GALNT14 (polypeptide N-acetylgalactosaminyltransferase 14)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79623
Gene name Gene Name - the full gene name approved by the HGNC.
Polypeptide N-acetylgalactosaminyltransferase 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GALNT14
Synonyms (NCBI Gene) Gene synonyms aliases
GALNT15, GalNac-T10, GalNac-T14
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p23.1
Summary Summary of gene provided in NCBI Entrez 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 threonine
SNPs SNP information provided by dbSNP.
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.
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 assay, qRT-PCR, Western blot 27133078
MIRT731368 hsa-miR-125a-5p Luciferase reporter assay, qRT-PCR, Western blot 27133078
MIRT731368 hsa-miR-125a-5p Luciferase reporter assay, qRT-PCR, Western blot 27133078
MIRT731368 hsa-miR-125a-5p Luciferase reporter assay, qRT-PCR, Western blot 27133078
MIRT1010950 hsa-miR-1238 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0004653 Function Polypeptide N-acetylgalactosaminyltransferase activity IEA
GO:0005794 Component Golgi apparatus IBA 21873635
GO:0016021 Component Integral component of membrane IEA
GO:0016266 Process O-glycan processing TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608225 22946 ENSG00000158089
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)		 22843504
Hydrops fetalis Hydrops Fetalis, Non-Immune rs28935477, rs1131691986 26036949
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Narcolepsy Narcolepsy rs104894574, rs387906655 19629137
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Diabetes Diabetes GWAS
Show/Hide Text Mining Associations (19)
Associations from Text Mining
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