GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3)

Gene

• Entrez ID: 2591
• Gene name: Polypeptide N-acetylgalactosaminyltransferase 3
• Gene symbol: GALNT3
• Synonyms: 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:0004653	Function	Polypeptide N-acetylgalactosaminyltransferase activity	IDA	9295285
GO:0004653	Function	Polypeptide N-acetylgalactosaminyltransferase activity	TAS
GO:0005509	Function	Calcium ion binding	IDA	9295285
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IDA	12506059
GO:0005975	Process	Carbohydrate metabolic process	NAS	9592121
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	TAS
GO:0016020	Component	Membrane	TAS	8663203
GO:0016021	Component	Integral component of membrane	IEA
GO:0016266	Process	O-glycan processing	TAS
GO:0018215	Process	Protein phosphopantetheinylation	IEA
GO:0018242	Process	Protein O-linked glycosylation via serine	IDA	9295285
GO:0018243	Process	Protein O-linked glycosylation via threonine	IDA	9295285, 16638743
GO:0030145	Function	Manganese ion binding	IDA	9295285
GO:0030246	Function	Carbohydrate binding	IEA
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12506059
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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Hyperphosphatemic tumoral calcinosis	Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome	rs863224872
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881
Tumoral calcinosis	Tumoral calcinosis, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1	rs104894343, rs104894344, rs745655924, rs137853086, rs375879489, rs761396172, rs137853087, rs137853091, rs137853088, rs137853089, rs137853090, rs766750282, rs760830864, rs786205250, rs267606841, rs1555096583, rs1220533001, rs762936774, rs775341386	17710231, 21347749, 15133511, 15133511, 21347749, 15687324, 27604308

Unknown
Disease name	Disease term	dbSNP ID	References
Angioid streaks	Angioid Streaks
Dental enamel hypoplasia	Dental Enamel Hypoplasia
Dental pulp stone	Dental Pulp Stone
Hyperostosis	Hyperostosis
Hyperphosphatemia	Hyperphosphatemia (disorder)		17710231
Nephrocalcinosis	Nephrocalcinosis
Prostatic neoplasms	Prostatic Neoplasms		17013881
Taurodontism	Taurodontism