Gene LFNG - ENSG00000106003 | NCBI Gene ID: 3955

Details for: LFNG

Gene ID: 3955

Symbol: LFNG

Ensembl ID: ENSG00000106003

Description: LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Associated with

Defective lfng causes scdo3
(R-HSA-5083630)
Developmental biology
(R-HSA-1266738)
Disease
(R-HSA-1643685)
Diseases associated with o-glycosylation of proteins
(R-HSA-3906995)
Diseases of glycosylation
(R-HSA-3781865)
Diseases of metabolism
(R-HSA-5668914)
Formation of paraxial mesoderm
(R-HSA-9793380)
Gastrulation
(R-HSA-9758941)
Kidney development
(R-HSA-9830369)
Nephron development
(R-HSA-9831926)
Pre-notch expression and processing
(R-HSA-1912422)
Pre-notch processing in golgi
(R-HSA-1912420)
Signaling by notch
(R-HSA-157118)
Signal transduction
(R-HSA-162582)
Animal organ morphogenesis
(GO:0009887)
Compartment pattern specification
(GO:0007386)
Extracellular region
(GO:0005576)
Extracellular vesicle
(GO:1903561)
Golgi membrane
(GO:0000139)
Marginal zone b cell differentiation
(GO:0002315)
Metal ion binding
(GO:0046872)
Negative regulation of notch signaling pathway involved in somitogenesis
(GO:1902367)
O-fucosylpeptide 3-beta-n-acetylglucosaminyltransferase activity
(GO:0033829)
Ovarian follicle development
(GO:0001541)
Positive regulation of meiotic cell cycle
(GO:0051446)
Positive regulation of notch signaling pathway
(GO:0045747)
Regulation of notch signaling pathway
(GO:0008593)
Regulation of somitogenesis
(GO:0014807)
Somitogenesis
(GO:0001756)
T cell differentiation
(GO:0030217)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 1.53
Marker Score: 3104
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 1.34
Marker Score: 2544
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 1.11
Marker Score: 665
Cell Name: mononuclear cell (CL0000842)
Fold Change: 1.08
Marker Score: 348
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71786
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48011
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30405
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.98
Marker Score: 306
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.95
Marker Score: 489
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2408
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.94
Marker Score: 443
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2724
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.89
Marker Score: 5087
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5267
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.86
Marker Score: 309
Cell Name: tracheal goblet cell (CL1000329)
Fold Change: 0.83
Marker Score: 2346.5
Cell Name: P/D1 enteroendocrine cell (CL0002268)
Fold Change: 0.8
Marker Score: 297
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 0.79
Marker Score: 5021
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 0.78
Marker Score: 43564
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.77
Marker Score: 1256
Cell Name: non-classical monocyte (CL0000875)
Fold Change: 0.77
Marker Score: 1860
Cell Name: lung macrophage (CL1001603)
Fold Change: 0.74
Marker Score: 850
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.74
Marker Score: 565
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.73
Marker Score: 378
Cell Name: brush cell (CL0002204)
Fold Change: 0.72
Marker Score: 654
Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
Fold Change: 0.7
Marker Score: 1366
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.7
Marker Score: 10942
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.68
Marker Score: 2841
Cell Name: intestine goblet cell (CL0019031)
Fold Change: 0.68
Marker Score: 648
Cell Name: common lymphoid progenitor (CL0000051)
Fold Change: 0.68
Marker Score: 460
Cell Name: mucous neck cell (CL0000651)
Fold Change: 0.67
Marker Score: 1512
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.66
Marker Score: 169
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.66
Marker Score: 264
Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.64
Marker Score: 642.5
Cell Name: renal beta-intercalated cell (CL0002201)
Fold Change: 0.63
Marker Score: 201
Cell Name: mesangial cell (CL0000650)
Fold Change: 0.63
Marker Score: 764
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.63
Marker Score: 1487
Cell Name: astrocyte (CL0000127)
Fold Change: 0.63
Marker Score: 543
Cell Name: naive regulatory T cell (CL0002677)
Fold Change: 0.62
Marker Score: 188
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 0.61
Marker Score: 13018
Cell Name: IgG memory B cell (CL0000979)
Fold Change: 0.58
Marker Score: 350
Cell Name: transitional stage B cell (CL0000818)
