GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3)

Gene

• Entrez ID: 2591
• Gene name: Polypeptide N-acetylgalactosaminyltransferase 3
• Gene symbol: GALNT3
• Synonyms (NCBI Gene): GalNAc-T3, HFTC, HFTC1, HHS
• Chromosome: 2
• Chromosome location: 2q24.3
• Summary: This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Indi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853086	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137853087	G>A	Pathogenic	Stop gained, downstream transcript variant, coding sequence variant, genic downstream transcript variant
rs137853088	A>C	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137853089	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137853090	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs137853091	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs267606841	A>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs375879489	C>G,T	Pathogenic	Intron variant
rs745655924	C>T	Pathogenic	Splice donor variant
rs760830864	C>A,T	Pathogenic	Splice donor variant
rs761396172	T>A,C	Pathogenic	Splice acceptor variant
rs762936774	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs766750282	->G	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs775341386	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs786205250	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019609	hsa-miR-340-5p	Sequencing	20371350
MIRT022631	hsa-miR-124-3p	Microarray	18668037
MIRT031681	hsa-miR-16-5p	Proteomics	18668040
MIRT537258	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT537246	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT537272	hsa-miR-5692a	PAR-CLIP	22012620
MIRT537271	hsa-miR-1244	PAR-CLIP	22012620
MIRT537270	hsa-miR-512-3p	PAR-CLIP	22012620
MIRT537269	hsa-miR-3137	PAR-CLIP	22012620
MIRT537268	hsa-miR-20b-3p	PAR-CLIP	22012620
MIRT537267	hsa-miR-187-5p	PAR-CLIP	22012620
MIRT537266	hsa-miR-548v	PAR-CLIP	22012620
MIRT537265	hsa-miR-221-3p	PAR-CLIP	22012620
MIRT537264	hsa-miR-222-3p	PAR-CLIP	22012620
MIRT537263	hsa-miR-4473	PAR-CLIP	22012620
MIRT537261	hsa-miR-3686	PAR-CLIP	22012620
MIRT537262	hsa-miR-4325	PAR-CLIP	22012620
MIRT537260	hsa-miR-4743-3p	PAR-CLIP	22012620
MIRT537259	hsa-miR-4652-3p	PAR-CLIP	22012620
MIRT537258	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT537246	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT537257	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT537256	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT537255	hsa-miR-302e	PAR-CLIP	22012620
MIRT537254	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT537253	hsa-miR-520b	PAR-CLIP	22012620
MIRT537252	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT537251	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT537250	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT537249	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT537248	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT537247	hsa-miR-520e	PAR-CLIP	22012620
MIRT537246	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT537245	hsa-miR-7-5p	PAR-CLIP	22012620
MIRT537244	hsa-miR-8087	PAR-CLIP	22012620
