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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ISLR2 Gene

protein-coding   GIFtS: 48
GCID: GC15P074421

immunoglobulin superfamily containing leucine-rich repeat...

 Explore 1 disease affiliated with
ISLR2 via our new
 Human Malady Compendium 
Biological research products
for ISLR2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Immunoglobulin Superfamily Containing Leucine-Rich Repeat 21 2
KIAA14651 3
Leucine-Rich Repeat Domain And Immunoglobulin Domain-Containing Axon Extension
Protein2 3
LINX2 3
Immunoglobulin Superfamily Containing Leucine-Rich Repeat Protein 22

External Ids:    HGNC: 292861   Entrez Gene: 576112   Ensembl: ENSG000001671787   OMIM: 6141795   UniProtKB: Q6UXK23   

Export aliases for ISLR2 gene to outside databases

Previous GC identifers: GC15P072209 GC15P051215


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: ISLR2_HUMAN, Q6UXK2
Function: Required for axon extension during neural development (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ISLR2 gene promoter:
         FOXI1   HFH-3   AP-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidISLR2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ISLR2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ISLR2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q24.1   Ensembl cytogenetic band:  15q24.1   HGNC cytogenetic band: 15q24.1

ISLR2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ISLR2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P074421:  view genomic region     (about GC identifiers)

Start:
74,392,652 bp from pter      End:
74,430,881 bp from pter
Size:
38,230 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ISLR2_HUMAN, Q6UXK2 (See protein sequence)
Recommended Name: Immunoglobulin superfamily containing leucine-rich repeat protein 2 precursor  
Size: 745 amino acids; 78990 Da
Subunit: Homomultimer. Interacts with NTRK1/TrkA (By similarity)
Subcellular location: Cell membrane; Single-pass membrane protein (By similarity)
Sequence caution: Sequence=BAA95989.2; Type=Erroneous initiation;
Secondary accessions: A8K352 Q9P263

Explore the universe of human proteins at neXtProt for ISLR2: NX_Q6UXK2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6UXK2

  • ISLR2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001123608.1  NP_001123609.1  NP_001123610.1  NP_065902.1  

    ENSEMBL proteins: 
     ENSP00000454287   ENSP00000355402   ENSP00000455531   ENSP00000454859   ENSP00000455076  
     ENSP00000411834   ENSP00000454259   ENSP00000458080   ENSP00000403244   ENSP00000411443  
     ENSP00000408872  

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    Uscn Proteins for ISLR2

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0009986cell surface ISS--
    GO:0016021integral to membrane IEA--


    ISLR2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ISLR2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ISLR2 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR007110 Ig-like_dom
     IPR000483 Cys-rich_flank_reg_C
     IPR000372 LRR-contain_N
     IPR003599 Ig_sub
     IPR001611 Leu-rich_rpt

    Graphical View of Domain Structure for InterPro Entry Q6UXK2

    ProtoNet protein and cluster: Q6UXK2

    3 Blocks protein families:
    IPB000372 Cysteine-rich flanking region
    IPB000483 Cysteine-rich flanking region
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: ISLR2_HUMAN, Q6UXK2
    Similarity: Contains 1 Ig-like (immunoglobulin-like) domain
    Similarity: Contains 5 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRCT domain
    Similarity: Contains 1 LRRNT domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ISLR2_HUMAN, Q6UXK2
    Function: Required for axon extension during neural development (By similarity)

    miRNA
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    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate ISLR2 (see all 15):
    hsa-miR-3671 hsa-miR-607 hsa-miR-3152-3p hsa-miR-3194-5p hsa-miR-1197 hsa-miR-191* hsa-miR-29a hsa-miR-29c
    SwitchGear 3'UTR luciferase reporter plasmidISLR2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISLR2

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----


    ISLR2 for ontologies           About GeneDecksing


    Animal Models:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Islr2):
     behavior/neurological  mortality/aging  nervous system 

    ISLR2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ISLR2

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045773positive regulation of axon extension ISS--


    ISLR2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ISLR2
    Search CenterWatch for drugs/clinical trials and news about ISLR2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ISLR2 gene (4 alternative transcripts): 
    NM_001130136.1  NM_001130137.1  NM_001130138.1  NM_020851.2  

    Unigene Cluster for ISLR2:

    Immunoglobulin superfamily containing leucine-rich repeat 2
    Hs.254775  [show with all ESTs]
    Unigene Representative Sequence: BC152429
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000561975 ENST00000569886 ENST00000361742(uc002axd.3 uc002axe.3 uc010bjf.3)
    ENST00000565068 ENST00000565159 ENST00000567206 ENST00000561740 ENST00000453268
    ENST00000565332 ENST00000565540 ENST00000445793 ENST00000435464(uc010bjg.3)
    ENST00000419208

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    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate ISLR2 (see all 15):
    hsa-miR-3671 hsa-miR-607 hsa-miR-3152-3p hsa-miR-3194-5p hsa-miR-1197 hsa-miR-191* hsa-miR-29a hsa-miR-29c
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB040898.2 AK092297.1 AK092302.1 AK290467.1 AK309388.1 AY358316.1 BC028042.1 BC114551.1 
    BC152429.1 

