HEXB (hexosaminidase subunit beta)

2010-01-01  

Identity

HGNC
HEXB
LOCATION
5q13.3
LOCUSID
3074
ALIAS
ENC-1AS,HEL-248,HEL-S-111
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3074
MIM: 606873
HGNC: 4879
Ensembl: ENSG00000049860

Variants:

dbSNP: 3074
ClinVar: 3074
TCGA: ENSG00000049860
COSMIC: HEXB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000049860ENST00000261416P07686
ENSG00000049860ENST00000503312H0YA83
ENSG00000049860ENST00000505859H0Y9M3
ENSG00000049860ENST00000509579D6REQ8
ENSG00000049860ENST00000511181Q5URX0
ENSG00000049860ENST00000513336H0Y9B6

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Other glycan degradationKEGGko00511
Amino sugar and nucleotide sugar metabolismKEGGko00520
Glycosaminoglycan degradationKEGGko00531
Glycosphingolipid biosynthesis - ganglio seriesKEGGko00604
Other glycan degradationKEGGhsa00511
Amino sugar and nucleotide sugar metabolismKEGGhsa00520
Glycosaminoglycan degradationKEGGhsa00531
Glycosphingolipid biosynthesis - globo and isoglobo seriesKEGGhsa00603
Glycosphingolipid biosynthesis - ganglio seriesKEGGhsa00604
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Keratan sulfate degradationKEGGhsa_M00079
Keratan sulfate degradationKEGGM00079
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of carbohydratesREACTOMER-HSA-71387
Glycosaminoglycan metabolismREACTOMER-HSA-1630316
Hyaluronan metabolismREACTOMER-HSA-2142845
Hyaluronan uptake and degradationREACTOMER-HSA-2160916
Keratan sulfate/keratin metabolismREACTOMER-HSA-1638074
Keratan sulfate degradationREACTOMER-HSA-2022857
Chondroitin sulfate/dermatan sulfate metabolismREACTOMER-HSA-1793185
CS/DS degradationREACTOMER-HSA-2024101
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Glycosphingolipid metabolismREACTOMER-HSA-1660662
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
345543972022Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.1
345543972022Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients.1
334072682021Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.5
334072682021Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients.5
316829932020Novel 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.14
319197342020Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.2
316829932020Novel 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.14
319197342020Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.2
318524462019Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.6
318524462019Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.6
288468712018Pediatric reference data on activity of urinary N-acetyl-β-D-hexosaminidase and its isoenzymes.1
294481882018Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.2
288468712018Pediatric reference data on activity of urinary N-acetyl-β-D-hexosaminidase and its isoenzymes.1
294481882018Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.2
265822652016Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease.4

Citation

Dessen P

HEXB (hexosaminidase subunit beta)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51273/hexb-(hexosaminidase-subunit-beta)