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O94898 (LRIG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 117. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Leucine-rich repeats and immunoglobulin-like domains protein 2

Short name=LIG-2
Gene names
Name:LRIG2
Synonyms:KIAA0806, LIG2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1065 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Cell membrane; Single-pass type I membrane protein. Cytoplasm Ref.3.

Tissue specificity

Detected in all tissues analyzed. Ref.3

Involvement in disease

Urofacial syndrome 2 (UFS2) [MIM:615112]: A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Contains 3 Ig-like C2-type (immunoglobulin-like) domains.

Contains 15 LRR (leucine-rich) repeats.

Contains 1 LRRCT domain.

Contains 1 LRRNT domain.

Sequence caution

The sequence BAA34526.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 4040 Potential
Chain41 – 10651025Leucine-rich repeats and immunoglobulin-like domains protein 2
PRO_0000014829

Regions

Topological domain41 – 807767Extracellular Potential
Transmembrane808 – 82821Helical; Potential
Topological domain829 – 1065237Cytoplasmic Potential
Domain41 – 7535LRRNT
Repeat76 – 9722LRR 1
Repeat98 – 11922LRR 2
Repeat121 – 14222LRR 3
Repeat145 – 16622LRR 4
Repeat168 – 18922LRR 5
Repeat193 – 21422LRR 6
Repeat216 – 23722LRR 7
Repeat240 – 26122LRR 8
Repeat264 – 28522LRR 9
Repeat288 – 30922LRR 10
Repeat312 – 33322LRR 11
Repeat336 – 35722LRR 12
Repeat360 – 38223LRR 13
Repeat387 – 40822LRR 14
Repeat411 – 43222LRR 15
Domain443 – 49452LRRCT
Domain498 – 597100Ig-like C2-type 1
Domain602 – 69190Ig-like C2-type 2
Domain696 – 78590Ig-like C2-type 3

Amino acid modifications

Modified residue9061Phosphotyrosine By similarity
Glycosylation911N-linked (GlcNAc...) Potential
Glycosylation1211N-linked (GlcNAc...) Potential
Glycosylation1731N-linked (GlcNAc...) Potential
Glycosylation1891N-linked (GlcNAc...) Potential
Glycosylation2741N-linked (GlcNAc...) Potential
Glycosylation4411N-linked (GlcNAc...) Potential
Glycosylation4681N-linked (GlcNAc...) Potential
Glycosylation5141N-linked (GlcNAc...) Potential
Glycosylation5711N-linked (GlcNAc...) Potential
Glycosylation5891N-linked (GlcNAc...) Potential
Glycosylation6871N-linked (GlcNAc...) Potential
Glycosylation7281N-linked (GlcNAc...) Potential
Disulfide bond519 ↔ 580 By similarity
Disulfide bond623 ↔ 675 By similarity
Disulfide bond717 ↔ 766 By similarity

Sequences

Sequence LengthMass (Da)Tools
O94898 [UniParc].

Last modified October 11, 2004. Version 3.
Checksum: CD2903A861DC4887

FASTA1,065118,965
        10         20         30         40         50         60 
MAPAPLGVPE EQLLGCRSRV LSRLLFIAQT ALLLLPAAGA GLCPAPCSCR IPLLDCSRRK 

        70         80         90        100        110        120 
LPAPSWRALS GLLPPDTAIL DFSHNRLSNW NISLESQTLQ EVKMNYNELT EIPYFGEPTS 

       130        140        150        160        170        180 
NITLLSLVHN IIPEINAQAL QFYPALESLD LSSNIISEIK TSSFPRMQLK YLNLSNNRIT 

       190        200        210        220        230        240 
TLEAGCFDNL SSSLLVVKLN RNRMSMIPPK IFKLPHLQFL ELKRNRIKIV EGLTFQGLDS 

       250        260        270        280        290        300 
LRSLKMQRNG ISKLKDGAFF GLNNMEELEL EHNNLTRVNK GWLYGLRMLQ QLYVSQNAIE 

       310        320        330        340        350        360 
RISPDAWEFC QRLSELDLSY NQLTRLDESA FVGLSLLERL NLGDNRVTHI ADGVFRFLSN 

       370        380        390        400        410        420 
LQTLDLRNNE ISWAIEDASE AFAGLTSLTK LILQGNQIKS ITKKAFIGLE SLEHLDLNNN 

       430        440        450        460        470        480 
AIMSIQENAF SQTHLKELIL NTSSLLCDCH LKWLLQWLVD NNFQHSVNVS CAHPEWLAGQ 

       490        500        510        520        530        540 
SILNVDLKDF VCDDFLKPQI RTHPETIIAL RGMNVTLTCT AVSSSDSPMS TVWRKDSEIL 

       550        560        570        580        590        600 
YDVDTENFVR YWQQAGEALE YTSILHLFNV NFTDEGKYQC IVTNHFGSNY SQKAKLTVNE 

