpha-ethynylestradiol decreases expressionISORGD:107076480464Ethinyl Estradiol results in decreased expression of HEXA mRNACTDPMID:16174780|PMID:17555576
HEXAHuman17beta-estradiol decreases expressionISORGD:107076480464Estradiol results in decreased expression of HEXA mRNACTDPMID:39298647
HEXAHuman2,2',4,4'-Tetrabromodiphenyl ether multiple interactionsISORGD:107076480464[Flame Retardants results in increased abundance of 2,2',4,4'-tetrabromodiphenyl ether] which results in increased expression of more ...CTDPMID:38995820
HEXAHuman2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISORGD:107076480464[Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of HEXA mRNACTDPMID:16214954
HEXAHuman2,3,7,8-tetrachlorodibenzodioxine increases expressionISORGD:27926480464Tetrachlorodibenzodioxin results in increased expression of HEXA mRNACTDPMID:33387578
HEXAHuman2,3,7,8-tetrachlorodibenzodioxine affects expressionISORGD:27926480464Tetrachlorodibenzodioxin affects the expression of HEXA mRNACTDPMID:34747641
HEXAHuman2,3,7,8-tetrachlorodibenzodioxine affects expressionISORGD:107076480464Tetrachlorodibenzodioxin affects the expression of HEXA mRNACTDPMID:20702594|PMID:21570461
HEXAHuman2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISORGD:27926480464Flunarizine inhibits the reaction [Tetrachlorodibenzodioxin results in increased secretion of [HEXB protein binds to HEXA more ...CTDPMID:19546254
HEXAHuman2,3,7,8-tetrachlorodibenzodioxine increases expressionISORGD:107076480464Tetrachlorodibenzodioxin results in increased expression of HEXA mRNACTDPMID:18796159
HEXAHuman2,3,7,8-Tetrachlorodibenzofuran affects expressionISORGD:1070764804642,3,7,8-tetrachlorodibenzofuran affects the expression of HEXA mRNACTDPMID:20702594
HEXAHuman2,4-dinitrotoluene affects expressionISORGD:279264804642,4-dinitrotoluene affects the expression of HEXA mRNACTDPMID:21346803
HEXAHuman3-chloropropane-1,2-diol increases expressionISORGD:27926480464alpha-Chlorohydrin results in increased expression of HEXA mRNACTDPMID:28522335
HEXAHuman3-isobutyl-1-methyl-7H-xanthine multiple interactionsEXP 6480464[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] more ...CTDPMID:28628672
HEXAHuman4,4'-diaminodiphenylmethane decreases expressionISORGD:1070764804644,4'-diaminodiphenylmethane results in decreased expression of HEXA mRNACTDPMID:18648102

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Biological Process
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Original Reference(s)
HEXAHumanadult walking behavior acts_upstream_of_or_withinIEAUniProtKB:P29416|ensembl:ENSMUSP00000026262150520179 EnsemblGO_REF:0000107
HEXAHumancarbohydrate derivative metabolic process involved_inIEAARBA:ARBA00026297150520179 UniProtGO_REF:0000117
HEXAHumancarbohydrate metabolic process involved_inIEAInterPro:IPR015883|InterPro:IPR025705150520179 InterProGO_REF:0000002
HEXAHumancell morphogenesis involved in neuron differentiation acts_upstream_of_or_withinIEAUniProtKB:P29416|ensembl:ENSMUSP00000026262150520179 EnsemblGO_REF:0000107
HEXAHumandermatan sulfate proteoglycan catabolic process involved_inIEAUniProtKB:P29416|ensembl:ENSMUSP00000026262150520179 EnsemblGO_REF:0000107
HEXAHumanganglioside catabolic process involved_inIBAMGI:96073|MGI:96074|PANTHER:PTN001097938|UniProtKB:P06865|UniProtKB:P07686150520179 GO_CentralGO_REF:0000033
HEXAHumanganglioside catabolic process acts_upstream_of_or_withinIEAUniProtKB:P29416|ensembl:ENSMUSP00000026262150520179 EnsemblGO_REF:0000107
HEXAHumanganglioside catabolic process involved_inIDA 150520179 PMID:8123671, PMID:8672428, PMID:9694901UniProtPMID:8123671|PMID:8672428|PMID:9694901
HEXAHumanglycosaminoglycan biosynthetic process involved_inIDA 150520179 PMID:25645918UniProtPMID:25645918
HEXAHumanglycosaminoglycan metabolic process acts_upstream_of_or_withinISOMGI:960749068941 PMID:8896570MGIPMID:8896570
HEXAHumanglycosaminoglycan metabolic process involved_inIBAMGI:96073|MGI:96074|PANTHER:PTN000503239|UniProtKB:P06865|UniProtKB:P07686150520179 GO_CentralGO_REF:0000033
HEXAHumanglycosaminoglycan metabolic process involved_inIDA 150520179 PMID:11707436, PMID:25645918ComplexPortalPMID:11707436|PMID:25645918
HEXAHumanglycosaminoglycan metabolic process involved_inIEAUniProtKB:P29416|ensembl:ENSMUSP00000026262150520179 EnsemblGO_REF:0000107
HEXAHumanhyaluronan catabolic process involved_inIEAUniProtKB:P29416|ensembl:ENSMUSP00000026262150520179 EnsemblGO_REF:0000107
HEXAHumanlipid metabolic process involved_inIEAUniProtKB-KW:KW-0443150520179 UniProtGO_REF:0000043
HEXAHumanlipid storage acts_upstream_of_or_withinIEAUniProtKB:P29416|ensembl:ENSMUSP00000026262150520179 EnsemblGO_REF:0000107
HEXAHumanlocomotory behavior acts_upstream_of_or_withinIEAUniProtKB:P29416|ensembl:ENSMUSP00000026262150520179 EnsemblGO_REF:0000107
HEXAHumanlysosome organization acts_upstream_of_or_withinIEAUniProtKB:P29416|ensembl:ENSMUSP00000026262150520179 EnsemblGO_REF:0000107
HEXAHumanmyelination acts_upstream_of_or_withinIEAUniProtKB:P29416|ensembl:ENSMUSP00000026262150520179 EnsemblGO_REF:0000107
HEXAHumanN-glycan processing involved_inIBAPANTHER:PTN000503240|TAIR:locus:2034147|TAIR:locus:2100706150520179 GO_CentralGO_REF:0000033
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Cellular Component
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Original Reference(s)
