Identity
HGNC
LOCATION
19q13.12
LOCUSID
ALIAS
FILTRIN,NEPH3,NLG1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84063
MIM: 607762
HGNC: 18816
Ensembl: ENSG00000126259
Variants:
dbSNP: 84063
ClinVar: 84063
TCGA: ENSG00000126259
COSMIC: KIRREL2
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Cell-Cell communication | REACTOME | R-HSA-1500931 |
| Nephrin interactions | REACTOME | R-HSA-373753 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28334007 | 2017 | A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population. | 12 |
| 28334007 | 2017 | A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population. | 12 |
| 24219158 | 2014 | Functions of the podocyte proteins nephrin and Neph3 and the transcriptional regulation of their genes. | 13 |
| 24219158 | 2014 | Functions of the podocyte proteins nephrin and Neph3 and the transcriptional regulation of their genes. | 13 |
| 21980157 | 2012 | Transcription of nephrin-Neph3 gene pair is synergistically activated by WT1 and NF-κB and silenced by DNA methylation. | 11 |
| 21980157 | 2012 | Transcription of nephrin-Neph3 gene pair is synergistically activated by WT1 and NF-κB and silenced by DNA methylation. | 11 |
| 20237496 | 2010 | New genetic associations detected in a host response study to hepatitis B vaccine. | 37 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20237496 | 2010 | New genetic associations detected in a host response study to hepatitis B vaccine. | 37 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19703278 | 2009 | Regulation of Neph3 gene in podocytes--key roles of transcription factors NF-kappaB and Sp1. | 5 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19703278 | 2009 | Regulation of Neph3 gene in podocytes--key roles of transcription factors NF-kappaB and Sp1. | 5 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 16741999 | 2007 | Densin and filtrin in the pancreas and in the kidney, targets for humoral autoimmunity in patients with type 1 diabetes. | 3 |
Citation
Dessen P
KIRREL2 (kirre like nephrin family adhesion molecule 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64938/kirrel2-(kirre-like-nephrin-family-adhesion-molecule-2)
