MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: MFNGprovided by HGNC
Official Full Name: MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:7038
See related: Ensembl:ENSG00000100060 MIM:602577; AllianceGenome:HGNC:7038
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the LFNG (GeneID: 3955) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene may control Notch signaling in claudin-low breast cancer. [provided by RefSeq, May 2018]
Expression: Broad expression in lymph node (RPKM 25.3), spleen (RPKM 22.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (37469063..37486384, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (37929523..37947248, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (37865101..37882422, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MFNG is an independent prognostic marker for osteosarcoma.
Title: MFNG is an independent prognostic marker for osteosarcoma.
Nuclear and stromal expression of Manic fringe in renal cell carcinoma.
Title: Nuclear and stromal expression of Manic fringe in renal cell carcinoma.
MFNG imposes a negative correlation between Jag1 and Notch, being high Jag1 in the absence of MFNG predictive of poor prognosis.
Title: Manic Fringe deficiency imposes Jagged1 addiction to intestinal tumor cells.
Mfng is an oncogene acting through Notch-mediated induction of Pik3cg.
Title: Manic fringe promotes a claudin-low breast cancer phenotype through notch-mediated PIK3CG induction.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
down regulated in Papillomavirus-mediated cervical neoplasia.
Title: Papillomavirus-mediated neoplastic progression is associated with reciprocal changes in JAGGED1 and manic fringe expression linked to notch activation.

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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

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in blastocyst formation	IEA Inferred from Electronic Annotation more info
involved_in marginal zone B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in pattern specification process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in regulation of Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular space	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: beta-1,3-N-acetylglucosaminyltransferase manic fringe

Names: O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

NP_001159815.1

EC 2.4.1.222

NP_002396.2

EC 2.4.1.222

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.

mRNA and Protein(s)

NM_001166343.2 → NP_001159815.1 beta-1,3-N-acetylglucosaminyltransferase manic fringe isoform 2

See identical proteins and their annotated locations for NP_001159815.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the 5' exon and lacks an alternate 5' coding exon, compared to variant 1, resulting in a protein that maintains the reading frame but is shorter, compared to isoform 1.

Source sequence(s)

AI363008, AK297149, BC094814, BM457814

Consensus CDS

CCDS54525.1

UniProtKB/TrEMBL

A8K7V8

Related

ENSP00000413855.3, ENST00000416983.7

Conserved Domains (1) summary

pfam02434
Location:51 → 286

Fringe; Fringe-like
NM_002405.4 → NP_002396.2 beta-1,3-N-acetylglucosaminyltransferase manic fringe isoform 1

See identical proteins and their annotated locations for NP_002396.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AI363008, BC094814

Consensus CDS

CCDS13947.1

UniProtKB/Swiss-Prot

B4DLT6, O00587, O43730, Q504S9

UniProtKB/TrEMBL

A8K7V8

Related

ENSP00000349490.3, ENST00000356998.8

Conserved Domains (1) summary

pfam02434
Location:51 → 300

Fringe; Fringe-like

RNA

NR_029413.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AI363008, AK316555, BC094814, DA815501