Aliases for ISLR2 Gene

Aliases for ISLR2 Gene

  • Immunoglobulin Superfamily Containing Leucine Rich Repeat 2 2 3 5
  • Leucine-Rich Repeat Domain And Immunoglobulin Domain-Containing Axon Extension Protein 3 4
  • Immunoglobulin Superfamily Containing Leucine-Rich Repeat Protein 2 3 4
  • LINX 3 4
  • KIAA1465 4

External Ids for ISLR2 Gene

Previous GeneCards Identifiers for ISLR2 Gene

  • GC15P072209
  • GC15P074421
  • GC15P051215
  • GC15P074392

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 Hernia, Hiatus and Chicken Egg Allergy. An important paralog of this gene is ISLR.

UniProtKB/Swiss-Prot Summary for ISLR2 Gene

Additional gene information for ISLR2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ISLR2 Gene

Genomics for ISLR2 Gene

GeneHancer (GH) Regulatory Elements for ISLR2 Gene

Promoters and enhancers for ISLR2 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
GH15J074100 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 500.7 0.0 -10 1.8 ZBTB40 ZNF217 EP300 POLR2G USF1 ZFX ZNF639 ZNF10 ZIC2 POLR2A COMMD4P2 ENSG00000214702 ISLR2 lnc-ISLR2-1 EDC3 ISLR
GH15J074130 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 500.3 +30.2 30232 0.7 EP300 ZIC2 ZBTB10 ZBTB26 ZNF341 EZH2 WT1 ZBTB17 MXI1 KLF8 ENSG00000248540 LOC283731 ISLR2 piR-33120 lnc-ISLR2-1
GH15J074168 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +74.6 74647 13.7 JUND TEAD4 FOS ZIC2 REST TRIM28 EP300 ATF2 CTBP1 SREBF2 ISLR EDC3 PML ENSG00000261543 STRA6 ISLR2 CCDC33 SCAMP5 UBL7 CD276
GH15J074199 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 +101.7 101732 5.3 CTCF TCF12 USF1 FOS TEAD4 ZNF10 ZIC2 ZBTB10 ZBTB11 ZNF423 CCDC33 ENSG00000288257-001 ENSG00000288407-001 STRA6 ISLR2 ISLR lnc-GOLGA6A-5
GH15J074207 Promoter/Enhancer 1.6 EPDnew ENCODE CraniofacialAtlas dbSUPER 10.3 +109.3 109305 3.5 JUND FOS ZNF639 ZNF10 ZIC2 JUN ATF2 HDAC2 ZNF341 OSR2 STRA6 EDC3 ISLR2 ENSG00000248540 CCDC33 ENSG00000288407-001
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ISLR2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ISLR2

Top Transcription factor binding sites by QIAGEN in the ISLR2 gene promoter:
  • AP-4
  • FOXI1
  • HFH-3

Genomic Locations for ISLR2 Gene

Genomic Locations for ISLR2 Gene
chr15:74,100,311-74,141,841
(GRCh38/hg38)
Size:
41,531 bases
Orientation:
Plus strand
chr15:74,392,652-74,430,881
(GRCh37/hg19)
Size:
38,230 bases
Orientation:
Plus strand

Genomic View for ISLR2 Gene

Genes around ISLR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISLR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISLR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISLR2 Gene

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

Post-translational modifications for ISLR2 Gene

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

No data available for DME Specific Peptides for ISLR2 Gene

Domains & Families for ISLR2 Gene

Gene Families for ISLR2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ISLR2 Gene

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

Suggested Antigen Peptide Sequences for ISLR2 Gene

GenScript: Design optimal peptide antigens:
  • Leucine-rich repeat domain and immunoglobulin domain-containing axon extension protein (ISLR2_HUMAN)
genes like me logo Genes that share domains with ISLR2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ISLR2 Gene

Function for ISLR2 Gene

Molecular function for ISLR2 Gene

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

Phenotypes From GWAS Catalog for ISLR2 Gene

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

Animal Models for ISLR2 Gene

MGI Knock Outs for ISLR2:

Animal Model Products

  • Taconic Biosciences Mouse Models for ISLR2

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets 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
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 ISLR2 gene
Compartment Confidence
plasma membrane 4
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
cytosol 1
golgi apparatus 1
peroxisome 0
endoplasmic reticulum 0
lysosome 0

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,IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ISLR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ISLR2 Gene

