LGI2_HUMAN
ID LGI2_HUMAN Reviewed; 545 AA.
AC Q8N0V4; Q3MIN2; Q8NDW6; Q96PX2; Q9NVK4;
DT 03-JUL-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Leucine-rich repeat LGI family member 2;
DE AltName: Full=LGI1-like protein 2;
DE AltName: Full=Leucine-rich glioma-inactivated protein 2;
DE Flags: Precursor;
GN Name=LGI2; Synonyms=KIAA1916, LGIL2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX PubMed=12023020; DOI=10.1016/s0014-5793(02)02713-8;
RA Gu W., Wevers A., Schroder H., Grzeschik K.H., Derst C., Brodtkorb E.,
RA de Vos R., Steinlein O.K.;
RT "The LGI1 gene involved in lateral temporal lobe epilepsy belongs to a new
RT subfamily of leucine-rich repeat proteins.";
RL FEBS Lett. 519:71-76(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=12095917; DOI=10.1093/hmg/11.15.1757;
RA Scheel H., Tomiuk S., Hofmann K.;
RT "A common protein interaction domain links two recently identified epilepsy
RT genes.";
RL Hum. Mol. Genet. 11:1757-1762(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=12217514; DOI=10.1016/s0968-0004(02)02163-1;
RA Staub E., Perez-Tur J., Siebert R., Nobile C., Moschonas N.K., Deloukas P.,
RA Hinzmann B.;
RT "The novel EPTP repeat defines a superfamily of proteins implicated in
RT epileptic disorders.";
RL Trends Biochem. Sci. 27:441-444(2002).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-545.
RC TISSUE=Brain;
RX PubMed=11572484; DOI=10.1093/dnares/8.4.179;
RA Nagase T., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XXI. The
RT complete sequences of 60 new cDNA clones from brain which code for large
RT proteins.";
RL DNA Res. 8:179-187(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 322-545.
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
CC -!- FUNCTION: Required for the development of soma-targeting inhibitory
CC GABAergic synapses made by parvalbumin-positive basket cells.
CC {ECO:0000250|UniProtKB:Q8K4Z0}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Brain, heart and placenta.
CC {ECO:0000269|PubMed:12023020}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91746.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF467955; AAM49553.1; -; mRNA.
DR EMBL; AJ487958; CAD32305.1; -; mRNA.
DR EMBL; AJ487516; CAD31784.1; -; mRNA.
DR EMBL; BC101759; AAI01760.1; -; mRNA.
DR EMBL; BC101761; AAI01762.1; -; mRNA.
DR EMBL; AB067503; BAB67809.1; -; mRNA.
DR EMBL; AK001537; BAA91746.1; ALT_INIT; mRNA.
DR CCDS; CCDS3431.1; -.
DR RefSeq; NP_060646.2; NM_018176.3.
DR AlphaFoldDB; Q8N0V4; -.
DR SMR; Q8N0V4; -.
DR BioGRID; 120499; 8.
DR STRING; 9606.ENSP00000371548; -.
DR GlyGen; Q8N0V4; 4 sites.
DR iPTMnet; Q8N0V4; -.
DR PhosphoSitePlus; Q8N0V4; -.
DR BioMuta; LGI2; -.
DR DMDM; 32469740; -.
DR REPRODUCTION-2DPAGE; Q8N0V4; -.
DR jPOST; Q8N0V4; -.
DR MassIVE; Q8N0V4; -.
DR PaxDb; Q8N0V4; -.
DR PeptideAtlas; Q8N0V4; -.
DR PRIDE; Q8N0V4; -.
DR ProteomicsDB; 71467; -.
DR Antibodypedia; 2543; 151 antibodies from 31 providers.
DR DNASU; 55203; -.
DR Ensembl; ENST00000382114.9; ENSP00000371548.4; ENSG00000153012.12.
DR GeneID; 55203; -.
DR KEGG; hsa:55203; -.
DR MANE-Select; ENST00000382114.9; ENSP00000371548.4; NM_018176.4; NP_060646.2.
DR UCSC; uc003grf.3; human.
DR CTD; 55203; -.
DR DisGeNET; 55203; -.
DR GeneCards; LGI2; -.
DR HGNC; HGNC:18710; LGI2.
DR HPA; ENSG00000153012; Tissue enriched (parathyroid).
DR MIM; 608301; gene.
DR neXtProt; NX_Q8N0V4; -.
DR OpenTargets; ENSG00000153012; -.
DR PharmGKB; PA38654; -.
