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Aliases for NAGA Gene

Aliases for NAGA Gene

  • Alpha-N-Acetylgalactosaminidase 2 3 3 5
  • N-Acetylgalactosaminidase, Alpha- 2 3
  • Alpha-Galactosidase B 3 4
  • Acetylgalactosaminidase, Alpha-N- (Alpha-Galactosidase B) 3
  • EC 4
  • D22S674 3
  • GALB 3

External Ids for NAGA Gene

Previous GeneCards Identifiers for NAGA Gene

  • GC22M039068
  • GC22M040697
  • GC22M040778
  • GC22M040784
  • GC22M042428
  • GC22M025420

Summaries for NAGA Gene

Entrez Gene Summary for NAGA Gene

  • NAGA encodes the lysosomal enzyme alpha-N-acetylgalactosaminidase, which cleaves alpha-N-acetylgalactosaminyl moieties from glycoconjugates. Mutations in NAGA have been identified as the cause of Schindler disease types I and II (type II also known as Kanzaki disease). [provided by RefSeq, Jul 2008]

GeneCards Summary for NAGA Gene

NAGA (Alpha-N-Acetylgalactosaminidase) is a Protein Coding gene. Diseases associated with NAGA include Kanzaki Disease and Schindler Disease, Type I. Among its related pathways are Metabolism and Lysosome. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and alpha-galactosidase activity. An important paralog of this gene is GLA.

UniProtKB/Swiss-Prot for NAGA Gene

  • Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.

Gene Wiki entry for NAGA Gene

Additional gene information for NAGA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAGA Gene

Genomics for NAGA Gene

GeneHancer (GH) Regulatory Elements for NAGA Gene

Promoters and enhancers for NAGA Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J042069 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.3 336 2.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF143 SP3 NAGA SMDT1 CYP2D6 L3MBTL2 RRP7BP WBP2NL NDUFA6-DT GC22P042034 PIR41640
GH22J042612 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 47.3 -543.6 -543613 4.3 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 POLDIP3 ENSG00000270022 GC22P042614 GC22P042618 GC22P042619 RNU12 XRCC6 RPL5P34 NAGA RRP7BP
GH22J041284 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.4 +782.6 782550 8.1 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 ZNF610 RANGAP1 EP300 XRCC6 ENSG00000272834 EP300-AS1 ENSG00000232754 ENSG00000227413 L3MBTL2 NAGA ZC3H7B
GH22J041443 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.1 +624.2 624155 5.9 MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 ACO2 TOB2 LOC105373043 L3MBTL2 EP300 PHF5A ZC3H7B SLC25A17 XRCC6 ENSG00000232754
GH22J041666 Enhancer 1.3 Ensembl ENCODE 22.5 +403.4 403427 2.5 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B RN7SKP80 EP300 PHF5A POLDIP3 RRP7BP EP300-AS1 ENSG00000232754 XRCC6 SLC25A17 MEI1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NAGA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NAGA gene promoter:
  • AREB6
  • Max1
  • c-Myc
  • c-Myb
  • MyoD
  • GR-alpha
  • GR
  • AML1a

Genomic Locations for NAGA Gene

Genomic Locations for NAGA Gene
12,538 bases
Minus strand
12,509 bases
Minus strand

Genomic View for NAGA Gene

Genes around NAGA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NAGA Gene

Proteins for NAGA Gene

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

    Protein Symbol:
    Recommended name:
    Protein Accession:

    Protein attributes for NAGA Gene

    411 amino acids
    Molecular mass:
    46565 Da
    Quaternary structure:
    • Homodimer.
    • Alpha-galactosidase B was first found to be an isoenzyme of alpha-galactosidases, but apparently it differs from alpha-galactosidase A in substrate specificity and is alpha-N-acetylgalactosaminidase.
    • Sequence=AAA59902.1; Type=Frameshift; Positions=320; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NAGA Gene

neXtProt entry for NAGA Gene

Post-translational modifications for NAGA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt
  • Glycosylation from GlyConnect
    • NAGAB_HUMAN (45)

Other Protein References for NAGA Gene

Antibody Products

  • R&D Systems Antibodies for NAGA (alpha-N-acetylgalactosaminidase/NAGA)
  • Abcam antibodies for NAGA
  • Boster Bio Antibodies for NAGA
  • Santa Cruz Biotechnology (SCBT) Antibodies for NAGA

No data available for DME Specific Peptides for NAGA Gene

Domains & Families for NAGA Gene

Gene Families for NAGA Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for NAGA Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyl hydrolase 27 family.
  • Belongs to the glycosyl hydrolase 27 family.
genes like me logo Genes that share domains with NAGA: view

