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Aliases for ISLR2 Gene

Aliases for ISLR2 Gene

  • Immunoglobulin Superfamily Containing Leucine-Rich Repeat 2 2 3
  • LINX 3 4 6
  • Leucine-Rich Repeat Domain And Immunoglobulin Domain-Containing Axon Extension Protein 3 4
  • Immunoglobulin Superfamily Containing Leucine-Rich Repeat Protein 2 3
  • KIAA1464 6
  • KIAA1465 4

External Ids for ISLR2 Gene

Summaries for ISLR2 Gene

GeneCards Summary for ISLR2 Gene

ISLR2 (Immunoglobulin Superfamily Containing Leucine-Rich Repeat 2) is a Protein Coding gene. Diseases associated with ISLR2 include bardet-biedl syndrome. An important paralog of this gene is SLITRK3.

UniProtKB/Swiss-Prot for ISLR2 Gene

  • Required for axon extension during neural development.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISLR2 Gene

Genomics for ISLR2 Gene

Genomic Location for ISLR2 Gene

Start:
74,100,311 bp from pter
End:
74,138,540 bp from pter
Size:
38,230 bases
Orientation:
Plus strand

Genomic View for ISLR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ISLR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISLR2 Gene

Regulatory Elements for ISLR2 Gene

Transcription factor binding sites by QIAGEN in the ISLR2 gene promoter:

Proteins for ISLR2 Gene

  • Protein details for ISLR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UXK2-ISLR2_HUMAN
    Recommended name:
    Immunoglobulin superfamily containing leucine-rich repeat protein 2
    Protein Accession:
    Q6UXK2
    Secondary Accessions:
    • A8K352
    • Q9P263

    Protein attributes for ISLR2 Gene

    Size:
    745 amino acids
    Molecular mass:
    78990 Da
    Quaternary structure:
    • Homomultimer. Interacts with NTRK1/TrkA (By similarity).
    SequenceCaution:
    • Sequence=BAA95989.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ISLR2 Gene

Proteomics data for ISLR2 Gene at MOPED

Post-translational modifications for ISLR2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn52, Asn121, Asn337, Asn364, Asn474, and Asn563

No data available for DME Specific Peptides for ISLR2 Gene

Domains for ISLR2 Gene

Gene Families for ISLR2 Gene

HGNC:
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing

UniProtKB/Swiss-Prot:

ISLR2_HUMAN
Domain:
  • Contains 1 Ig-like (immunoglobulin-like) domain.:
    • Q6UXK2
  • Contains 1 LRRCT domain.:
    • Q6UXK2
  • Contains 1 LRRNT domain.:
    • Q6UXK2
Similarity:
  • Contains 5 LRR (leucine-rich) repeats.:
    • Q6UXK2
genes like me logo Genes that share domains with ISLR2: view

Function for ISLR2 Gene

Molecular function for ISLR2 Gene

UniProtKB/Swiss-Prot Function: Required for axon extension during neural development.

Gene Ontology (GO) - Molecular Function for ISLR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with ISLR2: view

Phenotypes for ISLR2 Gene

genes like me logo Genes that share phenotypes with ISLR2: view

miRNA for ISLR2 Gene

miRTarBase miRNAs that target ISLR2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ISLR2 Gene

Localization for ISLR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISLR2 Gene

Cell membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ISLR2 Gene COMPARTMENTS Subcellular localization image for ISLR2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
endoplasmic reticulum 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ISLR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0009986 cell surface ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ISLR2: view

Pathways for ISLR2 Gene

SuperPathways for ISLR2 Gene

No Data Available

Interacting Proteins for ISLR2 Gene

Gene Ontology (GO) - Biological Process for ISLR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045773 positive regulation of axon extension ISS --
genes like me logo Genes that share ontologies with ISLR2: view

No data available for Pathways by source for ISLR2 Gene

Transcripts for ISLR2 Gene

Unigene Clusters for ISLR2 Gene

Immunoglobulin superfamily containing leucine-rich repeat 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ISLR2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d · 6e
SP1: - - - - - - -
SP2: - - - -
SP3: - - -
SP4: -
SP5: -
SP6:

Relevant External Links for ISLR2 Gene

GeneLoc Exon Structure for
ISLR2
ECgene alternative splicing isoforms for
ISLR2

Expression for ISLR2 Gene

mRNA expression in normal human tissues for ISLR2 Gene

mRNA differential expression in normal tissues according to GTEx for ISLR2 Gene

This gene is overexpressed in Testis (6.2), Brain - Nucleus accumbens (basal ganglia) (5.2), Brain - Cortex (5.1), Brain - Anterior cingulate cortex (BA24) (5.0), Brain - Putamen (basal ganglia) (4.7), Brain - Caudate (basal ganglia) (4.2), and Brain - Frontal Cortex (BA9) (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ISLR2 Gene

SOURCE GeneReport for Unigene cluster for ISLR2 Gene Hs.254775

genes like me logo Genes that share expressions with ISLR2: view

Orthologs for ISLR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ISLR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ISLR2 36
  • 98.75 (n)
  • 98.41 (a)
ISLR2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ISLR2 36
  • 86.58 (n)
  • 90.34 (a)
ISLR2 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ISLR2 36
  • 86.88 (n)
  • 90.03 (a)
ISLR2 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Islr2 36
  • 84.54 (n)
  • 89.38 (a)
Islr2 16
Islr2 37
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 63 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 64 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia LOC100910729 36
  • 84.09 (n)
  • 89.38 (a)
chicken
(Gallus gallus)
Aves ISLR2 36
  • 63.44 (n)
  • 58.63 (a)
ISLR2 37
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia islr2 36
  • 54.11 (n)
  • 51.55 (a)
zebrafish
(Danio rerio)
Actinopterygii islr2 36
  • 54.34 (n)
  • 51.17 (a)
islr2 37
  • 49 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta kek1 37
  • 13 (a)
ManyToMany
kek2 37
  • 14 (a)
ManyToMany
kek3 37
  • 14 (a)
ManyToMany
kek4 37
  • 17 (a)
ManyToMany
kek5 37
  • 14 (a)
ManyToMany
kek6 37
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 19 (a)
ManyToMany
-- 37
  • 26 (a)
ManyToMany
CSA.1672 37
  • 20 (a)
ManyToMany
Species with no ortholog for ISLR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ISLR2 Gene

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

Paralogs for ISLR2 Gene

Selected SIMAP similar genes for ISLR2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ISLR2: view

Variants for ISLR2 Gene

Sequence variations from dbSNP and Humsavar for ISLR2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs3743207 -- 74,133,069(+) CTCGA(C/T)CTGAG synonymous-codon, reference
rs3889598 - 74,133,164(+) GGGCT(C/T)TCTGC reference, missense
rs3910071 -- 74,131,810(-) TGCTC(C/T)GCCAA intron-variant
rs5813743 -- 74,133,879(+) GCAAC(-/C)GGGCC frameshift-variant, reference
rs11072476 -- 74,134,291(+) CTGGG(C/T)CCGGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ISLR2 Gene

Variant ID Type Subtype PubMed ID
dgv756e1 CNV Complex 17122850
nsv428308 CNV Gain+Loss 18775914
nsv469619 CNV Loss 16826518
nsv833053 CNV Loss 17160897
nsv827385 CNV Gain 20364138

Relevant External Links for ISLR2 Gene

HapMap Linkage Disequilibrium report
ISLR2

Disorders for ISLR2 Gene

(1) MalaCards Diseases for ISLR2 Gene

Search for ISLR2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for ISLR2 Gene

genes like me logo Genes that share disorders with ISLR2: view

No data available for UniProtKB/Swiss-Prot for ISLR2 Gene

Publications for ISLR2 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4
  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. (PMID: 10819331) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  5. Quantitative Lys-I/-Gly-Gly (diGly) proteomics coupled with inducible RNAi reveals ubiquitin-mediated proteolysis of DNA damage-inducible transcript 4 (DDIT4) by the E3 ligase HUWE1. (PMID: 25147182) Thompson J.W. … Luchansky S.J. (J. Biol. Chem. 2014) 3

Products for ISLR2 Gene

Sources for ISLR2 Gene

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