MIRT537243	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT537242	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT537241	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT537240	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT537239	hsa-miR-6513-3p	PAR-CLIP	22012620
MIRT537238	hsa-miR-504-3p	PAR-CLIP	22012620
MIRT537237	hsa-miR-122-5p	PAR-CLIP	22012620
MIRT537236	hsa-miR-496	PAR-CLIP	22012620
MIRT537235	hsa-miR-223-5p	PAR-CLIP	22012620
MIRT537234	hsa-miR-1297	PAR-CLIP	22012620
MIRT537233	hsa-miR-26a-5p	PAR-CLIP	22012620
MIRT537232	hsa-miR-26b-5p	PAR-CLIP	22012620
MIRT537231	hsa-miR-4465	PAR-CLIP	22012620
MIRT537230	hsa-miR-3977	PAR-CLIP	22012620
MIRT537258	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT537246	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT537272	hsa-miR-5692a	PAR-CLIP	22012620
MIRT537271	hsa-miR-1244	PAR-CLIP	22012620
MIRT537270	hsa-miR-512-3p	PAR-CLIP	22012620
MIRT537269	hsa-miR-3137	PAR-CLIP	22012620
MIRT537268	hsa-miR-20b-3p	PAR-CLIP	22012620
MIRT537267	hsa-miR-187-5p	PAR-CLIP	22012620
MIRT537266	hsa-miR-548v	PAR-CLIP	22012620
MIRT537265	hsa-miR-221-3p	PAR-CLIP	22012620
MIRT537264	hsa-miR-222-3p	PAR-CLIP	22012620
MIRT537263	hsa-miR-4473	PAR-CLIP	22012620
MIRT537261	hsa-miR-3686	PAR-CLIP	22012620
MIRT537262	hsa-miR-4325	PAR-CLIP	22012620
MIRT537260	hsa-miR-4743-3p	PAR-CLIP	22012620
MIRT537259	hsa-miR-4652-3p	PAR-CLIP	22012620
MIRT537258	hsa-miR-520f-3p	PAR-CLIP	22012620
MIRT537246	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT537257	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT537256	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT537255	hsa-miR-302e	PAR-CLIP	22012620
MIRT537254	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT537253	hsa-miR-520b	PAR-CLIP	22012620
MIRT537252	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT537251	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT537250	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT537249	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT537248	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT537247	hsa-miR-520e	PAR-CLIP	22012620
MIRT537246	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT537245	hsa-miR-7-5p	PAR-CLIP	22012620
MIRT537244	hsa-miR-8087	PAR-CLIP	22012620
MIRT537243	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT537242	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT537241	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT537240	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT537239	hsa-miR-6513-3p	PAR-CLIP	22012620
MIRT537238	hsa-miR-504-3p	PAR-CLIP	22012620
MIRT537237	hsa-miR-122-5p	PAR-CLIP	22012620
MIRT537236	hsa-miR-496	PAR-CLIP	22012620
MIRT537235	hsa-miR-223-5p	PAR-CLIP	22012620
MIRT537234	hsa-miR-1297	PAR-CLIP	22012620
MIRT537233	hsa-miR-26a-5p	PAR-CLIP	22012620
MIRT537232	hsa-miR-26b-5p	PAR-CLIP	22012620
MIRT537231	hsa-miR-4465	PAR-CLIP	22012620
MIRT537230	hsa-miR-3977	PAR-CLIP	22012620
MIRT1011107	hsa-miR-1183	CLIP-seq
MIRT1011108	hsa-miR-122	CLIP-seq
MIRT1011109	hsa-miR-1236	CLIP-seq
MIRT1011110	hsa-miR-1257	CLIP-seq
MIRT1011111	hsa-miR-128	CLIP-seq
MIRT1011112	hsa-miR-139-5p	CLIP-seq
MIRT1011113	hsa-miR-181a	CLIP-seq
MIRT1011114	hsa-miR-181b	CLIP-seq
MIRT1011115	hsa-miR-181c	CLIP-seq
MIRT1011116	hsa-miR-181d	CLIP-seq
MIRT1011117	hsa-miR-186	CLIP-seq