       610        620        630        640        650        660 
MPSFLKTPMD LTIRTGAMAR LECAAEGHPA PQISWQKDGG TDFPAARERR MHVMPEDDVF 

       670        680        690        700        710        720 
FIANVKIEDM GIYSCMAQNT AGGLSANASL TVLETPSFIR PLEDKTVTRG ETAVLQCIAG 

       730        740        750        760        770        780 
GSPAPRLNWT KDDGPLLVTE RHFFAAANQL LIIVDAGLED AGKYTCIMSN TLGTERGHIY 

       790        800        810        820        830        840 
LNVISSPNCD SSQSSIGHED DGWTTVGIVI IVVVCCVVGT SLIWVIVIYH MRRKNEDYSI 

       850        860        870        880        890        900 
TNTEELNLPA DIPSYLSSQG TLSEPQEGYS NSEAGSHQQL MPPANGYIHK GTDGGTGTRV 

       910        920        930        940        950        960 
ICSDCYDNAN IYSRTREYCP YTYIAEEDVL DQTLSSLMVQ MPKETYLVHP PQDTTALESL 

       970        980        990       1000       1010       1020 
IPSANREPSA FPTNHERISE KKLPSTQMSG ETLQRPVWNI NRELGLPHPP FSQQPVHESP 

      1030       1040       1050       1060 
QLHQNEGLAG REPDCSASSM SCHRLQDHAF DFSRTRNIQD GSEGT 

« Hide

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-133.
Tissue: Brain.
[3]"Characterization and tissue-specific expression of human LRIG2."
Holmlund C., Nilsson J., Guo D., Starefeldt A., Golovleva I., Henriksson R., Hedman H.
Gene 332:35-43(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[4]"LRIG2 mutations cause urofacial syndrome."
Stuart H.M., Roberts N.A., Burgu B., Daly S.B., Urquhart J.E., Bhaskar S., Dickerson J.E., Mermerkaya M., Silay M.S., Lewis M.A., Olondriz M.B., Gener B., Beetz C., Varga R.E., Guelpinar O., Sueer E., Soyguer T., Ozcakar Z.B. expand/collapse author list , Yalcinkaya F., Kavaz A., Bulum B., Guecuek A., Yue W.W., Erdogan F., Berry A., Hanley N.A., McKenzie E.A., Hilton E.N., Woolf A.S., Newman W.G.
Am. J. Hum. Genet. 92:259-264(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN UFS2.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB018349 mRNA. Translation: BAA34526.2. Different initiation.
AL161998 mRNA. Translation: CAB82328.2.
CCDSCCDS30808.1.
PIRT47152.
RefSeqNP_055628.1. NM_014813.1.
UniGeneHs.448972.
Hs.729143.

3D structure databases

ProteinModelPortalO94898.
SMRO94898. Positions 34-883.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115194. 1 interaction.
IntActO94898. 1 interaction.
STRING9606.ENSP00000355396.

PTM databases

PhosphoSiteO94898.

Proteomic databases

MaxQBO94898.
PaxDbO94898.
PRIDEO94898.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361127; ENSP00000355396; ENSG00000198799.
GeneID9860.
KEGGhsa:9860.
UCSCuc001edf.1. human.

Organism-specific databases

CTD9860.
GeneCardsGC01P113615.
GeneReviewsLRIG2.
HGNCHGNC:20889. LRIG2.
HPAHPA015538.
MIM608869. gene.
615112. phenotype.
neXtProtNX_O94898.
Orphanet2704. Ochoa syndrome.
PharmGKBPA134905053.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG4886.
HOGENOMHOG000113380.
HOVERGENHBG052353.
InParanoidO94898.
OMAFPTNHER.
OrthoDBEOG7DNNTD.
PhylomeDBO94898.
TreeFamTF325380.

Gene expression databases

BgeeO94898.
CleanExHS_LRIG2.
GenevestigatorO94898.

Family and domain databases

Gene3D2.60.40.10. 3 hits.
InterProIPR000483. Cys-rich_flank_reg_C.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
[Graphical view]
PfamPF07679. I-set. 2 hits.
PF00560. LRR_1. 1 hit.
PF13855. LRR_8. 3 hits.
[Graphical view]
SMARTSM00409. IG. 1 hit.
SM00408. IGc2. 2 hits.
SM00369. LRR_TYP. 3 hits.
SM00082. LRRCT. 1 hit.
[Graphical view]
PROSITEPS50835. IG_LIKE. 3 hits.
PS51450. LRR. 14 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi9860.
NextBio37168.
PROO94898.
SOURCESearch...

Entry information

Entry nameLRIG2_HUMAN
AccessionPrimary (citable) accession number: O94898
Secondary accession number(s): Q9NSN2
Entry history
Integrated into UniProtKB/Swiss-Prot: October 11, 2004
Last sequence update: October 11, 2004
Last modified: July 9, 2014
This is version 117 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM