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Aliases for GALNT9 Gene

Aliases for GALNT9 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 9 2 3 4 5
  • Polypeptide GalNAc Transferase 9 2 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 9 (GalNAc-T9) 2 3
  • Protein-UDP Acetylgalactosaminyltransferase 9 3 4
  • Pp-GaNTase 9 3 4
  • EC 2.4.1.41 4 56
  • UDP-GalNAc: Polypeptide N-Acetylgalactosaminyltransferase 9 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 9 4
  • GalNAc Transferase 9 3
  • GALNAC-T9 3
  • GalNAc-T9 4
  • GALNACT9 3

External Ids for GALNT9 Gene

Previous GeneCards Identifiers for GALNT9 Gene

  • GC00U990692
  • GC12U900004
  • GC12M132561
  • GC12M131176
  • GC12M131177
  • GC12M131347
  • GC12M132680
  • GC12M129565

Summaries for GALNT9 Gene

Entrez Gene Summary for GALNT9 Gene

  • This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GALNT9 Gene

GALNT9 (Polypeptide N-Acetylgalactosaminyltransferase 9) is a Protein Coding gene. Among its related pathways are O-linked glycosylation and Mucin type O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT17.

UniProtKB/Swiss-Prot for GALNT9 Gene

  • Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Does not glycosylate apomucin or SDC3.

Additional gene information for GALNT9 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GALNT9 Gene

Genomics for GALNT9 Gene

GeneHancer (GH) Regulatory Elements for GALNT9 Gene

Promoters and enhancers for GALNT9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J132326 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE 625.2 +1.7 1747 1.3 PRDM1 ZNF600 CEBPA ZNF341 CEBPB MAX MXI1 ZBTB17 EP300 STAT1 GALNT9 LOC101928416 PIR56314
GH12J132204 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 600.1 +126.4 126438 10.5 ZNF121 ZNF600 MNT RAD51 IKZF1 ZKSCAN1 POLR2A ZFHX2 HIC1 EZH2 GALNT9 LINC02361 POLE ZNF84 ENSG00000279480 LOC105370091 GC12P132252
GH12J132329 Promoter 0.8 Ensembl 600.7 0.0 -12 0.4 GLIS2 REST EZH2 SIN3A GALNT9 LOC101928416
GH12J132142 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.6 +185.4 185388 3.2 MTA3 SP1 ZFX ELF3 MNT SIX5 NKRF POLR2A CEBPG GTF2F1 DDX51 NOC4L EP400 SFSWAP ZNF140 ZNF891 EP400P1 GALNT9 GOLGA3 ZNF605
GH12J132597 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE 10.6 -271.3 -271281 6.9 CC2D1A CTCF ELF3 ZNF148 MLLT1 ZNF121 CEBPG GTF2F1 ZSCAN21 MCM2 ZNF140 EP400 ZNF84 ZNF268 ZNF26 ZNF891 GOLGA3 ZNF605 DDX51 ANKLE2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GALNT9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GALNT9 gene promoter:
  • AREB6
  • Arnt
  • Cdc5
  • Nkx3-1
  • Nkx3-1 v1
  • p53
  • Pbx1a

Genomic Locations for GALNT9 Gene

Genomic Locations for GALNT9 Gene
chr12:132,196,372-132,329,589
(GRCh38/hg38)
Size:
133,218 bases
Orientation:
Minus strand
chr12:132,680,917-132,905,935
(GRCh37/hg19)
Size:
225,019 bases
Orientation:
Minus strand

Genomic View for GALNT9 Gene

Genes around GALNT9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNT9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNT9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNT9 Gene

Proteins for GALNT9 Gene

  • Protein details for GALNT9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCQ5-GALT9_HUMAN
    Recommended name:
    Polypeptide N-acetylgalactosaminyltransferase 9
    Protein Accession:
    Q9HCQ5
    Secondary Accessions:
    • Q52LR8
    • Q6NT54
    • Q8NFR1

    Protein attributes for GALNT9 Gene

    Size:
    603 amino acids
    Molecular mass:
    68359 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GALNT9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALNT9 Gene