MIRT1011118	hsa-miR-188-5p	CLIP-seq
MIRT1011119	hsa-miR-203	CLIP-seq
MIRT1011120	hsa-miR-218	CLIP-seq
MIRT1011121	hsa-miR-26a	CLIP-seq
MIRT1011122	hsa-miR-26b	CLIP-seq
MIRT1011123	hsa-miR-27a	CLIP-seq
MIRT1011124	hsa-miR-27b	CLIP-seq
MIRT1011125	hsa-miR-302a	CLIP-seq
MIRT1011126	hsa-miR-302b	CLIP-seq
MIRT1011127	hsa-miR-302c	CLIP-seq
MIRT1011128	hsa-miR-302d	CLIP-seq
MIRT1011129	hsa-miR-30a	CLIP-seq
MIRT1011130	hsa-miR-30b	CLIP-seq
MIRT1011131	hsa-miR-30c	CLIP-seq
MIRT1011132	hsa-miR-30d	CLIP-seq
MIRT1011133	hsa-miR-30e	CLIP-seq
MIRT1011134	hsa-miR-3119	CLIP-seq
MIRT1011135	hsa-miR-3135	CLIP-seq
MIRT1011136	hsa-miR-3148	CLIP-seq
MIRT1011137	hsa-miR-3177-5p	CLIP-seq
MIRT1011138	hsa-miR-3606	CLIP-seq
MIRT1011139	hsa-miR-3607-3p	CLIP-seq
MIRT1011140	hsa-miR-3613-3p	CLIP-seq
MIRT1011141	hsa-miR-3622a-3p	CLIP-seq
MIRT1011142	hsa-miR-3622b-3p	CLIP-seq
MIRT1011143	hsa-miR-3646	CLIP-seq
MIRT1011144	hsa-miR-3647-3p	CLIP-seq
MIRT1011145	hsa-miR-3653	CLIP-seq
MIRT1011146	hsa-miR-3658	CLIP-seq
MIRT1011147	hsa-miR-3659	CLIP-seq
MIRT1011148	hsa-miR-372	CLIP-seq
MIRT1011149	hsa-miR-373	CLIP-seq
MIRT1011150	hsa-miR-374a	CLIP-seq
MIRT1011151	hsa-miR-374b	CLIP-seq
MIRT1011152	hsa-miR-378	CLIP-seq
MIRT1011153	hsa-miR-378b	CLIP-seq
MIRT1011154	hsa-miR-378c	CLIP-seq
MIRT1011155	hsa-miR-378d	CLIP-seq
MIRT1011156	hsa-miR-378e	CLIP-seq
MIRT1011157	hsa-miR-378f	CLIP-seq
MIRT1011158	hsa-miR-378h	CLIP-seq
MIRT1011159	hsa-miR-378i	CLIP-seq
MIRT1011160	hsa-miR-3923	CLIP-seq
MIRT1011161	hsa-miR-3978	CLIP-seq
MIRT1011162	hsa-miR-422a	CLIP-seq
MIRT1011163	hsa-miR-4262	CLIP-seq
MIRT1011164	hsa-miR-4282	CLIP-seq
MIRT1011165	hsa-miR-4307	CLIP-seq
MIRT1011166	hsa-miR-4328	CLIP-seq
MIRT1011167	hsa-miR-4477b	CLIP-seq
MIRT1011168	hsa-miR-4480	CLIP-seq
MIRT1011169	hsa-miR-4633-5p	CLIP-seq
MIRT1011170	hsa-miR-4638-3p	CLIP-seq
MIRT1011171	hsa-miR-4658	CLIP-seq
MIRT1011172	hsa-miR-4668-3p	CLIP-seq
MIRT1011173	hsa-miR-4712-3p	CLIP-seq
MIRT1011174	hsa-miR-4719	CLIP-seq
MIRT1011175	hsa-miR-4729	CLIP-seq
MIRT1011176	hsa-miR-4776-3p	CLIP-seq
MIRT1011177	hsa-miR-487a	CLIP-seq
MIRT1011178	hsa-miR-495	CLIP-seq
MIRT1011179	hsa-miR-499-3p	CLIP-seq
MIRT1011180	hsa-miR-499a-3p	CLIP-seq
MIRT1011181	hsa-miR-519a	CLIP-seq
MIRT1011182	hsa-miR-520d-5p	CLIP-seq
MIRT1011183	hsa-miR-520f	CLIP-seq
MIRT1011184	hsa-miR-524-5p	CLIP-seq
MIRT1011185	hsa-miR-532-5p	CLIP-seq
MIRT1011186	hsa-miR-539	CLIP-seq
MIRT1011187	hsa-miR-543	CLIP-seq
MIRT1011188	hsa-miR-548c-3p	CLIP-seq
MIRT1011189	hsa-miR-574-5p	CLIP-seq
MIRT1011190	hsa-miR-595	CLIP-seq
MIRT1011191	hsa-miR-636	CLIP-seq
MIRT1011192	hsa-miR-7	CLIP-seq
MIRT1011193	hsa-miR-802	CLIP-seq
MIRT1011194	hsa-miR-885-5p	CLIP-seq
MIRT1011195	hsa-miR-889	CLIP-seq
MIRT1011196	hsa-miR-890	CLIP-seq
MIRT1011197	hsa-miR-9	CLIP-seq
MIRT1011198	hsa-miR-921	CLIP-seq
MIRT1011199	hsa-miR-944	CLIP-seq
MIRT1549155	hsa-miR-1305	CLIP-seq
MIRT1011167	hsa-miR-4477b	CLIP-seq
MIRT1549156	hsa-miR-4775	CLIP-seq
MIRT1549157	hsa-miR-590-3p	CLIP-seq
MIRT1999461	hsa-miR-1185	CLIP-seq
MIRT1999462	hsa-miR-1224-5p	CLIP-seq
MIRT1999463	hsa-miR-1290	CLIP-seq
MIRT1999464	hsa-miR-3605-5p	CLIP-seq
MIRT1011139	hsa-miR-3607-3p	CLIP-seq
MIRT1999465	hsa-miR-3679-5p	CLIP-seq
MIRT1999466	hsa-miR-3915	CLIP-seq
MIRT1011166	hsa-miR-4328	CLIP-seq
