This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. ... See more...

Aliases for GALNT7 Gene

Aliases for GALNT7 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 7 2 3 5
  • Polypeptide GalNAc Transferase 7 2 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 7 (GalNAc-T7) 2 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 7 3 4
  • Protein-UDP Acetylgalactosaminyltransferase 7 3 4
  • N-Acetylgalactosaminyltransferase 7 3 4
  • Pp-GaNTase 7 3 4
  • EC 2.4.1.41 4 51
  • GALNAC-T7 2 3
  • EC 2.4.1.37 51
  • GalNAc-T7 4
  • GalNAcT7 3
  • EC 2.4.1 51
  • GALNT7 5

External Ids for GALNT7 Gene

Previous GeneCards Identifiers for GALNT7 Gene

  • GC04P175010
  • GC04P174627
  • GC04P174785
  • GC04P174464
  • GC04P174326
  • GC04P174089
  • GC04P169916

Summaries for GALNT7 Gene

Entrez Gene Summary for GALNT7 Gene

  • This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]

GeneCards Summary for GALNT7 Gene

GALNT7 (Polypeptide N-Acetylgalactosaminyltransferase 7) is a Protein Coding gene. Among its related pathways are O-linked glycosylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT1.

UniProtKB/Swiss-Prot Summary for GALNT7 Gene

  • Glycopeptide transferase involved in O-linked oligosaccharide biosynthesis, which catalyzes the transfer of an N-acetyl-D-galactosamine residue to an already glycosylated peptide. In contrast to other proteins of the family, it does not act as a peptide transferase that transfers GalNAc onto serine or threonine residue on the protein receptor, but instead requires the prior addition of a GalNAc on a peptide before adding additional GalNAc moieties. Some peptide transferase activity is however not excluded, considering that its appropriate peptide substrate may remain unidentified.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GALNT7 Gene

Genomics for GALNT7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GALNT7 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
GH04J173167 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.8 790 5.2 TBP FEZF1 NR2C1 MNT IKZF1 ZFP64 POLR2A ELF1 CTCF ZIC2 LOC101930370 GALNT7 HMGB2
GH04J173332 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 4.8 +165.1 165096 5.8 CHD2 ZBTB10 SP1 MXD4 CEBPA MNT IKZF1 SMAD5 HES1 MBD2 HMGB2 LOC105377541 lnc-SAP30-1-001 SAP30 CEP44 SCRG1 GALNT7 ENSG00000248774 lnc-GALNT7-1
GH04J173208 Enhancer 1.2 Ensembl ENCODE dbSUPER 6.4 +42.0 42004 5.6 ZNF217 MNT IKZF1 BHLHE40 ELF1 REST MBD2 MAX EP300 TAL1 HSALNG0038579 LOC101930370 GALNT7 lnc-HMGB2-8 HMGB2
GH04J173217 Enhancer 1.2 Ensembl ENCODE dbSUPER 5.9 +49.9 49914 3 FEZF1 IKZF1 MBD2 ZEB1 ZIC2 ARNT NBN TAL1 ZNF843 ZFP91 LOC101930370 GALNT7 HSALNG0038579 lnc-HMGB2-8 HMGB2
GH04J173241 Enhancer 0.9 Ensembl ENCODE dbSUPER 6.9 +76.3 76283 6.2 EBF1 PRDM6 INSM2 JUND SP7 SPI1 OSR2 NANOG FOS RUNX3 MIR548T LOC101930370 GALNT7 lnc-HMGB2-8 lnc-HMGB2-2 HMGB2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GALNT7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GALNT7

Top Transcription factor binding sites by QIAGEN in the GALNT7 gene promoter:
  • AML1a
  • Evi-1
  • FOXD3
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXL1
  • POU2F1
  • POU2F1a
  • RSRFC4
  • Sox9

Genomic Locations for GALNT7 Gene

Latest Assembly
chr4:173,168,811-173,323,967
(GRCh38/hg38)
Size:
155,157 bases
Orientation:
Plus strand

Previous Assembly
chr4:174,089,962-174,245,118
(GRCh37/hg19 by Entrez Gene)
Size:
155,157 bases
Orientation:
Plus strand

chr4:174,089,904-174,245,118
(GRCh37/hg19 by Ensembl)
Size:
155,215 bases
Orientation:
Plus strand

Genomic View for GALNT7 Gene

Genes around GALNT7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNT7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNT7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNT7 Gene

Proteins for GALNT7 Gene

  • Protein details for GALNT7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86SF2-GALT7_HUMAN
    Recommended name:
    N-acetylgalactosaminyltransferase 7
    Protein Accession:
    Q86SF2
    Secondary Accessions:
    • B3KQU3
    • Q7Z5W7
    • Q9UJ28

