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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79695
Gene name Gene Name - the full gene name approved by the HGNC.	Polypeptide N-acetylgalactosaminyltransferase 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GALNT12
Synonyms (NCBI Gene) Gene synonyms aliases	CRCS1, GalNAc-T12
Chromosome Chromosome number	9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	9q22.33
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial st

Show/Hide all(3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606839	G>A,T	Uncertain-significance, risk-factor	Initiator codon variant, missense variant, genic upstream transcript variant, upstream transcript variant
rs267606840	C>A,T	Risk-factor	Missense variant, coding sequence variant
rs1588453974	C>G	Risk-factor	Coding sequence variant, stop gained

Show/Hide all(77)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016888	hsa-miR-335-5p	Microarray	18185580
MIRT024339	hsa-miR-215-5p	Microarray	19074876
MIRT026189	hsa-miR-192-5p	Microarray	19074876
MIRT1010808	hsa-let-7a	CLIP-seq
MIRT1010809	hsa-let-7b	CLIP-seq
MIRT1010810	hsa-let-7c	CLIP-seq
MIRT1010811	hsa-let-7d	CLIP-seq
MIRT1010812	hsa-let-7e	CLIP-seq
MIRT1010813	hsa-let-7f	CLIP-seq
MIRT1010814	hsa-let-7g	CLIP-seq
MIRT1010815	hsa-let-7i	CLIP-seq
MIRT1010816	hsa-miR-1256	CLIP-seq
MIRT1010817	hsa-miR-139-5p	CLIP-seq
MIRT1010818	hsa-miR-202	CLIP-seq
MIRT1010819	hsa-miR-21	CLIP-seq
MIRT1010820	hsa-miR-23a	CLIP-seq
MIRT1010821	hsa-miR-23b	CLIP-seq
MIRT1010822	hsa-miR-23c	CLIP-seq
MIRT1010823	hsa-miR-361-5p	CLIP-seq
MIRT1010824	hsa-miR-4458	CLIP-seq
MIRT1010825	hsa-miR-4500	CLIP-seq
MIRT1010826	hsa-miR-4678	CLIP-seq
MIRT1010827	hsa-miR-520d-5p	CLIP-seq
MIRT1010828	hsa-miR-524-5p	CLIP-seq
MIRT1010829	hsa-miR-590-5p	CLIP-seq
MIRT1010830	hsa-miR-98	CLIP-seq
MIRT1999364	hsa-miR-1264	CLIP-seq
MIRT1999365	hsa-miR-149	CLIP-seq
MIRT1010823	hsa-miR-361-5p	CLIP-seq
MIRT2233023	hsa-miR-103a	CLIP-seq
MIRT2233024	hsa-miR-107	CLIP-seq
MIRT2233025	hsa-miR-1301	CLIP-seq
MIRT2233026	hsa-miR-15a	CLIP-seq
MIRT2233027	hsa-miR-15b	CLIP-seq
MIRT2233028	hsa-miR-16	CLIP-seq
MIRT2233029	hsa-miR-195	CLIP-seq
MIRT2233030	hsa-miR-27a	CLIP-seq
MIRT2233031	hsa-miR-27b	CLIP-seq
MIRT2233032	hsa-miR-424	CLIP-seq
MIRT2233033	hsa-miR-4698	CLIP-seq
MIRT2233034	hsa-miR-497	CLIP-seq
MIRT2233035	hsa-miR-5047	CLIP-seq
MIRT2233036	hsa-miR-513a-5p	CLIP-seq
MIRT2536852	hsa-miR-1179	CLIP-seq
MIRT2536853	hsa-miR-122	CLIP-seq
MIRT1010816	hsa-miR-1256	CLIP-seq
MIRT1010817	hsa-miR-139-5p	CLIP-seq
MIRT2536854	hsa-miR-140-5p	CLIP-seq
MIRT2536855	hsa-miR-3117-5p	CLIP-seq
MIRT2536856	hsa-miR-3529	CLIP-seq
MIRT2536857	hsa-miR-3545-5p	CLIP-seq
MIRT2536858	hsa-miR-3659	CLIP-seq
MIRT2536859	hsa-miR-3662	CLIP-seq
MIRT2536860	hsa-miR-379	CLIP-seq
MIRT2536861	hsa-miR-4307	CLIP-seq
MIRT2536862	hsa-miR-4318	CLIP-seq
MIRT2536863	hsa-miR-4422	CLIP-seq
MIRT2536864	hsa-miR-4451	CLIP-seq
MIRT2536865	hsa-miR-4460	CLIP-seq
MIRT2536866	hsa-miR-4536	CLIP-seq
MIRT2536867	hsa-miR-4650-3p	CLIP-seq
MIRT2536868	hsa-miR-4691-3p	CLIP-seq
MIRT2536869	hsa-miR-4789-3p	CLIP-seq
MIRT2536870	hsa-miR-4802-5p	CLIP-seq
MIRT2536871	hsa-miR-487a	CLIP-seq
MIRT2536872	hsa-miR-548c-3p	CLIP-seq
MIRT2536852	hsa-miR-1179	CLIP-seq
MIRT2536853	hsa-miR-122	CLIP-seq
MIRT2536858	hsa-miR-3659	CLIP-seq
MIRT2536859	hsa-miR-3662	CLIP-seq
MIRT2536861	hsa-miR-4307	CLIP-seq
MIRT2536862	hsa-miR-4318	CLIP-seq
MIRT2536863	hsa-miR-4422	CLIP-seq
MIRT2536866	hsa-miR-4536	CLIP-seq
MIRT2536869	hsa-miR-4789-3p	CLIP-seq
MIRT2536870	hsa-miR-4802-5p	CLIP-seq
MIRT2536872	hsa-miR-548c-3p	CLIP-seq