MIRT1011167	hsa-miR-4477b	CLIP-seq
MIRT1999467	hsa-miR-4689	CLIP-seq
MIRT1999468	hsa-miR-514	CLIP-seq
MIRT1999469	hsa-miR-514b-3p	CLIP-seq
MIRT1011188	hsa-miR-548c-3p	CLIP-seq
MIRT2233088	hsa-miR-106a	CLIP-seq
MIRT2233089	hsa-miR-106b	CLIP-seq
MIRT1011107	hsa-miR-1183	CLIP-seq
MIRT1011108	hsa-miR-122	CLIP-seq
MIRT1011109	hsa-miR-1236	CLIP-seq
MIRT2233090	hsa-miR-17	CLIP-seq
MIRT1011113	hsa-miR-181a	CLIP-seq
MIRT1011114	hsa-miR-181b	CLIP-seq
MIRT1011115	hsa-miR-181c	CLIP-seq
MIRT1011116	hsa-miR-181d	CLIP-seq
MIRT1011119	hsa-miR-203	CLIP-seq
MIRT2233091	hsa-miR-20a	CLIP-seq
MIRT2233092	hsa-miR-20b	CLIP-seq
MIRT1011121	hsa-miR-26a	CLIP-seq
MIRT1011122	hsa-miR-26b	CLIP-seq
MIRT2233093	hsa-miR-298	CLIP-seq
MIRT1011125	hsa-miR-302a	CLIP-seq
MIRT1011126	hsa-miR-302b	CLIP-seq
MIRT1011127	hsa-miR-302c	CLIP-seq
MIRT1011128	hsa-miR-302d	CLIP-seq
MIRT1011129	hsa-miR-30a	CLIP-seq
MIRT1011130	hsa-miR-30b	CLIP-seq
MIRT1011131	hsa-miR-30c	CLIP-seq
MIRT1011132	hsa-miR-30d	CLIP-seq
MIRT1011133	hsa-miR-30e	CLIP-seq
MIRT2233094	hsa-miR-3122	CLIP-seq
MIRT1011136	hsa-miR-3148	CLIP-seq
MIRT2233095	hsa-miR-3153	CLIP-seq
MIRT2233096	hsa-miR-337-3p	CLIP-seq
MIRT1011139	hsa-miR-3607-3p	CLIP-seq
MIRT1011140	hsa-miR-3613-3p	CLIP-seq
MIRT1011143	hsa-miR-3646	CLIP-seq
MIRT1011144	hsa-miR-3647-3p	CLIP-seq
MIRT2233097	hsa-miR-3668	CLIP-seq
MIRT2233098	hsa-miR-3678-3p	CLIP-seq
MIRT1011148	hsa-miR-372	CLIP-seq
MIRT1011149	hsa-miR-373	CLIP-seq
MIRT1011150	hsa-miR-374a	CLIP-seq
MIRT1011151	hsa-miR-374b	CLIP-seq
MIRT1011152	hsa-miR-378	CLIP-seq
MIRT1011153	hsa-miR-378b	CLIP-seq
MIRT1011154	hsa-miR-378c	CLIP-seq
MIRT1011155	hsa-miR-378d	CLIP-seq
MIRT1011156	hsa-miR-378e	CLIP-seq
MIRT1011157	hsa-miR-378f	CLIP-seq
MIRT1011158	hsa-miR-378h	CLIP-seq
MIRT1011159	hsa-miR-378i	CLIP-seq
MIRT2233099	hsa-miR-3913-5p	CLIP-seq
MIRT2233100	hsa-miR-3924	CLIP-seq
MIRT1011161	hsa-miR-3978	CLIP-seq
MIRT1011162	hsa-miR-422a	CLIP-seq
MIRT1011163	hsa-miR-4262	CLIP-seq
MIRT1011164	hsa-miR-4282	CLIP-seq
MIRT1011167	hsa-miR-4477b	CLIP-seq
MIRT1011170	hsa-miR-4638-3p	CLIP-seq
MIRT2233101	hsa-miR-4659a-3p	CLIP-seq
MIRT2233102	hsa-miR-4659b-3p	CLIP-seq
MIRT2233103	hsa-miR-4668-5p	CLIP-seq
MIRT2233104	hsa-miR-4703-3p	CLIP-seq
MIRT1011174	hsa-miR-4719	CLIP-seq
MIRT2233105	hsa-miR-4762-5p	CLIP-seq
MIRT2233106	hsa-miR-4778-5p	CLIP-seq
MIRT1011177	hsa-miR-487a	CLIP-seq
MIRT1011178	hsa-miR-495	CLIP-seq
MIRT1011179	hsa-miR-499-3p	CLIP-seq
MIRT1011180	hsa-miR-499a-3p	CLIP-seq
MIRT1011181	hsa-miR-519a	CLIP-seq
MIRT2233107	hsa-miR-519d	CLIP-seq
MIRT1011183	hsa-miR-520f	CLIP-seq
MIRT1011187	hsa-miR-543	CLIP-seq
MIRT2233108	hsa-miR-544	CLIP-seq
MIRT2233109	hsa-miR-548n	CLIP-seq
MIRT2233110	hsa-miR-548t	CLIP-seq
MIRT2233111	hsa-miR-570	CLIP-seq
MIRT2233112	hsa-miR-630	CLIP-seq
MIRT1011192	hsa-miR-7	CLIP-seq
MIRT1011193	hsa-miR-802	CLIP-seq
MIRT1011195	hsa-miR-889	CLIP-seq
MIRT1011196	hsa-miR-890	CLIP-seq
MIRT2233113	hsa-miR-93	CLIP-seq
MIRT1011199	hsa-miR-944	CLIP-seq
MIRT1011140	hsa-miR-3613-3p	CLIP-seq
MIRT2388363	hsa-miR-548ae	CLIP-seq
MIRT2388364	hsa-miR-548aj	CLIP-seq
MIRT2388365	hsa-miR-548am	CLIP-seq
MIRT2388366	hsa-miR-548x	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NRF1	Unknown	10626815
TFAP2A	Unknown	10626815