Fold Change: 0.58
Marker Score: 205
Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 0.56
Marker Score: 293
Cell Name: lung endothelial cell (CL1001567)
Fold Change: 0.56
Marker Score: 4878
Cell Name: enteroendocrine cell (CL0000164)
Fold Change: 0.54
Marker Score: 282
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.54
Marker Score: 430
Cell Name: pulmonary ionocyte (CL0017000)
Fold Change: 0.53
Marker Score: 327
Cell Name: pancreatic D cell (CL0000173)
Fold Change: 0.51
Marker Score: 223
Cell Name: large intestine goblet cell (CL1000320)
Fold Change: 0.51
Marker Score: 135
Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.51
Marker Score: 1075
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.5
Marker Score: 331
Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: 0.49
Marker Score: 286
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.49
Marker Score: 233
Cell Name: myeloid cell (CL0000763)
Fold Change: 0.49
Marker Score: 780
Cell Name: acinar cell (CL0000622)
Fold Change: 0.48
Marker Score: 336
Cell Name: alveolar macrophage (CL0000583)
Fold Change: 0.47
Marker Score: 12124
Cell Name: type L enteroendocrine cell (CL0002279)
Fold Change: 0.47
Marker Score: 128
Cell Name: classical monocyte (CL0000860)
Fold Change: 0.47
Marker Score: 1938
Cell Name: memory regulatory T cell (CL0002678)
Fold Change: 0.46
Marker Score: 162
Cell Name: mature astrocyte (CL0002627)
Fold Change: 0.44
Marker Score: 291
Cell Name: neural progenitor cell (CL0011020)
Fold Change: 0.44
Marker Score: 1697
Cell Name: granulocyte (CL0000094)
Fold Change: 0.43
Marker Score: 193
Cell Name: DN3 thymocyte (CL0000807)
Fold Change: 0.42
Marker Score: 209
Cell Name: paneth cell (CL0000510)
Fold Change: 0.42
Marker Score: 291
Cell Name: elicited macrophage (CL0000861)
Fold Change: 0.41
Marker Score: 2497
Cell Name: IgG-negative class switched memory B cell (CL0002117)
Fold Change: 0.41
Marker Score: 403
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.4
Marker Score: 105
Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
Fold Change: 0.4
Marker Score: 173
Cell Name: DN1 thymic pro-T cell (CL0000894)
Fold Change: 0.4
Marker Score: 123
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.4
Marker Score: 105
Cell Name: stem cell (CL0000034)
Fold Change: 0.39
Marker Score: 928
Cell Name: endothelial cell (CL0000115)
Fold Change: 0.38
Marker Score: 344
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.38
Marker Score: 222
Cell Name: lung microvascular endothelial cell (CL2000016)
Fold Change: 0.38
Marker Score: 80
Cell Name: intermediate monocyte (CL0002393)
Fold Change: 0.34
Marker Score: 119
Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: 0.34
Marker Score: 855
Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.34
Marker Score: 84
Cell Name: endocrine cell (CL0000163)
Fold Change: 0.34
Marker Score: 175
Cell Name: glandular cell of esophagus (CL0002657)
Fold Change: 0.34
Marker Score: 107
Cell Name: basal cell (CL0000646)
Fold Change: 0.34
Marker Score: 433
Cell Name: retinal blood vessel endothelial cell (CL0002585)
Fold Change: 0.33
Marker Score: 80
Cell Name: blood cell (CL0000081)
Fold Change: 0.33
Marker Score: 3849
Cell Name: myeloid leukocyte (CL0000766)
Fold Change: 0.33
Marker Score: 399
Cell Name: early pro-B cell (CL0002046)
Fold Change: 0.33
Marker Score: 3328
Cell Name: vein endothelial cell (CL0002543)
Fold Change: 0.32
Marker Score: 289
Cell Name: lung goblet cell (CL1000143)
Fold Change: 0.32
Marker Score: 92
Cell Name: mast cell (CL0000097)
Fold Change: 0.32
Marker Score: 185
Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
Fold Change: 0.32
Marker Score: 298
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.32
Marker Score: 3581
Cell Name: type G enteroendocrine cell (CL0000508)
Fold Change: 0.31
Marker Score: 108
Cell Name: common dendritic progenitor (CL0001029)
Fold Change: 0.31
Marker Score: 108
Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
Fold Change: 0.31
Marker Score: 807
Cell Name: kidney collecting duct cell (CL1001225)
Fold Change: 0.3
Marker Score: 59.5
Cell Name: colon epithelial cell (CL0011108)
Fold Change: 0.3
Marker Score: 948
Cell Name: mature NK T cell (CL0000814)
Fold Change: 0.3
Marker Score: 139
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.3
Marker Score: 190
Cell Name: monocyte (CL0000576)
Fold Change: 0.3
Marker Score: 386
Cell Name: leukocyte (CL0000738)
Fold Change: 0.29
Marker Score: 168
Cell Name: pro-B cell (CL0000826)
Fold Change: 0.29
Marker Score: 279
Cell Name: type EC enteroendocrine cell (CL0000577)
Fold Change: 0.29
Marker Score: 270

Hover over a box to see details here...