DR VEuPathDB; HostDB:ENSG00000153012; -.
DR eggNOG; ENOG502QR53; Eukaryota.
DR GeneTree; ENSGT00940000157294; -.
DR HOGENOM; CLU_036403_0_0_1; -.
DR InParanoid; Q8N0V4; -.
DR OMA; QDIEVTK; -.
DR OrthoDB; 365688at2759; -.
DR PhylomeDB; Q8N0V4; -.
DR TreeFam; TF333155; -.
DR PathwayCommons; Q8N0V4; -.
DR Reactome; R-HSA-5682910; LGI-ADAM interactions.
DR SignaLink; Q8N0V4; -.
DR BioGRID-ORCS; 55203; 11 hits in 1065 CRISPR screens.
DR ChiTaRS; LGI2; human.
DR GeneWiki; LGI2; -.
DR GenomeRNAi; 55203; -.
DR Pharos; Q8N0V4; Tbio.
DR PRO; PR:Q8N0V4; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q8N0V4; protein.
DR Bgee; ENSG00000153012; Expressed in smooth muscle tissue and 149 other tissues.
DR ExpressionAtlas; Q8N0V4; baseline and differential.
DR Genevisible; Q8N0V4; HS.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:1904862; P:inhibitory synapse assembly; ISS:UniProtKB.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR000483; Cys-rich_flank_reg_C.
DR InterPro; IPR009039; EAR.
DR InterPro; IPR005492; EPTP.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF03736; EPTP; 6.
DR Pfam; PF13855; LRR_8; 1.
DR SMART; SM00369; LRR_TYP; 3.
DR SMART; SM00082; LRRCT; 1.
DR PROSITE; PS50912; EAR; 7.
PE 2: Evidence at transcript level;
KW Glycoprotein; Leucine-rich repeat; Reference proteome; Repeat; Secreted;
KW Signal.
FT SIGNAL 1..28
FT /evidence="ECO:0000255"
FT CHAIN 29..545
FT /note="Leucine-rich repeat LGI family member 2"
FT /id="PRO_0000017708"
FT DOMAIN 29..65
FT /note="LRRNT"
FT REPEAT 86..107
FT /note="LRR 1"
FT REPEAT 110..131
FT /note="LRR 2"
FT REPEAT 134..155
FT /note="LRR 3"
FT DOMAIN 167..217
FT /note="LRRCT"
FT REPEAT 219..261
FT /note="EAR 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 265..307
FT /note="EAR 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 311..358
FT /note="EAR 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 360..403
FT /note="EAR 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 407..450
FT /note="EAR 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 452..494
FT /note="EAR 6"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT REPEAT 498..540
FT /note="EAR 7"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00075"
FT CARBOHYD 70
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 186
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 271
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 402
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VARIANT 444
FT /note="R -> Q (in dbSNP:rs2232026)"
FT /id="VAR_030536"
FT VARIANT 452
FT /note="Q -> R (in dbSNP:rs2232027)"
FT /id="VAR_030537"
FT CONFLICT 524
FT /note="F -> L (in Ref. 2; CAD32305 and 5; BAB67809)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 545 AA; 62298 MW; FD29B51F01B3D7E2 CRC64;
MALRRGGCGA LGLLLLLLGA ACLIPRSAQV RRLARCPATC SCTKESIICV GSSWVPRIVP
GDISSLSLVN GTFSEIKDRM FSHLPSLQLL LLNSNSFTII RDDAFAGLFH LEYLFIEGNK
IETISRNAFR GLRDLTHLSL ANNHIKALPR DVFSDLDSLI ELDLRGNKFE CDCKAKWLYL
WLKMTNSTVS DVLCIGPPEY QEKKLNDVTS FDYECTTTDF VVHQTLPYQS VSVDTFNSKN
DVYVAIAQPS MENCMVLEWD HIEMNFRSYD NITGQSIVGC KAILIDDQVF VVVAQLFGGS
HIYKYDESWT KFVKFQDIEV SRISKPNDIE LFQIDDETFF VIADSSKAGL STVYKWNSKG
FYSYQSLHEW FRDTDAEFVD IDGKSHLILS SRSQVPIILQ WNKSSKKFVP HGDIPNMEDV
LAVKSFRMQN TLYLSLTRFI GDSRVMRWNS KQFVEIQALP SRGAMTLQPF SFKDNHYLAL
GSDYTFSQIY QWDKEKQLFK KFKEIYVQAP RSFTAVSTDR RDFFFASSFK GKTKIFEHII
VDLSL
