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Aliases for ISM1 Gene

Aliases for ISM1 Gene

  • Isthmin 1 2 3 5
  • Isthmin 1, Angiogenesis Inhibitor 2 3
  • C20orf82 3 4
  • ISM 3 4
  • Chromosome 20 Open Reading Frame 82 2
  • Isthmin 1 Homolog (Zebrafish) 2
  • Isthmin 1 Homolog 3
  • BA149I18.1 3
  • DJ1077I2.1 3
  • Isthmin-1 3
  • Isthmin 3

External Ids for ISM1 Gene

Previous HGNC Symbols for ISM1 Gene

  • C20orf82

Previous GeneCards Identifiers for ISM1 Gene

  • GC20P013150

Summaries for ISM1 Gene

GeneCards Summary for ISM1 Gene

ISM1 (Isthmin 1) is a Protein Coding gene. Diseases associated with ISM1 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 1. An important paralog of this gene is ISM2.

UniProtKB/Swiss-Prot for ISM1 Gene

  • Acts as an angiogenesis inhibitor.

Additional gene information for ISM1 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 ISM1 Gene

Genomics for ISM1 Gene

GeneHancer (GH) Regulatory Elements for ISM1 Gene

Promoters and enhancers for ISM1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I013219 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 550.8 -0.7 -693 2.4 ARID4B SIN3A ZNF48 GLIS2 ZNF143 KLF7 MXD4 REST PPARG ZNF592 ISM1 GC20P013219 GC20M013221
GH20I012924 Enhancer 1.1 Ensembl ENCODE 10.1 -295.8 -295822 2.4 ELF3 RB1 ARID4B NEUROD1 FEZF1 IRF4 ZNF48 RAD21 YY1 SLC30A9 ISM1 LINC01722 LOC105372535 GC20P012834
GH20I013246 Enhancer 0.9 Ensembl ENCODE 11.4 +25.9 25921 2.3 HDGF FOXA2 SMAD1 IRF4 ATF7 ETV6 BCLAF1 HOMEZ IKZF2 RUNX3 ISM1-AS1 ISM1 ENSG00000225956 ENSG00000278153
GH20I013262 Enhancer 0.8 ENCODE 11.5 +40.5 40478 0.2 ELF3 FOXA2 ARID4B DNMT3B ZNF48 ZSCAN9 RAD21 YY1 ZNF143 BCLAF1 ISM1 ENSG00000225956 ENSG00000278153
GH20I013119 Enhancer 0.8 ENCODE 10.8 -102.1 -102062 0.2 FOXA2 RB1 ARID4B ZNF48 ZSCAN9 RAD21 SLC30A9 ZNF335 ZNF143 THAP11 ISM1 GC20P013112 GC20P013219 SPTLC3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ISM1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ISM1 gene promoter:

Genomic Locations for ISM1 Gene

Genomic Locations for ISM1 Gene
78,881 bases
Plus strand

Genomic View for ISM1 Gene

Genes around ISM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISM1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISM1 Gene

Proteins for ISM1 Gene

  • Protein details for ISM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q8WVH9

    Protein attributes for ISM1 Gene

    464 amino acids
    Molecular mass:
    52107 Da
    Quaternary structure:
    • Interacts with integrin ITGAV/ITGB5.
    • Sequence=CAC16127.3; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAC36074.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAX10318.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for ISM1 Gene

Post-translational modifications for ISM1 Gene

Other Protein References for ISM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ISM1 Gene

Domains & Families for ISM1 Gene

Gene Families for ISM1 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for ISM1 Gene

Suggested Antigen Peptide Sequences for ISM1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The C-terminal AMOP domain plays an important role in the anti-angiogenic function of ISM1.
  • Belongs to the isthmin family.
  • The C-terminal AMOP domain plays an important role in the anti-angiogenic function of ISM1.
  • Belongs to the isthmin family.
genes like me logo Genes that share domains with ISM1: view

Function for ISM1 Gene

Molecular function for ISM1 Gene

UniProtKB/Swiss-Prot Function:
Acts as an angiogenesis inhibitor.

