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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	283358
Gene name	Beta-1,4-N-acetyl-galactosaminyltransferase 3
Gene symbol	B4GALNT3
Synonyms (NCBI Gene)	-
Chromosome	12
Chromosome location	12p13.33
Summary	B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 200

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miRTarBase ID	miRNA	Experiments	Reference
MIRT052526	hsa-let-7a-5p	CLASH	23622248
MIRT043861	hsa-miR-378a-3p	CLASH	23622248
MIRT042532	hsa-miR-423-3p	CLASH	23622248
MIRT725651	hsa-miR-124-3p	HITS-CLIP	19536157
MIRT725651	hsa-miR-124-3p	HITS-CLIP	19536157
MIRT725650	hsa-miR-506-3p	HITS-CLIP	19536157
MIRT725649	hsa-miR-3714	HITS-CLIP	19536157
MIRT725648	hsa-miR-3910	HITS-CLIP	19536157
MIRT725647	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT725646	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT725645	hsa-miR-1915-5p	HITS-CLIP	19536157
MIRT725644	hsa-miR-6886-3p	HITS-CLIP	19536157
MIRT725643	hsa-miR-6851-3p	HITS-CLIP	19536157
MIRT725642	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT725641	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT725640	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT719422	hsa-miR-6507-3p	HITS-CLIP	19536157
MIRT719421	hsa-miR-3973	HITS-CLIP	19536157
MIRT719420	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT719419	hsa-miR-520h	HITS-CLIP	19536157
MIRT719418	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT719417	hsa-miR-3183	HITS-CLIP	19536157
MIRT719416	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT719415	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT719414	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT719413	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT719412	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT719411	hsa-miR-371a-5p	HITS-CLIP	19536157
MIRT719410	hsa-miR-372-5p	HITS-CLIP	19536157
MIRT719409	hsa-miR-4287	HITS-CLIP	19536157
MIRT719408	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT719407	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT719406	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT719405	hsa-miR-4757-5p	HITS-CLIP	19536157
MIRT719404	hsa-miR-6744-3p	HITS-CLIP	19536157
MIRT719403	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT719402	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT719401	hsa-miR-6878-3p	HITS-CLIP	19536157
MIRT641475	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT641474	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT641471	hsa-miR-623	HITS-CLIP	23824327
MIRT641470	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT641469	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT641468	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT641467	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT641466	hsa-miR-521	HITS-CLIP	23824327
MIRT641475	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT641474	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT641473	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT641472	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT641471	hsa-miR-623	HITS-CLIP	23824327
MIRT641470	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT641469	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT641466	hsa-miR-521	HITS-CLIP	23824327
MIRT641475	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT641474	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT641473	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT641472	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT641471	hsa-miR-623	HITS-CLIP	23824327
MIRT641470	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT641469	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT641468	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT641467	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT641466	hsa-miR-521	HITS-CLIP	23824327
MIRT719422	hsa-miR-6507-3p	HITS-CLIP	19536157
MIRT719421	hsa-miR-3973	HITS-CLIP	19536157
MIRT719420	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT719419	hsa-miR-520h	HITS-CLIP	19536157
MIRT719418	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT719417	hsa-miR-3183	HITS-CLIP	19536157
MIRT719416	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT719415	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT719414	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT719413	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT719412	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT719411	hsa-miR-371a-5p	HITS-CLIP	19536157
MIRT719410	hsa-miR-372-5p	HITS-CLIP	19536157
MIRT719409	hsa-miR-4287	HITS-CLIP	19536157
MIRT719408	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT719407	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT719406	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT719405	hsa-miR-4757-5p	HITS-CLIP	19536157
MIRT719404	hsa-miR-6744-3p	HITS-CLIP	19536157
MIRT719403	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT719402	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT719401	hsa-miR-6878-3p	HITS-CLIP	19536157
MIRT641475	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT641474	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT641471	hsa-miR-623	HITS-CLIP	23824327
MIRT641470	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT641469	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT641468	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT641467	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT641466	hsa-miR-521	HITS-CLIP	23824327
MIRT641475	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT641474	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT641473	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT641472	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT641471	hsa-miR-623	HITS-CLIP	23824327
MIRT641470	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT641469	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT641466	hsa-miR-521	HITS-CLIP	23824327
MIRT641475	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT641474	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT641473	hsa-miR-6509-3p	HITS-CLIP	23824327
MIRT641472	hsa-miR-4436b-5p	HITS-CLIP	23824327
MIRT641471	hsa-miR-623	HITS-CLIP	23824327
MIRT641470	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT641469	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT641468	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT641467	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT641466	hsa-miR-521	HITS-CLIP	23824327
MIRT813468	hsa-miR-1185	CLIP-seq
MIRT813469	hsa-miR-1193	CLIP-seq
MIRT813470	hsa-miR-1255a	CLIP-seq
MIRT813471	hsa-miR-1255b	CLIP-seq
MIRT813472	hsa-miR-205	CLIP-seq
MIRT813473	hsa-miR-2392	CLIP-seq
MIRT813474	hsa-miR-3605-5p	CLIP-seq
MIRT813475	hsa-miR-3679-5p	CLIP-seq
MIRT813476	hsa-miR-490-5p	CLIP-seq
MIRT2179489	hsa-miR-4286	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IBA
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IDA	12966086
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0033842	Function	N-acetyl-beta-glucosaminyl-derivative 4-beta-N-acetylgalactosaminyltransferase activity	IEA