Selected DME Specific Peptides for GALNT9 Gene

Q9HCQ5:
  • RAAEVWMD
  • GLIRARL
  • IFVNEALS

Post-translational modifications for GALNT9 Gene

  • Glycosylation at isoforms=2460
  • Modification sites at PhosphoSitePlus

Other Protein References for GALNT9 Gene

Domains & Families for GALNT9 Gene

Gene Families for GALNT9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for GALNT9 Gene

GenScript: Design optimal peptide antigens:
  • GALNT9 protein (B2RXG6_HUMAN)
  • cDNA FLJ30258 fis, clone BRACE2002468, highly similar to Polypeptide N-acetylgalactosaminyltransferase 9 (EC 2.4.1.41) (B3KNR7_HUMAN)
  • UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 9 (GALT9_HUMAN)
  • Polypeptide N-acetylgalactosaminyltransferase 9 (Q68VJ2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HCQ5

UniProtKB/Swiss-Prot:

GALT9_HUMAN :
  • There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
Domain:
  • There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding.
  • The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.
Family:
  • Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.
genes like me logo Genes that share domains with GALNT9: view

Function for GALNT9 Gene

Molecular function for GALNT9 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Does not glycosylate apomucin or SDC3.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:23956, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:12788, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:53604, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138; EC=2.4.1.41; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-threonyl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:52424, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11689, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:87075; EC=2.4.1.41; Evidence=. ;.

Enzyme Numbers (IUBMB) for GALNT9 Gene

Phenotypes From GWAS Catalog for GALNT9 Gene

Gene Ontology (GO) - Molecular Function for GALNT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity NAS 10978536
GO:0005515 protein binding IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with GALNT9: view
genes like me logo Genes that share phenotypes with GALNT9: view

Animal Model Products

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for GALNT9 - Now 50% OFF >
  • * GALNT9 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * GALNT9 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GALNT9 Gene

Localization for GALNT9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNT9 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
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 GALNT9 gene
Compartment Confidence
golgi apparatus 4
extracellular 2
endoplasmic reticulum 1
peroxisome 0
nucleus 0
cytosol 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GALNT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GALNT9: view

Pathways & Interactions for GALNT9 Gene

genes like me logo Genes that share pathways with GALNT9: view

Pathways by source for GALNT9 Gene

UniProtKB/Swiss-Prot Q9HCQ5-GALT9_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for GALNT9 Gene

Gene Ontology (GO) - Biological Process for GALNT9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006493 protein O-linked glycosylation NAS 10978536
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with GALNT9: view

No data available for SIGNOR curated interactions for GALNT9 Gene

Drugs & Compounds for GALNT9 Gene

(3) Drugs for GALNT9 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7611
Manganese Approved Nutra 41
Uridine 5'-diphosphate Experimental Pharma 0

(3) Additional Compounds for GALNT9 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Lactosamine
  • 2-amino-2-Deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-amino-2-Deoxy-4-O-beta-delta-galactopyranosyl-delta-glucose
  • beta-D-Galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
  • beta-D-Galactopyranosyl-(1->4)-D-glucosamine
  • beta-delta-Galactopyranosyl-(1->4)-2-amino-2-deoxy-delta-glucose
13000-25-4
UDP-N-acetyl-alpha-D-galactosamine
  • (2R,3R,4R,5R,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphate (non-preferred name)
  • URIDINE-diphosphATE-N-acetylgalactosamine
  • (2R,3R,4R,5R,6R)-3-(acetylamino)-4,5-Dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl [(2R,3S,4R,5R)-5-(2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-3,4-dihydroxytetrahydrofuran-2-yl]methyl dihydrogen diphosphoric acid (non-preferred name)
  • UDP-N-Acetyl-a-D-galactosamine
  • UDP-N-Acetyl-α-D-galactosamine
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with GALNT9: view

Transcripts for GALNT9 Gene

mRNA/cDNA for GALNT9 Gene

(2) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for GALNT9 Gene

UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9):
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for GALNT9 - Now 50% OFF >
  • * GALNT9 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * GALNT9 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for GALNT9 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b · 18c
SP1: - - - - - - - - - -
SP2: - - - - -
SP3: - -
SP4:
SP5:
SP6:
SP7:

Relevant External Links for GALNT9 Gene

GeneLoc Exon Structure for
GALNT9
ECgene alternative splicing isoforms for
GALNT9

Expression for GALNT9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GALNT9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GALNT9 Gene

This gene is overexpressed in Brain - Cerebellum (x10.9), Brain - Cerebellar Hemisphere (x10.2), Brain - Cortex (x6.8), Brain - Frontal Cortex (BA9) (x5.1), and Brain - Anterior cingulate cortex (BA24) (x4.5).