Show/Hide all(17)

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
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
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:0016020	Component	Membrane	IEA
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:0030246	Function	Carbohydrate binding	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
610290	19877	ENSG00000119514

Protein

UniProt ID

Q8IXK2

Protein name

Polypeptide N-acetylgalactosaminyltransferase 12 (EC 2.4.1.41) (Polypeptide GalNAc transferase 12) (GalNAc-T12) (pp-GaNTase 12) (Protein-UDP acetylgalactosaminyltransferase 12) (UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12)

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. Has activity toward non-glycosylated peptides such as Muc5AC,

PDB

6PXU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00535	Glycos_transf_2	139 → 322	Glycosyl transferase family 2	Family
PF00652	Ricin_B_lectin	445 → 574	Ricin-type beta-trefoil lectin domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed at different levels of expression. Highly expressed in digestive organs such as small intestine, stomach, pancreas and colon. Expressed at intermediate level in testis, thyroid gland and spleen. Weakly expressed in who

Sequence

MWGRTARRRCPRELRRGREALLVLLALLALAGLGSVLRAQRGAGAGAAEPGPPRTPRPGR
REPVMPRPPVPANALGARGEAVRLQLQGEELRLQEESVRLHQINIYLSDRISLHRRLPER
WNPLCKEKKYDYDNLPRTSVIIAFYNEAWSTLLRTVYSVLETSPDILLEEVILVDDYSDR
EHLKERLANELSGLPKVRLIRANKREGLVRARLLGASAARGDVLTFLDCHCECHEGWLEP
LLQRIHEEESAVVCPVIDVIDWNTFEYLGNSGEPQIGGFDWRLVFTWHTVPERERIRMQS
PVDVIRSPTMAGGLFAVSKKYFEYLGSYDTGMEVWGGENLEFSFRIWQCGGVLETHPCSH
VGHVFPKQAPYSRNKALANSVRAAEVWMDEFKELYYHRNPRARLEPFGDVTERKQLRDKL
QCKDFKWFLETVYPELHVPEDRPGFFGMLQNKGLTDYCFDYNPPDENQIVGHQVILYLCH
GMGQNQFFEYTSQKEIRYNTHQPEGCIAVEAGMDTLIMHLCEETAPENQKFILQEDGSLF
HEQSKKCVQAARKESSDSFVPLLRDCTNSDHQKWFFKERML

Sequence length

581

Interactions

View interactions

	KEGG		Reactome
	Mucin type O-glycan biosynthesis Other types of O-glycan biosynthesis Metabolic pathways		Defective GALNT12 causes colorectal cancer 1 (CRCS1) O-linked glycosylation of mucins

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
colorectal cancer	Colorectal cancer, susceptibility to, 1, Familial colorectal cancer, Colorectal cancer	N/A	N/A	ClinVar
Colorectal Cancer	colorectal cancer, susceptibility to, 1	N/A	N/A	GenCC
Metabolic Syndrome	Taste perception (total score including phenylthiocarbamide) in obesity with metabolic syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	35046897
Adenoma	Associate	29095867
Attenuated familial adenomatous polyposis	Associate	29095867
Carcinogenesis	Associate	29095867
Colonic Neoplasms	Associate	20551049
Colorectal Neoplasms	Associate	20551049, 29749045
Galactosemias	Associate	33593824
Glomerulonephritis IGA	Associate	33593824
Inflammation	Associate	26448050
Lymphoma B Cell	Associate	26448050
Lymphoma Follicular	Associate	22473939
Neoplasms	Associate	20551049
Neoplastic Syndromes Hereditary	Associate	29095867
Pancreatic Neoplasms	Associate	39256447

GALNT12 (polypeptide N-acetylgalactosaminyltransferase 12)