KIRREL3

Kin of IRRE-like protein 3 (KIRREL3) also known as kin of irregular chiasm-like protein 3 or NEPH2 is a protein that in humans is encoded by the KIRREL3 gene.[5]

KIRREL3
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesKIRREL3, KIRRE, MRD4, NEPH2, PRO4502, kin of IRRE like 3 (Drosophila), Kin of IRRE-like protein 3, kirre like nephrin family adhesion molecule 3
External IDsOMIM: 607761 MGI: 1914953 HomoloGene: 57050 GeneCards: KIRREL3
Orthologs
SpeciesHumanMouse
Entrez

84623

67703

Ensembl

ENSG00000149571

ENSMUSG00000032036

UniProt

Q8IZU9

Q8BR86

RefSeq (mRNA)

NM_001161707
NM_001301097
NM_032531

NM_001190911
NM_001190912
NM_001190913
NM_001190914
NM_026324

RefSeq (protein)

NP_001155179
NP_001288026
NP_115920

NP_001177840
NP_001177841
NP_001177842
NP_001177843
NP_080600

Location (UCSC)Chr 11: 126.42 – 127 MbChr 9: 34.49 – 35.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

NEPH2 has been implicated in synapse formation.[6] Disruption of KIRREL3 gene function had been associated with abnormal brain function.[7]

NEPH1 and NEPH2 are involved in the blood filtration function of the kidney and are located in the slit diaphragm.[8]

References

  1. GRCh38: Ensembl release 89: ENSG00000149571 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000032036 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: kin of IRRE like 3 (Drosophila)".
  6. Gerke P, Benzing T, Höhne M, Kispert A, Frotscher M, Walz G, Kretz O (Oct 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): 466–75. doi:10.1002/cne.21064. PMID 16874800. S2CID 16564474.
  7. Bhalla K, Luo Y, Buchan T, Beachem MA, Guzauskas GF, Ladd S, Bratcher SJ, Schroer RJ, Balsamo J, DuPont BR, Lilien J, Srivastava AK (Dec 2008). "Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability". American Journal of Human Genetics. 83 (6): 703–13. doi:10.1016/j.ajhg.2008.10.020. PMC 2668064. PMID 19012874.
  8. 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 TB (Jun 2010). "A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis". Human Molecular Genetics. 19 (12): 2347–59. doi:10.1093/hmg/ddq108. PMID 20233749.

Further reading

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.