human-NLGN2

 
Homo sapiens (Human) neuroligin 2 (KIAA1366)

Comment
Transmembrane scaffolding protein involved in cell-cell interactions via its interactions with neurexin family members. Mediates cell-cell interactions both in neurons and in other types of cells, such as Langerhans beta cells. Plays a role in synapse function and synaptic signal transmission, especially via gamma-aminobutyric acid receptors (GABA(A) receptors). Functions by recruiting and clustering synaptic proteins. Promotes clustering of postsynaptic GABRG2 and GPHN. Modulates signaling by inhibitory synapses, and thereby plays a role in controlling the ratio of signaling by excitatory and inhibitory synapses and information processing. Required for normal signal amplitude from inhibitory synapses, but is not essential for normal signal frequency. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. Mediates cell-cell interactions between Langerhans beta cells and modulates insulin secretion


Relationship
Family Neuroligin
Block C
Homo sapiens position in NCBI Life Tree :
N link to NCBI taxonomic web page and E link to ESTHER gene locus found in this strain.
> cellular organisms: N E > Eukaryota: N E > Opisthokonta: N E > Metazoa: N E > Eumetazoa: N E > Bilateria: N E > Deuterostomia: N E > Chordata: N E > Craniata: N E > Vertebrata: N E > Gnathostomata: N E > Teleostomi: N E > Euteleostomi: N E > Sarcopterygii: N E > Dipnotetrapodomorpha: N E > Tetrapoda: N E > Amniota: N E > Mammalia: N E > Theria: N E > Eutheria: N E > Boreoeutheria: N E > Euarchontoglires: N E > Primates: N E > Haplorrhini: N E > Simiiformes: N E > Catarrhini: N E > Hominoidea: N E > Hominidae: N E > Homininae: N E > Homo: N E > Homo sapiens: N E

Molecular evidence
Database
2 mutations: Table (ordered Natural and SD mutagenesis)R215H, Y147stop
1 structure:
5XEQ: Crystal Structure of human MDGA1 and human neuroligin-2 complex
No kinetic
Disease: Neuroligin 2 Suceptibility Schizophrenia, anxiety, autism, intellectual disability, hyperphagia, and obesity -


>3 Genbank links 1 more: AB037787, AF376802_1, AF376802
2 UniProt : Q8NFZ4, I3L498
1 Ncbi-nid : 21309946
1 Ncbi-pid : 21309947
1 Structure : 5XEQ
2 UniProtTrembl : Q8NFZ4, I3L498
2 Interpro : Q8NFZ4, I3L498
2 Prodom : Q8NFZ4, I3L498
2 Pfam : Q8NFZ4, I3L498
2 PIRSF : Q8NFZ4, I3L498
2 SUPERFAM : Q8NFZ4, I3L498
2 QuickSwissBlast : Q8NFZ4, I3L498
1 EntrezGene : 57555
1 SNP : 57555
1 UniGene : 26229
1 HUGO HGNC : 14290
1 OMIM : 606479
1 Ensembl : ENSG00000169992
 