Function for NAGA Gene

Molecular function for NAGA Gene

UniProtKB/Swiss-Prot Function:
Removes terminal alpha-N-acetylgalactosamine residues from glycolipids and glycopeptides. Required for the breakdown of glycolipids.
UniProtKB/Swiss-Prot CatalyticActivity:
Cleavage of non-reducing alpha-(1->3)-N-acetylgalactosamine residues from human blood group A and AB mucin glycoproteins, Forssman hapten and blood group A lacto series glycolipids.
GENATLAS Biochemistry:
acetyl-galactosaminidase,alpha-N-,lyposomal,catalyzing the degradation of alpha-N-acetylgalactosaminyl-containing glycoconjugates

Enzyme Numbers (IUBMB) for NAGA Gene

Phenotypes From GWAS Catalog for NAGA Gene

Gene Ontology (GO) - Molecular Function for NAGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0004557 alpha-galactosidase activity IBA --
GO:0008456 alpha-N-acetylgalactosaminidase activity IDA,TAS 19683538
GO:0016787 hydrolase activity IEA --
GO:0016798 hydrolase activity, acting on glycosyl bonds IEA --
genes like me logo Genes that share ontologies with NAGA: view
genes like me logo Genes that share phenotypes with NAGA: view

Human Phenotype Ontology for NAGA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NAGA Gene

MGI Knock Outs for NAGA:
  • Naga Naga<tm1a(EUCOMM)Wtsi>

Animal Model Products

miRNA for NAGA Gene

miRTarBase miRNAs that target NAGA

Clone Products

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

Localization for NAGA Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAGA 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 NAGA gene
Compartment Confidence
extracellular 5
lysosome 5
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for NAGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005764 lysosome IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with NAGA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NAGA Gene

Pathways & Interactions for NAGA Gene

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

Pathways by source for NAGA Gene

Gene Ontology (GO) - Biological Process for NAGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0009311 oligosaccharide metabolic process IBA --
GO:0016052 carbohydrate catabolic process IDA 19683538
GO:0016139 glycoside catabolic process IBA --
genes like me logo Genes that share ontologies with NAGA: view

No data available for SIGNOR curated interactions for NAGA Gene

Drugs & Compounds for NAGA Gene

(6) Drugs for NAGA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Investigational Pharma Target 175
Water Approved Pharma 0
glucosamine 6-phosphate Experimental Pharma Target 0

(8) Additional Compounds for NAGA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 2-acetamido-2-Deoxy-beta-D-galactopyranoside
  • beta-GalNAc
  • BGalNAc
  • 2-acetamido-2-Deoxy-b-D-galactopyranoside
  • 2-acetamido-2-Deoxy-β-D-galactopyranoside
Tetrahexosylceramide (d18:1/12:0)
  • CQH
  • Cytolipin K
  • GalNAc-beta1->3gal-alpha1->3gal-beta1->4GLC-beta1->1'cer
  • Ganglioside GB4
  • Ganglioside GL 4
genes like me logo Genes that share compounds with NAGA: view

Transcripts for NAGA Gene

mRNA/cDNA for NAGA Gene

Unigene Clusters for NAGA Gene

N-acetylgalactosaminidase, alpha-:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10
SP2: -
SP4: -

Relevant External Links for NAGA Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NAGA Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NAGA Gene

This gene is overexpressed in Whole Blood (x4.1).

Protein differential expression in normal tissues from HIPED for NAGA Gene

This gene is overexpressed in Cerebrospinal fluid (17.0).

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

Protein tissue co-expression partners for NAGA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NAGA Gene:


SOURCE GeneReport for Unigene cluster for NAGA Gene:


Evidence on tissue expression from TISSUES for NAGA Gene

  • Liver(4.4)
  • Lung(4.3)
  • Nervous system(2.5)
  • Kidney(2.1)
  • Blood(2)
  • Intestine(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
  • kidney
  • liver
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • hair
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with NAGA: view

