Aliases for ISL2 Gene

Aliases for ISL2 Gene

  • ISL LIM Homeobox 2 2 3 5
  • ISL2 Transcription Factor, LIM/Homeodomain, (Islet-2) 2 3
  • Insulin Gene Enhancer Protein ISL-2 3 4
  • Islet-2 3 4
  • FLJ10160 2
  • ISL2 5

External Ids for ISL2 Gene

Previous GeneCards Identifiers for ISL2 Gene

  • GC15P072517
  • GC15P069719
  • GC15P074205
  • GC15P074344
  • GC15P074416
  • GC15P076629
  • GC15P053386

Summaries for ISL2 Gene

GeneCards Summary for ISL2 Gene

ISL2 (ISL LIM Homeobox 2) is a Protein Coding gene. Diseases associated with ISL2 include Amme Complex. Among its related pathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is ISL1.

UniProtKB/Swiss-Prot Summary for ISL2 Gene

  • Transcriptional factor that defines subclasses of motoneurons that segregate into columns in the spinal cord and select distinct axon pathways.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ISL2 Gene

Genomics for ISL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ISL2 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 ISL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ISL2

Top Transcription factor binding sites by QIAGEN in the ISL2 gene promoter:
  • AML1a
  • Cart-1
  • N-Myc
  • NF-kappaB
  • NF-kappaB1
  • Pax-2
  • Pax-2a
  • Pax-5
  • POU2F1
  • POU2F1a

Genomic Locations for ISL2 Gene

Latest Assembly
chr15:76,336,773-76,342,475
(GRCh38/hg38)
Size:
5,703 bases
Orientation:
Plus strand

Previous Assembly
chr15:76,629,114-76,634,816
(GRCh37/hg19 by Entrez Gene)
Size:
5,703 bases
Orientation:
Plus strand

chr15:76,629,065-76,634,817
(GRCh37/hg19 by Ensembl)
Size:
5,753 bases
Orientation:
Plus strand

Genomic View for ISL2 Gene

Genes around ISL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISL2 Gene

Proteins for ISL2 Gene

  • Protein details for ISL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96A47-ISL2_HUMAN
    Recommended name:
    Insulin gene enhancer protein ISL-2
    Protein Accession:
    Q96A47
    Secondary Accessions:
    • B3KM37

    Protein attributes for ISL2 Gene

    Size:
    359 amino acids
    Molecular mass:
    39768 Da
    Quaternary structure:
    • Interacts with LHX4.

neXtProt entry for ISL2 Gene

Post-translational modifications for ISL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ISL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ISL2 Gene

Domains & Families for ISL2 Gene

Gene Families for ISL2 Gene

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

Protein Domains for ISL2 Gene

InterPro:
Blocks:
  • Zn-binding protein, LIM

Suggested Antigen Peptide Sequences for ISL2 Gene

GenScript: Design optimal peptide antigens:
  • Insulin gene enhancer protein ISL-2 (F1T0J9_HUMAN)
  • Insulin gene enhancer protein ISL-2 (ISL2_HUMAN)
genes like me logo Genes that share domains with ISL2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ISL2 Gene

Function for ISL2 Gene

Molecular function for ISL2 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional factor that defines subclasses of motoneurons that segregate into columns in the spinal cord and select distinct axon pathways.

Phenotypes From GWAS Catalog for ISL2 Gene

Gene Ontology (GO) - Molecular Function for ISL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0000987 proximal promoter sequence-specific DNA binding IBA 21873635
GO:0003677 DNA binding ISS 17091338
GO:0005515 protein binding IPI 27820671
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ISL2: view
genes like me logo Genes that share phenotypes with ISL2: view

Animal Models for ISL2 Gene

MGI Knock Outs for ISL2:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ISL2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ISL2 Gene

Localization for ISL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISL2 Gene

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 ISL2 gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ISL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA,IC 17091338
genes like me logo Genes that share ontologies with ISL2: view

