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Aliases for ISM2 Gene

Aliases for ISM2 Gene

  • Isthmin 2 2 3 5
  • Thrombospondin And AMOP Domain-Containing Isthmin-Like Protein 1 3 4
  • Thrombospondin And AMOP Containing Isthmin-Like 1 2 3
  • Thrombospondin Type-1 Domain-Containing Protein 3 3 4
  • Thrombospondin, Type I, Domain Containing 3 2 3
  • THSD3 3 4
  • TAIL1 3 4
  • Thrombospondin, Type I Domain-Containing 3 2
  • Isthmin 2 Homolog (Zebrafish) 2
  • Isthmin 2 Homolog 3
  • Isthmin-2 3

External Ids for ISM2 Gene

Previous HGNC Symbols for ISM2 Gene

  • THSD3

Previous GeneCards Identifiers for ISM2 Gene

  • GC14M077011
  • GC14M077940
  • GC14M058106

Summaries for ISM2 Gene

Entrez Gene Summary for ISM2 Gene

  • The protein encoded by this gene contains a type 1 thrombospondin domain, which is present in thrombospondin, a number of proteins involved in the complement pathway, as well as in extracellular matrix proteins. Two alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Mar 2009]

GeneCards Summary for ISM2 Gene

ISM2 (Isthmin 2) is a Protein Coding gene. Diseases associated with ISM2 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 1. An important paralog of this gene is ISM1.

Additional gene information for ISM2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISM2 Gene

Genomics for ISM2 Gene

GeneHancer (GH) Regulatory Elements for ISM2 Gene

Promoters and enhancers for ISM2 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
GH14I077498 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 556.4 -0.2 -168 0.5 ELF3 ARID4B ZNF48 RARA GLIS2 THAP11 SP5 MXD4 SSRP1 KLF16 ISM2 VIPAS39 GC14M077506
GH14I077507 Enhancer 0.7 ENCODE 8.8 -9.6 -9625 1.7 ELF3 SOX13 SAP130 CEBPG RARA TEAD3 ZNF121 HOMEZ THAP11 NFE2L2 GC14M077506 VIPAS39 AHSA1 SAMD15 TMED8 ISM2 RN7SL587P SPTLC2
GH14I077541 Enhancer 1 Ensembl ENCODE dbSUPER 6 -44.4 -44431 3.4 HDGF FOXA2 CBFA2T3 FEZF1 ATF2 TCF12 ZFHX2 PRDM6 IKZF1 HMBOX1 TMED8 VIPAS39 AHSA1 SAMD15 SPTLC2 ISM2 RN7SL587P GC14M077506
GH14I077502 Enhancer 0.8 ENCODE 6.8 -3.4 -3426 0.2 ELF3 FOXA2 MLX ARID4B DMAP1 RARA SLC30A9 CREM PPARG KAT8 SAMD15 TMED8 NGB ISM2 VIPAS39 GC14M077506
GH14I077528 Enhancer 0.5 ENCODE 6.1 -30.5 -30546 1.1 PRDM6 SOX6 KDM1A CEBPG TCF7L2 SPTLC2 ISM2 TMED8 GSTZ1 RN7SL587P GC14M077506
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ISM2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ISM2 gene promoter:

Genomic Locations for ISM2 Gene

Genomic Locations for ISM2 Gene
chr14:77,474,394-77,498,867
(GRCh38/hg38)
Size:
24,474 bases
Orientation:
Minus strand
chr14:77,940,737-77,965,210
(GRCh37/hg19)

Genomic View for ISM2 Gene

Genes around ISM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISM2 Gene

Proteins for ISM2 Gene

  • Protein details for ISM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6H9L7-ISM2_HUMAN
    Recommended name:
    Isthmin-2
    Protein Accession:
    Q6H9L7
    Secondary Accessions:
    • A8K6D5
    • O95432
    • Q495U5
    • Q68CN3
    • Q86TQ7
    • Q86TW3
    • Q86TW4
    • Q8N501
    • Q8NBL0

    Protein attributes for ISM2 Gene

    Size:
    571 amino acids
    Molecular mass:
    63906 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD09622.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAD62605.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAD66577.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW81296.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ISM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ISM2 Gene

Post-translational modifications for ISM2 Gene

  • Glycosylation at posLast=117117, posLast=200200, posLast=300300, and isoforms=3, 5392

Other Protein References for ISM2 Gene

No data available for DME Specific Peptides for ISM2 Gene

Domains & Families for ISM2 Gene

Gene Families for ISM2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for ISM2 Gene

Suggested Antigen Peptide Sequences for ISM2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6H9L7

UniProtKB/Swiss-Prot:

ISM2_HUMAN :
  • Belongs to the isthmin family.
Family:
  • Belongs to the isthmin family.
genes like me logo Genes that share domains with ISM2: view

Function for ISM2 Gene

Phenotypes From GWAS Catalog for ISM2 Gene

genes like me logo Genes that share phenotypes with ISM2: view

Animal Model Products

CRISPR Products

miRNA for ISM2 Gene

miRTarBase miRNAs that target ISM2

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ISM2 Gene

Localization for ISM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISM2 Gene

Secreted.