MIM	HGNC	e!Ensembl
612220	24137	ENSG00000139044

Q6L9W6

Protein name

Beta-1,4-N-acetylgalactosaminyltransferase 3 (B4GalNAcT3) (Beta4GalNAc-T3) (Beta4GalNAcT3) (EC 2.4.1.244) (Beta-1,4-N-acetylgalactosaminyltransferase III) (N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2) (NGalNAc-T2)

Protein function

Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans. Mediate

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07691	PA14	156 → 274	PA14 domain	Domain
PF05679	CHGN	659 → 994	Chondroitin N-acetylgalactosaminyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in testis, colon and stomach. Weakly expressed in other tissues. {ECO:0000269|PubMed:12966086}.

Sequence

MGSPRAARPPLLLRPVKLLRRRFRLLLALAVVSVGLWTLYLELVASAQVGGNPLNRRYGS
WRELAKALASRNIPAVDPHLQFYHPQRLSLEDHDIDQGVSSNSSYLKWNKPVPWLSEFRG
RANLHVFEDWCGSSIQQLRRNLHFPLYPHIRTTLRKLAVSPKWTNYGLRIFGYLHPFTDG
KIQFAIAADDNAEFWLSLDDQVSGLQLLASVGKTGKEWTAPGEFGKFRSQISKPVSLSAS
HRYYFEVLHKQNEEGTDHVEVAWRRNDPGAKFTIIDSLSLSLFTNETFLQMDEVGHIPQT
AASHVDSSNALPRDEQPPADMLRPDPRDTLYRVPLIPKSHLRHVLPDCPYKPSYLVDGLP
LQRYQGLRFVHLSFVYPNDYTRLSHMETHNKCFYQENAYYQDRFSFQEYIKIDQPEKQGL
EQPGFEENLLEESQYGEVAEETPASNNQNARMLEGRQTPASTLEQDATDYRLRSLRKLLA
QPREGLLAPFSKRNSTASFPGRTSHIPVQQPEKRKQKPSPEPSQDSPHSDKWPPGHPVKN
LPQMRGPRPRPAGDSPRKTQWLNQVESYIAEQRRGDRMRPQAPGRGWHGEEEVVAAAGQE
GQVEGEEEGEEEEEEEDMSEVFEYVPVFDPVVNWDQTFSARNLDFQALRTDWIDLSCNTS
GNLLLPEQEALEVTRVFLKKLNQRSRGRYQLQRIVNVEKRQDQLRGGRYLLELELLEQGQ
RVVRLSEYVSARGWQGIDPAGGEEVEARNLQGLVWDPHNRRRQVLNTRAQEPKLCWPQGF
SWSHRAVVHFVVPVKNQARWVQQFIKDMENLFQVTGDPHFNIVITDYSSEDMDVEMALKR
SKLRSYQYVKLSGNFERSAGLQAGIDLVKDPHSIIFLCDLHIHFPAGVIDAIRKHCVEGK
MAFAPMVMRLHCGATPQWPEGYWEVNGFGLLGIYKSDLDRIGGMNTKEFRDRWGGEDWEL
LDRILQAGLDVERLSLRNFFHHFHSKRGMWSRRQMKTL

Sequence length

998

Interactions

View interactions

	KEGG
	Various types of N-glycan biosynthesis Metabolic pathways

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 Unknown Diseases (11)

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.
BONE FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYNEUROPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colon Carcinoma	Colon Carcinoma	BEFREE	25003232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25003232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25003232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	24289744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28853212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25003232, 28853212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	25003232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	21741930	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	24289744	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24855066, 28853212	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25803323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	25803323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

B4GALNT3 (beta-1,4-N-acetyl-galactosaminyltransferase 3)