ID LRIT2_HUMAN Reviewed; 550 AA. AC A6NDA9; B7ZME6; DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot. DT 24-JUL-2007, sequence version 1. DT 13-FEB-2019, entry version 108. DE RecName: Full=Leucine-rich repeat, immunoglobulin-like domain and transmembrane domain-containing protein 2; DE AltName: Full=Leucine-rich repeat-containing protein 22; DE Flags: Precursor; GN Name=LRIT2; Synonyms=LRRC22; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Retina; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15164054; DOI=10.1038/nature02462; RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P., RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., RA Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., RA Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., RA Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., RA Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., RA Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., RA Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., RA Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., RA Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., RA Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., RA Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., RA Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., RA Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., RA Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., RA Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., RA Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., RA Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., RA Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., RA Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., RA Doucette-Stamm L., Beck S., Smith D.R., Rogers J.; RT "The DNA sequence and comparative analysis of human chromosome 10."; RL Nature 429:375-381(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). 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 RT project: the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane CC protein. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=A6NDA9-1; Sequence=Displayed; CC Name=2; CC IsoId=A6NDA9-2; Sequence=VSP_054539; CC Note=No experimental confirmation available.; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; BX648524; -; NOT_ANNOTATED_CDS; mRNA. DR EMBL; AC022389; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC140765; AAI40766.1; -; mRNA. DR EMBL; BC144475; AAI44476.1; -; mRNA. DR CCDS; CCDS31234.1; -. [A6NDA9-1] DR CCDS; CCDS60581.1; -. [A6NDA9-2] DR RefSeq; NP_001017924.1; NM_001017924.3. [A6NDA9-1] DR RefSeq; NP_001271152.1; NM_001284223.1. [A6NDA9-2] DR UniGene; Hs.450425; -. DR ProteinModelPortal; A6NDA9; -. DR STRING; 9606.ENSP00000361185; -. DR iPTMnet; A6NDA9; -. DR PhosphoSitePlus; A6NDA9; -. DR BioMuta; LRIT2; -. DR jPOST; A6NDA9; -. DR MaxQB; A6NDA9; -. DR PaxDb; A6NDA9; -. DR PRIDE; A6NDA9; -. DR ProteomicsDB; 897; -. DR Ensembl; ENST00000372113; ENSP00000361185; ENSG00000204033. [A6NDA9-1] DR Ensembl; ENST00000538192; ENSP00000438264; ENSG00000204033. [A6NDA9-2] DR GeneID; 340745; -. DR KEGG; hsa:340745; -. DR UCSC; uc001kcy.5; human. [A6NDA9-1] DR CTD; 340745; -. DR DisGeNET; 340745; -. DR EuPathDB; HostDB:ENSG00000204033.9; -. DR