LRRN2_HUMAN
ID LRRN2_HUMAN Reviewed; 713 AA.
AC O75325; B2R624; Q5T0Y0; Q6UXM0; Q8N182;
DT 11-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 15-MAR-2005, sequence version 2.
DT 03-AUG-2022, entry version 189.
DE RecName: Full=Leucine-rich repeat neuronal protein 2;
DE AltName: Full=Glioma amplified on chromosome 1 protein;
DE AltName: Full=Leucine-rich repeat neuronal protein 5;
DE Flags: Precursor;
GN Name=LRRN2; Synonyms=GAC1, LRRN5; ORFNames=UNQ256/PRO293;
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].
RC TISSUE=Glial tumor;
RX PubMed=9662332; DOI=10.1038/sj.onc.1201828;
RA Malfoy B., Almeida A., Zhu X.X., Vogt N., Tyagi R., Muleris M.,
RA Dutrillaux A.-M., Dutrillaux B., Ross D., Hanash S.;
RT "GAC1, a new member of the leucine-rich repeat superfamily on chromosome
RT band 1q32.1, is amplified and overexpressed in malignant gliomas.";
RL Oncogene 16:2997-3002(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT THR-19.
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
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).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I
CC membrane protein {ECO:0000305}.
CC -!- TISSUE SPECIFICITY: Overamplified in malignant gliomas.
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DR EMBL; AF030435; AAC39792.1; -; mRNA.
DR EMBL; AY358290; AAQ88657.1; -; mRNA.
DR EMBL; AK312408; BAG35321.1; -; mRNA.
DR EMBL; AL512306; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471067; EAW91520.1; -; Genomic_DNA.
DR EMBL; BC034047; AAH34047.1; -; mRNA.
DR EMBL; BC068541; AAH68541.1; -; mRNA.
DR CCDS; CCDS1448.1; -.
DR RefSeq; NP_006329.2; NM_006338.2.
DR RefSeq; NP_963924.1; NM_201630.1.
DR RefSeq; XP_005244884.1; XM_005244827.3.
DR RefSeq; XP_011507368.1; XM_011509066.2.
DR RefSeq; XP_016855539.1; XM_017000050.1.
DR AlphaFoldDB; O75325; -.
DR SMR; O75325; -.
DR BioGRID; 115711; 51.
DR IntAct; O75325; 19.
DR STRING; 9606.ENSP00000356143; -.
DR GlyGen; O75325; 4 sites.
DR iPTMnet; O75325; -.
DR PhosphoSitePlus; O75325; -.
DR BioMuta; LRRN2; -.
DR MassIVE; O75325; -.
DR MaxQB; O75325; -.
DR PaxDb; O75325; -.
DR PeptideAtlas; O75325; -.
DR PRIDE; O75325; -.
DR ProteomicsDB; 49895; -.
DR Antibodypedia; 34560; 117 antibodies from 21 providers.
DR DNASU; 10446; -.
DR Ensembl; ENST00000367175.1; ENSP00000356143.1; ENSG00000170382.12.
DR Ensembl; ENST00000367176.7; ENSP00000356144.3; ENSG00000170382.12.
DR Ensembl; ENST00000367177.4; ENSP00000356145.3; ENSG00000170382.12.
DR GeneID; 10446; -.
DR KEGG; hsa:10446; -.
DR MANE-Select; ENST00000367177.4; ENSP00000356145.3; NM_201630.2; NP_963924.1.
DR UCSC; uc001hbe.3; human.
DR CTD; 10446; -.
DR DisGeNET; 10446; -.
DR GeneCards; LRRN2; -.
DR HGNC; HGNC:16914; LRRN2.
DR HPA; ENSG00000170382; Tissue enhanced (brain).
DR MIM; 605492; gene.
DR neXtProt; NX_O75325; -.
DR OpenTargets; ENSG00000170382; -.
DR PharmGKB; PA162394661; -.
DR VEuPathDB; HostDB:ENSG00000170382; -.
DR eggNOG; KOG0619; Eukaryota.
DR GeneTree; ENSGT00940000161204; -.
DR HOGENOM; CLU_000288_18_18_1; -.
DR InParanoid; O75325; -.
DR OMA; FTNMLHL; -.
DR OrthoDB; 998247at2759; -.
DR PhylomeDB; O75325; -.
DR TreeFam; TF334360; -.
DR PathwayCommons; O75325; -.
DR SignaLink; O75325; -.
DR BioGRID-ORCS; 10446; 10 hits in 1067 CRISPR screens.
DR GeneWiki; LRRN2; -.
DR GenomeRNAi; 10446; -.
DR Pharos; O75325; Tdark.
DR PRO; PR:O75325; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; O75325; protein.
DR Bgee; ENSG00000170382; Expressed in prefrontal cortex and 127 other tissues.
DR ExpressionAtlas; O75325; baseline and differential.
DR Genevisible; O75325; HS.
DR GO; GO:0031012; C:extracellular matrix; IBA:GO_Central.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0038023; F:signaling receptor activity; TAS:ProtInc.
DR GO; GO:0007155; P:cell adhesion; TAS:ProtInc.
