HEXB

GENERAL INFORMATION

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Gene name

HEXB

Gene description

Hexosaminidase B (beta polypeptide)

Protein class

Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

Intracellular,Secreted

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Granular expression in selected tissues, most abundant in subsets of leukocytes.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA055409 , HPA056010
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Prostate



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

HEXB

Synonyms

Description

Hexosaminidase B (beta polypeptide) (HGNC Symbol)

Entrez gene summary

Hexosaminidase B is the beta subunit of the lysosomal enzyme beta-hexosaminidase that, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Beta-hexosaminidase is composed of two subunits, alpha and beta, which are encoded by separate genes. Both beta-hexosaminidase alpha and beta subunits are members of family 20 of glycosyl hydrolases. Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses. Beta subunit gene mutations lead to Sandhoff disease (GM2-gangliosidosis type II). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]

Chromosome

5

Cytoband

q13.3

Chromosome location (bp)

74640023 - 74722647

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000049860 (version 78.38)

Entrez gene

3074

UniProt

P07686 (UniProt - Evidence at protein level)

neXtProt

NX_P07686

Antibodypedia

HEXB antibodies


PROTEIN BROWSER

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ENST00000261416
 
ENST00000509579
 
ENST00000511181
 
ENST00000513336
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HEXB-001 ENSP00000261416
ENST00000261416
P07686
Show all »
Show » Show » 556 63.1 Yes 0
HEXB-002 ENSP00000426285
ENST00000511181
Q5URX0
Show all »
Show » Show » 331 38.3 No 0
HEXB-007 ENSP00000423713
ENST00000513336
D6REQ8
Show all »
Show » Show » 202 23.1 No 0
HEXB-009 ENSP00000424939
ENST00000509579
D6REQ8
Show all »
Show » 35 4.2 No 0