ISLR2_HUMAN
ID ISLR2_HUMAN Reviewed; 745 AA.
AC Q6UXK2; A8K352; Q9P263;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Immunoglobulin superfamily containing leucine-rich repeat protein 2;
DE AltName: Full=Leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein;
DE Flags: Precursor;
GN Name=ISLR2; Synonyms=KIAA1465, LINX; ORFNames=UNQ1885/PRO4329;
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 [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=10819331; DOI=10.1093/dnares/7.2.143;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:143-150(2000).
RN [2]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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 [4]
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).
CC -!- FUNCTION: Required for axon extension during neural development.
CC {ECO:0000250}.
CC -!- SUBUNIT: Homomultimer. Interacts with NTRK1/TrkA (By similarity).
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q6UXK2; P54849: EMP1; NbExp=3; IntAct=EBI-1266923, EBI-4319440;
CC Q6UXK2; Q86VI4: LAPTM4B; NbExp=3; IntAct=EBI-1266923, EBI-3267258;
CC Q6UXK2; Q96G30: MRAP2; NbExp=3; IntAct=EBI-1266923, EBI-9537218;
CC Q6UXK2; Q16617: NKG7; NbExp=3; IntAct=EBI-1266923, EBI-3919611;
CC Q6UXK2; P0DN84: STRIT1; NbExp=3; IntAct=EBI-1266923, EBI-12200293;
CC Q6UXK2; O75841: UPK1B; NbExp=3; IntAct=EBI-1266923, EBI-12237619;
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass membrane
CC protein {ECO:0000250}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA95989.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB040898; BAA95989.2; ALT_INIT; mRNA.
DR EMBL; AY358316; AAQ88682.1; -; mRNA.
DR EMBL; AK290467; BAF83156.1; -; mRNA.
DR CCDS; CCDS10259.1; -.
DR RefSeq; NP_001123608.1; NM_001130136.1.
DR RefSeq; NP_001123609.1; NM_001130137.1.
DR RefSeq; NP_001123610.1; NM_001130138.1.
DR RefSeq; NP_065902.1; NM_020851.2.
DR RefSeq; XP_011520142.1; XM_011521840.2.
DR RefSeq; XP_011520143.1; XM_011521841.1.
DR AlphaFoldDB; Q6UXK2; -.
DR SMR; Q6UXK2; -.
DR BioGRID; 121658; 8.
DR CORUM; Q6UXK2; -.
DR IntAct; Q6UXK2; 7.
DR STRING; 9606.ENSP00000355402; -.
DR GlyGen; Q6UXK2; 6 sites.
DR iPTMnet; Q6UXK2; -.
DR PhosphoSitePlus; Q6UXK2; -.
DR BioMuta; ISLR2; -.
DR DMDM; 74758577; -.
DR MassIVE; Q6UXK2; -.
DR PaxDb; Q6UXK2; -.
DR PeptideAtlas; Q6UXK2; -.
DR PRIDE; Q6UXK2; -.
DR ProteomicsDB; 67633; -.
DR Antibodypedia; 26861; 84 antibodies from 20 providers.
DR DNASU; 57611; -.
DR Ensembl; ENST00000361742.7; ENSP00000355402.3; ENSG00000167178.17.
DR Ensembl; ENST00000435464.5; ENSP00000411443.1; ENSG00000167178.17.
DR Ensembl; ENST00000453268.3; ENSP00000411834.2; ENSG00000167178.17.
DR Ensembl; ENST00000565159.5; ENSP00000455531.1; ENSG00000167178.17.
DR Ensembl; ENST00000565540.1; ENSP00000458080.1; ENSG00000167178.17.
DR GeneID; 57611; -.
DR KEGG; hsa:57611; -.
DR MANE-Select; ENST00000453268.3; ENSP00000411834.2; NM_020851.3; NP_065902.1.
DR UCSC; uc002axd.3; human.
DR CTD; 57611; -.
DR DisGeNET; 57611; -.
DR GeneCards; ISLR2; -.
DR HGNC; HGNC:29286; ISLR2.
DR HPA; ENSG00000167178; Group enriched (brain, testis).
DR MIM; 614179; gene.
DR neXtProt; NX_Q6UXK2; -.
DR OpenTargets; ENSG00000167178; -.
DR PharmGKB; PA143485505; -.
DR VEuPathDB; HostDB:ENSG00000167178; -.
DR eggNOG; KOG0619; Eukaryota.
DR GeneTree; ENSGT00940000162846; -.
DR HOGENOM; CLU_400948_0_0_1; -.
DR InParanoid; Q6UXK2; -.
DR OMA; YSVCLTY; -.
DR OrthoDB; 282791at2759; -.
DR PhylomeDB; Q6UXK2; -.
DR TreeFam; TF351112; -.
DR PathwayCommons; Q6UXK2; -.
DR SignaLink; Q6UXK2; -.
