This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in thi... See more...

Aliases for GALNT14 Gene

Aliases for GALNT14 Gene

  • Polypeptide N-Acetylgalactosaminyltransferase 14 2 3 4 5
  • Polypeptide GalNAc Transferase 14 2 3 4
  • UDP-N-Acetyl-Alpha-D-Galactosamine:Polypeptide N-Acetylgalactosaminyltransferase 14 (GalNAc-T14) 2 3
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase 14 3 4
  • Protein-UDP Acetylgalactosaminyltransferase 14 3 4
  • Pp-GaNTase 14 3 4
  • EC 2.4.1.41 4 54
  • UDP-GalNAc:Polypeptide N-Acetylgalactosaminyltransferase T10 3
  • Polypeptide N-Acetylgalactosaminyltransferase 15 3
  • GalNac-T10 3
  • GalNac-T14 3
  • GalNAc-T14 4
  • GALNT15 3

External Ids for GALNT14 Gene

Previous GeneCards Identifiers for GALNT14 Gene

  • GC02M031107
  • GC02M031044
  • GC02M030871

Summaries for GALNT14 Gene

Entrez Gene Summary for GALNT14 Gene

  • This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]

GeneCards Summary for GALNT14 Gene

GALNT14 (Polypeptide N-Acetylgalactosaminyltransferase 14) is a Protein Coding gene. Diseases associated with GALNT14 include Corneal Ectasia. Among its related pathways are Metabolism and O-linked glycosylation. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and polypeptide N-acetylgalactosaminyltransferase activity. An important paralog of this gene is GALNT16.

UniProtKB/Swiss-Prot Summary for GALNT14 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. Displays activity toward mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in kidney.

Gene Wiki entry for GALNT14 Gene

Additional gene information for GALNT14 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GALNT14 Gene

Genomics for GALNT14 Gene

GeneHancer (GH) Regulatory Elements for GALNT14 Gene

Promoters and enhancers for GALNT14 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
GH02J031137 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 754.9 +23.7 23688 3.2 CTCF USF2 ZBTB33 ZSCAN21 KLF14 ZNF547 DPF2 GLIS2 ZIC2 ZBTB8A GALNT14 lnc-CAPN14-2 piR-33103-013
GH02J031332 Enhancer 1 Ensembl ENCODE 18 -174.1 -174066 7.4 CTCF ZNF362 HLF RAD21 SP1 CEBPG SP7 ZSCAN21 ZNF384 PKNOX1 GALNT14 ENSG00000234579 piR-54311-007 piR-41306-141 XDH
GH02J031281 Enhancer 0.8 Ensembl ENCODE dbSUPER 17.5 -121.1 -121149 2.7 ZBTB40 PKNOX1 JUND JUN FOS ZNF354B MG828574 EHD3 GALNT14 DDX50P1 CAPN14 SLC30A6 YIPF4 lnc-EHD3-1
GH02J031213 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -56.7 -56713 10.8 TCF7L2 ETV6 MLLT1 ZNF687 CREM IKZF1 ZIC2 RXRA BACH1 IKZF2 GALNT14 ENSG00000234579 CAPN14 EHD3 RNA5SP90 RF00001-166
GH02J031286 Enhancer 0.8 Ensembl ENCODE dbSUPER 17.1 -125.9 -125913 3.2 POLR2A NR2F2 NFIB YY1 EHD3 GALNT14 CAPN14 ENSG00000213620 lnc-EHD3-4 piR-30831-002
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GALNT14 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GALNT14 gene promoter:
  • AREB6
  • Chx10
  • CUTL1
  • FOXO1
  • FOXO1a
  • GATA-1
  • Nkx2-5
  • NRSF form 1
  • NRSF form 2
  • ZID

Genomic Locations for GALNT14 Gene

Genomic Locations for GALNT14 Gene
chr2:30,910,465-31,161,688
(GRCh38/hg38)
Size:
251,224 bases
Orientation:
Minus strand
chr2:31,133,333-31,378,068
(GRCh37/hg19)
Size:
244,736 bases
Orientation:
Minus strand

Genomic View for GALNT14 Gene

Genes around GALNT14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GALNT14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GALNT14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GALNT14 Gene

Proteins for GALNT14 Gene

  • Protein details for GALNT14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FL9-GLT14_HUMAN
    Recommended name:
    Polypeptide N-acetylgalactosaminyltransferase 14
    Protein Accession:
    Q96FL9
    Secondary Accessions:
    • B3KV89
    • Q4ZG75
    • Q53SU1
    • Q53TJ0
    • Q8IVI4
    • Q9BRH1
    • Q9H827
    • Q9H9J8

