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    ISL2 ISL LIM homeobox 2 [ Homo sapiens (human) ]

    Gene ID: 64843, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ISL2provided by HGNC
    Official Full Name
    ISL LIM homeobox 2provided by HGNC
    Primary source
    HGNC:HGNC:18524
    See related
    Ensembl:ENSG00000159556 MIM:609481; AllianceGenome:HGNC:18524
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in axonogenesis; neuron fate specification; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of neuron differentiation and neuron differentiation. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See ISL2 in Genome Data Viewer
    Location:
    15q24.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (76336773..76342475)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (74207935..74213638)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (76629114..76634816)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene transmembrane protein 266 Neighboring gene uncharacterized LOC101929439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9874 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9875 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:76482438-76482591 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:76488419-76488980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:76488981-76489540 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:76489541-76490100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:76491300-76491944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:76491945-76492588 Neighboring gene NANOG hESC enhancer GRCh37_chr15:76526655-76527344 Neighboring gene electron transfer flavoprotein subunit alpha Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:76603062-76603562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9877 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:76603563-76604063 Neighboring gene CRISPRi-validated cis-regulatory element chr15.2471 Neighboring gene TYRO3P protein tyrosine kinase pseudogene Neighboring gene Sharpr-MPRA regulatory region 228 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:76629623-76630434 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9881 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:76632479-76633234 Neighboring gene uncharacterized LOC124903532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:76638487-76638988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6688 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:76663676-76663893 Neighboring gene tRNA-Lys (anticodon CTT) 16-1 Neighboring gene S-phase cyclin A associated protein in the ER Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:76726060-76727259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9883 Neighboring gene microRNA 3713

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Cloning and expression of a novel human gene, Isl-2, encoded a LIM-homeodomain protein. Li Y, et al. Mol Biol Rep, 2007 Mar. PMID 17091338
    2. Sperry versus Hebb: topographic mapping in Isl2/EphA3 mutant mice. Tsigankov D, et al. BMC Neurosci, 2010 Dec 29. PMID 21190559, Free PMC Article
    3. Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients. Cohen E, et al. J Clin Endocrinol Metab, 2017 Jan 1. PMID 27820671
    4. ISL2 is a putative tumor suppressor whose epigenetic silencing reprograms the metabolism of pancreatic cancer. Ozturk H, et al. Dev Cell, 2022 Jun 6. PMID 35508175
    5. The nuclear LIM domain interactor NLI mediates homo- and heterodimerization of LIM domain transcription factors. Jurata LW, et al. J Biol Chem, 1998 Feb 6. PMID 9452425

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ISL2 is a putative tumor suppressor whose epigenetic silencing reprograms the metabolism of pancreatic cancer.
      Title: ISL2 is a putative tumor suppressor whose epigenetic silencing reprograms the metabolism of pancreatic cancer.
    2. Experiments in Isl2/EphA3 knock-in mice test the interactions between effects of molecular labels and correlated activity during the development of neural connectivity.
      Title: Sperry versus Hebb: topographic mapping in Isl2/EphA3 mutant mice.
    3. The broad expression of Isl-2 gene in tissues during embryogenesis and adult development suggests that it may be involved in both differentiation and maintenance of these tissues and might play an important role.
      Title: Cloning and expression of a novel human gene, Isl-2, encoded a LIM-homeodomain protein.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10160

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in axonogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neuron development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in neuron fate specification IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in peripheral nervous system neuron development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retinal ganglion cell axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spinal cord motor neuron cell fate specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visceral motor neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IC
    Inferred by Curator
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    insulin gene enhancer protein ISL-2
    Names
    ISL2 transcription factor, LIM/homeodomain, (islet-2)
    islet-2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_145805.3 → NP_665804.1  insulin gene enhancer protein ISL-2

      See identical proteins and their annotated locations for NP_665804.1

      Status: VALIDATED

      Source sequence(s)
      AC027243, BC012136, DB055557
      Consensus CDS
      CCDS10290.1
      UniProtKB/Swiss-Prot
      B3KM37, Q96A47
      Related
      ENSP00000290759.4, ENST00000290759.9
      Conserved Domains (3) summary
      cd09366
      Location:27 → 81
      LIM1_Isl; The first LIM domain of Isl, a member of LHX protein family
      cd09471
      Location:89 → 143
      LIM2_Isl2; The second LIM domain of Isl2
      smart00389
      Location:191 → 247
      HOX; Homeodomain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      76336773..76342475
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      74207935..74213638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96A47.1 GenPept UniProtKB/Swiss-Prot:Q96A47

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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