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001958	Process	Endochondral ossification	IEA
GO:0002063	Process	Chondrocyte development	IEA
GO:0004653	Function	Polypeptide N-acetylgalactosaminyltransferase activity	IBA
GO:0004653	Function	Polypeptide N-acetylgalactosaminyltransferase activity	IDA	8663203, 9295285, 31932717
GO:0004653	Function	Polypeptide N-acetylgalactosaminyltransferase activity	IEA
GO:0004653	Function	Polypeptide N-acetylgalactosaminyltransferase activity	IGI	17129170
GO:0004653	Function	Polypeptide N-acetylgalactosaminyltransferase activity	IMP	17129170
GO:0004653	Function	Polypeptide N-acetylgalactosaminyltransferase activity	TAS	9592121
GO:0005509	Function	Calcium ion binding	IDA	9295285
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	12506059
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005975	Process	Carbohydrate metabolic process	NAS	9592121
GO:0005976	Process	Polysaccharide metabolic process	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IBA
GO:0006493	Process	Protein O-linked glycosylation	IDA	8663203
GO:0006493	Process	Protein O-linked glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IMP	17129170
GO:0006915	Process	Apoptotic process	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	TAS
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8663203
GO:0016266	Process	Protein O-linked glycosylation via N-acetyl-galactosamine	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:0030145	Function	Manganese ion binding	IDA	9295285
GO:0030246	Function	Carbohydrate binding	IEA
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12506059
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IEA
GO:0060173	Process	Limb development	IEA
GO:0070062	Component	Extracellular exosome	HDA	18570454