Protein differential expression in normal tissues from HIPED for GALNT9 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for GALNT9 Gene



Protein tissue co-expression partners for GALNT9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GALNT9 Gene:

GALNT9

SOURCE GeneReport for Unigene cluster for GALNT9 Gene:

Hs.301062

mRNA Expression by UniProt/SwissProt for GALNT9 Gene:

Q9HCQ5-GALT9_HUMAN
Tissue specificity: Specifically expressed in brain. Not expressed in heart, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocyte. In brain, it is expressed in cerebellum, frontal lobe, temporal lobe, putamen and spinal cord, weakly expressed in cerebral cortex. Not expressed in medulla and occipital pole.

Evidence on tissue expression from TISSUES for GALNT9 Gene

  • Nervous system(4.7)
  • Kidney(4.1)
  • Intestine(4)
  • Blood(2.3)
genes like me logo Genes that share expression patterns with GALNT9: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GALNT9 Gene

Orthologs for GALNT9 Gene

This gene was present in the common ancestor of animals.

Orthologs for GALNT9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALNT9 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Galnt9 17 35 34
  • 86.01 (n)
rat
(Rattus norvegicus)
Mammalia Galnt9 34
  • 85.71 (n)
dog
(Canis familiaris)
Mammalia GALNT9 34 35
  • 85.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GALNT9 35
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GALNT9 35
  • 41 (a)
OneToOne
cow
(Bos Taurus)
Mammalia WBSCR17 35
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALNT9 34 35
  • 79.38 (n)
lizard
(Anolis carolinensis)
Reptilia GALNT9 35
  • 31 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galnt9 34
  • 74.07 (n)
zebrafish
(Danio rerio)
Actinopterygii galnt9 34
  • 75.23 (n)
GALNT9 35
  • 33 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7304 36
  • 32 (a)
CG7579 35
  • 11 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gly-8 35
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
ManyToMany
Species where no ortholog for GALNT9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GALNT9 Gene

ENSEMBL:
Gene Tree for GALNT9 (if available)
TreeFam:
Gene Tree for GALNT9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GALNT9: view image

Paralogs for GALNT9 Gene

(24) SIMAP similar genes for GALNT9 Gene using alignment to 8 proteins:

  • GALT9_HUMAN
  • B2RXG6_HUMAN
  • B3KNR7_HUMAN
  • F5H317_HUMAN
  • F5H557_HUMAN
  • H3BM10_HUMAN
  • J3KNN1_HUMAN
  • Q68VJ2_HUMAN
genes like me logo Genes that share paralogs with GALNT9: view

Variants for GALNT9 Gene

Sequence variations from dbSNP and Humsavar for GALNT9 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000006615 -- 132,273,680(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000029454 -- 132,205,607(-) G/A 5_prime_UTR_variant, intron_variant
rs1000059842 -- 132,202,200(-) G/T intron_variant
rs1000062614 -- 132,278,381(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000119888 -- 132,208,555(-) T/C/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GALNT9 Gene