HEXAHumanazurophil granule located_inIDA 150520179 PMID:25645918UniProtPMID:25645918
HEXAHumanbeta-N-acetylhexosaminidase complex part_ofIPI 150520179 PMID:16698036ComplexPortalPMID:16698036
HEXAHumanbeta-N-acetylhexosaminidase complex part_ofIDA 150520179 PMID:11707436ComplexPortalPMID:11707436
HEXAHumancytosol located_inIDA 150520179 HPAGO_REF:0000052
HEXAHumanextracellular exosome located_inHDA 150520179 PMID:23533145UniProtPMID:23533145
HEXAHumanlysosomal lumen located_inNAS 150520179 PMID:6458607ComplexPortalPMID:6458607
HEXAHumanlysosomal lumen located_inTAS 150520179 ReactomeReactome:R-HSA-1605595|Reactome:R-HSA-1605632|Reactome:R-HSA-1638053|Reactome:R-HSA-2105001|Reactome:R-HSA-2162225|Reactome:R-HSA-3656259|Reactome:R-HSA-9035976|Reactome:R-HSA-9035978|Reactome:R-HSA-9840833|Reactome:R-HSA-9840884
HEXAHumanlysosome located_inIEAUniProtKB-KW:KW-0458150520179 UniProtGO_REF:0000043
HEXAHumanlysosome located_inIEAUniProtKB:P29416|ensembl:ENSMUSP00000026262150520179 EnsemblGO_REF:0000107
HEXAHumanlysosome located_inIEAUniProtKB-SubCell:SL-0158150520179 UniProtGO_REF:0000044
HEXAHumanlysosome is_active_inIBAMGI:96073|MGI:96074|PANTHER:PTN001097942|UniProtKB:P06865|UniProtKB:P07686150520179 GO_CentralGO_REF:0000033
HEXAHumanmembrane located_inIEAUniProtKB:P29416|ensembl:ENSMUSP00000026262150520179 EnsemblGO_REF:0000107
HEXAHumanmembrane is_active_inIBAFB:FBgn0041629|FB:FBgn0041630|FB:FBgn0045063|MGI:96073|MGI:96074|PANTHER:PTN000503239|TAIR:locus:2031988|TAIR:locus:2034147150520179 GO_CentralGO_REF:0000033
HEXAHumanmembrane located_inHDA 150520179 PMID:19946888UniProtPMID:19946888
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Molecular Function
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HEXAHumanacetylglucosaminyltransferase activity enablesIDA 150520179 PMID:25645918UniProtPMID:25645918
HEXAHumanbeta-N-acetylhexosaminidase activity enablesIEAUniProtKB:P29416|ensembl:ENSMUSP00000026262150520179 EnsemblGO_REF:0000107
HEXAHumanbeta-N-acetylhexosaminidase activity enablesIEAEC:3.2.1.52150520179 UniProtGO_REF:0000003
HEXAHumanbeta-N-acetylhexosaminidase activity enablesIBACGD:CAL0000184371|FB:FBgn0041629|FB:FBgn0041630|FB:FBgn0045063|MGI:96073|MGI:96074|PANTHER:PTN000503239|RGD:1307607|TAIR:locus:2031988|TAIR:locus:2034147|TAIR:locus:2100706|UniProtKB:G5EB27|UniProtKB:P06865|UniProtKB:P07686|WB:WBGene00020509|dictyBase:DDB_G0287033150520179 GO_CentralGO_REF:0000033
HEXAHumanbeta-N-acetylhexosaminidase activity enablesIEAARBA:ARBA00027806150520179 UniProtGO_REF:0000117
HEXAHumanbeta-N-acetylhexosaminidase activity enablesTAS 150520179 ReactomeReactome:R-HSA-3656259|Reactome:R-HSA-9035976|Reactome:R-HSA-9035978
HEXAHumanbeta-N-acetylhexosaminidase activity enablesIDA 150520179 PMID:8123671, PMID:8672428, PMID:9694901UniProtPMID:8123671|PMID:8672428|PMID:9694901
HEXAHumanbeta-N-acetylhexosaminidase activity enablesIEAInterPro:IPR025705150520179 InterProGO_REF:0000002
HEXAHumanhydrolase activity enablesIEAUniProtKB-KW:KW-0378150520179 UniProtGO_REF:0000043
HEXAHumanhydrolase activity, acting on glycosyl bonds enablesIEAUniProtKB-KW:KW-0326150520179 UniProtGO_REF:0000043
HEXAHumanhydrolase activity, hydrolyzing O-glycosyl compounds enablesIEAInterPro:IPR015883150520179 InterProGO_REF:0000002
HEXAHumanprotein binding enablesIPIUniProtKB:P07686150520179 PMID:16698036, PMID:28514442, PMID:33961781IntActPMID:16698036|PMID:28514442|PMID:33961781
HEXAHumanprotein heterodimerization activity enablesIDA 150520179 PMID:6230359MGIPMID:6230359
1 to 13 of 13 rows

Imported Annotations - SMPDB

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
HEXAHumanamino sugar metabolic pathway  EXP 10402751 SMPDBSMP:00045
HEXAHumanfrench type sialuria pathway  EXP 10402751 SMPDBSMP:00217
HEXAHumanfrench type sialuria pathway  EXP 10402751 SMPDBSMP:00216
HEXAHumansialic acid storage disease pathway  EXP 10402751 SMPDBSMP:00240
HEXAHumanTay-Sachs disease pathway  EXP 10402751 SMPDBSMP:00390

Imported Annotations - KEGG (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
HEXAHumanamino sugar metabolic pathway  IEA 6907045 KEGGhsa:00520
HEXAHumanganglioside metabolic pathway  IEA 6907045 KEGGhsa:00604
HEXAHumangloboside metabolic pathway  IEA 6907045 KEGGhsa:00603
HEXAHumannucleotide sugar metabolic pathway  IEA 6907045 KEGGhsa:00520
1 to 16 of 16 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
HEXAHumanApathy  IAGP 8699517 HPOMIM:272800
HEXAHumanAspiration  IAGP 8699517 HPOMIM:272800
HEXAHumanAutosomal recessive inheritance  IAGP 8699517 HPOMIM:272800
HEXAHumanBlindness  IAGP 8699517 HPOMIM:272800
HEXAHumanCherry red spot of the macula  IAGP 8699517 HPOMIM:272800
HEXAHumanDementia  IAGP 8699517 HPOMIM:272800
HEXAHumanExaggerated startle response  IAGP 8699517 HPOMIM:272800
HEXAHumanGeneralized hypotonia  IAGP 8699517 HPOMIM:272800
HEXAHumanGM2-ganglioside accumulation  IAGP 8699517 HPOMIM:272800
HEXAHumanHypertonia  IAGP 8699517 HPOMIM:272800
HEXAHumanHypotonia  IAGP 8699517 HPOMIM:272800
HEXAHumanInfantile onset  IAGP 8699517 HPOMIM:272800
HEXAHumanPallor  IAGP 8699517 HPOMIM:272800
HEXAHumanPoor head control  IAGP 8699517 HPOMIM:272800
HEXAHumanPsychomotor deterioration  IAGP 8699517 HPOMIM:272800
HEXAHumanSeizure  IAGP 8699517 HPOMIM:272800
1 to 16 of 16 rows
1 to 20 of 1118 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
