Aliases for ISLR Gene

Aliases for ISLR Gene

  • Immunoglobulin Superfamily Containing Leucine Rich Repeat 2 3 5
  • Immunoglobulin Superfamily Containing Leucine-Rich Repeat Protein 3 4
  • Mesenchymal Stromal Cell- And Fibroblast-Expressing Linx Paralogue 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. Diseases associated with ISLR include Regular Astigmatism. 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 Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ISLR Gene

Genomics for ISLR Gene

GeneHancer (GH) Regulatory Elements for ISLR Gene

Promoters and enhancers for ISLR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ISLR on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ISLR

Top Transcription factor binding sites by QIAGEN in the ISLR gene promoter:
  • ATF6
  • E47
  • MZF-1
  • Tal-1beta
  • ZID

Genomic Locations for ISLR Gene

Genomic Locations for ISLR Gene
chr15:74,173,710-74,176,872
(GRCh38/hg38)
Size:
3,163 bases
Orientation:
Plus strand
chr15:74,466,012-74,469,213
(GRCh37/hg19)
Size:
3,202 bases
Orientation:
Plus strand

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 Asn51, Asn120, and Asn309
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

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

Protein Domains for ISLR Gene

Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin I-set
  • Cysteine-rich flanking region, C-terminal
  • Cysteine-rich flanking region, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ISLR Gene

GenScript: Design optimal peptide antigens:
  • Immunoglobulin superfamily containing leucine-rich repeat protein (ISLR_HUMAN)
genes like me logo Genes that share domains with ISLR: view

No data available for Graphical View of Domain Structure and 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

CRISPR Products

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 4
plasma membrane 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 0

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: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

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

Expression for ISLR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.22 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ISLR 31 30
  • 88.3 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ISLR 31 30
  • 86.91 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Islr 17 31 30
  • 85.19 (n)
rat
(Rattus norvegicus)
Mammalia Islr 30
  • 84.67 (n)
oppossum
(Monodelphis domestica)
Mammalia ISLR 31
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ISLR 31
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISLR 30
  • 61.19 (n)
ISLR2 31
  • 28 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii islr2 31
  • 24 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta kek4 31
  • 14 (a)
ManyToMany
kek5 31
  • 10 (a)
ManyToMany
kek1 31
  • 10 (a)
ManyToMany
kek3 31
  • 10 (a)
ManyToMany
kek6 31
  • 9 (a)
ManyToMany
kek2 31
  • 9 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 25 (a)
ManyToMany
CSA.1672 31
  • 16 (a)
ManyToMany
-- 31
  • 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ISLR Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs376998994 A colorectal cancer sample p.Asp183Asn

Additional dbSNP identifiers (rs#s) for ISLR Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for ISLR Gene - From: DISEASES

Disorder Aliases PubMed IDs
regular astigmatism
- elite association - COSMIC cancer census association via MalaCards
Search ISLR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ISLR

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

No data available for 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 54
  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 54
  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 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. Identification of Meflin as a Potential Marker for Mesenchymal Stromal Cells. (PMID: 26924503) Maeda K … Takahashi M (Scientific reports 2016) 3 54

Products for ISLR Gene

Sources for ISLR Gene