Pathways & Interactions for ISLR2 Gene

PathCards logo

SuperPathways for ISLR2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ISLR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0045773 positive regulation of axon extension ISS,IBA --
genes like me logo Genes that share ontologies with ISLR2: view

No data available for Pathways by source and SIGNOR curated interactions for ISLR2 Gene

Drugs & Compounds for ISLR2 Gene

No Compound Related Data Available

Transcripts for ISLR2 Gene

mRNA/cDNA for ISLR2 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
12 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 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

Expression for ISLR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ISLR2 Gene

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

This gene is overexpressed in Testis (x6.2), Brain - Nucleus accumbens (basal ganglia) (x5.2), Brain - Cortex (x5.1), Brain - Anterior cingulate cortex (BA24) (x5.0), Brain - Putamen (basal ganglia) (x4.7), Brain - Caudate (basal ganglia) (x4.2), and Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for ISLR2 Gene

This gene is overexpressed in Lavage (35.8), Fetal Brain (19.5), and Prostate (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ISLR2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ISLR2

SOURCE GeneReport for Unigene cluster for ISLR2 Gene:

Hs.254775

Evidence on tissue expression from TISSUES for ISLR2 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with ISLR2: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ISLR2 Gene

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 31 30
  • 98.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ISLR2 31 30
  • 86.88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ISLR2 31 30
  • 86.58 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Islr2 17 31 30
  • 84.54 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910729 30
  • 84.09 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 64 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 63 (a)
ManyToMany
chicken
(Gallus gallus)
Aves ISLR2 31 30
  • 63.44 (n)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia islr2 30
  • 54.11 (n)
zebrafish
(Danio rerio)
Actinopterygii islr2 31 30
  • 54.34 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta kek4 31
  • 17 (a)
ManyToMany
kek3 31
  • 14 (a)
ManyToMany
kek5 31
  • 14 (a)
ManyToMany
kek2 31
  • 14 (a)
ManyToMany
kek1 31
  • 13 (a)
ManyToMany
kek6 31
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 26 (a)
ManyToMany
CSA.1672 31
  • 20 (a)
ManyToMany
-- 31
  • 19 (a)
ManyToMany
Species where no ortholog for ISLR2 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ISLR2 Gene

ENSEMBL:
Gene Tree for ISLR2 (if available)
TreeFam:
Gene Tree for ISLR2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ISLR2: view image

Paralogs for ISLR2 Gene

Paralogs for ISLR2 Gene

(9) SIMAP similar genes for ISLR2 Gene using alignment to 5 proteins:

  • ISLR2_HUMAN
  • H3BM69_HUMAN
  • H3BM95_HUMAN
  • H3BNZ6_HUMAN
  • Q24JQ5_HUMAN
genes like me logo Genes that share paralogs with ISLR2: view

Variants for ISLR2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ISLR2 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs1567164285 Uncertain Significance: not provided 74,134,413(+) CT/C FRAMESHIFT_VARIANT
rs3889598 - p.Ser137Phe

Additional dbSNP identifiers (rs#s) for ISLR2 Gene

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

Variant ID Type Subtype PubMed ID
esv2760040 CNV gain+loss 17122850
nsv1047564 CNV gain 25217958
nsv1050884 CNV gain 25217958
nsv1121512 CNV deletion 24896259
nsv428308 CNV gain+loss 18775914
nsv469619 CNV loss 16826518
nsv827385 CNV gain 20364138
nsv833053 CNV loss 17160897
nsv951993 CNV deletion 24416366

Variation tolerance for ISLR2 Gene

Residual Variation Intolerance Score: 5.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.59; 56.26% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ISLR2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISLR2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISLR2 Gene

Disorders for ISLR2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ISLR2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
hernia, hiatus
  • hiatal hernia
chicken egg allergy
  • gallus gallus egg allergy
malignant otitis externa
rumination disorder
  • psychogenic rumination
- elite association - COSMIC cancer census association via MalaCards
Search ISLR2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ISLR2

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

No data available for UniProtKB/Swiss-Prot and Genatlas 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 HF … Gray A (Genome research 2003) 2 3 4 54
  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 research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension. (PMID: 30483960) Alazami AM … Alkuraya FS (Human genetics 2019) 3 54
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal KB … Olsen JV (Science signaling 2015) 3 54

Products for ISLR2 Gene

Sources for ISLR2 Gene