HEXAHumanGlobal developmental delay  IAGPRGD:85577618554872ClinVar Annotator: match by term: Global developmental delayClinVarPMID:1318511|PMID:16088929|PMID:17015493|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18490185|PMID:20100466|PMID:20301350|PMID:2137287|PMID:22441121|PMID:22789865|PMID:23359698|PMID:24953648|PMID:25041270|PMID:2521932|PMID:25741868|PMID:25741876|PMID:28359061|PMID:28492532|PMID:2961848|PMID:2973311|PMID:7551830|PMID:8730294
HEXAHumanGM2-ganglioside accumulation  IAGPRGD:1557949078554872ClinVar Annotator: match by term: GM2-ganglioside accumulationClinVarPMID:25741868
HEXAHumanHearing impairment  IAGPRGD:85743248554872ClinVar Annotator: match by term: Hearing impairmentClinVarPMID:20363167|PMID:22789865|PMID:24767253|PMID:25606403|PMID:25741868|PMID:28492532
HEXAHumanIntellectual disability  IAGPRGD:134356958554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:25741868|PMID:26467025|PMID:27054707|PMID:28492532|PMID:31293106|PMID:36907859
HEXAHumanIntellectual disability  IAGPRGD:85577558554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:10571007|PMID:11463833|PMID:1301938|PMID:1307230|PMID:14727180|PMID:16088929|PMID:16352452|PMID:1830584|PMID:1833974|PMID:20301397|PMID:20672374|PMID:21228398|PMID:22441121|PMID:22723944|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23852624|PMID:24033266|PMID:24374108|PMID:24518553|PMID:24940364|PMID:25287655|PMID:25557439|PMID:25741868|PMID:26467025|PMID:27033294|PMID:27896118|PMID:27959697|PMID:2824459|PMID:2848800|PMID:28492532|PMID:28503624|PMID:30609409|PMID:31076878|PMID:33083013|PMID:33240792|PMID:34554397|PMID:35848209|PMID:36135330|PMID:8230592|PMID:8352284|PMID:8488832|PMID:8490625
HEXAHumanLeukodystrophy  IAGPRGD:85743248554872ClinVar Annotator: match by term: LeukodystrophyClinVarPMID:20363167|PMID:22789865|PMID:24767253|PMID:25606403|PMID:25741868|PMID:28492532
HEXAHumanNeurodevelopmental abnormality  IAGPRGD:1530005218554872ClinVar Annotator: match by term: Neurodevelopmental abnormalityClinVar 
HEXAHumanReduced beta-hexosaminidase A activity  IAGPRGD:85577898554872ClinVar Annotator: match by term: Hexosaminidase A DeficiencyClinVarPMID:10083731|PMID:1302612|PMID:14577003|PMID:16088929|PMID:17259242|PMID:18490185|PMID:22723944|PMID:24518553|PMID:24940364|PMID:25741868|PMID:28492532|PMID:33751187|PMID:7858168|PMID:8490625|PMID:8995368|PMID:9169471|PMID:9272736
HEXAHumanReduced beta-hexosaminidase A activity  IAGPRGD:214062018554872ClinVar Annotator: match by term: Hexosaminidase A DeficiencyClinVarPMID:28492532|PMID:31242539|PMID:36265282
HEXAHumanReduced beta-hexosaminidase A activity  IAGPRGD:85577558554872ClinVar Annotator: match by term: Hexosaminidase A DeficiencyClinVarPMID:10571007|PMID:11463833|PMID:1301938|PMID:1307230|PMID:14727180|PMID:16088929|PMID:16352452|PMID:1830584|PMID:1833974|PMID:20301397|PMID:20672374|PMID:21228398|PMID:22441121|PMID:22723944|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23852624|PMID:24033266|PMID:24374108|PMID:24518553|PMID:24940364|PMID:25287655|PMID:25557439|PMID:25741868|PMID:26467025|PMID:27033294|PMID:27896118|PMID:27959697|PMID:2824459|PMID:2848800|PMID:28492532|PMID:28503624|PMID:30609409|PMID:31076878|PMID:33083013|PMID:33240792|PMID:34554397|PMID:35848209|PMID:36135330|PMID:8230592|PMID:8352284|PMID:8488832|PMID:8490625
HEXAHumanReduced beta-hexosaminidase A activity  IAGPRGD:85577858554872ClinVar Annotator: match by term: Hexosaminidase A DeficiencyClinVarPMID:1301938|PMID:1307230|PMID:1384323|PMID:1387685|PMID:16199547|PMID:17015493|PMID:17237499|PMID:1833974|PMID:1837283|PMID:19858779|PMID:21228398|PMID:22344438|PMID:22789865|PMID:22975760|PMID:24088041|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:33426165|PMID:8326491|PMID:8444467|PMID:8490625
HEXAHumanReduced beta-hexosaminidase A activity  IAGPRGD:116324978554872ClinVar Annotator: match by term: Hexosaminidase A DeficiencyClinVarPMID:25741868
HEXAHumanReduced beta-hexosaminidase A activity  IAGPRGD:1520594708554872ClinVar Annotator: match by term: Hexosaminidase A DeficiencyClinVarPMID:25741868|PMID:28492532
HEXAHumanReduced beta-hexosaminidase A activity  IAGPRGD:116329258554872ClinVar Annotator: match by term: Hexosaminidase A DeficiencyClinVarPMID:28492532
HEXAHumanReduced beta-hexosaminidase A activity  IAGPRGD:137844788554872ClinVar Annotator: match by term: Hexosaminidase A DeficiencyClinVarPMID:28492532
HEXAHumanReduced beta-hexosaminidase A activity  IAGPRGD:1521545068554872ClinVar Annotator: match by term: Hexosaminidase A DeficiencyClinVarPMID:28492532
HEXAHumanReduced beta-hexosaminidase A activity  IAGPRGD:409046998554872ClinVar Annotator: match by term: Hexosaminidase A DeficiencyClinVar 
HEXAHumanReduced beta-hexosaminidase A activity  IAGPRGD:151219448554872ClinVar Annotator: match by term: Hexosaminidase A DeficiencyClinVarPMID:28492532
HEXAHumanReduced beta-hexosaminidase A activity  IAGPRGD:151108458554872ClinVar Annotator: match by term: Hexosaminidase A DeficiencyClinVarPMID:28492532
HEXAHumanReduced beta-hexosaminidase A activity  IAGPRGD:4083933368554872ClinVar Annotator: match by term: Hexosaminidase A DeficiencyClinVarPMID:25741868
1 to 20 of 1118 rows

#
Reference Title
Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Murine Sialidase Neu3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease. Seyrantepe V, etal., Exp Neurol. 2018 Jan;299(Pt A):26-41. doi: 10.1016/j.expneurol.2017.09.012. Epub 2017 Sep 30.
