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Aliases for ISM2 Gene

Aliases for ISM2 Gene

  • Isthmin 2 2 3
  • THSD3 3 4 6
  • TAIL1 3 4 6
  • 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
  • Isthmin 2 Homolog (Zebrafish) 2
  • Isthmin 2 Homolog 3
  • Isthmin-2 3

External Ids for ISM2 Gene

Previous Symbols for ISM2 Gene

  • THSD3

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

Genomic Location for ISM2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ISM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISM2 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn117, Thr200, Ser202, Thr203, Thr211, Asn300, and Asn392

Other Protein References for ISM2 Gene

No data available for DME Specific Peptides for ISM2 Gene

Domains for ISM2 Gene

Protein Domains for ISM2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

ISM2_HUMAN
Domain:
  • Contains 1 AMOP domain.:
    • Q6H9L7
  • Contains 1 TSP type-1 domain.:
    • Q6H9L7
Family:
  • Belongs to the isthmin family.:
    • Q6H9L7
genes like me logo Genes that share domains with ISM2: view

No data available for Gene Families for ISM2 Gene

Function for ISM2 Gene

Phenotypes for ISM2 Gene

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

miRNA for ISM2 Gene

miRTarBase miRNAs that target ISM2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting 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
nucleus 4
extracellular 3
plasma membrane 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1

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 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 for ISM2 Gene

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 expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Prostate (6.3), Brain - Nucleus accumbens (basal ganglia) (6.1), and Testis (5.1).

Integrated Proteomics: protein expression 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 expressions with ISM2: view

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 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ISM2 37
  • 54 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 83 (a)
OneToMany
-- 37
  • 49 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ism2 16
Ism2 37
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ISM2 37
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISM2 37
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISM2 37
  • 50 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15201 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5105 36
zebrafish
(Danio rerio)
Actinopterygii ISM2 (2 of 2) 37
  • 43 (a)
OneToMany
ism2b 36
  • 60.56 (n)
  • 51.55 (a)
ism2b 37
  • 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

Selected 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 MAF
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
rs741853 -- 77,483,544(-) TTGAG(A/T)TGGAG intron-variant
rs760258 -- 77,483,780(+) AAACT(A/G)TAGCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832835 CNV Gain 17160897

Relevant External Links for ISM2 Gene

HapMap Linkage Disequilibrium report
ISM2

Disorders for ISM2 Gene

(1) University of Copenhagen DISEASES for ISM2 Gene

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

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. 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 4
  4. 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
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3

Products for ISM2 Gene

Sources for ISM2 Gene

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