Variant ID Type Subtype PubMed ID
dgv103n21 CNV loss 19592680
dgv215e201 CNV deletion 23290073
dgv216e201 CNV deletion 23290073
dgv217e201 CNV deletion 23290073
dgv3019n54 CNV loss 21841781
dgv3022n54 CNV gain 21841781
dgv3023n54 CNV loss 21841781
dgv3024n54 CNV loss 21841781
dgv3025n54 CNV loss 21841781
dgv3026n54 CNV loss 21841781
dgv910n106 CNV insertion 24896259
dgv912n106 CNV deletion 24896259
esv1002994 CNV insertion 20482838
esv1160630 CNV deletion 17803354
esv1257970 CNV deletion 17803354
esv1462855 CNV deletion 17803354
esv1766304 CNV deletion 17803354
esv1994448 CNV deletion 18987734
esv2473849 CNV deletion 19546169
esv25270 CNV loss 19812545
esv26563 CNV gain 19812545
esv2658877 CNV deletion 23128226
esv2665547 CNV deletion 23128226
esv2670347 CNV deletion 23128226
esv2673626 CNV deletion 23128226
esv2746924 CNV deletion 23290073
esv2746925 CNV deletion 23290073
esv2746926 CNV deletion 23290073
esv2746927 CNV deletion 23290073
esv2746928 CNV deletion 23290073
esv2746931 CNV deletion 23290073
esv2746932 CNV deletion 23290073
esv2746933 CNV deletion 23290073
esv2746934 CNV deletion 23290073
esv2746935 CNV deletion 23290073
esv2746936 CNV deletion 23290073
esv2746937 CNV deletion 23290073
esv2746938 CNV deletion 23290073
esv2746939 CNV deletion 23290073
esv2746940 CNV deletion 23290073
esv2746942 CNV deletion 23290073
esv2746943 CNV deletion 23290073
esv2746944 CNV deletion 23290073
esv2746945 CNV deletion 23290073
esv2746946 CNV deletion 23290073
esv2746948 CNV deletion 23290073
esv2746950 CNV deletion 23290073
esv2746951 CNV deletion 23290073
esv2746953 CNV deletion 23290073
esv27874 CNV loss 19812545
esv2911272 CNV insertion 24192839
esv29785 CNV gain 19812545
esv3328809 CNV insertion 20981092
esv3379583 CNV duplication 20981092
esv3550080 CNV deletion 23714750
esv3550081 CNV deletion 23714750
esv3580551 CNV loss 25503493
esv3631288 CNV gain 21293372
esv3631290 CNV gain 21293372
esv3631291 CNV gain 21293372
esv3631292 CNV loss 21293372
esv3631293 CNV gain 21293372
esv3892285 CNV gain 25118596
esv991305 CNV insertion 20482838
esv996584 CNV deletion 20482838
esv998915 CNV loss 20482838
nsv1041402 CNV gain 25217958
nsv1070154 CNV deletion 25765185
nsv1071076 CNV deletion 25765185
nsv1078202 CNV insertion 25765185
nsv1113540 CNV deletion 24896259
nsv1118256 CNV deletion 24896259
nsv1142823 CNV tandem duplication 24896259
nsv1152646 CNV insertion 26484159
nsv428285 CNV gain 18775914
nsv470333 CNV loss 18288195
nsv475548 CNV novel sequence insertion 20440878
nsv479452 CNV novel sequence insertion 20440878
nsv512300 CNV loss 21212237
nsv512301 CNV loss 21212237
nsv520897 CNV loss 19592680
nsv52579 CNV deletion 16902084
nsv528119 CNV loss 19592680
nsv52990 CNV insertion 16902084
nsv53189 CNV insertion 16902084
nsv560966 CNV gain 21841781
nsv560980 CNV loss 21841781
nsv560988 CNV gain+loss 21841781
nsv560996 CNV loss 21841781
nsv560997 CNV loss 21841781
nsv560998 CNV loss 21841781
nsv826563 CNV gain 20364138
nsv826565 CNV gain+loss 20364138
nsv826566 CNV gain 20364138
nsv952512 CNV deletion 24416366

Variation tolerance for GALNT9 Gene

Residual Variation Intolerance Score: 70.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.00; 60.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GALNT9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALNT9
Human Gene Mutation Database (HGMD)
GALNT9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNT9 Gene

Disorders for GALNT9 Gene

Additional Disease Information for GALNT9

No disorders were found for GALNT9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GALNT9 Gene

Publications for GALNT9 Gene

  1. Cloning and characterization of a new human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase, designated pp-GalNAc-T13, that is specifically expressed in neurons and synthesizes GalNAc alpha-serine/threonine antigen. (PMID: 12407114) Zhang Y … Narimatsu H (The Journal of biological chemistry 2003) 2 3 4 58
  2. Brain-specific expression of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T9). (PMID: 10978536) Toba S … Kurosaka A (Biochimica et biophysica acta 2000) 2 3 4 58
  3. Systematic Analysis of Human Protein Phosphatase Interactions and Dynamics. (PMID: 28330616) Yadav L … Varjosalo M (Cell systems 2017) 3 58
  4. GALNT9 gene expression is a prognostic marker in neuroblastoma patients. (PMID: 23136245) Berois N … Osinaga E (Clinical chemistry 2013) 3 58
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 58

Products for GALNT9 Gene

Sources for GALNT9 Gene

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