1 to 10 of 14 rows
PMID:808963   PMID:1054503   PMID:1301189   PMID:1301190   PMID:1301938   PMID:1302612   PMID:1307230   PMID:1318511   PMID:1384323   PMID:1483696   PMID:1532289   PMID:1533633  
PMID:1825014   PMID:1825792   PMID:1827945   PMID:1829032   PMID:1830584   PMID:1832817   PMID:1833974   PMID:1837283   PMID:1996872   PMID:2137287   PMID:2140574   PMID:2141777  
PMID:2144098   PMID:2220821   PMID:2278539   PMID:2522660   PMID:2522679   PMID:2531748   PMID:2837213   PMID:2848800   PMID:2933746   PMID:2952641   PMID:2964446   PMID:2965147  
PMID:2970528   PMID:2971395   PMID:2973311   PMID:2973464   PMID:3013851   PMID:3362213   PMID:3375249   PMID:3754980   PMID:6230359   PMID:6458607   PMID:7717398   PMID:7837766  
PMID:7887427   PMID:7898712   PMID:7902672   PMID:7951261   PMID:8123671   PMID:8125298   PMID:8328470   PMID:8445615   PMID:8490625   PMID:8581357   PMID:8634145   PMID:8652542  
PMID:8663217   PMID:8672428   PMID:8673609   PMID:8757036   PMID:8889548   PMID:9090523   PMID:9150157   PMID:9217013   PMID:9222766   PMID:9272736   PMID:9338583   PMID:9375850  
PMID:9401008   PMID:9603435   PMID:9694901   PMID:10571007   PMID:11170098   PMID:11180612   PMID:11707436   PMID:12180151   PMID:12413610   PMID:12477932   PMID:14566483   PMID:14648242  
PMID:14727180   PMID:15342556   PMID:15345116   PMID:15489334   PMID:15953731   PMID:16088929   PMID:16169070   PMID:16212960   PMID:16698036   PMID:16710745   PMID:16776631   PMID:17474147  
PMID:18217416   PMID:18425478   PMID:18490185   PMID:19298806   PMID:19732345   PMID:19858779   PMID:19876898   PMID:19946888   PMID:20000738   PMID:20301397   PMID:21307379   PMID:21637923  
PMID:21796138   PMID:21873635   PMID:21967858   PMID:21997228   PMID:22147196   PMID:22268729   PMID:22441121   PMID:22723944   PMID:22789865   PMID:22863883   PMID:23370522   PMID:23376485  
1 to 10 of 14 rows



HEXA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381572,340,924 - 72,376,014 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1572,340,924 - 72,376,420 (-)EnsemblGRCh38hg38GRCh38
GRCh371572,633,265 - 72,668,355 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361570,422,832 - 70,455,457 (-)NCBINCBI36Build 36hg18NCBI36
Build 341570,422,832 - 70,455,393NCBI
Celera1549,521,918 - 49,554,688 (-)NCBICelera
Cytogenetic Map15q23NCBI
HuRef1549,466,005 - 49,498,776 (-)NCBIHuRef
CHM1_11572,753,786 - 72,786,527 (-)NCBICHM1_1
T2T-CHM13v2.01570,157,399 - 70,192,818 (-)NCBIT2T-CHM13v2.0
Hexa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39959,446,966 - 59,472,392 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl959,446,823 - 59,472,392 (+)EnsemblGRCm39 Ensembl
GRCm38959,539,540 - 59,565,109 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl959,539,540 - 59,565,109 (+)EnsemblGRCm38mm10GRCm38
MGSCv37959,387,474 - 59,412,912 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36959,337,673 - 59,363,111 (+)NCBIMGSCv36mm8
Celera956,766,853 - 56,792,230 (+)NCBICelera
Cytogenetic Map9BNCBI
cM Map932.02NCBI
Hexa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8868,832,524 - 68,857,462 (+)NCBIGRCr8
mRatBN7.2859,936,526 - 59,961,654 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl859,936,660 - 59,962,013 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx865,458,741 - 65,483,646 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0863,731,762 - 63,756,562 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0861,601,107 - 61,626,013 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0864,325,435 - 64,350,775 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl864,325,435 - 64,350,773 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0864,087,247 - 64,112,587 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4863,363,219 - 63,388,146 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1863,382,272 - 63,407,200 (+)NCBI
Celera859,378,288 - 59,403,211 (+)NCBICelera
Cytogenetic Map8q24NCBI
Hexa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554504,790,268 - 4,806,734 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554504,790,342 - 4,806,862 (+)NCBIChiLan1.0ChiLan1.0
HEXA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21661,548,795 - 61,643,064 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11565,707,784 - 65,807,320 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01551,235,123 - 51,326,832 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11570,034,232 - 70,090,688 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1569,998,866 - 70,033,749 (-)Ensemblpanpan1.1panPan2
PanPan1.1 Ensembl1570,057,943 - 70,090,688 (-)Ensemblpanpan1.1panPan2
HEXA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13035,836,788 - 35,862,525 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3035,772,553 - 35,799,681 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03036,041,265 - 36,068,396 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3036,039,878 - 36,068,382 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13035,993,838 - 36,020,876 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03036,021,266 - 36,048,385 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03036,277,065 - 36,304,204 (-)NCBIUU_Cfam_GSD_1.0
