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Aliases for ISLR Gene

Aliases for ISLR Gene

  • Immunoglobulin Superfamily Containing Leucine Rich Repeat 2 3 5
  • Mesenchymal Stromal Cell- And Fibroblast-Expressing Linx Paralogue 3
  • Immunoglobulin Superfamily Containing Leucine-Rich Repeat Protein 3
  • HsT17563 3
  • Meflin 3

External Ids for ISLR Gene

Previous GeneCards Identifiers for ISLR Gene

  • GC15P070487
  • GC15P067582
  • GC15P072042
  • GC15P072181
  • GC15P072253
  • GC15P074466
  • GC15P051260

Summaries for ISLR Gene

GeneCards Summary for ISLR Gene

ISLR (Immunoglobulin Superfamily Containing Leucine Rich Repeat) is a Protein Coding gene. Among its related pathways are Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is ISLR2.

Additional gene information for ISLR Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISLR Gene

Genomics for ISLR Gene

GeneHancer (GH) Regulatory Elements for ISLR Gene

Promoters and enhancers for ISLR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J074168 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 664.1 -1.9 -1913 7.3 ZNF473 ZSCAN4 GLI4 ZNF48 ZNF2 SCRT2 ZFP91 EGR2 ZIK1 ZNF398 ISLR EDC3 LOC732265 LOC102723657 LOC105370890 FAM219B GOLGA6A STRA6 ENSG00000261543 CCDC33
GH15J074539 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE 21.7 +368.3 368289 4.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B IRF4 YY1 ARID3B SIN3A MAN2C1 ENSG00000260274 EDC3 PML UBL7-AS1 CLK3 LOC101929333 ISLR
GH15J074888 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 24.5 +717.0 716958 4 HDGF MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 MPI RPP25 SIN3A ENSG00000203392 SNX33 ISLR PTPN9 GOLGA6D LOC105370902 LOC732265
GH15J073628 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 21.1 -541.7 -541661 6.3 HDGF PKNOX1 CLOCK FOXA2 ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 NPTN PML ISLR CLK3 BBS4 CD276 GC15M073574
GH15J074936 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 18.6 +764.0 764000 2.6 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 COX5A SIN3A ENSG00000260274 MAN2C1 EDC3 FBXO22 RPP25 DNM1P35 CLK3 ENSG00000203392
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ISLR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ISLR gene promoter:

Genomic Locations for ISLR Gene

Genomic Locations for ISLR Gene
chr15:74,173,671-74,176,872
(GRCh38/hg38)
Size:
3,202 bases
Orientation:
Plus strand
chr15:74,466,012-74,469,213
(GRCh37/hg19)

Genomic View for ISLR Gene

Genes around ISLR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISLR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISLR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISLR Gene

Proteins for ISLR Gene

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

    Protein Symbol:
    O14498-ISLR_HUMAN
    Recommended name:
    Immunoglobulin superfamily containing leucine-rich repeat protein
    Protein Accession:
    O14498

    Protein attributes for ISLR Gene

    Size:
    428 amino acids
    Molecular mass:
    45997 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ISLR Gene

Post-translational modifications for ISLR Gene

  • Glycosylation at Asn309 and Asn51
  • Modification sites at PhosphoSitePlus

Other Protein References for ISLR Gene

No data available for DME Specific Peptides for ISLR Gene

Domains & Families for ISLR Gene

Gene Families for ISLR Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for ISLR Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ISLR: view

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

Function for ISLR Gene

Molecular function for ISLR Gene

GENATLAS Biochemistry:
immunoglobulin superfamily containing a leucine rich repeat,widely expressed,involved in cell adhesion,widely but differentially expressed,with two alternatively spliced identical isoforms,located in the critical region of BBS4

Phenotypes From GWAS Catalog for ISLR Gene

Gene Ontology (GO) - Molecular Function for ISLR Gene

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

Animal Models for ISLR Gene

MGI Knock Outs for ISLR:
  • Islr Islr<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for ISLR

miRNA for ISLR Gene

miRTarBase miRNAs that target ISLR

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ISLR Gene

Localization for ISLR Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISLR Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ISLR gene
Compartment Confidence
extracellular 5
plasma membrane 2
endoplasmic reticulum 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ISLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0031093 platelet alpha granule lumen TAS --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with ISLR: view

Pathways & Interactions for ISLR Gene

genes like me logo Genes that share pathways with ISLR: view

Gene Ontology (GO) - Biological Process for ISLR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0007155 cell adhesion TAS 9325048
genes like me logo Genes that share ontologies with ISLR: view

