B3GNT7 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: B3GNT7provided by HGNC
Official Full Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7provided by HGNC
Primary source: HGNC:HGNC:18811
See related: Ensembl:ENSG00000156966 MIM:615313; AllianceGenome:HGNC:18811
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: beta3GnT7
Summary: Enables acetylglucosaminyltransferase activity. Involved in keratan sulfate biosynthetic process. Predicted to be located in Golgi apparatus and membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in colon (RPKM 27.4), stomach (RPKM 7.8) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q37.1; 2q37.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (231395710..231401164)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (231880160..231885616)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (232260421..232265875)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification of glycogene-based prognostic signature and validation of B3GNT7 as a potential biomarker and therapeutic target in breast cancer.
Title: Identification of glycogene-based prognostic signature and validation of B3GNT7 as a potential biomarker and therapeutic target in breast cancer.
Interleukin-22 regulates B3GNT7 expression to induce fucosylation of glycoproteins in intestinal epithelial cells.
Title: Interleukin-22 regulates B3GNT7 expression to induce fucosylation of glycoproteins in intestinal epithelial cells.
The nude mice xenograft model demonstrated that ectopic expression of the B3GNT7 gene in colon cancer cells diminished the migration capability and the liver-metastasis potential, respectively, of colon cancer cells.
Title: Suppression of B3GNT7 gene expression in colon adenocarcinoma and its potential effect in the metastasis of colon cancer cells.
sulfated keratan sulfate is produced by beta3GNT7, beta4GalT4, CGn6ST, and KSG6ST
Title: Enzymes responsible for synthesis of corneal keratan sulfate glycosaminoglycans.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G10658 (e-PCR)
- UniSTS:3078

NoName (e-PCR)
- UniSTS:485682

B3GNT7_4416 (e-PCR)
- UniSTS:462763

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	TAS Traceable Author Statement more info
enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	TAS Traceable Author Statement more info
enables UDP-glycosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylglucosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in O-glycan processing	TAS Traceable Author Statement more info
involved_in keratan sulfate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in keratan sulfate biosynthetic process	TAS Traceable Author Statement more info
involved_in poly-N-acetyllactosamine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7

Names: BGnT-7; beta 1,3-N-acetylglucosaminyltransferase 7; beta-1,3-Gn-T7; beta3Gn-T7

NP_660279.1

EC 2.4.1.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.