Toggle navigation
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
Docs
User Guide
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
Data Model
Computational inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analyze Data
Species Comparison
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site map
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Download
About
What is Reactome ?
News
Team
Scientific Advisory Board
Editorial Calendar
Statistics
Our Logo
License Agreement
Disclaimer
Content
Table of Contents
DOIs
Data Schema
ORCID Integration Project
Docs
User Guide
Developer's Zone
Graph Database
Analysis Service
Content Service
Pathways Overview
Pathway Diagrams
Icon Info
Data Model
Computational inferred events
Linking to Us
Citing us
Tools
Pathway Browser
Analyze Data
Species Comparison
Analysis Service
Content Service
ReactomeFIViz
Advanced Data Search
Site map
Community
Icon Library
Outreach
Events
Training
Publications
Partners
Papers Citing Us
Resources Guide
Download
Search ...
Go!
HEXB M26Cfs*5 [lysosomal lumen]
Stable Identifier
R-HSA-3700843
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
lysosomal lumen
Synonyms
HEXBB, Beta-hexosaminidase subunit beta B, HEXB_HUMAN, HEXB
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosaminoglycan metabolism (Homo sapiens)
Defective HEXB causes GM2G2 (Homo sapiens)
Defective HEXB does not cleave the terminal GalNAc from DS (Homo sapiens)
HEXB mutants [lysosomal lumen] (Homo sapiens)
HEXB M26Cfs*5 [lysosomal lumen] (Homo sapiens)
Defective HEXB does not cleave the terminal GalNAc from HA fragments (Homo sapiens)
HEXB mutants [lysosomal lumen] (Homo sapiens)
HEXB M26Cfs*5 [lysosomal lumen] (Homo sapiens)
Defective HEXB does not cleave the terminal GalNAc from keratan sulfate (Homo sapiens)
HEXB mutants [lysosomal lumen] (Homo sapiens)
HEXB M26Cfs*5 [lysosomal lumen] (Homo sapiens)
External Reference Information
External Reference
UniProt:P07686 HEXB
Gene Names
HEXB, HCC7
Chain
signal peptide:1-42, propeptide:43-121, chain:122-556, chain:122-311, chain:315-556
Reference Genes
BioGPS Gene:3074 HEXB
COSMIC (genes):HEXB HEXB
CTD Gene:3074 HEXB
dbSNP Gene:3074 HEXB
ENSEMBL:ENSG00000049860 HEXB
ENSEMBL_homo_sapiens_GENE:ENSG00000049860 HEXB
HGNC:4879 HEXB
KEGG Gene (Homo sapiens):3074 HEXB
Monarch:3074 HEXB
NCBI Gene:3074 HEXB
OMIM:606873 HEXB
UCSC:P07686 HEXB
Reference Transcript
RefSeq:NM_001292004.1 HEXB
RefSeq:NM_000521.3 HEXB
Other Identifiers
00511+3.2.1.52
00513+3.2.1.52
00520+3.2.1.52
00531+3.2.1.52
00603+3.2.1.52
00604+3.2.1.52
11715837_a_at
16986203
201944_at
2815804
2815805
2815806
2815807
2815808
2815810
2815815
2815816
2815817
2815820
2815822
2815824
2815825
2815826
2815830
2815832
2815833
2815834
2815837
2815839
2815841
2815842
3074
55409
56010
8106252
A_14_P100715
A_14_P119296
CCDS4022
D6REQ8
ENSG00000049860
ENSP00000261416
ENST00000261416
EntrezGene:3074
g13128866_3p_s_at
GE60505
GO:0000003
GO:0000902
GO:0001501
GO:0001669
GO:0002376
GO:0003674
GO:0004553
GO:0004563
GO:0005515
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005764
GO:0005773
GO:0005975
GO:0006629
GO:0006687
GO:0006689
GO:0006790
GO:0006810
GO:0006874
GO:0007040
GO:0007338
GO:0007341
GO:0007605
GO:0007626
GO:0008049
GO:0008150
GO:0008152
GO:0008360
GO:0008375
GO:0008654
GO:0009056
GO:0009058
GO:0009313
GO:0016020
GO:0016192
GO:0016757
GO:0016787
GO:0016798
GO:0019915
GO:0019953
GO:0030154
GO:0030203
GO:0030207
GO:0030214
GO:0031323
GO:0031410
GO:0034641
GO:0035578
GO:0040011
GO:0042340
GO:0042552
GO:0042582
GO:0042592
GO:0042803
GO:0043202
GO:0043226
GO:0043312
GO:0043615
GO:0044267
GO:0044281
GO:0045944
GO:0046982
GO:0048477
GO:0048856
GO:0048870
GO:0050877
GO:0050885
GO:0050905
GO:0070062
GO:0102148
HEXB
HEXB-201
HGNC:4879
IPR015883
IPR017853
IPR025705
IPR029018
IPR029019
M23294_at
MIM:268800
MIM:606873
NM_000521
NP_000512
PF00728
PF14845
PH_hs_0022175
PR00738
Q5URX0
TC05000359.hg
TC05002451.hg
uc003kdf.4
UPI000013D183
Participant Of
hasMember
HEXB mutants [lysosomal lumen]
Other forms of this molecule
HEXB S62L [lysosomal lumen]
HEXB R284* [lysosomal lumen]
HEXB I322Kfs*5 [lysosomal lumen]
HEXB(315-556) [extracellular region]
HEXB(122-311) [lysosomal lumen]
HEXB(315-556) [lysosomal lumen]
HEXB(122-311) [azurophil granule lumen]
HEXB(315-556) [azurophil granule lumen]
HEXB(122-311) [extracellular region]
Modified Residues
Name
Replacement of residues 26 to 29 by CWRC
Disease
Name
Identifier
Synonyms
gangliosidosis GM2
3321
GM>2< gangliosidosis (disorder)
Cross References
RefSeq
NP_001278933.1
,
NP_000512.1
OpenTargets
ENSG00000049860
GeneCards
P07686
ZINC - Substances
HEXB_HUMAN
DOCK Blaster
1O7A
,
2GK1
,
1NP0
,
3LMY
,
5BRO
,
2GJX
,
1NOU
,
1NOW
ZINC target
P07686
PRO
P07686
BRENDA (Homo sapiens)
3.2.1.52
Orphanet
16194
ZINC - Predictions - Purchasable
HEXB_HUMAN
HMDB Protein
HMDBP00871
PDB
5BRO
,
2GJX
,
1NOU
,
2GK1
,
3LMY
,
1NP0
,
1O7A
,
1QBD
,
1NOW
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P00441 SOD1
5
SOD1 [mitochondrial intermembrane space]
(R-HSA-3777082)
SOD1 [extracellular region]
(R-HSA-350705)
2xHC-SOD1 [mitochondrial intermembrane space]
(R-HSA-3777108)
SOD1 [cytosol]
(R-HSA-350697)
2xHC-SOD1 [cytosol]
(R-HSA-3299726)
0.527
2
UniProt:P49639 HOXA1
1
HOXA1 [nucleoplasm]
(R-HSA-5617464)
0.488
2
© 2019
Reactome