Hexa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640113,863,160 - 113,890,243 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647131,709,491 - 31,738,245 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647131,712,485 - 31,738,273 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HEXA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl760,878,284 - 60,913,339 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1760,878,531 - 60,911,537 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2765,420,894 - 65,453,741 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HEXA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12611,081,985 - 11,130,366 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2611,082,468 - 11,116,075 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048130,463,174 - 130,496,786 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hexa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247811,686,384 - 1,714,684 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247811,686,818 - 1,706,044 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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Variants in HEXA
1099 total Variants

1 to 10 of 1240 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_000520.6(HEXA):c.173G>A (p.Cys58Tyr) single nucleotide variant Tay-Sachs disease [RCV000023580] Chr15:72375800 [GRCh38]
Chr15:72668141 [GRCh37]
Chr15:15q23		 pathogenic|affects
NM_000520.4(HEXA):c.-2564_253+5128delinsG indel Tay-Sachs disease [RCV000004095] Chr15:72370592..72378536 [GRCh38]
Chr15:72662933..72670877 [GRCh37]
Chr15:15q23		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) duplication HEXA-related disorder [RCV004755708]|Inborn genetic diseases [RCV000623223]|Intellectual disability [RCV001252517]|Tay-Sachs disease [RCV000004093]|Tay-Sachs disease, variant AB [RCV001250227]|not provided [RCV000224443] Chr15:72346579..72346580 [GRCh38]
Chr15:72638921..72638924 [GRCh37]
Chr15:15q23		 pathogenic|uncertain significance
NM_000520.6(HEXA):c.1421+1G>C single nucleotide variant Tay-Sachs disease [RCV000004094]|not provided [RCV000255737] Chr15:72346234 [GRCh38]
Chr15:72638575 [GRCh37]
Chr15:15q23		 pathogenic
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) single nucleotide variant Inborn genetic diseases [RCV002512734]|Tay-Sachs disease [RCV000004096]|not provided [RCV003480020] Chr15:72345528 [GRCh38]
Chr15:72637869 [GRCh37]
Chr15:15q23		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.346+1G>C single nucleotide variant Tay-Sachs disease [RCV000004097] Chr15:72356524 [GRCh38]
Chr15:72648865 [GRCh37]
Chr15:15q23		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.1510del (p.Arg504fs) deletion Tay-Sachs disease [RCV000004098] Chr15:72345462 [GRCh38]
Chr15:72637803 [GRCh37]
Chr15:15q23		 pathogenic
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) single nucleotide variant Gm2-gangliosidosis, juvenile [RCV000004099]|Tay-Sachs disease [RCV000409695]|not provided [RCV001800288] Chr15:72345461 [GRCh38]
Chr15:72637802 [GRCh37]
Chr15:15q23		 pathogenic|likely pathogenic
NM_000520.6(HEXA):c.533G>A (p.Arg178His) single nucleotide variant Global developmental delay [RCV001255389]|HEXA-related disorder [RCV003964792]|Hexa, dn allele [RCV000004101]|Inborn genetic diseases [RCV002345228]|Tay-Sachs disease [RCV000409508]|Tay-Sachs disease, B1 variant [RCV000004100]|not provided [RCV000396083] Chr15:72353105 [GRCh38]
Chr15:72645446 [GRCh37]
Chr15:15q23		 pathogenic|likely pathogenic
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) single nucleotide variant Tay-Sachs disease [RCV000416435]|Tay-Sachs disease, B1 variant [RCV000004102] Chr15:72353106 [GRCh38]
Chr15:72645447 [GRCh37]
Chr15:15q23		 pathogenic|likely pathogenic
1 to 10 of 1240 rows

Predicted Target Of
Summary Value
Count of predictions:4716
Count of miRNA genes:1104
Interacting mature miRNAs:1390
Transcripts:ENST00000268097, ENST00000429918, ENST00000457859, ENST00000563762, ENST00000563908, ENST00000564677, ENST00000565873, ENST00000566304, ENST00000566672, ENST00000567027, ENST00000567159, ENST00000567213, ENST00000567411, ENST00000568260, ENST00000568777, ENST00000569116, ENST00000569410, ENST00000569509
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597331185GWAS1427259_HTinnitus QTL GWAS1427259 (human)1e-08Tinnitus157234300372343004Human

RH98547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,635,852 - 72,636,038UniSTSGRCh37
Build 361570,422,906 - 70,423,092RGDNCBI36
Celera1549,521,992 - 49,522,178RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,466,079 - 49,466,265UniSTS
GeneMap99-GB4 RH Map15253.26UniSTS
RH118806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,641,423 - 72,641,696UniSTSGRCh37
Build 361570,428,477 - 70,428,750RGDNCBI36
Celera1549,527,563 - 49,527,836RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,471,650 - 49,471,923UniSTS
TNG Radiation Hybrid Map1527555.0UniSTS
GDB:176311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,638,879 - 72,639,047UniSTSGRCh37
Build 361570,425,933 - 70,426,101RGDNCBI36
Celera1549,525,019 - 49,525,187RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,469,106 - 49,469,274UniSTS
GDB:176312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,642,819 - 72,642,985UniSTSGRCh37
Build 361570,429,873 - 70,430,039RGDNCBI36
Celera1549,528,959 - 49,529,125RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,473,046 - 49,473,212UniSTS
GDB:177101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,638,528 - 72,638,663UniSTSGRCh37