No data available for mRNA Expression by UniProt/SwissProt for NAGA Gene

Orthologs for NAGA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NAGA Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NAGA 34 33
  • 99.68 (n)
(Bos Taurus)
Mammalia NAGA 34 33
  • 87.83 (n)
(Canis familiaris)
Mammalia NAGA 34 33
  • 87.27 (n)
(Rattus norvegicus)
Mammalia Naga 33
  • 83.5 (n)
(Mus musculus)
Mammalia Naga 16 34 33
  • 81.99 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 75 (a)
-- 34
  • 66 (a)
(Monodelphis domestica)
Mammalia NAGA 34
  • 72 (a)
(Gallus gallus)
Aves NAGA 34 33
  • 73.96 (n)
(Anolis carolinensis)
Reptilia NAGA 34
  • 70 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia naga 33
  • 56.93 (n)
(Danio rerio)
Actinopterygii naga 34 33
  • 67 (n)
Dr.11718 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009621 33
  • 59.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5731 34 35 33
  • 57.91 (n)
CG7997 34 35
  • 45 (a)
(Caenorhabditis elegans)
Secernentea gana-1 34 33
  • 48.65 (n)
R07B7.11 35
  • 45 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G56310 33
  • 50.2 (n)
(Oryza sativa)
Liliopsida Os07g0679300 33
  • 49.12 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
Species where no ortholog for NAGA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NAGA Gene

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

Paralogs for NAGA Gene

Paralogs for NAGA Gene

(1) SIMAP similar genes for NAGA Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NAGA: view

Variants for NAGA Gene

Sequence variations from dbSNP and Humsavar for NAGA Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1063392 benign, Schindler disease, type 1, Kanzaki disease 42,058,946(-) A/G 3_prime_UTR_variant
rs10713176 benign, uncertain-significance, Kanzaki disease, Schindler disease, type 1 42,058,490(-) AAAAAAAAAAA/AAAAAAAAA/AAAAAAAAAA 3_prime_UTR_variant
rs11703233 uncertain-significance, Schindler disease, type 1, Kanzaki disease 42,058,583(-) G/A 3_prime_UTR_variant
rs121434529 pathogenic, Schindler disease, type 1, not provided, Alpha-N-acetylgalactosaminidase deficiency, Schindler disease (SCHIND) [MIM:609241] 42,061,052(-) C/T coding_sequence_variant, missense_variant
rs121434530 pathogenic, Kanzaki disease, Kanzaki disease (KANZD) [MIM:609242] 42,061,040(-) G/A coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv508737 CNV insertion 20534489
nsv834210 CNV loss 17160897

Variation tolerance for NAGA Gene

Residual Variation Intolerance Score: 38.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NAGA Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NAGA Gene

MalaCards: The human disease database

(16) MalaCards diseases for NAGA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
kanzaki disease
  • alpha-n-acetylgalactosaminidase deficiency, type ii
schindler disease, type i
  • neuroaxonal dystrophy, schindler type
schindler disease
  • schindler disease, type i
neuroaxonal dystrophy
  • neuroaxonal dystrophies
  • angiokeratoma of skin
- elite association - COSMIC cancer census association via MalaCards
Search NAGA in MalaCards View complete list of genes associated with diseases


  • Schindler disease (SCHIND) [MIM:609241]: Form of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). NAGA deficiency is typically classified in three main phenotypes: NAGA deficiency type I (Schindler disease or Schindler disease type I) with severe manifestations; NAGA deficiency type II (Kanzazi disease or Schindler disease type II) which is mild; NAGA deficiency type III (Schindler disease type III) characterized by mild-to-moderate neurologic manifestations. NAGA deficiency results in the increased urinary excretion of glycopeptides and oligosaccharides containing alpha-N-acetylgalactosaminyl moieties. Inheritance is autosomal recessive. {ECO:0000269 PubMed:2243144, ECO:0000269 PubMed:8782044}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Kanzaki disease (KANZD) [MIM:609242]: Autosomal recessive disorder characterized by late-onset, angiokeratoma corporis diffusum and mild intellectual impairment. {ECO:0000269 PubMed:11251574, ECO:0000269 PubMed:8040340}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for NAGA Gene

angiokeratoma corporis diffusum with glycopeptiduria,Schindler,Seitelberger disease,neuroaxonal dystrophy,infantile and adult types

Additional Disease Information for NAGA

genes like me logo Genes that share disorders with NAGA: view

Publications for NAGA Gene

  1. The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseases. (PMID: 19683538) Clark NE … Garman SC (Journal of molecular biology 2009) 3 4 22 58
  2. A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation. (PMID: 11251574) Kodama K … Kanzaki T (The British journal of dermatology 2001) 3 4 22 58
  3. Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts. (PMID: 9741689) Asfaw B … Conzelmann E (Journal of lipid research 1998) 3 4 22 58
  4. Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype. (PMID: 8782044) Keulemans JL … van Diggelen OP (Journal of medical genetics 1996) 3 4 22 58
  5. The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. (PMID: 8040340) Wang AM … Desnick RJ (The Journal of clinical investigation 1994) 3 4 22 58

Products for NAGA Gene

Sources for NAGA Gene

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