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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 1. An important paralog of this gene is ISM1.

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

Regulatory Elements for ISM2 Gene

Enhancers for ISM2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G077541 1.2 Ensembl ENCODE dbSUPER 6 -44.4 -44431 3.4 HDGF FOXA2 FEZF1 TBX21 ATF2 NR2F2 TCF12 ZFHX2 JUND PRDM6 TMED8 VIPAS39 AHSA1 SAMD15 SPTLC2 ISM2 RN7SL587P GC14M077506
GH14G077507 0.8 ENCODE 8.8 -9.6 -9626 1.7 ELF3 SOX13 SAP130 CEBPG RARA TEAD3 ZNF121 HOMEZ NFE2L2 THAP11 VIPAS39 AHSA1 SAMD15 TMED8 ISM2 GC14M077506 RN7SL587P
GH14G077498 0.9 ENCODE 6.3 -0.2 -169 0.5 ELF3 ARID4B ZNF48 RARA GLIS2 THAP11 SP5 MXD4 GATAD2B SSRP1 ISM2 VIPAS39 GC14M077506
GH14G077502 0.8 ENCODE 6.8 -3.4 -3426 0.2 ELF3 FOXA2 MLX ARID4B DMAP1 RARA SLC30A9 GATA4 CREM PPARG SAMD15 TMED8 NGB ISM2 VIPAS39 GC14M077506
GH14G077528 0.5 ENCODE 6.1 -30.5 -30547 1.1 PRDM6 ATF3 KDM1A CEBPG TCF7L2 SPTLC2 ISM2 TMED8 GSTZ1 RN7SL587P GC14M077506
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000071159 -33 201 ELF3 ARID4B ZNF48 RARA GLIS2 THAP11 SP5 MXD4 GATAD2B SSRP1

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

Post-translational modifications for ISM2 Gene

  • Glycosylation at isoforms=2, 5117, isoforms=3200, posLast=300300, and isoforms=3, 5392
  • 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

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

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

CRISPR Products

miRNA for ISM2 Gene

miRTarBase miRNAs that target ISM2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for 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
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

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

Clone Products

  • Applied Biological Materials Clones for ISM2

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 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 35
  • 83 (a)
OneToMany
-- 35
  • 49 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ISM2 35
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ism2 35
  • 63 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ISM2 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves ISM2 35
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ISM2 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.5105 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15201 34
zebrafish
(Danio rerio)
Actinopterygii ism2b 34 35
  • 60.56 (n)
ISM2 (2 of 2) 35
  • 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 Sequence Context AA Info Type
rs1000075705 -- 77,480,865(+) TCATG(A/C)AAATT intron-variant
rs1000086317 -- 77,480,968(+) GGGCT(C/T)CAAGG intron-variant
rs1000115658 -- 77,487,290(+) AAAAG(A/G)AAAGA intron-variant
rs1000126243 -- 77,481,061(+) ATGGC(C/T)GGGCA intron-variant
rs1000333108 -- 77,475,232(+) AGCTG(C/G)TGGCT utr-variant-3-prime

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)

Relevant External Links 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

Disorder Aliases PubMed IDs
arrhythmogenic right ventricular dysplasia 1
  • arrhythmogenic right ventricular dysplasia, familial, 1
- elite association - COSMIC cancer census association via MalaCards
Search ISM2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ISM2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 G.A. (Gene 2004) 2 3 4 22 64
  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 Res. 2005) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3 64
  5. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4 64

Products for ISM2 Gene

Sources for ISM2 Gene

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