Build 361570,425,582 - 70,425,717RGDNCBI36
Celera1549,524,668 - 49,524,803RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,468,755 - 49,468,890UniSTS
GDB:177773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,642,802 - 72,642,991UniSTSGRCh37
Build 361570,429,856 - 70,430,045RGDNCBI36
Celera1549,528,942 - 49,529,131RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,473,029 - 49,473,218UniSTS
GDB:186545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,668,051 - 72,668,402UniSTSGRCh37
Build 361570,455,105 - 70,455,456RGDNCBI36
Celera1549,554,219 - 49,554,570RGD
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map15q23UniSTS
HuRef1549,498,307 - 49,498,658UniSTS
GDB:186546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,642,802 - 72,643,053UniSTSGRCh37
Build 361570,429,856 - 70,430,107RGDNCBI36
Celera1549,528,942 - 49,529,193RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,473,029 - 49,473,280UniSTS
RH44590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,637,785 - 72,637,909UniSTSGRCh37
Build 361570,424,839 - 70,424,963RGDNCBI36
Celera1549,523,925 - 49,524,049RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,468,012 - 49,468,136UniSTS
GeneMap99-GB4 RH Map15256.69UniSTS
SHGC-33452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,637,624 - 72,637,756UniSTSGRCh37
Build 361570,424,678 - 70,424,810RGDNCBI36
Celera1549,523,764 - 49,523,896RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,467,851 - 49,467,983UniSTS
TNG Radiation Hybrid Map1527567.0UniSTS
GeneMap99-GB4 RH Map15253.26UniSTS
Whitehead-RH Map15246.8UniSTS
NCBI RH Map15442.7UniSTS
GeneMap99-G3 RH Map152493.0UniSTS
WI-7120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,636,050 - 72,636,391UniSTSGRCh37
Build 361570,423,104 - 70,423,445RGDNCBI36
Celera1549,522,190 - 49,522,531RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,466,277 - 49,466,618UniSTS
Whitehead-YAC Contig Map15 UniSTS
SHGC-35689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,652,151 - 72,652,372UniSTSGRCh37
Build 361570,439,205 - 70,439,426RGDNCBI36
Celera1549,538,289 - 49,538,510RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,482,376 - 49,482,597UniSTS
Stanford-G3 RH Map152502.0UniSTS
GeneMap99-GB4 RH Map15253.26UniSTS
Whitehead-RH Map15246.8UniSTS
NCBI RH Map15442.7UniSTS
GeneMap99-G3 RH Map152497.0UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2435 2788 2249 4960 1725 2349 5 624 1951 465 2269 7294 6464 53 3723 1 850 1741 1614 175 1


1 to 30 of 48 rows
RefSeq Transcripts NG_009017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB675563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB675564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB675594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB675595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB675596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB675597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB675598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB675599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW088671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC084537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM668409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP356349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 48 rows

Ensembl Acc Id: ENST00000268097   ⟹   ENSP00000268097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,340,924 - 72,376,014 (-)Ensembl
Ensembl Acc Id: ENST00000563762   ⟹   ENSP00000456346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,345,977 - 72,375,972 (-)Ensembl
Ensembl Acc Id: ENST00000563908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,348,009 - 72,375,985 (-)Ensembl
Ensembl Acc Id: ENST00000564677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,887 - 72,345,889 (-)Ensembl
Ensembl Acc Id: ENST00000565873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,857 - 72,345,882 (-)Ensembl
Ensembl Acc Id: ENST00000566304   ⟹   ENSP00000455114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,926 - 72,375,993 (-)Ensembl
Ensembl Acc Id: ENST00000566672   ⟹   ENSP00000457037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,346,132 - 72,376,003 (-)Ensembl
Ensembl Acc Id: ENST00000567027   ⟹   ENSP00000457521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,345,234 - 72,376,003 (-)Ensembl
Ensembl Acc Id: ENST00000567159   ⟹   ENSP00000456489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,345,411 - 72,375,993 (-)Ensembl
Ensembl Acc Id: ENST00000567213   ⟹   ENSP00000478217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,369,959 - 72,375,989 (-)Ensembl
Ensembl Acc Id: ENST00000567411   ⟹   ENSP00000455545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,908 - 72,376,003 (-)Ensembl
Ensembl Acc Id: ENST00000568260   ⟹   ENSP00000458128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,351,132 - 72,375,972 (-)Ensembl
Ensembl Acc Id: ENST00000568777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,345,283 - 72,360,453 (-)Ensembl
Ensembl Acc Id: ENST00000569116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,345,230 - 72,345,804 (-)Ensembl
Ensembl Acc Id: ENST00000569410   ⟹   ENSP00000457125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,346,235 - 72,375,975 (-)Ensembl
Ensembl Acc Id: ENST00000569509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,350,580 - 72,376,420 (-)Ensembl
