This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A... See more...

Aliases for GALNS Gene

Aliases for GALNS Gene

  • Galactosamine (N-Acetyl)-6-Sulfatase 2 3 5
  • Galactosamine (N-Acetyl)-6-Sulfate Sulfatase 2 3
  • N-Acetylgalactosamine-6-Sulfate Sulfatase 3 4
  • N-Acetylgalactosamine-6-Sulfatase 3 4
  • Galactose-6-Sulfate Sulfatase 3 4
  • Chondroitinsulfatase 3 4
  • GalNAc6S Sulfatase 3 4
  • Chondroitinase 3 4
  • EC 4 51
  • GALNAC6S 2 3
  • GalN6S 3 4
  • GAS 2 3
  • Mucopolysaccharidosis Type IVA 2
  • Morquio Syndrome 2
  • EC 3.1.6 51
  • MPS4A 3
  • GALNS 5

External Ids for GALNS Gene

Previous GeneCards Identifiers for GALNS Gene

  • GC16P080398
  • GC16P090059
  • GC16M088583
  • GC16M088624
  • GC16M087407
  • GC16M088880
  • GC16M074577

Summaries for GALNS Gene

Entrez Gene Summary for GALNS Gene

  • This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]

GeneCards Summary for GALNS Gene

GALNS (Galactosamine (N-Acetyl)-6-Sulfatase) is a Protein Coding gene. Diseases associated with GALNS include Mucopolysaccharidosis, Type Iva and Morquio Syndrome. Among its related pathways are Innate Immune System and Lysosome. Gene Ontology (GO) annotations related to this gene include sulfuric ester hydrolase activity and N-acetylgalactosamine-6-sulfatase activity. An important paralog of this gene is ARSA.

Gene Wiki entry for GALNS Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GALNS Gene

Genomics for GALNS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GALNS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GALNS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GALNS

Top Transcription factor binding sites by QIAGEN in the GALNS gene promoter:
  • AML1a
  • CUTL1
  • HOXA5
  • IRF-2
  • Max1
  • Pax-5
  • Sp1
  • STAT3

Genomic Locations for GALNS Gene

Latest Assembly
43,237 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
43,214 bases
Minus strand

(GRCh37/hg19 by Ensembl)
43,237 bases
Minus strand

Genomic View for GALNS Gene

Genes around GALNS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNS Gene

Proteins for GALNS Gene

  • Protein details for GALNS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q86VK3

    Protein attributes for GALNS Gene

    522 amino acids
    Molecular mass:
    58026 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for GALNS Gene

neXtProt entry for GALNS Gene

Selected DME Specific Peptides for GALNS Gene


Post-translational modifications for GALNS Gene

  • The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity.
  • Glycosylation at Asn204 and Asn423
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • GALNS_HUMAN (1531)

Domains & Families for GALNS Gene

Gene Families for GALNS Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for GALNS Gene

  • Sulfatase

Suggested Antigen Peptide Sequences for GALNS Gene

GenScript: Design optimal peptide antigens:
  • N-acetylgalactosamine-6-sulfate sulfatase (GALNS_HUMAN)
  • GALNS protein (Q96I49_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the sulfatase family.
  • Belongs to the sulfatase family.
genes like me logo Genes that share domains with GALNS: view

Function for GALNS Gene

Molecular function for GALNS Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolysis of the 6-sulfate groups of the N-acetyl-D-galactosamine 6-sulfate units of chondroitin sulfate and of the D-galactose 6-sulfate units of keratan sulfate.; EC=; Evidence={ECO:0000269|PubMed:22940367};.
GENATLAS Biochemistry:
acetyl-galactosamine-6-sulfate sulfatase,lysosomal,acting on keratan sulfate,stepwise degradation of glycosaminoglycans (mucopolysaccharides)

Enzyme Numbers (IUBMB) for GALNS Gene

Phenotypes From GWAS Catalog for GALNS Gene

Gene Ontology (GO) - Molecular Function for GALNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003943 N-acetylgalactosamine-4-sulfatase activity TAS 8325655
GO:0004065 arylsulfatase activity IBA 21873635
GO:0008484 sulfuric ester hydrolase activity IEA,IDA 15962010
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with GALNS: view
genes like me logo Genes that share phenotypes with GALNS: view