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 ISM2 gene
Compartment Confidence
extracellular 4
plasma membrane 2
cytoskeleton 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ISM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with ISM2: view

Pathways & Interactions for ISM2 Gene

No Data Available

Interacting Proteins for ISM2 Gene

Selected Interacting proteins: Q6H9L7-ISM2_HUMAN for ISM2 Gene via IID

Symbol External ID(s) Details
APPBP2
MZF1

Gene Ontology (GO) - Biological Process for ISM2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ISM2 Gene

Drugs & Compounds for ISM2 Gene

No Compound Related Data Available

Transcripts for ISM2 Gene

Unigene Clusters for ISM2 Gene

Isthmin 2 homolog (zebrafish):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ISM2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
SP1: - -
SP2: - - - -
SP3: - - - - -
SP4:
SP5: - -
SP6:
SP7: -

Relevant External Links for ISM2 Gene

GeneLoc Exon Structure for
ISM2
ECgene alternative splicing isoforms for
ISM2

Expression for ISM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ISM2 Gene

mRNA differential expression in normal tissues according to GTEx for ISM2 Gene

This gene is overexpressed in Prostate (x6.3), Brain - Nucleus accumbens (basal ganglia) (x6.1), and Testis (x5.1).

Protein differential expression in normal tissues from HIPED for ISM2 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ISM2 Gene



Protein tissue co-expression partners for ISM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ISM2 Gene:

ISM2

SOURCE GeneReport for Unigene cluster for ISM2 Gene:

Hs.29742

mRNA Expression by UniProt/SwissProt for ISM2 Gene:

Q6H9L7-ISM2_HUMAN
Tissue specificity: Expressed at high levels in the placenta and at moderate levels in the pancreas, kidney, heart, liver, lung, brain and skeletal muscle.

Evidence on tissue expression from TISSUES for ISM2 Gene

  • Heart(4.1)
genes like me logo Genes that share expression patterns with ISM2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ISM2 Gene

Orthologs for ISM2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ISM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ISM2 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 83 (a)
OneToMany
-- 34
  • 49 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ISM2 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ism2 34
  • 63 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ISM2 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISM2 34
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISM2 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5105 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15201 33
zebrafish
(Danio rerio)
Actinopterygii ism2b 33 34
  • 60.56 (n)
ISM2 (2 of 2) 34
  • 43 (a)
OneToMany
Species where no ortholog for ISM2 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 ISM2 Gene

ENSEMBL:
Gene Tree for ISM2 (if available)
TreeFam:
Gene Tree for ISM2 (if available)

Paralogs for ISM2 Gene

Paralogs for ISM2 Gene

(1) SIMAP similar genes for ISM2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ISM2: view

Variants for ISM2 Gene

Sequence variations from dbSNP and Humsavar for ISM2 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000075705 -- 77,480,865(-) A/C intron_variant
rs1000086317 -- 77,480,968(-) C/T intron_variant
rs1000115658 -- 77,487,290(-) A/G intron_variant
rs1000126243 -- 77,481,061(-) C/T intron_variant
rs1000333108 -- 77,475,232(-) C/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for ISM2 Gene

Variant ID Type Subtype PubMed ID
esv3635005 CNV loss 21293372
esv3635006 CNV loss 21293372
nsv832835 CNV gain 17160897

Variation tolerance for ISM2 Gene

Residual Variation Intolerance Score: 96.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.80; 58.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ISM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISM2 Gene

Disorders for ISM2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ISM2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search ISM2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ISM2

genes like me logo Genes that share disorders with ISM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ISM2 Gene

Publications for ISM2 Gene

  1. TAIL1: an isthmin-like gene, containing type 1 thrombospondin-repeat and AMOP domain, mapped to ARVD1 critical region. (PMID: 15194193) Rossi V … Danieli GA (Gene 2004) 2 3 4 22 58
  2. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 58
  5. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 58

Products for ISM2 Gene

Sources for ISM2 Gene

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