Ensembl Acc Id: ENST00000682061   ⟹   ENSP00000508316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,345,247 - 72,375,989 (-)Ensembl
Ensembl Acc Id: ENST00000682064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,347,198 (-)Ensembl
Ensembl Acc Id: ENST00000682177   ⟹   ENSP00000507409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,345,261 - 72,375,972 (-)Ensembl
Ensembl Acc Id: ENST00000682235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,347,195 (-)Ensembl
Ensembl Acc Id: ENST00000682461   ⟹   ENSP00000507308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,375,972 (-)Ensembl
Ensembl Acc Id: ENST00000682653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,456 - 72,376,003 (-)Ensembl
Ensembl Acc Id: ENST00000682657   ⟹   ENSP00000507753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,345,244 - 72,375,991 (-)Ensembl
Ensembl Acc Id: ENST00000682721   ⟹   ENSP00000507535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,375,987 (-)Ensembl
Ensembl Acc Id: ENST00000682843   ⟹   ENSP00000508173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,375,979 (-)Ensembl
Ensembl Acc Id: ENST00000683003   ⟹   ENSP00000507576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,345,329 - 72,375,993 (-)Ensembl
Ensembl Acc Id: ENST00000683133   ⟹   ENSP00000508108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,375,972 (-)Ensembl
Ensembl Acc Id: ENST00000683228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,347,258 - 72,376,003 (-)Ensembl
Ensembl Acc Id: ENST00000683243   ⟹   ENSP00000507042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,341,686 - 72,375,991 (-)Ensembl
Ensembl Acc Id: ENST00000683463   ⟹   ENSP00000507986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,376,003 (-)Ensembl
Ensembl Acc Id: ENST00000683548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,376,003 (-)Ensembl
Ensembl Acc Id: ENST00000683579   ⟹   ENSP00000506867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,375,986 (-)Ensembl
Ensembl Acc Id: ENST00000683587
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,376,003 (-)Ensembl
Ensembl Acc Id: ENST00000683681   ⟹   ENSP00000508110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,912 - 72,376,009 (-)Ensembl
Ensembl Acc Id: ENST00000683735   ⟹   ENSP00000508336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,375,989 (-)Ensembl
Ensembl Acc Id: ENST00000683742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,347,198 - 72,351,635 (-)Ensembl
Ensembl Acc Id: ENST00000683853   ⟹   ENSP00000506834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,453 - 72,376,003 (-)Ensembl
Ensembl Acc Id: ENST00000683860   ⟹   ENSP00000507179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,344,021 - 72,376,009 (-)Ensembl
Ensembl Acc Id: ENST00000683884   ⟹   ENSP00000507004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,345,270 - 72,376,003 (-)Ensembl
Ensembl Acc Id: ENST00000684041   ⟹   ENSP00000508382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,345,468 - 72,376,009 (-)Ensembl
Ensembl Acc Id: ENST00000684125   ⟹   ENSP00000507320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,376,003 (-)Ensembl
Ensembl Acc Id: ENST00000684203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,375,989 (-)Ensembl
Ensembl Acc Id: ENST00000684231   ⟹   ENSP00000507748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,375,992 (-)Ensembl
Ensembl Acc Id: ENST00000684263   ⟹   ENSP00000508369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,446 - 72,376,003 (-)Ensembl
Ensembl Acc Id: ENST00000684305   ⟹   ENSP00000506819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,375,972 (-)Ensembl
Ensembl Acc Id: ENST00000684415   ⟹   ENSP00000507227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,345,241 - 72,376,003 (-)Ensembl
Ensembl Acc Id: ENST00000684520   ⟹   ENSP00000506826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,345,242 - 72,376,009 (-)Ensembl
Ensembl Acc Id: ENST00000684602   ⟹   ENSP00000507996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,375,989 (-)Ensembl
Ensembl Acc Id: ENST00000684667   ⟹   ENSP00000507003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1572,343,454 - 72,375,972 (-)Ensembl
RefSeq Acc Id: NM_000520   ⟹   NP_000511
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381572,340,924 - 72,376,014 (-)NCBI
GRCh371572,635,778 - 72,669,474 (-)NCBI
Build 361570,422,832 - 70,455,457 (-)NCBI Archive
HuRef1549,466,005 - 49,498,776 (-)ENTREZGENE
CHM1_11572,753,784 - 72,786,821 (-)NCBI
T2T-CHM13v2.01570,157,399 - 70,192,818 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318825   ⟹   NP_001305754
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381572,340,924 - 72,376,014 (-)NCBI
CHM1_11572,753,784 - 72,786,821 (-)NCBI
T2T-CHM13v2.01570,157,399 - 70,192,818 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134869
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381572,345,229 - 72,376,014 (-)NCBI
CHM1_11572,755,553 - 72,786,821 (-)NCBI
T2T-CHM13v2.01570,161,704 - 70,192,818 (-)NCBI
Sequence:
1 to 30 of 38 rows
Protein RefSeqs NP_000511 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305754 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51827 (Get FASTA)   NCBI Sequence Viewer  
  AAB00965 (Get FASTA)   NCBI Sequence Viewer  
  AAB33748 (Get FASTA)   NCBI Sequence Viewer  
