Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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

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
MIRT1010951	hsa-miR-125b	CLIP-seq
MIRT1010952	hsa-miR-136	CLIP-seq
MIRT1010953	hsa-miR-3119	CLIP-seq
MIRT1010954	hsa-miR-3120-5p	CLIP-seq
MIRT1010955	hsa-miR-3606	CLIP-seq
MIRT1010956	hsa-miR-3674	CLIP-seq
MIRT1010957	hsa-miR-3909	CLIP-seq
MIRT1010958	hsa-miR-3925-3p	CLIP-seq
MIRT1010959	hsa-miR-3978	CLIP-seq
MIRT1010960	hsa-miR-4261	CLIP-seq
MIRT1010961	hsa-miR-4319	CLIP-seq
MIRT1010962	hsa-miR-4324	CLIP-seq
MIRT1010963	hsa-miR-4329	CLIP-seq
MIRT1010964	hsa-miR-4464	CLIP-seq
MIRT1010965	hsa-miR-4496	CLIP-seq
MIRT1010966	hsa-miR-4652-3p	CLIP-seq
MIRT1010967	hsa-miR-4732-3p	CLIP-seq
MIRT1010968	hsa-miR-4748	CLIP-seq
MIRT1010969	hsa-miR-4753-3p	CLIP-seq
MIRT1010970	hsa-miR-670	CLIP-seq
MIRT1010971	hsa-miR-766	CLIP-seq
MIRT2233068	hsa-miR-1343	CLIP-seq
MIRT2233069	hsa-miR-3194-3p	CLIP-seq
MIRT2233070	hsa-miR-4283	CLIP-seq
MIRT2233071	hsa-miR-637	CLIP-seq
MIRT2233072	hsa-miR-760	CLIP-seq

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GO ID	Ontology	Definition	Evidence
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
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IBA
GO:0006493	Process	Protein O-linked glycosylation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
608225	22946	ENSG00000158089

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

	KEGG		Reactome
	Mucin type O-glycan biosynthesis Other types of O-glycan biosynthesis Metabolic pathways		O-linked glycosylation of mucins

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Non-immune hydrops fetalis	Pathogenic	rs201118996	RCV000170583	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MALROTATION OF INTESTINE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALNT14-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYDROPS FETALIS, NON-IMMUNE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (38)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26544896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GWASDB_DG	22843504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24962947, 27982029, 28347399, 29227978, 29428518, 29702465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20356418, 28347399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	37478211, 38277517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27124048, 36376274, 36938726, 38151984	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	20356418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	27982029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23708057, 27133078, 29039611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27124048, 30310511		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27124048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	30632303		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	23708057, 29039611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	28418863	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	36938726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31713889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31713889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	38151984	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	CLINVAR_DG	26036949		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	36140740	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	31362688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21635146, 23959947, 26871639, 27124048, 28695683, 31611591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24962947, 27982029, 28347399, 29227978, 29428518, 29702465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	26871639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23708057, 27133078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17767167, 26544896		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17767167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17767167, 26309160, 27124048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	26309160		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26309160	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26544896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	23133572		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23708057, 27133078		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34643088	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17767167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28418863		★★★★★ ★☆☆☆☆ Found in Text Mining only

GALNT14 (polypeptide N-acetylgalactosaminyltransferase 14)