KIRREL3

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Kin of IRRE like 3 (Drosophila)
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols KIRREL3 ; KIRRE; MRD4; NEPH2; PRO4502
External IDs OMIM607761 MGI1914953 HomoloGene57050 GeneCards: KIRREL3 Gene
Orthologs
Species Human Mouse
Entrez 84623 67703
Ensembl ENSG00000149571 ENSMUSG00000032036
UniProt Q8IZU9 Q8BR86
RefSeq (mRNA) NM_001161707 NM_001190911
RefSeq (protein) NP_001155179 NP_001177840
Location (UCSC) Chr 11:
126.29 – 126.87 Mb
Chr 9:
34.49 – 35.04 Mb
PubMed search [1] [2]

Kin of IRRE-like protein 3 (KIRREL3) also known as kin of irregular chiasm-like protein 3 or nephrin-like protein 2 (NEPH2) is a protein that in humans is encoded by the KIRREL3 gene.[1]

NEPH2 is a member of the nephrin-like protein family of transmembrane proteins, which includes NEPH1 (KIRREL) and NEPH3 (KIRREL2). The nephrin-like proteins can interact with nephrin and CASK.

Function[edit]

NEPH2 has been implicated in synapse formation.[2] Disruption of KIRREL3 gene function had been associated with abnormal brain function.[3]

NEPH1 and NEPH2 are involved in the blood filtration function of the kidney and are located in the slit diaphragm.[4]

References[edit]

  1. ^ "Entrez Gene: kin of IRRE like 3 (Drosophila)". 
  2. ^ Gerke, P.; Benzing, T.; Höhne, M.; Kispert, A.; Frotscher, M.; Walz, G.; Kretz, O. (2006). "Neuronal expression and interaction with the synaptic protein CASK suggest a role for Neph1 and Neph2 in synaptogenesis". The Journal of Comparative Neurology 498 (4): 466–475. doi:10.1002/cne.21064. PMID 16874800.  edit
  3. ^ Bhalla, K.; Luo, Y.; Buchan, T.; Beachem, M. A.; Guzauskas, G. F.; Ladd, S.; Bratcher, S. J.; Schroer, R. J.; Balsamo, J.; Dupont, B. R.; Lilien, J.; Srivastava, A. K. (2008). "Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability". The American Journal of Human Genetics 83 (6): 703–713. doi:10.1016/j.ajhg.2008.10.020. PMC 2668064. PMID 19012874.  edit
  4. ^ Neumann-Haefelin, E.; Kramer-Zucker, A.; Slanchev, K.; Hartleben, B.; Noutsou, F.; Martin, K.; Wanner, N.; Ritter, A.; Gödel, M.; Pagel, P.; Fu, X.; Müller, A.; Baumeister, R.; Walz, G.; Huber, T. B. (2010). "A model organism approach: Defining the role of Neph proteins as regulators of neuron and kidney morphogenesis". Human Molecular Genetics 19 (12): 2347–2359. doi:10.1093/hmg/ddq108. PMID 20233749.  edit

Further reading[edit]