KIRREL3

From Wikipedia, the free encyclopedia
Jump to: navigation, search
KIRREL3
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases KIRREL3, KIRRE, MRD4, NEPH2, PRO4502, kin of IRRE like 3 (Drosophila), Kin of IRRE-like protein 3
External IDs MGI: 1914953 HomoloGene: 57050 GeneCards: KIRREL3
Genetically Related Diseases
attention deficit hyperactivity disorder, conduct disorder[1]
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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

Location (UCSC) Chr 11: 126.42 – 127 Mb Chr 9: 34.49 – 35.04 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

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.[4]

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[edit]

NEPH2 has been implicated in synapse formation.[5] Disruption of KIRREL3 gene function had been associated with abnormal brain function.[6]

NEPH1 and NEPH2 are involved in the blood filtration function of the kidney and are located in the slit diaphragm.[7]

References[edit]

  1. ^ "Diseases that are genetically associated with KIRREL3 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ "Entrez Gene: kin of IRRE like 3 (Drosophila)". 
  5. ^ 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. 
  6. ^ 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 2668064Freely accessible. PMID 19012874. 
  7. ^ 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[edit]