Human Phenotype Ontology for GALNS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GALNS Gene

MGI Knock Outs for GALNS:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALNS

No data available for Transcription Factor Targets and HOMER Transcription for GALNS Gene

Localization for GALNS Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNS Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GALNS gene
Compartment Confidence
extracellular 5
lysosome 5
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GALNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005764 lysosome IEA --
GO:0035578 azurophil granule lumen TAS --
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with GALNS: view

Pathways & Interactions for GALNS Gene

genes like me logo Genes that share pathways with GALNS: view

Pathways by source for GALNS Gene

Gene Ontology (GO) - Biological Process for GALNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042340 keratan sulfate catabolic process TAS --
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with GALNS: view

No data available for SIGNOR curated interactions for GALNS Gene

Drugs & Compounds for GALNS Gene

(20) Drugs for GALNS Gene - From: DrugBank, PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chondroitin sulfate Approved, Investigational Nutra Enzyme, substrate 0
elosulfase alfa Approved, Investigational Pharma 0
Morphine Approved, Investigational Pharma 1486
Water Approved Pharma 0
Sulfate Experimental, Investigational Pharma 0

(23) Additional Compounds for GALNS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • alpha-D-Gal
  • Gal-alpha
  • alpha-D-Galactose
  • Keratan 6'-sulfate
  • Keratan 6'-sulphate
  • Keratan sulfate
  • Keratan sulphate
  • Kerato 6'-sulfate
  • 2-(Acetylamino)-2-deoxy-alpha-D-galactopyranose
  • alpha-GalNAc
  • alpha-GalpNAc
  • GalNAc-alpha
  • Tn
genes like me logo Genes that share compounds with GALNS: view

Transcripts for GALNS Gene

mRNA/cDNA for GALNS Gene

21 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALNS

Alternative Splicing Database (ASD) splice patterns (SP) for GALNS Gene

No ASD Table

Relevant External Links for GALNS Gene

GeneLoc Exon Structure for

Expression for GALNS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GALNS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GALNS Gene

This gene is overexpressed in Urine (27.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GALNS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GALNS

SOURCE GeneReport for Unigene cluster for GALNS Gene:


Evidence on tissue expression from TISSUES for GALNS Gene

  • Liver(4.4)
  • Pancreas(4.2)
  • Nervous system(3.1)
  • Bone marrow(2.2)
  • Eye(2.1)
  • Skin(2.1)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GALNS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • skull
  • tooth
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
  • abdominal wall
  • intestine
  • kidney
  • liver
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with GALNS: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for GALNS Gene

Orthologs for GALNS Gene

This gene was present in the common ancestor of animals.

Orthologs for GALNS Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GALNS 30 31
  • 97.39 (n)
(Canis familiaris)
Mammalia GALNS 30 31
  • 86.18 (n)
(Bos Taurus)
Mammalia GALNS 30 31
  • 84.9 (n)
(Mus musculus)
Mammalia Galns 30 17 31
  • 83.75 (n)
(Rattus norvegicus)
Mammalia Galns 30
  • 82.82 (n)
(Monodelphis domestica)
Mammalia GALNS 31
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia GALNS 31
  • 70 (a)
(Gallus gallus)
Aves GALNS 30 31
  • 75.68 (n)
(Anolis carolinensis)
Reptilia GALNS 31
  • 75 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia galns 30
  • 71.57 (n)
(Danio rerio)
Actinopterygii galns 30 31
  • 69.29 (n)
Dr.13248 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10350 30
(Caenorhabditis elegans)
Secernentea D1014.1 32
  • 33 (a)
sul-2 31
  • 27 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 61 (a)
Species where no ortholog for GALNS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GALNS Gene

Gene Tree for GALNS (if available)
Gene Tree for GALNS (if available)
Evolutionary constrained regions (ECRs) for GALNS: view image

Paralogs for GALNS Gene

(4) SIMAP similar genes for GALNS Gene using alignment to 7 proteins:

  • F5H325_HUMAN
  • H3BP66_HUMAN
  • H3BV24_HUMAN
  • Q96I49_HUMAN
genes like me logo Genes that share paralogs with GALNS: view

