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

Summary

Official Symbol: RFNGprovided by HGNC
Official Full Name: RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:9974
See related: Ensembl:ENSG00000169733 MIM:602578
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
Expression: Ubiquitous expression in ovary (RPKM 13.6), fat (RPKM 12.9) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 17q25.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
109.20200228	current	GRCh38.p13 (GCF_000001405.39)	17	NC_000017.11 (82047902..82051811, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (80005778..80009650, complement)

Chromosome 17 - NC_000017.11 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: 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?

Submit: New GeneRIF Correction

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)

General gene information

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Markers

RH98836 (e-PCR)
- UniSTS:86641

PMC111189P1 (e-PCR)
- UniSTS:270220

RH79807 (e-PCR)
- UniSTS:83632

RH35971 (e-PCR)
- UniSTS:11248

Homology

Homologs of the RFNG gene: The RFNG gene is conserved in Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 286 organisms have orthologs with human gene RFNG
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acetylglucosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
animal organ morphogenesis	NAS Non-traceable Author Statement more info	PubMed
cell differentiation	IEA Inferred from Electronic Annotation more info
nervous system development	IEA Inferred from Electronic Annotation more info
pattern specification process	IEA Inferred from Electronic Annotation more info
positive regulation of Notch signaling pathway	IEA Inferred from Electronic Annotation more info
positive regulation of protein binding	IEA Inferred from Electronic Annotation more info
protein O-linked fucosylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein O-linked fucosylation	ISS Inferred from Sequence or Structural Similarity more info
regulation of Notch signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
regulation of Notch signaling pathway	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
extracellular region	NAS Non-traceable Author Statement more info	PubMed
integral component of Golgi membrane	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase; radical fringe homolog

NP_002908.1

EC 2.4.1.222

XP_011521889.1

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_002917.2 → NP_002908.1 beta-1,3-N-acetylglucosaminyltransferase radical fringe precursor

See identical proteins and their annotated locations for NP_002908.1

Status: VALIDATED

Source sequence(s)

AC135056, AF038196, AF108139, AK094016, BC014495, BF435018

Consensus CDS

CCDS32773.1

UniProtKB/Swiss-Prot

Q9Y644

UniProtKB/TrEMBL

Q8N9R1

Related

ENSP00000307971.4, ENST00000310496.9

Conserved Domains (1) summary

pfam02434
Location:55 → 305

Fringe; Fringe-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p13 Primary Assembly

Range

82047902..82051811 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011523587.2 → XP_011521889.1 beta-1,3-N-acetylglucosaminyltransferase radical fringe isoform X1

UniProtKB/TrEMBL

F5H3H7

Related

ENSP00000402931.3, ENST00000429557.7

Conserved Domains (1) summary

pfam02434
Location:1 → 179

Fringe; Fringe-like