    Protein attributes for GALNT7 Gene

    Size:
    657 amino acids
    Molecular mass:
    75389 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GALNT7 Gene

neXtProt entry for GALNT7 Gene

Selected DME Specific Peptides for GALNT7 Gene

Q86SF2:
  • MAGGLFA
  • ENLLTSS
  • QASIKEFGFNM
  • RTVHSVI
  • ASDMISLDRSVNDLRQEECKYWHYDENLLTSSVVIVFHNE
  • GNTYEIIPQGGGDEDGYARGAWDWSMLWKRVPLT
  • SGKCLDRSEVLHQVFIS
  • NCKSFKWFM
  • PCSRVGH

Post-translational modifications for GALNT7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for GALNT7 Gene

Gene Families for GALNT7 Gene

Protein Domains for GALNT7 Gene

InterPro:
Blocks:
  • Ricin B lectin domain
  • Glycosyl transferase, family 2
ProtoNet:

Suggested Antigen Peptide Sequences for GALNT7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57113, highly similar to N-acetylgalactosaminyltransferase 7 (EC 2.4.1.-) (B4DIB4_HUMAN)
  • UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 7 (GALT7_HUMAN)
  • Polypeptide N-acetylgalactosaminyltransferase 7 (Q68VJ4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86SF2

UniProtKB/Swiss-Prot:

GALT7_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 GALNT7: view

Function for GALNT7 Gene

Molecular function for GALNT7 Gene

UniProtKB/Swiss-Prot Function:
Glycopeptide transferase involved in O-linked oligosaccharide biosynthesis, which catalyzes the transfer of an N-acetyl-D-galactosamine residue to an already glycosylated peptide. In contrast to other proteins of the family, it does not act as a peptide transferase that transfers GalNAc onto serine or threonine residue on the protein receptor, but instead requires the prior addition of a GalNAc on a peptide before adding additional GalNAc moieties. Some peptide transferase activity is however not excluded, considering that its appropriate peptide substrate may remain unidentified.
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={ECO:0000269|PubMed:10544240, ECO:0000269|PubMed:11925450};.
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={ECO:0000269|PubMed:10544240, ECO:0000269|PubMed:11925450};.

Enzyme Numbers (IUBMB) for GALNT7 Gene

Phenotypes From GWAS Catalog for GALNT7 Gene

Gene Ontology (GO) - Molecular Function for GALNT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004653 polypeptide N-acetylgalactosaminyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0030246 carbohydrate binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GALNT7: view
genes like me logo Genes that share phenotypes with GALNT7: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GALNT7

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GALNT7 Gene

Localization for GALNT7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNT7 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 GALNT7 gene
Compartment Confidence
golgi apparatus 5
extracellular 4
endoplasmic reticulum 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GALNT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA,TAS --
GO:0005794 Golgi apparatus IEA,IBA 21873635
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with GALNT7: view

Pathways & Interactions for GALNT7 Gene

genes like me logo Genes that share pathways with GALNT7: view

UniProtKB/Swiss-Prot Q86SF2-GALT7_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for GALNT7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 10544240
GO:0006486 protein glycosylation IEA --
GO:0006493 protein O-linked glycosylation IEA,TAS 10544240
GO:0016266 O-glycan processing TAS --
GO:0018215 protein phosphopantetheinylation IEA --
genes like me logo Genes that share ontologies with GALNT7: view

No data available for SIGNOR curated interactions for GALNT7 Gene

Drugs & Compounds for GALNT7 Gene

(3) Drugs for GALNT7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 64
Uridine 5'-diphosphate Experimental Pharma 0
Calcium Nutra 6876

(2) Additional Compounds for GALNT7 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
Uridine diphosphate-N-acetylgalactosamine
  • Uridine diphosphoric acid-N-acetylgalactosamine
  • N-[2-({[({[3,4-dihydroxy-5-(4-hydroxy-2-oxo-1,2-dihydropyrimidin-1-yl)oxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxy](hydroxy)phosphoryl}oxy)-4,5-dihydroxy-6-(hydroxymethyl)oxan-3-yl]ethanimidate
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
7277-98-7
genes like me logo Genes that share compounds with GALNT7: view

Transcripts for GALNT7 Gene

mRNA/cDNA for GALNT7 Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 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 GALNT7

Alternative Splicing Database (ASD) splice patterns (SP) for GALNT7 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b
SP1: - - - -
SP2:
SP3:
SP4:
SP5:

Relevant External Links for GALNT7 Gene

GeneLoc Exon Structure for
GALNT7

Expression for GALNT7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GALNT7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GALNT7 Gene

This gene is overexpressed in Oral epithelium (20.6) and Breast (11.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GALNT7 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GALNT7

SOURCE GeneReport for Unigene cluster for GALNT7 Gene:

Hs.548088

mRNA Expression by UniProt/SwissProt for GALNT7 Gene:

Q86SF2-GALT7_HUMAN
Tissue specificity: Widely expressed. Expressed in uterus, retina, kidney, small intestine, omentum, stomach and CNS.

