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Aliases for ISL2 Gene

Aliases for ISL2 Gene

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

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. 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 for ISL2 Gene

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

Additional gene information for ISL2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISL2 Gene

Genomics for ISL2 Gene

GeneHancer (GH) Regulatory Elements for ISL2 Gene

Promoters and enhancers for ISL2 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
GH15I076335 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 561.2 +3.5 3488 8.8 HDGF PKNOX1 SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ISL2 MAN2C1 SCAPER DNM1P35 FBXO22 SIN3A ENSG00000260274 ETFA NEIL1 LOC441728
GH15I076333 Enhancer 0.8 ENCODE 550.8 -2.0 -1967 0.2 ELF3 HDGF FOXA2 ARID4B DMAP1 RAD21 THRB THAP11 MIXL1 SP5 ISL2 ETFA GC15P076261
GH15I076345 Enhancer 1.3 Ensembl ENCODE dbSUPER 16.5 +10.6 10641 2.7 PKNOX1 ARID4B DMAP1 ZNF48 GLIS2 KLF7 SP3 TSHZ1 ZNF610 GLIS1 SCAPER ISL2 RCN2 ENSG00000270036 GC15M076371
GH15I076309 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 7.1 -23.3 -23282 5.9 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 ETFA GC15M076311 SIN3A MAN2C1 ENSG00000260274 DNM1P35 SCAPER TYRO3P LOC441728 SNUPN
GH15I076195 Enhancer 1.3 Ensembl ENCODE dbSUPER 8.1 -138.3 -138344 4.3 PKNOX1 ARID4B DMAP1 SLC30A9 GLIS2 FOS DEK SP5 MXD4 PPARG SCAPER TMEM266 NRG4 ISL2 ETFA TSPAN3 LOC101929439 ENSG00000196274
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ISL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ISL2 gene promoter:

Genomic Locations for ISL2 Gene

Genomic Locations for ISL2 Gene
chr15:76,335,942-76,342,476
(GRCh38/hg38)
Size:
6,535 bases
Orientation:
Plus strand
chr15:76,629,065-76,634,817
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for ISL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Suggested Antigen Peptide Sequences for ISL2 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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.

Gene Ontology (GO) - Molecular Function for ISL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding ISS 17091338
GO:0043565 sequence-specific DNA binding IEA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 5
cytosol 2

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:0005634 nucleus IEA,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

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:0007275 multicellular organism development IEA --
GO:0021520 spinal cord motor neuron cell fate specification IEA --
GO:0021524 visceral motor neuron differentiation IEA --
GO:0031290 retinal ganglion cell axon guidance IEA --
genes like me logo Genes that share ontologies with ISL2: view

No data available for SIGNOR curated interactions for ISL2 Gene

Drugs & Compounds for ISL2 Gene

No Compound Related Data Available

Transcripts for ISL2 Gene

mRNA/cDNA for ISL2 Gene

Unigene Clusters for ISL2 Gene

ISL LIM homeobox 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for ISL2 Gene

GeneLoc Exon Structure for
ISL2
ECgene alternative splicing isoforms for
ISL2

Expression for ISL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ISL2 Gene



NURSA nuclear receptor signaling pathways regulating expression of ISL2 Gene:

ISL2

SOURCE GeneReport for Unigene cluster for ISL2 Gene:

Hs.444677

Evidence on tissue expression from TISSUES for ISL2 Gene

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

Primer Products

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 33 34
  • 99.81 (n)
cow
(Bos Taurus)
Mammalia ISL2 33 34
  • 95.17 (n)
mouse
(Mus musculus)
Mammalia Isl2 33 16 34
  • 93.41 (n)
dog
(Canis familiaris)
Mammalia ISL2 34
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ISL2 34
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Isl2 33
  • 92.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ISL2 34
  • 68 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii isl2b 34
  • 86 (a)
OneToMany
isl2a 33 34
  • 76.42 (n)
isl2 33
fruit fly
(Drosophila melanogaster)
Insecta tup 35 34
  • 65 (a)
worm
(Caenorhabditis elegans)
Secernentea lim-7 35 34
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
OneToMany
Species where no ortholog for ISL2 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)
  • 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 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)

Paralogs for ISL2 Gene

Paralogs for ISL2 Gene

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

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

Variants for ISL2 Gene

Sequence variations from dbSNP and Humsavar for ISL2 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000191675 -- 76,338,559(+) C/A intron_variant, non_coding_transcript_variant
rs1001063008 -- 76,340,660(+) A/G intron_variant
rs1001369842 -- 76,340,434(+) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1001414775 -- 76,339,486(+) C/T intron_variant, non_coding_transcript_variant
rs1002049240 -- 76,336,612(+) CCCAACCCACCCC/CC upstream_transcript_variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISL2 Gene

Disorders for ISL2 Gene

Additional Disease Information for ISL2

No disorders were found for ISL2 Gene.

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

Publications for ISL2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. 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 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 58

Products for ISL2 Gene

Sources for ISL2 Gene

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