  AAD13927 (Get FASTA)   NCBI Sequence Viewer  
  AAD13932 (Get FASTA)   NCBI Sequence Viewer  
  AAD14242 (Get FASTA)   NCBI Sequence Viewer  
  AAD14243 (Get FASTA)   NCBI Sequence Viewer  
  AAD14246 (Get FASTA)   NCBI Sequence Viewer  
  AAH01138 (Get FASTA)   NCBI Sequence Viewer  
  AAH18927 (Get FASTA)   NCBI Sequence Viewer  
  AAH84537 (Get FASTA)   NCBI Sequence Viewer  
  AER36552 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33567 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33568 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33569 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33570 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33571 (Get FASTA)   NCBI Sequence Viewer  
  BAD96222 (Get FASTA)   NCBI Sequence Viewer  
  BAG59159 (Get FASTA)   NCBI Sequence Viewer  
  BAG60039 (Get FASTA)   NCBI Sequence Viewer  
  BAG62619 (Get FASTA)   NCBI Sequence Viewer  
  BAG62730 (Get FASTA)   NCBI Sequence Viewer  
  BAL04456 (Get FASTA)   NCBI Sequence Viewer  
  BAL04457 (Get FASTA)   NCBI Sequence Viewer  
  BAL04458 (Get FASTA)   NCBI Sequence Viewer  
  BAL04459 (Get FASTA)   NCBI Sequence Viewer  
  BAL04460 (Get FASTA)   NCBI Sequence Viewer  
  BAL04461 (Get FASTA)   NCBI Sequence Viewer  
1 to 30 of 38 rows
1 to 5 of 37 rows
1 to 5 of 37 rows
RefSeq Acc Id: NP_000511   ⟸   NM_000520
- Peptide Label: isoform 2 preproprotein
- UniProtKB: Q53HS8 (UniProtKB/Swiss-Prot),   E7ENH7 (UniProtKB/Swiss-Prot),   B4DKE7 (UniProtKB/Swiss-Prot),   Q6AI32 (UniProtKB/Swiss-Prot),   P06865 (UniProtKB/Swiss-Prot),   A0A0S2Z3W3 (UniProtKB/TrEMBL),   B4DVA7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305754   ⟸   NM_001318825
- Peptide Label: isoform 1 precursor
- UniProtKB: B4DVA7 (UniProtKB/TrEMBL),   H3BP20 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000457125   ⟸   ENST00000569410
Ensembl Acc Id: ENSP00000268097   ⟸   ENST00000268097
Ensembl Acc Id: ENSP00000456346   ⟸   ENST00000563762
Beta-hexosaminidase eukaryotic type N-terminal   Glycoside hydrolase family 20 catalytic

Name Modeler Protein Id AA Range Protein Structure
AF-P06865-F1-model_v2 AlphaFold P06865 1-529 view protein structure

RGD ID:6810761
Promoter ID:HG_ACW:27219
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:FYJAWBY.AAPR07-UNSPLICED,   HEXAANDBRUNOL6.NAPR07,   HEXAANDBRUNOL6.OAPR07-UNSPLICED,   HEXAANDBRUNOL6.QAPR07,   HEXAANDBRUNOL6.SAPR07,   HEXAANDBRUNOL6.VAAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361570,424,686 - 70,425,186 (-)MPROMDB
RGD ID:6792137
Promoter ID:HG_KWN:21838
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000257317,   UC002AUK.2,   UC002AUO.2,   UC010BIX.1,   UC010BIY.1,   UC010BIZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361570,455,206 - 70,455,706 (-)MPROMDB
RGD ID:6852280
Promoter ID:EP73946
Type:initiation region
Name:HS_HEXA
Description:Hexosaminidase A (alpha polypeptide).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361570,455,376 - 70,455,436EPD
RGD ID:7230017
Promoter ID:EPDNEW_H20753
Type:initiation region
Name:HEXA_1
Description:hexosaminidase subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20754  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381572,376,014 - 72,376,074EPDNEW
RGD ID:7230015
Promoter ID:EPDNEW_H20754
Type:initiation region
Name:HEXA_2
Description:hexosaminidase subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20753  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381572,376,419 - 72,376,479EPDNEW


1 to 40 of 75 rows
Database
Acc Id
Source(s)
COSMIC HEXA COSMIC
Ensembl Genes ENSG00000213614 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000268097 ENTREZGENE
  ENST00000268097.10 UniProtKB/Swiss-Prot
  ENST00000566304 ENTREZGENE
  ENST00000567027 ENTREZGENE
Gene3D-CATH 3.30.379.10 UniProtKB/Swiss-Prot
  Glycosidases UniProtKB/Swiss-Prot
GTEx ENSG00000213614 GTEx
HGNC ID HGNC:4878 ENTREZGENE
Human Proteome Map HEXA Human Proteome Map
InterPro Beta_hexosaminidase_sua/sub UniProtKB/Swiss-Prot
  Glyco_hydro_20_cat UniProtKB/Swiss-Prot
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot
  Hex-like_dom2 UniProtKB/Swiss-Prot
  HEX_eukaryotic_N UniProtKB/Swiss-Prot
KEGG Report hsa:3073 UniProtKB/Swiss-Prot
NCBI Gene 3073 ENTREZGENE
OMIM 606869 OMIM
PANTHER BETA-HEXOSAMINIDASE SUBUNIT ALPHA UniProtKB/Swiss-Prot
  PTHR22600 UniProtKB/Swiss-Prot
Pfam Glyco_hydro_20 UniProtKB/Swiss-Prot
  Glycohydro_20b2 UniProtKB/Swiss-Prot
PharmGKB PA29256 PharmGKB
PIRSF B-hxosamndse_ab_euk_ UniProtKB/Swiss-Prot
PRINTS GLHYDRLASE20 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51445 UniProtKB/Swiss-Prot
  SSF55545 UniProtKB/Swiss-Prot
UniProt A0A087WTY2_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3L7_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3M0_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3U8_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3W3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3X0_HUMAN UniProtKB/TrEMBL
  A0A804HIC7_HUMAN UniProtKB/TrEMBL
  A0A804HIC8_HUMAN UniProtKB/TrEMBL
  A0A804HIQ5_HUMAN UniProtKB/TrEMBL
  A0A804HIU3_HUMAN UniProtKB/TrEMBL
  A0A804HJ97_HUMAN UniProtKB/TrEMBL
  A0A804HJK0_HUMAN UniProtKB/TrEMBL
1 to 40 of 75 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 HEXA  hexosaminidase subunit alpha  HEXA  hexosaminidase A (alpha polypeptide)  Symbol and/or name change 5135510 APPROVED