Other IDs

• MIM: 601756
• HGNC: 4125
• e!Ensembl: ENSG00000115339

Protein

• UniProt ID: Q14435
• Protein name: Polypeptide N-acetylgalactosaminyltransferase 3 (EC 2.4.1.41) (Polypeptide GalNAc transferase 3) (GalNAc-T3) (pp-GaNTase 3) (Protein-UDP acetylgalactosaminyltransferase 3) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3)
• 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 (PubMed:16638743, PubMed:31932717, PubMed:8663203, PubMed:92952
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00535	Glycos_transf_2	188 → 374	Glycosyl transferase family 2	Family
  PF00652	Ricin_B_lectin	505 → 627	Ricin-type beta-trefoil lectin domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in organs that contain secretory epithelial glands. Highly expressed in pancreas, skin, kidney and testis. Weakly expressed in prostate, ovary, intestine and colon. Also expressed in placenta and lung and fetal lung and fetal
• Sequence:

  MAHLKRLVKLHIKRHYHKKFWKLGAVIFFFIIVLVLMQREVSVQYSKEESRMERNMKNKN
  KMLDLMLEAVNNIKDAMPKMQIGAPVRQNIDAGERPCLQGYYTAAELKPVLDRPPQDSNA
  PGASGKAFKTTNLSVEEQKEKERGEAKHCFNAFASDRISLHRDLGPDTRPPECIEQKFKR
  CPPLPTTSVIIVFHNEAWSTLLRTVHSVLYSSPAILLKEIILVDDASVDEYLHDKLDEYV
  KQFSIVKIVRQRERKGLITARLLGATVATAETLTFLDAHCECFYGWLEPLLARIAENYTA
  VVSPDIASIDLNTFEFNKPSPYGSNHNRGNFDWSLSFGWESLPDHEKQRRKDETYPIKTP
  TFAGGLFSISKEYFEYIGSYDEEMEIWGGENIEMSFRVWQCGGQLEIMPCSVVGHVFRSK
  SPHSFPKGTQVIARNQVRLAEVWMDEYKEIFYRRNTDAAKIVKQKAFGDLSKRFEIKHRL
  QCKNFTWYLNNIYPEVYVPDLNPVISGYIKSVGQPLCLDVGENNQGGKPLIMYTCHGLGG
  NQYFEYSAQHEIRHNIQKELCLHAAQGLVQLKACTYKGHKTVVTGEQIWEIQKDQLLYNP
  FLKMCLSANGEHPSLVSCNPSDPLQKWILSQND

• Sequence length: 633

Pathways

KEGG:

Mucin type O-glycan biosynthesis
Other types of O-glycan biosynthesis
Metabolic pathways

Reactome:

FGFR3c ligand binding and activation
Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
O-linked glycosylation of mucins