Variants for GALNS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GALNS Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
836229 Likely Pathogenic: Mucopolysaccharidosis, MPS-IV-A 88,837,763(-) T/A
NM_000512.5(GALNS):c.425A>T (p.His142Leu)
837574 Uncertain Significance: Mucopolysaccharidosis, MPS-IV-A 88,856,754(-) T/C
843497 Uncertain Significance: Mucopolysaccharidosis, MPS-IV-A 88,856,812(-) C/A
NM_000512.5(GALNS):c.66G>T (p.Met22Ile)
847815 Pathogenic: Mucopolysaccharidosis, MPS-IV-A 88,856,760(-) C/G
NM_000512.5(GALNS):c.118G>C (p.Asp40His)
847816 Pathogenic: Mucopolysaccharidosis, MPS-IV-A 88,856,757(-) C/G

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GALNS Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for GALNS Gene

Variant ID Type Subtype PubMed ID
dgv3064n100 CNV gain 25217958
dgv3065n100 CNV gain 25217958
dgv37n68 CNV loss 17160897
esv1489877 CNV insertion 17803354
esv22725 CNV loss 19812545
esv2661245 CNV deletion 23128226
esv2674381 CNV deletion 23128226
esv2715046 CNV deletion 23290073
esv2715047 CNV deletion 23290073
esv2715048 CNV deletion 23290073
esv2715049 CNV deletion 23290073
esv2715050 CNV deletion 23290073
esv2715051 CNV deletion 23290073
esv2715053 CNV deletion 23290073
esv2715054 CNV deletion 23290073
esv2715055 CNV deletion 23290073
esv2715056 CNV deletion 23290073
esv2715057 CNV deletion 23290073
esv2715058 CNV deletion 23290073
esv2715059 CNV deletion 23290073
esv2715060 CNV deletion 23290073
esv2715061 CNV deletion 23290073
esv2715062 CNV deletion 23290073
esv2740749 CNV deletion 23290073
esv29821 CNV loss 19812545
esv3639555 CNV gain 21293372
esv3639561 CNV gain 21293372
esv3639562 CNV loss 21293372
esv3892938 CNV loss 25118596
esv7598 CNV loss 19470904
nsv1061256 CNV gain 25217958
nsv1063024 CNV gain 25217958
nsv1063441 CNV loss 25217958
nsv457617 CNV gain 19166990
nsv471115 CNV loss 18288195
nsv471117 CNV gain 18288195
nsv482951 CNV loss 15286789
nsv521217 CNV loss 19592680
nsv527997 CNV loss 19592680
nsv528898 CNV loss 19592680
nsv573674 CNV gain 21841781
nsv573714 CNV gain 21841781
nsv819907 CNV gain 19587683
nsv952071 CNV deletion 24416366

Variation tolerance for GALNS Gene

Residual Variation Intolerance Score: 72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.63; 82.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GALNS Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNS Gene

Disorders for GALNS Gene

MalaCards: The human disease database

(34) MalaCards diseases for GALNS Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search GALNS in MalaCards View complete list of genes associated with diseases


  • Mucopolysaccharidosis 4A (MPS4A) [MIM:253000]: A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life. {ECO:0000269 PubMed:1522213, ECO:0000269 PubMed:16287098, ECO:0000269 PubMed:24726177, ECO:0000269 PubMed:7581409, ECO:0000269 PubMed:7633425, ECO:0000269 PubMed:7668283, ECO:0000269 PubMed:7795586, ECO:0000269 PubMed:8651279, ECO:0000269 PubMed:8826435, ECO:0000269 PubMed:9298823, ECO:0000269 PubMed:9375852, ECO:0000269 PubMed:9521421}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for GALNS

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with GALNS: view

No data available for Genatlas for GALNS Gene

Publications for GALNS Gene

  1. Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase. (PMID: 1755850) Tomatsu S … Nakashima Y (Biochemical and biophysical research communications 1991) 2 3 4 23
  2. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). (PMID: 16287098) Tomatsu S … Orii T (Human mutation 2005) 3 4 23
  3. Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype. (PMID: 9521421) Yamada N … Orii T (Human mutation 1998) 3 4 23
  4. Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene. (PMID: 9375852) Tomatsu S … Orii T (Human mutation 1997) 3 4 23
  5. Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome. (PMID: 9298823) Bunge S … Gal A (Human mutation 1997) 3 4 23

Products for GALNS Gene

Sources for GALNS Gene