Sequence
Graphical view for this peptide sequence: human-NLGN2
Colored MSA for Neuroligin (raw)
MWLLALCLVGLAGAQRGGGGPGGGAPGGPGLGLGSLGEERFPVVNTAYGR
VRGVRRELNNEILGPVVQFLGVPYATPPLGARRFQPPEAPASWPGVRNAT
TLPPACPQNLHGALPAIMLPVWFTDNLEAAATYVQNQSEDCLYLNLYVPT
EDGPLTKKRDEATLNPPDTDIRDPGKKPVMLFLHGGSYMEGTGNMFDGSV
LAAYGNVIVATLNYRLGVLGFLSTGDQAAKGNYGLLDQIQALRWLSENIA
HFGGDPERITIFGSGAGASCVNLLILSHHSEGLFQKAIAQSGTAISSWSV
NYQPLKYTRLLAAKVGCDREDSAEAVECLRRKPSRELVDQDVQPARYHIA
FGPVVDGDVVPDDPEILMQQGEFLNYDMLIGVNQGEGLKFVEDSAESEDG
VSASAFDFTVSNFVDNLYGYPEGKDVLRETIKFMYTDWADRDNGEMRRKT
LLALFTDHQWVAPAVATAKLHADYQSPVYFYTFYHHCQAEGRPEWADAAH
GDELPYVFGVPMVGATDLFPCNFSKNDVMLSAVVMTYWTNFAKTGDPNQP
VPQDTKFIHTKPNRFEEVVWSKFNSKEKQYLHIGLKPRVRDNYRANKVAF
WLELVPHLHNLHTELFTTTTRLPPYATRWPPRPPAGAPGTRRPPPPATLP
PEPEPEPGPRAYDRFPGDSRDYSTELSVTVAVGASLLFLNILAFAALYYK
RDRRQELRCRRLSPPGGSGSGVPGGGPLLPAAGRELPPEEELVSLQLKRG
GGVGADPAEALRPACPPDYTLALRRAPDDVPLLAPGALTLLPSGLGPPPP
PPPPSLHPFGPFPPPPPTATSHNNTLPHPHSTTRV
Legend This sequence has been compared to family alignement (MSA)
red => minority aminoacid
blue => majority aminoacid
color intensity => conservation rate
title => sequence position(MSA position)aminoacid rate
Catalytic site
Catalytic site in the MSA

MWLLALCLVGLAGAQRGGGGPGGGAPGGPGLGLGSLGEERFPVVNTAYGR
VRGVRRELNNEILGPVVQFLGVPYATPPLGARRFQPPEAPASWPGVRNAT
TLPPACPQNLHGALPAIMLPVWFTDNLEAAATYVQNQSEDCLYLNLYVPT
EDGPLTKKRDEATLNPPDTDIRDPGKKPVMLFLHGGSYMEGTGNMFDGSV
LAAYGNVIVATLNYRLGVLGFLSTGDQAAKGNYGLLDQIQALRWLSENIA
HFGGDPERITIFGSGAGASCVNLLILSHHSEGLFQKAIAQSGTAISSWSV
NYQPLKYTRLLAAKVGCDREDSAEAVECLRRKPSRELVDQDVQPARYHIA
FGPVVDGDVVPDDPEILMQQGEFLNYDMLIGVNQGEGLKFVEDSAESEDG
VSASAFDFTVSNFVDNLYGYPEGKDVLRETIKFMYTDWADRDNGEMRRKT
LLALFTDHQWVAPAVATAKLHADYQSPVYFYTFYHHCQAEGRPEWADAAH
GDELPYVFGVPMVGATDLFPCNFSKNDVMLSAVVMTYWTNFAKTGDPNQP
VPQDTKFIHTKPNRFEEVVWSKFNSKEKQYLHIGLKPRVRDNYRANKVAF
WLELVPHLHNLHTELFTTTTRLPPYATRWPPRPPAGAPGTRRPPPPATLP
PEPEPEPGPRAYDRFPGDSRDYSTELSVTVAVGASLLFLNILAFAALYYK
RDRRQELRCRRLSPPGGSGSGVPGGGPLLPAAGRELPPEEELVSLQLKRG
GGVGADPAEALRPACPPDYTLALRRAPDDVPLLAPGALTLLPSGLGPPPP
PPPPSLHPFGPFPPPPPTATSHNNTLPHPHSTTRV

Graphical view for this nucleotide DNA sequence (3804 bp): human-NLGN2



References
7 more
    Title: Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
    Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M and Bourgeron T <1 more author(s)>
    Ref: Nat Genet, 34:27, 2003 : PubMed

            

    Title: Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro
    Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O
    Ref: DNA Research, 7:65, 2000 : PubMed

            

    Title: Binding of neuroligins to PSD-95
    Irie M, Hata Y, Takeuchi M, Ichtchenko K, Toyoda A, Hirao K, Takai Y, Rosahl TW, Sudhof TC
    Ref: Science, 277:1511, 1997 : PubMed

            


Other Papers


Send your questions or comments to :
Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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