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Familial cancer of breast	Pathogenic	rs2105398736	RCV005928608	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs761396172	RCV005932806	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tumoral calcinosis, hyperphosphatemic, familial, 1	Likely pathogenic; Pathogenic	rs1204063782, rs764730691, rs571016917, rs774681591, rs745655924, rs137853086, rs375879489, rs761396172, rs137853087, rs137853091, rs137853088, rs137853089, rs137853090, rs766750282, rs760830864, rs786205250, rs267606841, rs1169338996, rs776322512, rs1558992611, rs1188058763, rs891991167, rs780440401, rs2467889965, rs762936774, rs775341386	RCV002479421 RCV002272527 RCV003236597 RCV005021664 RCV000008234 RCV000008235 RCV000008236 RCV000008237 RCV000008238 RCV000008239 RCV000008240 RCV000008241 RCV000008242 RCV000008243 RCV000008244 RCV000008245 RCV000008246 RCV003404776 RCV005871206 RCV005014768 RCV005030142 RCV005014829 RCV005030183 RCV006449167 RCV005030323 RCV002272298 RCV000679991	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCIUM PYROPHOSPHATE DEPOSITION DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome	Uncertain significance	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GALNT3-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCALCEMIC TUMORAL CALCINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	LHGDN	14555840, 14735190		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	9354435		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	14735190		★☆☆☆☆ Found in Text Mining only
Angioid Streaks	Angioid streaks	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27187683		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	30466404	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal recessive hypophosphatemic vitamin D refractory rickets	Hypophosphatemic Vitamin D Refractory Rickets, X-Linked	BEFREE	28005411		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	15609297		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12720548	Stimulate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	16567474, 18976705, 18982401, 19865099, 20358599, 27164190, 30015621, 40091336, 40149415	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	15041730		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	14735190		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24504219, 27095597	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27187683	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35017635	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23799843	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	12232759	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24504219, 27095597, 29039611, 31071912		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29567762		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	15599692, 17311862		★☆☆☆☆ Found in Text Mining only
Cholestasis Extrahepatic	Cholelithiasis	Pubtator	17361208	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	24452533	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	19013236		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19013236		★☆☆☆☆ Found in Text Mining only
Chronic recurrent multifocal osteomyelitis	Recurrent multifocal osteomyelitis	Pubtator	31559735	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29894293		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	11932895	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28453302		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26714046, 28453302		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28453302		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dental Pulp Stone	Dental Pulp Stone	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10679951		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10679951		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10679951		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	28382414		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	24504219, 27095597, 29039611, 31071912		★☆☆☆☆ Found in Text Mining only
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome	Hyperphosphatemic Tumoral Calcinosis	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	15041730		★☆☆☆☆ Found in Text Mining only
gallbladder neoplasm	Neoplasm of gallbladder	LHGDN	15041730		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	33428857	Associate	★☆☆☆☆ Found in Text Mining only
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	BEFREE	15599692, 17311862		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	BEFREE	18322299, 19830424, 25249269		★☆☆☆☆ Found in Text Mining only
Hyperostosis	Hyperostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	17129170, 18976705, 19013236, 19830424, 19865099, 20358599, 25899975, 28005411		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	CTD_human_DG	17710231		★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
HYPOTRICHOSIS 1	Hypotrichosis	BEFREE	15599692, 17311862		★☆☆☆☆ Found in Text Mining only
Hypotrichosis simplex	Hypotrichosis simplex	BEFREE	19751230		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	39267058	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	19013236		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	12232759		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	14735190	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	14735190	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	17361208	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21625220		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15609297		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24504219		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29516288		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	15900124, 16638743		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14735190, 16351756, 24038392, 24504219, 27187683, 29516288, 29722338, 30466404, 9354435		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	BEFREE	29402254		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	24045674, 30004557		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	30004557, 35414641	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Diseases	Ovarian diseases	Pubtator	24504219	Stimulate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	24504219		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24504219, 27095597	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21625220		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	10464263	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21587259, 30466404	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15609297		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20037200, 26856686	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23799843		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15860931		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26296622	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12708471	Associate	★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Microlithiasis	Testicular Microlithiasis	BEFREE	16567474		★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	BEFREE	15599692, 15687324, 16638743, 16940445, 17853462, 18982401, 22396161, 25899975		★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	17710231		★☆☆☆☆ Found in Text Mining only
Tumoral Calcinosis Hyperphosphatemic Familial	Tumoral calcinosis	Pubtator	16960814, 17129170, 18976705, 18982401, 19297793, 19865099, 20358599, 26337219, 27164190, 30015621, 31559735, 40661832	Associate	★☆☆☆☆ Found in Text Mining only
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL	Tumoral calcinosis	ORPHANET_DG	15133511, 21347749		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL	Tumoral calcinosis	BEFREE	15599692, 16528452, 17129170, 17311862, 17351710, 18976705, 18982401, 19297793, 21347749, 25153226, 25249269, 27164190, 30015621, 30226830		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL	Tumoral calcinosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1	Tumoral calcinosis	CLINVAR_DG	15133511, 15687324		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1	Tumoral calcinosis	GENOMICS_ENGLAND_DG	15133511, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1	Tumoral calcinosis	ORPHANET_DG	15133511, 21347749		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)