DR GO; GO:0007165; P:signal transduction; TAS:ProtInc.
DR Gene3D; 2.60.40.10; -; 1.
DR Gene3D; 3.80.10.10; -; 2.
DR InterPro; IPR000483; Cys-rich_flank_reg_C.
DR InterPro; IPR007110; Ig-like_dom.
DR InterPro; IPR036179; Ig-like_dom_sf.
DR InterPro; IPR013783; Ig-like_fold.
DR InterPro; IPR013098; Ig_I-set.
DR InterPro; IPR003599; Ig_sub.
DR InterPro; IPR003598; Ig_sub2.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF07679; I-set; 1.
DR Pfam; PF13855; LRR_8; 3.
DR SMART; SM00409; IG; 1.
DR SMART; SM00408; IGc2; 1.
DR SMART; SM00369; LRR_TYP; 10.
DR SMART; SM00082; LRRCT; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
DR PROSITE; PS51450; LRR; 9.
PE 2: Evidence at transcript level;
KW Disulfide bond; Glycoprotein; Immunoglobulin domain; Leucine-rich repeat;
KW Membrane; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..18
FT /evidence="ECO:0000255"
FT CHAIN 19..713
FT /note="Leucine-rich repeat neuronal protein 2"
FT /id="PRO_0000014849"
FT TOPO_DOM 19..630
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 631..651
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 652..713
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 20..69
FT /note="LRRNT"
FT REPEAT 70..91
FT /note="LRR 1"
FT REPEAT 94..115
FT /note="LRR 2"
FT REPEAT 118..139
FT /note="LRR 3"
FT REPEAT 142..163
FT /note="LRR 4"
FT REPEAT 166..187
FT /note="LRR 5"
FT REPEAT 190..211
FT /note="LRR 6"
FT REPEAT 214..235
FT /note="LRR 7"
FT REPEAT 238..259
FT /note="LRR 8"
FT REPEAT 262..283
FT /note="LRR 9"
FT REPEAT 286..305
FT /note="LRR 10"
FT REPEAT 311..333
FT /note="LRR 11"
FT REPEAT 336..357
FT /note="LRR 12"
FT DOMAIN 369..422
FT /note="LRRCT"
FT DOMAIN 422..511
FT /note="Ig-like C2-type"
FT CARBOHYD 94
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 381
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 555
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 583
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 445..497
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VARIANT 7
FT /note="P -> L (in dbSNP:rs3789044)"
FT /id="VAR_021921"
FT VARIANT 19
FT /note="A -> T (in dbSNP:rs36012907)"
FT /evidence="ECO:0000269|PubMed:12975309"
FT /id="VAR_049898"
FT VARIANT 518
FT /note="L -> V (in dbSNP:rs3747631)"
FT /id="VAR_021922"
FT VARIANT 659
FT /note="V -> A (in dbSNP:rs34771052)"
FT /id="VAR_049899"
FT VARIANT 692
FT /note="P -> S (in dbSNP:rs11588857)"
FT /id="VAR_049900"
FT CONFLICT 355
FT /note="V -> A (in Ref. 6; AAH34047/AAH68541)"
FT /evidence="ECO:0000305"
FT CONFLICT 474
FT /note="Y -> C (in Ref. 1; AAC39792)"
FT /evidence="ECO:0000305"
FT CONFLICT 676
FT /note="A -> P (in Ref. 6; AAH34047/AAH68541)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 713 AA; 78859 MW; 8B97B131FF61254A CRC64;
MRLLVAPLLL AWVAGATAAV PVVPWHVPCP PQCACQIRPW YTPRSSYREA TTVDCNDLFL
TAVPPALPAG TQTLLLQSNS IVRVDQSELG YLANLTELDL SQNSFSDARD CDFHALPQLL
SLHLEENQLT RLEDHSFAGL ASLQELYLNH NQLYRIAPRA FSGLSNLLRL HLNSNLLRAI
DSRWFEMLPN LEILMIGGNK VDAILDMNFR PLANLRSLVL AGMNLREISD YALEGLQSLE
SLSFYDNQLA RVPRRALEQV PGLKFLDLNK NPLQRVGPGD FANMLHLKEL GLNNMEELVS
IDKFALVNLP ELTKLDITNN PRLSFIHPRA FHHLPQMETL MLNNNALSAL HQQTVESLPN
LQEVGLHGNP IRCDCVIRWA NATGTRVRFI EPQSTLCAEP PDLQRLPVRE VPFREMTDHC
LPLISPRSFP PSLQVASGES MVLHCRALAE PEPEIYWVTP AGLRLTPAHA GRRYRVYPEG
TLELRRVTAE EAGLYTCVAQ NLVGADTKTV SVVVGRALLQ PGRDEGQGLE LRVQETHPYH
ILLSWVTPPN TVSTNLTWSS ASSLRGQGAT ALARLPRGTH SYNITRLLQA TEYWACLQVA
FADAHTQLAC VWARTKEATS CHRALGDRPG LIAILALAVL LLAAGLAAHL GTGQPRKGVG
GRRPLPPAWA FWGWSAPSVR VVSAPLVLPW NPGRKLPRSS EGETLLPPLS QNS
