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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
  • Thrombospondin, Type I Domain-Containing 3 2 3
  • THSD3 3 4
  • TAIL1 3 4
  • Isthmin 2 Homolog (Zebrafish) 2
  • Isthmin 2 Homolog 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. An important paralog of this gene is ISM1.

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

Genomics for ISM2 Gene

Regulatory Elements for ISM2 Gene

Enhancers for ISM2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ISM2 on UCSC Golden Path with GeneCards custom track

Promoters for ISM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ISM2 on UCSC Golden Path with GeneCards custom track

Genomic Location for ISM2 Gene

Chromosome:
14
Start:
77,474,394 bp from pter
End:
77,498,867 bp from pter
Size:
24,474 bases
Orientation:
Minus strand

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

Proteomics data for ISM2 Gene at MOPED

Post-translational modifications for ISM2 Gene

  • Glycosylation at Asn 117, Thr 200, Asn 300, and Asn 392
  • Modification sites at PhosphoSitePlus

Other Protein References for ISM2 Gene

No data available for DME Specific Peptides for ISM2 Gene

Domains & Families for ISM2 Gene

Protein Domains for ISM2 Gene

InterPro:
ProtoNet:

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 :
  • Contains 1 AMOP domain.
  • Belongs to the isthmin family.
Domain:
  • Contains 1 AMOP domain.
  • Contains 1 TSP type-1 domain.
Family:
  • Belongs to the isthmin family.
genes like me logo Genes that share domains with ISM2: view

No data available for Gene Families for ISM2 Gene

Function for ISM2 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for ISM2

miRNA for ISM2 Gene

miRTarBase miRNAs that target ISM2

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
Jensen Localization Image for ISM2 Gene COMPARTMENTS Subcellular localization image for ISM2 gene
Compartment Confidence
extracellular 4
cytoskeleton 2
cytosol 2
nucleus 2
plasma membrane 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for ISM2 Gene

Pathways & Interactions for ISM2 Gene

SuperPathways for ISM2 Gene

No Data Available

Interacting Proteins for ISM2 Gene

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:

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 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



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.
genes like me logo Genes that share expression patterns with ISM2: view

Protein tissue co-expression partners for ISM2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
cow
(Bos Taurus)
Mammalia ISM2 36
  • 54 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 49 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ISM2 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ism2 36
  • 63 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ISM2 36
  • 97 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISM2 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISM2 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5105 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15201 35
zebrafish
(Danio rerio)
Actinopterygii ism2b 35
  • 60.56 (n)
  • 51.55 (a)
ISM2 (2 of 2) 36
  • 43 (a)
OneToMany
ism2b 36
  • 43 (a)
OneToMany
Species with no ortholog for ISM2:
  • 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 Sequence Context AA Info Type
rs3742728 - 77,484,781(-) GCAAC(A/G)CCACC reference, missense
rs11850175 - 77,484,553(+) ATCTG(C/G)GGAGG reference, missense
rs8135 -- 77,474,517(-) GAAAT(A/G)TTGAA utr-variant-3-prime
rs729998 -- 77,482,864(+) GGAGG(G/T)GCATT intron-variant
rs741851 -- 77,475,103(+) CACCC(A/G)GGCTG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
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)

Relevant External Links for ISM2 Gene

HapMap Linkage Disequilibrium report
ISM2

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

Disorders for ISM2 Gene

Relevant External Links for ISM2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ISM2

No disorders were found for ISM2 Gene.

No data available for MalaCards , 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 G.A. (Gene 2004) 2 3 4 23 67
  2. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. 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 Res. 2005) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for ISM2 Gene

Sources for ISM2 Gene

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