KIRREL2 (kirre like nephrin family adhesion molecule 2)

2014-11-01  

Identity

HGNC
LOCATION
19q13.12
LOCUSID
ALIAS
FILTRIN,NEPH3,NLG1
FUSION GENES

Other Information

Locus ID:

NCBI: 84063
MIM: 607762
HGNC: 18816
Ensembl: ENSG00000126259

Variants:

dbSNP: 84063
ClinVar: 84063
TCGA: ENSG00000126259
COSMIC: KIRREL2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126259ENST00000262625A0A0A0MQV3
ENSG00000126259ENST00000347900A0A0A0MRC1
ENSG00000126259ENST00000360202Q6UWL6
ENSG00000126259ENST00000586102V9GXZ7
ENSG00000126259ENST00000592409K7EJS8

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Cell-Cell communicationREACTOMER-HSA-1500931
Nephrin interactionsREACTOMER-HSA-373753

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
128372642003Kirrel2, a novel immunoglobulin superfamily gene expressed primarily in beta cells of the pancreatic islets.11
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
219801572012Transcription of nephrin-Neph3 gene pair is synergistically activated by WT1 and NF-κB and silenced by DNA methylation.9
242191582014Functions of the podocyte proteins nephrin and Neph3 and the transcriptional regulation of their genes.9
125040922003Filtrin is a novel member of nephrin-like proteins.8
125040922003Filtrin is a novel member of nephrin-like proteins.8
283340072017A functional variant in NEPH3 gene confers high risk of renal failure in primary hematuric glomerulopathies. Evidence for predisposition to microalbuminuria in the general population.5
197032782009Regulation of Neph3 gene in podocytes--key roles of transcription factors NF-kappaB and Sp1.4

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