DR BioGRID-ORCS; 57611; 15 hits in 1064 CRISPR screens.
DR ChiTaRS; ISLR2; human.
DR GenomeRNAi; 57611; -.
DR Pharos; Q6UXK2; Tbio.
DR PRO; PR:Q6UXK2; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q6UXK2; protein.
DR Bgee; ENSG00000167178; Expressed in cortical plate and 95 other tissues.
DR ExpressionAtlas; Q6UXK2; baseline and differential.
DR Genevisible; Q6UXK2; HS.
DR GO; GO:0009986; C:cell surface; ISS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0007399; P:nervous system development; IEA:UniProtKB-KW.
DR GO; GO:0045773; P:positive regulation of axon extension; ISS:UniProtKB.
DR Gene3D; 2.60.40.10; -; 1.
DR Gene3D; 3.80.10.10; -; 1.
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; IPR001611; Leu-rich_rpt.
DR InterPro; IPR003591; Leu-rich_rpt_typical-subtyp.
DR InterPro; IPR032675; LRR_dom_sf.
DR Pfam; PF13855; LRR_8; 2.
DR SMART; SM00369; LRR_TYP; 5.
DR SMART; SM00082; LRRCT; 1.
DR SUPFAM; SSF48726; SSF48726; 1.
DR PROSITE; PS50835; IG_LIKE; 1.
DR PROSITE; PS51450; LRR; 6.
PE 1: Evidence at protein level;
KW Cell membrane; Developmental protein; Disulfide bond; Glycoprotein;
KW Immunoglobulin domain; Leucine-rich repeat; Membrane; Neurogenesis;
KW Phosphoprotein; Reference proteome; Repeat; Signal; Transmembrane;
KW Transmembrane helix.
FT SIGNAL 1..18
FT /evidence="ECO:0000255"
FT CHAIN 19..745
FT /note="Immunoglobulin superfamily containing leucine-rich
FT repeat protein 2"
FT /id="PRO_0000317498"
FT TOPO_DOM 19..589
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 590..610
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 611..745
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 19..51
FT /note="LRRNT"
FT REPEAT 52..73
FT /note="LRR 1"
FT REPEAT 76..97
FT /note="LRR 2"
FT REPEAT 100..123
FT /note="LRR 3"
FT REPEAT 124..145
FT /note="LRR 4"
FT REPEAT 148..169
FT /note="LRR 5"
FT DOMAIN 181..232
FT /note="LRRCT"
FT DOMAIN 233..371
FT /note="Ig-like"
FT REGION 287..326
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 375..466
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 656..722
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 432..450
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 668..684
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 698..713
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 719
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:Q5RKR3"
FT MOD_RES 720
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5RKR3"
FT CARBOHYD 52
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 121
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 337
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 364
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 474
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 563
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 260..355
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00114"
FT VARIANT 137
FT /note="S -> F (in dbSNP:rs3889598)"
FT /id="VAR_049881"
FT CONFLICT 19
FT /note="S -> P (in Ref. 4; BAF83156)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 745 AA; 78990 MW; 7188FC3003EC2B7E CRC64;
MFPLRALWLV WALLGVAGSC PEPCACVDKY AHQFADCAYK ELREVPEGLP ANVTTLSLSA
NKITVLRRGA FADVTQVTSL WLAHNEVRTV EPGALAVLSQ LKNLDLSHNF ISSFPWSDLR
NLSALQLLKM NHNRLGSLPR DALGALPDLR SLRINNNRLR TLAPGTFDAL SALSHLQLYH
NPFHCGCGLV WLQAWAASTR VSLPEPDSIA CASPPALQGV PVYRLPALPC APPSVHLSAE
PPLEAPGTPL RAGLAFVLHC IADGHPTPRL QWQLQIPGGT VVLEPPVLSG EDDGVGAEEG
EGEGDGDLLT QTQAQTPTPA PAWPAPPATP RFLALANGSL LVPLLSAKEA GVYTCRAHNE
LGANSTSIRV AVAATGPPKH APGAGGEPDG QAPTSERKST AKGRGNSVLP SKPEGKIKGQ
GLAKVSILGE TETEPEEDTS EGEEAEDQIL ADPAEEQRCG NGDPSRYVSN HAFNQSAELK
PHVFELGVIA LDVAEREARV QLTPLAARWG PGPGGAGGAP RPGRRPLRLL YLCPAGGGAA
VQWSRVEEGV NAYWFRGLRP GTNYSVCLAL AGEACHVQVV FSTKKELPSL LVIVAVSVFL
LVLATVPLLG AACCHLLAKH PGKPYRLILR PQAPDPMEKR IAADFDPRAS YLESEKSYPA
GGEAGGEEPE DVQGEGLDED AEQGDPSGDL QREESLAACS LVESQSKANQ EEFEAGSEYS
DRLPLGAEAV NIAQEINGNY RQTAG