    Protein attributes for GALNT14 Gene

    Size:
    552 amino acids
    Molecular mass:
    64321 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14795.1; Type=Miscellaneous discrepancy; Note=Chimeric at the C-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for GALNT14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GALNT14 Gene

Selected DME Specific Peptides for GALNT14 Gene

Q96FL9:
  • VVCPVID
  • VGHVFRK
  • AEVWMDEYK
  • CGGSLEI
  • FLDSHCE
  • WYLENIYP
  • MDIWGGEN
  • CQSFKWYL
  • PCSRVGH

Post-translational modifications for GALNT14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for GALNT14 Gene

Gene Families for GALNT14 Gene

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

Suggested Antigen Peptide Sequences for GALNT14 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ16272 fis, clone NT2NE2018916, highly similar to Polypeptide N-acetylgalactosaminyltransferase 14 (EC 2.4.1.41) (B3KV89_HUMAN)
  • UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14 (GLT14_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96FL9

UniProtKB/Swiss-Prot:

GLT14_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 GALNT14: view

Function for GALNT14 Gene

Molecular function for GALNT14 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. Displays activity toward mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in kidney.
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 GALNT14 Gene

Phenotypes From GWAS Catalog for GALNT14 Gene

Gene Ontology (GO) - Molecular Function for GALNT14 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 GALNT14: view
genes like me logo Genes that share phenotypes with GALNT14: view

Animal Models for GALNT14 Gene

MGI Knock Outs for GALNT14:

Animal Model Products

  • Taconic Biosciences Mouse Models for GALNT14

CRISPR Products

miRNA for GALNT14 Gene

miRTarBase miRNAs that target GALNT14

Clone Products

Cell Line Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GALNT14 Gene

Localization for GALNT14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GALNT14 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 GALNT14 gene
Compartment Confidence
golgi apparatus 4
plasma membrane 2
extracellular 0
endoplasmic reticulum 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for GALNT14 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 GALNT14: view

Pathways & Interactions for GALNT14 Gene

genes like me logo Genes that share pathways with GALNT14: view

Pathways by source for GALNT14 Gene

UniProtKB/Swiss-Prot Q96FL9-GLT14_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for GALNT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0016266 O-glycan processing TAS --
genes like me logo Genes that share ontologies with GALNT14: view

No data available for SIGNOR curated interactions for GALNT14 Gene

Drugs & Compounds for GALNT14 Gene

(6) Drugs for GALNT14 Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3240
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 2212
Mitoxantrone Approved, Investigational Pharma 294
Calcium Approved Nutra 7773
Manganese Approved Nutra 48

(3) Additional Compounds for GALNT14 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 GALNT14: view

Transcripts for GALNT14 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GALNT14 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21a ·
SP1: - - -
SP2: - - - - - - -
SP3: - - - - - - - -
SP4:
SP5: - - - -
SP6: -
SP7: - - - - - - - -
SP8:

ExUns: 21b · 21c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for GALNT14 Gene

GeneLoc Exon Structure for
GALNT14
ECgene alternative splicing isoforms for
GALNT14

Expression for GALNT14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GALNT14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GALNT14 Gene

This gene is overexpressed in Whole Blood (x10.2), Kidney - Cortex (x9.6), and Esophagus - Mucosa (x5.1).

Protein differential expression in normal tissues from HIPED for GALNT14 Gene

This gene is overexpressed in Skin (60.3) and Peripheral blood mononuclear cells (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GALNT14 Gene



Protein tissue co-expression partners for GALNT14 Gene

NURSA nuclear receptor signaling pathways regulating expression of GALNT14 Gene:

GALNT14

SOURCE GeneReport for Unigene cluster for GALNT14 Gene:

Hs.468058

mRNA Expression by UniProt/SwissProt for GALNT14 Gene:

Q96FL9-GLT14_HUMAN
Tissue specificity: Detected in renal tubules (at protein level). Highly expressed in fetal and adult kidney. Widely expressed at low level. Weakly expressed in whole brain, cerebellum, thymus, lung, mammary gland, liver, stomach, small intestine, colon, pancreas, spleen, bladder, uterus, placenta, testis, ovary, skeletal muscle, leukocyte, B-cell, bone marrow, fetal brain, fetal thymus, fetal lung, fetal liver, fetal small intestine, fetal spleen, fetal skeletal and fetus. Detected in renal tubules (at protein level).