**Key characteristics:** - The LFNG gene is located on chromosome 17q23.1. - It is a single-exon gene encoding a protein of 343 amino acids. - It is expressed in a variety of cell types, including immune cells, cardiac cells, and renal cells. **Pathways and functions:** - LFNG is an enzyme that catalyzes the addition of an O-fucosyl group to a specific amino acid residue in proteins. - This modification is essential for the proper folding and function of many proteins, including those involved in cell adhesion, signaling, and transcription. - In the context of O-glycosylation, LFNG is involved in the formation of the extracellular matrix protein fibronectin, which is essential for the structure and function of blood vessels. - It is also involved in the regulation of Notch signaling, a key signaling pathway involved in development and tissue homeostasis. **Clinical significance:** - Mutations in the LFNG gene have been linked to several human diseases, including scdo3 (severe combined immunodeficiency with immunodeficiency, diabetes, and craniosynostosis), developmental disorders, and cancer. - These diseases are characterized by a variety of symptoms, including immunodeficiency, diabetes, and developmental abnormalities. - Understanding the role of LFNG in O-glycosylation and Notch signaling provides new insights into the development and treatment of these diseases.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

Genular Protein ID: 4095017052

Symbol: LFNG_HUMAN

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

UniProtKB Accession Codes:

Q8NES3 B3KTY6 B5MCR5 O00589 Q96C39 Q9UJW5

Database IDs:

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 9187150

Title: A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway.

PubMed ID: 9187150

DOI: 10.1242/dev.124.11.2245

PubMed ID: 12110169

Title: Clock regulatory elements control cyclic expression of Lunatic fringe during somitogenesis.

PubMed ID: 12110169

DOI: 10.1016/s1534-5807(02)00212-5

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11346656

Title: Manic fringe and lunatic fringe modify different sites of the Notch2 extracellular region, resulting in different signaling modulation.

PubMed ID: 11346656

DOI: 10.1074/jbc.m103473200

PubMed ID: 16385447

Title: Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.

PubMed ID: 16385447

DOI: 10.1086/498879

PubMed ID: 18485326

Title: Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.

PubMed ID: 18485326

DOI: 10.1016/j.ajhg.2008.04.014

PubMed ID: 30531807

Title: Identification of novel LFNG mutations in spondylocostal dysostosis.

PubMed ID: 30531807

DOI: 10.1038/s10038-018-0548-2

Sequence Information:

Length: 379
Mass: 41773
Checksum: 4400ECA731B36B45
Sequence:

MLKRCGRRLL LALAGALLAC LLVLTADPPP PPLPAERGRR ALRSLAGPAG AAPAPGLGAA 
AAAPGALVRD VHSLSEYFSL LTRARRDAGP PPGAAPRPAD GHPRPLAEPL APRDVFIAVK 
TTKKFHRARL DLLLETWISR HKEMTFIFTD GEDEALARHT GNVVITNCSA AHSRQALSCK 
MAVEYDRFIE SGRKWFCHVD DDNYVNLRAL LRLLASYPHT RDVYVGKPSL DRPIQAMERV 
SENKVRPVHF WFATGGAGFC ISRGLALKMS PWASGGHFMN TAERIRLPDD CTIGYIVEAL 
LGVPLIRSGL FHSHLENLQQ VPTSELHEQV TLSYGMFENK RNAVHVKGPF SVEADPSRFR 
SIHCHLYPDT PWCPRTAIF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.

Details for: LFNG

Associated with

Cells (max top 100)

Other Information

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence of human chromosome 7. PubMed ID: 12853948

A family of mammalian Fringe genes implicated in boundary determination and the Notch pathway. PubMed ID: 9187150

Clock regulatory elements control cyclic expression of Lunatic fringe during somitogenesis. PubMed ID: 12110169

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Manic fringe and lunatic fringe modify different sites of the Notch2 extracellular region, resulting in different signaling modulation. PubMed ID: 11346656

Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. PubMed ID: 16385447

Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. PubMed ID: 18485326

Identification of novel LFNG mutations in spondylocostal dysostosis. PubMed ID: 30531807