No data available for SIGNOR curated interactions for ISLR Gene

Drugs & Compounds for ISLR Gene

No Compound Related Data Available

Transcripts for ISLR Gene

mRNA/cDNA for ISLR Gene

Unigene Clusters for ISLR Gene

Immunoglobulin superfamily containing leucine-rich repeat:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for ISLR Gene

GeneLoc Exon Structure for
ISLR
ECgene alternative splicing isoforms for
ISLR

Expression for ISLR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ISLR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ISLR Gene

This gene is overexpressed in Thyroid (20.2) and Uterus (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ISLR Gene



Protein tissue co-expression partners for ISLR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ISLR Gene:

ISLR

SOURCE GeneReport for Unigene cluster for ISLR Gene:

Hs.699822

mRNA Expression by UniProt/SwissProt for ISLR Gene:

O14498-ISLR_HUMAN
Tissue specificity: Expressed in various tissues including retina, heart, skeletal muscle, prostate, ovary, small intestine, thyroid, adrenal cortex, testis, stomach and spinal cord.

Evidence on tissue expression from TISSUES for ISLR Gene

  • Eye(4.4)
  • Nervous system(4.1)
  • Spleen(2.4)
genes like me logo Genes that share expression patterns with ISLR: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ISLR Gene

Orthologs for ISLR Gene

This gene was present in the common ancestor of animals.

Orthologs for ISLR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ISLR 34 33
  • 99.22 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ISLR 34 33
  • 88.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ISLR 34 33
  • 86.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Islr 16 34 33
  • 85.19 (n)
rat
(Rattus norvegicus)
Mammalia Islr 33
  • 84.67 (n)
oppossum
(Monodelphis domestica)
Mammalia ISLR 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ISLR 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISLR 33
  • 61.19 (n)
ISLR2 34
  • 28 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii islr2 34
  • 24 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta kek4 34
  • 14 (a)
ManyToMany
kek5 34
  • 10 (a)
ManyToMany
kek1 34
  • 10 (a)
ManyToMany
kek3 34
  • 10 (a)
ManyToMany
kek6 34
  • 9 (a)
ManyToMany
kek2 34
  • 9 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
ManyToMany
CSA.1672 34
  • 16 (a)
ManyToMany
-- 34
  • 15 (a)
ManyToMany
Species where no ortholog for ISLR was found in the sources mined by GeneCards:
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ISLR Gene

ENSEMBL:
Gene Tree for ISLR (if available)
TreeFam:
Gene Tree for ISLR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ISLR: view image

Paralogs for ISLR Gene

Paralogs for ISLR Gene

(10) SIMAP similar genes for ISLR Gene using alignment to 3 proteins:

  • ISLR_HUMAN
  • H0YL90_HUMAN
  • H0YN67_HUMAN
genes like me logo Genes that share paralogs with ISLR: view

Variants for ISLR Gene

Sequence variations from dbSNP and Humsavar for ISLR Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs376998994 A colorectal cancer sample 74,175,405(+) G/A coding_sequence_variant, missense_variant
rs1000021784 -- 74,176,746(+) T/A 3_prime_UTR_variant
rs1000204094 -- 74,174,149(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000802828 -- 74,172,837(+) C/T upstream_transcript_variant
rs1001737312 -- 74,175,506(+) C/G coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv1050884 CNV gain 25217958
nsv1121512 CNV deletion 24896259
nsv469619 CNV loss 16826518
nsv833053 CNV loss 17160897
nsv833054 CNV loss 17160897

Variation tolerance for ISLR Gene

Residual Variation Intolerance Score: 67.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.29; 25.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ISLR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISLR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISLR Gene

Disorders for ISLR Gene

Additional Disease Information for ISLR

No disorders were found for ISLR Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ISLR Gene

Publications for ISLR Gene

  1. Cloning of the cDNA for a new member of the immunoglobulin superfamily (ISLR) containing leucine-rich repeat (LRR). (PMID: 9325048) Nagasawa A … Shimizu N (Genomics 1997) 2 3 4 58
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58
  3. Human and mouse ISLR (immunoglobulin superfamily containing leucine-rich repeat) genes: genomic structure and tissue expression. (PMID: 10512678) Nagasawa A … Shimizu N (Genomics 1999) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Identification of Meflin as a Potential Marker for Mesenchymal Stromal Cells. (PMID: 26924503) Maeda K … Takahashi M (Scientific reports 2016) 3 58

Products for ISLR Gene

Sources for ISLR Gene

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