KIRREL3 (kirre like nephrin family adhesion molecule 3)

2014-11-01  

Identity

HGNC
LOCATION
11q24.2
LOCUSID
ALIAS
KIRRE,MRD4,NEPH2,PRO4502
FUSION GENES

Other Information

Locus ID:

NCBI: 84623
MIM: 607761
HGNC: 23204
Ensembl: ENSG00000149571

Variants:

dbSNP: 84623
ClinVar: 84623
TCGA: ENSG00000149571
COSMIC: KIRREL3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149571ENST00000525144Q8IZU9
ENSG00000149571ENST00000525704Q8IZU9
ENSG00000149571ENST00000529097E9PRX9

Expression (GTEx)

0
5
10
15
20
25

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
190128742008Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.34
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
259022602015Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment.11
254880232014Identification of novel Kirrel3 gene splice variants in adult human skeletal muscle.0

Citation

Dessen P

KIRREL3 (kirre like nephrin family adhesion molecule 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64939/kirrel3