    7 DOTS entries:

    DT.100742761  DT.95111309  DT.100016851  DT.121079860  DT.100836032  DT.121079867  DT.121079864 

    24/32 AceView cDNA sequences (see all 32):

    AX747460 BX442047 AX747465 BI917487 AK092302 BC028042 AB040898 BI914695 
    NM_020851 AK092297 AY358316 AW007241 BM839809 BM841956 BX095860 BX441838 
    BX452285 BM727467 BM011358 AK096602 AL134441 BX461894 R19055 BU852293 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ISLR2 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d · 6e
    SP1:        -     -     -     -     -     -                       -                                 
    SP2:                          -     -     -                       -                                 
    SP3:                                -     -                       -                                 
    SP4:                                      -                                                         
    SP5:                                                              -                                 


    ECgene alternative splicing isoforms for ISLR2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ISLR2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAAGACTCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ISLR2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainHypothalamusBrain
    BrainThalamusBrain
    Neural TubeDiencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)
    Ventral/hypothalamic-like neurons (Generation of midbra...)

    See ISLR2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ISLR2

    SOURCE GeneReport for Unigene cluster: Hs.254775
        SABiosciences Custom PCR Arrays for ISLR2
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ISLR2 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ISLR21 immunoglobulin superfamily containing leucine-rich more 63.41(n)
    57.23(a)
      429941  NM_001044667.1  NP_001038132.1 
    zebrafish
    (Danio rerio)
    Actinopterygii islr21 immunoglobulin superfamily containing leucine-rich more 54.62(n)
    51.77(a)
      541396  NM_001013523.1  NP_001013541.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta kek46
    kek66
    (see all 6)
    kek6
    (see all 6)
    15(a)
    12(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    2L(13212335-13215152)
    3R(27447858-27490368)


    ENSEMBL Gene Tree for ISLR2 (if available)
    TreeFam Gene Tree for ISLR2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ISLR2 gene
    LRRC262  SLIT22  ISLR2  LRRC172  LRIT22  SLIT12  LRRC522  LRTM12  
    LRIT12  LRTM22  SLIT32  LRIT32  LRRC552  LRRC242  LRRC382  
    8 SIMAP similar genes for ISLR2 using alignment to 5 protein entries:     ISLR2_HUMAN (see all proteins):
    ISLR    LRIG3    PODNL1    LRRC4    SLIT2    TLR10
    LINGO3    LINGO1

    ISLR2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/115 NCBI SNPs in ISLR2 are shown (see all 115    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1418787581,2
    --74419798(+) AGCGCC/GAAGTA 2 -- us2k1 nc-transcript-variant0--------
    rs44549211,2
    C,F,A,H,--74419809(+) GGGACA/CGCGCC 2 -- nc-transcript-variantus2k17Minor allele frequency- C:0.05NS NA WA 912
    rs129042681,2
    C,F,H,--74420226(+) CTGGGT/GCTGTC 3 -- us2k1 nc-transcript-varianttfbs319Minor allele frequency- G:0.35NS EA NA 2228
    rs1506082861,2
    --74420292(+) TCTGGG/TACCCT 3 -- us2k1 nc-transcript-variant0--------
    rs1908047091,2
    --74420436(+) CAGCCC/TTCCCT 3 -- us2k1 nc-transcript-variant0--------
    rs1397013301,2
    --74420727(+) GGCCCA/GCGGGA 4 -- us2k1 nc-transcript-variant0--------
    rs799254461,2
    C,F,--74420796(+) CCTGCC/TGAACT 5 -- us2k1 nc-transcript-variant1Minor allele frequency- T:0.04WA 118
    rs1497884791,2
    --74420952(+) TTACCC/TAGATT 5 -- us2k1 nc-transcript-variant0--------
    rs22793791,2
    C,F,A,H,--74421010(+) ACCGGC/GGGAGG 5 -- int1 us2k114Minor allele frequency- G:0.42EA NS NA WA CSA 1491
    rs1830390831,2
    --74421025(+) TGAGCC/TTCCCC 5 -- us2k1 int10--------

    HapMap Linkage Disequilibrium report for ISLR2 (74392652 - 74430881 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ISLR2
         1 CNV: 3968
         1 Inversion: 37170

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ISLR2
    DNA2.0 Custom Variant and Variant Library Synthesis for ISLR2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ISLR2 for disorders           About GeneDecksing

    OMIM gene information: 614179    OMIM disorders: --

    1 disease for ISLR2:    About MalaCards
    bardet-biedl syndrome


    Export disorders for ISLR2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ISLR2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ISLR2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (2003)
    2. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2, 3 Nagase T.... Ohara O. (2000)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    6. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)2 Nakajima D.... Nagase T. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57611 HGNC: 29286 AceView: KIAA1465 Ensembl:ENSG00000167178 euGenes: HUgn57611
    ECgene: ISLR2 H-InvDB: ISLR2

    (According to HUGE)
    About This Section
    HUGE: KIAA1465

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ISLR2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ISLR2 gene:
    Search GeneIP for patents involving ISLR2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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