GeneCards; LRIT2; -. DR HGNC; HGNC:23443; LRIT2. DR HPA; HPA037788; -. DR neXtProt; NX_A6NDA9; -. DR OpenTargets; ENSG00000204033; -. DR PharmGKB; PA162394344; -. DR eggNOG; KOG0619; Eukaryota. DR eggNOG; COG4886; LUCA. DR GeneTree; ENSGT00940000159143; -. DR HOGENOM; HOG000082676; -. DR HOVERGEN; HBG060406; -. DR InParanoid; A6NDA9; -. DR OMA; QCVVFVT; -. DR OrthoDB; 770995at2759; -. DR PhylomeDB; A6NDA9; -. DR TreeFam; TF330861; -. DR GenomeRNAi; 340745; -. DR PRO; PR:A6NDA9; -. DR Proteomes; UP000005640; Chromosome 10. DR Bgee; ENSG00000204033; Expressed in 30 organ(s), highest expression level in mucosa of transverse colon. DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW. DR CDD; cd00063; FN3; 1. DR Gene3D; 2.60.40.10; -; 1. DR Gene3D; 3.80.10.10; -; 1. DR InterPro; IPR000483; Cys-rich_flank_reg_C. DR InterPro; IPR003961; FN3_dom. DR InterPro; IPR007110; Ig-like_dom. DR InterPro; IPR036179; Ig-like_dom_sf. DR InterPro; IPR013783; Ig-like_fold. 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 InterPro; IPR020901; Prtase_inh_Kunz-CS. DR Pfam; PF13855; LRR_8; 1. DR SMART; SM00409; IG; 1. DR SMART; SM00408; IGc2; 1. DR SMART; SM00369; LRR_TYP; 4. DR SMART; SM00082; LRRCT; 1. DR SUPFAM; SSF48726; SSF48726; 1. DR PROSITE; PS50835; IG_LIKE; 1. DR PROSITE; PS51450; LRR; 4. PE 2: Evidence at transcript level; KW Alternative splicing; Complete proteome; Disulfide bond; Glycoprotein; KW Immunoglobulin domain; Leucine-rich repeat; Membrane; Polymorphism; KW Reference proteome; Repeat; Signal; Transmembrane; KW Transmembrane helix. FT SIGNAL 1 19 {ECO:0000255}. FT CHAIN 20 550 Leucine-rich repeat, immunoglobulin-like FT domain and transmembrane domain- FT containing protein 2. FT /FTId=PRO_0000309344. FT TRANSMEM 466 486 Helical. {ECO:0000255}. FT DOMAIN 23 54 LRRNT. FT REPEAT 80 103 LRR 1. FT REPEAT 104 125 LRR 2. FT REPEAT 128 149 LRR 3. FT REPEAT 152 173 LRR 4. FT DOMAIN 200 252 LRRCT. FT DOMAIN 253 341 Ig-like. FT DOMAIN 361 451 Fibronectin type-III. FT CARBOHYD 52 52 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT DISULFID 274 327 {ECO:0000255|PROSITE-ProRule:PRU00114}. FT VAR_SEQ 297 297 D -> DGLLGGKHLTP (in isoform 2). FT {ECO:0000303|PubMed:15489334}. FT /FTId=VSP_054539. FT VARIANT 28 28 C -> Y (in dbSNP:rs12773843). FT /FTId=VAR_036935. FT VARIANT 179 179 K -> N (in dbSNP:rs11200927). FT /FTId=VAR_036936. FT VARIANT 220 220 L -> F (in dbSNP:rs11200925). FT /FTId=VAR_036937. FT VARIANT 496 496 V -> A (in dbSNP:rs12217769). FT /FTId=VAR_036938. FT VARIANT 510 510 T -> P (in dbSNP:rs6585847). FT /FTId=VAR_036939. SQ SEQUENCE 550 AA; 60168 MW; F9891BB309EDD630 CRC64; MASVFHYFLL VLVFLDTHAA QPFCLPGCTC SEESFGRTLQ CTSVSLGKIP GNLSEEFKQV RIENSPLFEM PQGSFINMST LEYLWLNFNN ISVIHLGALE HLPELRELRL EGNKLCSVPW TAFRATPLLR VLDLKRNKID ALPELALQFL VSLTYLDLSS NRLTVVSKSV FLNWPAYQKC RQPDCGAEIL SSLVVALHDN PWVCDCRLRG LVQFVKSITL PVILVNSYLI CQGPLSKAGQ LFHETELSAC MKPQISTPSA NITIRAGQNV TLRCLAQASP SPSIAWTYPL SMWREFDVLT SSTGEDTALS ELAIPAAHLV DSGNYTCMAS NSIGKSNLVI SLHVQPAQAL HAPDSLSIPS EGNAYIDLRV VKQTVHGILL EWLAVADTSK EEWFTLYIAS DEAFRKEVVH IGPGINTYAV DDLLPGTKYE ACLSLEGQPP HQGQCVAFVT GRDAGGLEAR EHLLHVTVVL CVVLLAVPVG AYAWAAQGPC SCSKWVLRGC LHRRKAPSCT PAAPQSKDGS FREHPAVCDD GEGHIDTEGD KEKGGTEDNS //