Pathways & Interactions for ISL2 Gene

genes like me logo Genes that share pathways with ISL2: view

Pathways by source for ISL2 Gene

SIGNOR curated interactions for ISL2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ISL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0007409 axonogenesis IBA 21873635
GO:0021520 spinal cord motor neuron cell fate specification IEA --
genes like me logo Genes that share ontologies with ISL2: view

Drugs & Compounds for ISL2 Gene

No Compound Related Data Available

Transcripts for ISL2 Gene

mRNA/cDNA for ISL2 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ISL2

Alternative Splicing Database (ASD) splice patterns (SP) for ISL2 Gene

No ASD Table

Relevant External Links for ISL2 Gene

GeneLoc Exon Structure for
ISL2

Expression for ISL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ISL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ISL2 Gene

This gene is overexpressed in Vagina (x5.5), Esophagus - Gastroesophageal Junction (x4.9), Whole Blood (x4.4), and Pituitary (x4.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ISL2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ISL2

SOURCE GeneReport for Unigene cluster for ISL2 Gene:

Hs.444677

Evidence on tissue expression from TISSUES for ISL2 Gene

  • Eye(4.4)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with ISL2: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ISL2 Gene

Orthologs for ISL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ISL2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ISL2 29 30
  • 99.81 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ISL2 29 30
  • 95.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Isl2 29 16 30
  • 93.41 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ISL2 30
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ISL2 30
  • 93 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Isl2 29
  • 92.57 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ISL2 30
  • 68 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii isl2b 30
  • 86 (a)
OneToMany
isl2a 29 30
  • 76.42 (n)
OneToMany
isl2 29
Fruit Fly
(Drosophila melanogaster)
Insecta tup 30 31
  • 39 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea lim-7 30 31
  • 33 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 50 (a)
OneToMany
Species where no ortholog for ISL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Chicken (Gallus gallus)
  • 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 Vase (Ciona intestinalis)
  • 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)

Evolution for ISL2 Gene

ENSEMBL:
Gene Tree for ISL2 (if available)
TreeFam:
Gene Tree for ISL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ISL2: view image
Alliance of Genome Resources:
Additional Orthologs for ISL2

Paralogs for ISL2 Gene

Paralogs for ISL2 Gene

(17) SIMAP similar genes for ISL2 Gene using alignment to 3 proteins:

  • ISL2_HUMAN
  • F1T0J9_HUMAN
  • H0YN25_HUMAN
genes like me logo Genes that share paralogs with ISL2: view

Variants for ISL2 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ISL2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ISL2 Gene

Variant ID Type Subtype PubMed ID
esv2749895 CNV deletion 23290073
esv2749898 CNV deletion 23290073
nsv1116463 OTHER inversion 24896259
nsv1619 CNV insertion 18451855
nsv525769 CNV loss 19592680
nsv827391 CNV gain 20364138

Variation tolerance for ISL2 Gene

Residual Variation Intolerance Score: 30.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ISL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISL2
Leiden Open Variation Database (LOVD)
ISL2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ISL2 Gene

Disorders for ISL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ISL2 Gene - From: COP

Disorder Aliases PubMed IDs
amme complex
  • alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
- elite association - COSMIC cancer census association via MalaCards
Search ISL2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ISL2

genes like me logo Genes that share disorders with ISL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ISL2 Gene

Publications for ISL2 Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. A protein-interaction network of interferon-stimulated genes extends the innate immune system landscape. (PMID: 30833792) Hubel P … Pichlmair A (Nature immunology 2019) 3
  5. Impact of cytosine methylation on DNA binding specificities of human transcription factors. (PMID: 28473536) Yin Y … Taipale J (Science (New York, N.Y.) 2017) 3

Products for ISL2 Gene

  • Boster Bio Antibodies for ISL2
  • Boster Bio ELISA Kits for ISL2

Sources for ISL2 Gene