Evidence on tissue expression from TISSUES for GALNT14 Gene

  • Nervous system(4.7)
  • Eye(4.2)
  • Stomach(4.1)
  • Kidney(3.7)
genes like me logo Genes that share expression patterns with GALNT14: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for GALNT14 Gene

Orthologs for GALNT14 Gene

This gene was present in the common ancestor of animals.

Orthologs for GALNT14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GALNT14 32
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia GALNT14 33 32
  • 89.73 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GALNT14 33 32
  • 89.01 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Galnt14 32
  • 87.86 (n)
mouse
(Mus musculus)
Mammalia Galnt14 17 33 32
  • 86.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GALNT14 33
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GALNT14 33
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves GALNT14 33 32
  • 72.89 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GALNT14 33
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia galnt14 32
  • 69.59 (n)
zebrafish
(Danio rerio)
Actinopterygii galnt14 33 32
  • 63.75 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta pgant2 33
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gly-4 33
  • 38 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10774 33
  • 45 (a)
OneToMany
Species where no ortholog for GALNT14 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 GALNT14 Gene

ENSEMBL:
Gene Tree for GALNT14 (if available)
TreeFam:
Gene Tree for GALNT14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GALNT14: view image

Paralogs for GALNT14 Gene

(23) SIMAP similar genes for GALNT14 Gene using alignment to 5 proteins:

  • GLT14_HUMAN
  • F5H263_HUMAN
  • H7C168_HUMAN
  • H7C1E3_HUMAN
  • J3KQQ5_HUMAN
genes like me logo Genes that share paralogs with GALNT14: view

Variants for GALNT14 Gene

Sequence variations from dbSNP and Humsavar for GALNT14 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs201118996 likely-pathogenic, Non-immune hydrops fetalis 30,924,226(-) G/A coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained
rs1000000004 -- 31,032,286(-) T/C intron_variant
rs1000001129 -- 31,012,765(-) A/G intron_variant
rs1000013900 -- 31,067,320(-) C/A intron_variant
rs1000014359 -- 30,948,915(-) C/A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GALNT14 Gene

Variant ID Type Subtype PubMed ID
dgv1880n106 CNV deletion 24896259
dgv690e199 CNV deletion 23128226
esv1683223 CNV deletion 17803354
esv22531 CNV loss 19812545
esv2674441 CNV deletion 23128226
esv2719868 CNV deletion 23290073
esv2719869 CNV deletion 23290073
esv2719870 CNV deletion 23290073
esv2719871 CNV deletion 23290073
esv2845014 CNV deletion 24192839
esv3554489 CNV deletion 23714750
esv3567 CNV loss 18987735
esv3590211 CNV loss 21293372
esv3590212 CNV loss 21293372
esv3590213 CNV loss 21293372
esv3590215 CNV loss 21293372
nsv1071985 CNV deletion 25765185
nsv1127717 CNV deletion 24896259
nsv833659 CNV gain 17160897
nsv955061 CNV deletion 24416366

Variation tolerance for GALNT14 Gene

Residual Variation Intolerance Score: 65.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.65; 86.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GALNT14 Gene

Human Gene Mutation Database (HGMD)
GALNT14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GALNT14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GALNT14 Gene

Disorders for GALNT14 Gene

MalaCards: The human disease database

(1) MalaCards diseases for GALNT14 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
corneal ectasia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for GALNT14

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GALNT14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GALNT14 Gene

Publications for GALNT14 Gene

  1. Cloning and characterization of a novel UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, pp-GalNAc-T14. (PMID: 12507512) Wang H … Narimatsu H (Biochemical and biophysical research communications 2003) 2 3 4 56
  2. Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure. (PMID: 22174851) Lingappa JR … Partners in Prevention HSV/HIV Transmission Study Team (PloS one 2011) 3 43 56
  3. Development of immunohistochemistry assays to assess GALNT14 and FUT3/6 in clinical trials of dulanermin and drozitumab. (PMID: 20179215) Stern HM … Ashkenazi A (Clinical cancer research : an official journal of the American Association for Cancer Research 2010) 3 4 56
  4. N-Acetylgalactosaminyltransferase-14 as a potential biomarker for breast cancer by immunohistochemistry. (PMID: 20356418) Wu C … Zhu M (BMC cancer 2010) 3 23 56
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56

Products for GALNT14 Gene

Sources for GALNT14 Gene