KIRREL2 (kirre like nephrin family adhesion molecule 2)

2014-11-01  

Identity

HGNC
KIRREL2
LOCATION
19q13.12
LOCUSID
84063
ALIAS
FILTRIN,NEPH3,NLG1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
testis
epididymis
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
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.12
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.12
242191582014Functions of the podocyte proteins nephrin and Neph3 and the transcriptional regulation of their genes.13
242191582014Functions of the podocyte proteins nephrin and Neph3 and the transcriptional regulation of their genes.13
219801572012Transcription of nephrin-Neph3 gene pair is synergistically activated by WT1 and NF-κB and silenced by DNA methylation.11
219801572012Transcription of nephrin-Neph3 gene pair is synergistically activated by WT1 and NF-κB and silenced by DNA methylation.11
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
197032782009Regulation of Neph3 gene in podocytes--key roles of transcription factors NF-kappaB and Sp1.5
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
197032782009Regulation of Neph3 gene in podocytes--key roles of transcription factors NF-kappaB and Sp1.5
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
167419992007Densin 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/js/lib/js/favicon/apple-touch-icon.png