Evidence on tissue expression from TISSUES for GALNT7 Gene

  • Nervous system(3.5)
  • Intestine(3)
  • Lung(2.8)
  • Stomach(2.7)
  • Gall bladder(2.3)
genes like me logo Genes that share expression patterns with GALNT7: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GALNT7 Gene

Orthologs for GALNT7 Gene

This gene was present in the common ancestor of animals.

Orthologs for GALNT7 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GALNT7 30 31
  • 99.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GALNT7 31
  • 96 (a)
OneToOne
LOC102152620 30
  • 94.06 (n)
Rat
(Rattus norvegicus)
Mammalia Galnt7 30
  • 90.26 (n)
Mouse
(Mus musculus)
Mammalia Galnt7 30 17 31
  • 88.89 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GALNT7 30 31
  • 88.76 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GALNT7 31
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GALNT7 31
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GALNT7 30 31
  • 81.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GALNT7 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia galnt7 30
  • 73.31 (n)
Zebrafish
(Danio rerio)
Actinopterygii galnt7 30 31
  • 70.4 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta GalNAc-T2 30 31
  • 50.23 (n)
OneToOne
CG2103 32
  • 37 (a)
CG6394 32
  • 36 (a)
CG7297 32
  • 34 (a)
CG7304 32 32
  • 33 (a)
CG7579 32 32
  • 30 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000656 30
  • 49.57 (n)
Worm
(Caenorhabditis elegans)
Secernentea gly-7 30 31 32
  • 51.18 (n)
OneToOne
Y45F10D.3 32
  • 40 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 56 (a)
OneToOne
Species where no ortholog for GALNT7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 (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 GALNT7 Gene

ENSEMBL:
Gene Tree for GALNT7 (if available)
TreeFam:
Gene Tree for GALNT7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GALNT7: view image

Paralogs for GALNT7 Gene

(21) SIMAP similar genes for GALNT7 Gene using alignment to 6 proteins:

  • GALT7_HUMAN
  • E9PBY3_HUMAN
  • H0YAH3_HUMAN
  • H0YAK0_HUMAN
  • Q4W5F7_HUMAN
  • Q68VJ4_HUMAN
genes like me logo Genes that share paralogs with GALNT7: view

Variants for GALNT7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GALNT7 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs35177744 Benign: not provided 173,302,131(+) T/C
NM_017423.3(GALNT7):c.1233T>C (p.Ile411=)
SYNONYMOUS_VARIANT,INTRON
rs61741158 Benign: not provided 173,314,029(+) G/T
NM_017423.3(GALNT7):c.1461G>T (p.Ser487=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GALNT7 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 GALNT7 Gene

Variant ID Type Subtype PubMed ID
dgv9397n54 CNV gain 21841781
esv24067 CNV loss 19812545
esv3303175 CNV mobile element insertion 20981092
esv3307933 CNV mobile element insertion 20981092
esv3340436 CNV insertion 20981092
esv3351993 CNV insertion 20981092
esv3397362 CNV insertion 20981092
esv3603210 CNV loss 21293372
nsv1074239 CNV deletion 25765185
nsv1120145 OTHER inversion 24896259
nsv4610 CNV deletion 18451855
nsv518900 CNV gain 19592680
nsv527434 CNV gain 19592680
nsv596224 CNV loss 21841781
nsv596232 CNV gain 21841781

Variation tolerance for GALNT7 Gene

Residual Variation Intolerance Score: 33.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.31; 41.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GALNT7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALNT7

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNT7 Gene

Disorders for GALNT7 Gene

Additional Disease Information for GALNT7

No disorders were found for GALNT7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GALNT7 Gene

Publications for GALNT7 Gene

  1. A novel human UDP-N-acetyl-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T7, with specificity for partial GalNAc-glycosylated acceptor substrates. (PMID: 10544240) Bennett EP … Clausen H (FEBS letters 1999) 2 3 4
  2. MicroRNA miR-378 regulates nephronectin expression modulating osteoblast differentiation by targeting GalNT-7. (PMID: 19844573) Kahai S … Yang BB (PloS one 2009) 3 23
  3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export. (PMID: 33144569) van den Boomen DJH … Lehner PJ (Nature communications 2020) 3

Products for GALNT7 Gene

Sources for GALNT7 Gene