Phenotypes From GWAS Catalog for ISM1 Gene

Phenotypes for ISM1 Gene

genes like me logo Genes that share phenotypes with ISM1: view

Animal Model Products

miRNA for ISM1 Gene

miRTarBase miRNAs that target ISM1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ISM1 Gene

Localization for ISM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISM1 Gene


Subcellular locations from

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 ISM1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
lysosome 1

Gene Ontology (GO) - Cellular Components for ISM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with ISM1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ISM1 Gene

Pathways & Interactions for ISM1 Gene

No Data Available

Interacting Proteins for ISM1 Gene

Selected Interacting proteins: B1AKI9-ISM1_HUMAN for ISM1 Gene via IID

Gene Ontology (GO) - Biological Process for ISM1 Gene


No data available for Pathways by source and SIGNOR curated interactions for ISM1 Gene

Drugs & Compounds for ISM1 Gene

No Compound Related Data Available

Transcripts for ISM1 Gene

mRNA/cDNA for ISM1 Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(28) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ISM1 Gene

Isthmin 1 homolog (zebrafish):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ISM1 Gene

No ASD Table

Relevant External Links for ISM1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ISM1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ISM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ISM1 Gene

This gene is overexpressed in Thyroid (x8.1), Artery - Tibial (x5.5), and Artery - Aorta (x4.6).

Protein differential expression in normal tissues from HIPED for ISM1 Gene

This gene is overexpressed in Cerebrospinal fluid (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ISM1 Gene

Protein tissue co-expression partners for ISM1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ISM1 Gene:


SOURCE GeneReport for Unigene cluster for ISM1 Gene:


Evidence on tissue expression from TISSUES for ISM1 Gene

  • Skin(4.1)
genes like me logo Genes that share expression patterns with ISM1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ISM1 Gene

Orthologs for ISM1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ISM1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ISM1 33 34
  • 99.6 (n)
(Canis familiaris)
Mammalia ISM1 33 34
  • 93.97 (n)
(Bos Taurus)
Mammalia C20ORF82 34
  • 93 (a)
ISM1 33
  • 90.66 (n)
(Rattus norvegicus)
Mammalia Ism1 33
  • 89.52 (n)
(Mus musculus)
Mammalia Ism1 33 16 34
  • 89.15 (n)
(Monodelphis domestica)
Mammalia ISM1 34
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia ISM1 34
  • 82 (a)
(Gallus gallus)
Aves ISM1 33 34
  • 74.74 (n)
(Anolis carolinensis)
Reptilia ISM1 34
  • 78 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487287 33
  • 71.93 (n)
African clawed frog
(Xenopus laevis)
Amphibia Ism 33
(Danio rerio)
Actinopterygii ism1 33 34
  • 67.77 (n)
Species where no ortholog for ISM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 ISM1 Gene

Gene Tree for ISM1 (if available)
Gene Tree for ISM1 (if available)

Paralogs for ISM1 Gene

Paralogs for ISM1 Gene

(1) SIMAP similar genes for ISM1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ISM1: view

Variants for ISM1 Gene

Sequence variations from dbSNP and Humsavar for ISM1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000007799 -- 13,294,674(+) C/G intron_variant
rs1000015159 -- 13,266,777(+) A/C intron_variant
rs1000092771 -- 13,260,687(+) G/A intron_variant
rs1000122756 -- 13,240,974(+) T/C intron_variant
rs1000133950 -- 13,295,858(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ISM1 Gene

Variant ID Type Subtype PubMed ID
nsv952987 CNV deletion 24416366
nsv518184 CNV gain 19592680
nsv476442 CNV novel sequence insertion 20440878
nsv1126590 CNV deletion 24896259
nsv1060853 CNV gain 25217958
nsv1058035 CNV loss 25217958
esv3893288 CNV gain 25118596
esv3584450 CNV loss 25503493
esv3584449 CNV loss 25503493
esv29075 CNV gain 19812545
esv27679 CNV loss 19812545
esv2722201 CNV deletion 23290073
dgv4247n100 CNV gain 25217958

Variation tolerance for ISM1 Gene

Residual Variation Intolerance Score: 73.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.24; 62.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ISM1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISM1 Gene

Disorders for ISM1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ISM1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search ISM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ISM1

genes like me logo Genes that share disorders with ISM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ISM1 Gene

Publications for ISM1 Gene

  1. Isthmin is a novel vascular permeability inducer that functions through cell-surface GRP78-mediated Src activation. (PMID: 25952901) Venugopal S … Ge R (Cardiovascular research 2015) 2 3 58
  2. Isthmin is a novel secreted angiogenesis inhibitor that inhibits tumour growth in mice. (PMID: 19874420) Xiang W … Ge R (Journal of cellular and molecular medicine 2011) 2 3 58
  3. Genome-wide association study reveals genetic risk underlying Parkinson's disease. (PMID: 19915575) Simón-Sánchez J … Gasser T (Nature genetics 2009) 3 44 58
  4. 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
  5. Isthmin is a novel secreted protein expressed as part of the Fgf-8 synexpression group in the Xenopus midbrain-hindbrain organizer. (PMID: 12128218) Pera EM … De Robertis EM (Mechanisms of development 2002) 3 4 58

Products for ISM1 Gene

Sources for ISM1 Gene

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