GALNS (galactosamine (N-acetyl)-6-sulfatase)

2014-11-01  

Identity

HGNC
GALNS
LOCATION
16q24.3
LOCUSID
2588
ALIAS
GALNAC6S,GAS,GalN6S,MPS4A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2588
MIM: 612222
HGNC: 4122
Ensembl: ENSG00000141012

Variants:

dbSNP: 2588
ClinVar: 2588
TCGA: ENSG00000141012
COSMIC: GALNS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141012ENST00000268695P34059
ENSG00000141012ENST00000562831H3BP66
ENSG00000141012ENST00000567525Q6MZF5
ENSG00000141012ENST00000568311H3BNU2
ENSG00000141012ENST00000568613H3BV24
ENSG00000141012ENST00000569433H3BSU9

Expression (GTEx)

0
5
10
15
20
25
30
35
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
Glycosaminoglycan degradationKEGGko00531
Glycosaminoglycan degradationKEGGhsa00531
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Metabolic pathwaysKEGGhsa01100
Chondroitin sulfate degradationKEGGhsa_M00077
Keratan sulfate degradationKEGGhsa_M00079
Chondroitin sulfate degradationKEGGM00077
Keratan sulfate degradationKEGGM00079
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
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 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166159062elosulfase alfaChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
352124212022Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.3
357295082022The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.2
362926282022Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.0
352124212022Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.3
357295082022The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.2
362926282022Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.0
337755232021Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy.5
340763472021Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.2
343879102021Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.12
344721802021The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report.5
337755232021Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy.5
340763472021Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region.2
343879102021Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.12
344721802021The youngest pair of siblings with Mucopolysaccharidosis type IVA to receive enzyme replacement therapy to date: A case report.5
322160802020Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome).2

Citation

Dessen P

GALNS (galactosamine (N-acetyl)-6-sulfatase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63681/humanGenome