GALNT14 (polypeptide N-acetylgalactosaminyltransferase 14)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 79623
Gene name Polypeptide N-acetylgalactosaminyltransferase 14
Gene symbol GALNT14
Synonyms (NCBI Gene)
GALNT15GalNac-T10GalNac-T14
Chromosome 2
Chromosome location 2p23.1
Summary 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 threonine
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs201118996 G>A Likely-pathogenic Coding sequence variant, non coding transcript variant, intron variant, stop gained
miRNA miRNA information provided by mirtarbase database.
31
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (31)
miRTarBase ID miRNA Experiments Reference
MIRT731368 hsa-miR-125a-5p Luciferase reporter assayqRT-PCRWestern blot 27133078
MIRT731368 hsa-miR-125a-5p Luciferase reporter assayqRT-PCRWestern blot 27133078
MIRT731368 hsa-miR-125a-5p Luciferase reporter assayqRT-PCRWestern blot 27133078
MIRT731368 hsa-miR-125a-5p Luciferase reporter assayqRT-PCRWestern blot 27133078
MIRT1010950 hsa-miR-1238 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IBA
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IEA
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608225 22946 ENSG00000158089
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96FL9
Protein name Polypeptide N-acetylgalactosaminyltransferase 14 (EC 2.4.1.41) (Polypeptide GalNAc transferase 14) (GalNAc-T14) (pp-GaNTase 14) (Protein-UDP acetylgalactosaminyltransferase 14) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00535 Glycos_transf_2 114 → 292 Glycosyl transferase family 2 Family
PF00652 Ricin_B_lectin 420 → 547 Ricin-type beta-trefoil lectin domain Domain
Tissue specificity 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,
Sequence 
MRRLTRRLVLPVFGVLWITVLLFFWVTKRKLEVPTGPEVQTPKPSDADWDDLWDQFDERR
YLNAKKWRVGDDPYKLYAFNQRESERISSNRAIPDTRHLRCTLLVYCTDLPPTSIIITFH
NEARSTLLRTIRSVLNRTPTHLIREIILVDDFSNDPDDCKQLIKLPKVKCLRNNERQGLV
RSRIRGADIAQGTTLTFLDSHCEVNRDWLQPLLHRVKEDYTRVVCPVIDIINLDTFTYIE
SASELRGGFDWSLHFQWEQLSPEQKARRLDPTEPIRTPIIAGGLFVIDKAWFDYLGKYDM
DMDIWGGENFEISFRVWMCGGSLEIVPCSRVGHVFRKKHPYVFPDGNANTYIKNTKRTAE
VWMDEYKQYYYAARPFALERPFGNVESRLDLRKNLRCQSFKWYLENIYPELSIPKESSIQ
KGNIRQRQKCLESQRQNNQETPNLKLSPCAKVKGEDAKSQVWAFTYTQQILQEELCLSVI
TLFPGAPVVLVLCKNGDDRQQWTKTGSHIEHIASHLCLDTDMFGDGTENGKEIVVNPCES
SLMSQHWDMVSS
Sequence length 552
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Mucin type O-glycan biosynthesis
Other types of O-glycan biosynthesis
Metabolic pathways 		  O-linked glycosylation of mucins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Non-immune hydrops fetalis Pathogenic rs201118996 RCV000170583
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Uncertain significance rs145668909 RCV005928799
GALNT14-related disorder Uncertain significance; Likely benign rs774070861, rs139793019 RCV003959107
RCV003942208
Show/Hide Text Mining Associations (19)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Mucinous Associate 27124048
Adenocarcinoma of Lung Associate 32064933
Breast Neoplasms Associate 20356418, 28347399
Bronchopulmonary Dysplasia Associate 37478211, 38277517
Carcinoma Hepatocellular Associate 27124048, 36376274, 36938726, 38151984
Carcinoma Intraductal Noninfiltrating Associate 20356418
Colorectal Neoplasms Associate 27124048
Esophageal Squamous Cell Carcinoma Associate 28418863
Gastrointestinal Neoplasms Associate 36938726
Hepatitis B Associate 38151984