Human Gene ISM2 (ENST00000342219.9) from GENCODE V44
  Description: Homo sapiens isthmin 2 (ISM2), transcript variant 1, mRNA. (from RefSeq NM_199296)
RefSeq Summary (NM_199296): 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].
Gencode Transcript: ENST00000342219.9
Gencode Gene: ENSG00000100593.18
Transcript (Including UTRs)
   Position: hg38 chr14:77,474,394-77,498,816 Size: 24,423 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr14:77,475,595-77,498,793 Size: 23,199 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:77,474,394-77,498,816)mRNA (may differ from genome)Protein (571 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ISM2_HUMAN
DESCRIPTION: RecName: Full=Isthmin-2; AltName: Full=Thrombospondin and AMOP domain-containing isthmin-like protein 1; AltName: Full=Thrombospondin type-1 domain-containing protein 3; Flags: Precursor;
SUBCELLULAR LOCATION: Secreted (Potential).
TISSUE SPECIFICITY: Expressed at high levels in the placenta and at moderate levels in the pancreas, kidney, heart, liver, lung, brain and skeletal muscle.
SIMILARITY: Belongs to the isthmin family.
SIMILARITY: Contains 1 AMOP domain.
SIMILARITY: Contains 1 TSP type-1 domain.
SEQUENCE CAUTION: Sequence=AAD09622.1; Type=Erroneous gene model prediction; Sequence=CAD62605.1; Type=Erroneous initiation; Sequence=CAD66577.1; Type=Erroneous initiation; Sequence=EAW81296.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ISM2
Diseases sorted by gene-association score: arrhythmogenic right ventricular dysplasia 1 (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.59 RPKM in Testis
Total median expression: 9.67 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.3023-0.187 Picture PostScript Text
3' UTR -519.001201-0.432 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005533 - AMOP
IPR000884 - Thrombospondin_1_rpt

Pfam Domains:
PF03782 - AMOP domain
PF00090 - Thrombospondin type 1 domain

ModBase Predicted Comparative 3D Structure on Q6H9L7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Cellular Component:
GO:0005576 extracellular region


-  Descriptions from all associated GenBank mRNAs
  BC033140 - Homo sapiens isthmin 2 homolog (zebrafish), mRNA (cDNA clone IMAGE:3844836), partial cds.
CR749863 - Homo sapiens mRNA; cDNA DKFZp686E0215 (from clone DKFZp686E0215).
AK056709 - Homo sapiens cDNA FLJ32147 fis, clone PLACE5000116, highly similar to Homo sapiens thrombospondin, type I, domain containing 3 (THSD3), transcript variant 1, mRNA.
AJ583024 - Homo sapiens mRNA for Tail1 protein.
AK075445 - Homo sapiens cDNA PSEC0137 fis, clone PLACE1005047.
JD174962 - Sequence 155986 from Patent EP1572962.
JD350425 - Sequence 331449 from Patent EP1572962.
JD393252 - Sequence 374276 from Patent EP1572962.
JD519696 - Sequence 500720 from Patent EP1572962.
JD133396 - Sequence 114420 from Patent EP1572962.
JD279976 - Sequence 261000 from Patent EP1572962.
JD292904 - Sequence 273928 from Patent EP1572962.
JD389530 - Sequence 370554 from Patent EP1572962.
JD226801 - Sequence 207825 from Patent EP1572962.
JD527260 - Sequence 508284 from Patent EP1572962.
JD338607 - Sequence 319631 from Patent EP1572962.
JD533977 - Sequence 515001 from Patent EP1572962.
JD156848 - Sequence 137872 from Patent EP1572962.
JD383066 - Sequence 364090 from Patent EP1572962.
AK300214 - Homo sapiens cDNA FLJ57589 complete cds, highly similar to Homo sapiens thrombospondin, type I, domain containing 3 (THSD3), transcript variant 1, mRNA.
JD549510 - Sequence 530534 from Patent EP1572962.
BC101022 - Homo sapiens isthmin 2 homolog (zebrafish), mRNA (cDNA clone MGC:119417 IMAGE:40007147), complete cds.
BC101019 - Homo sapiens isthmin 2 homolog (zebrafish), mRNA (cDNA clone MGC:119414 IMAGE:40007143), complete cds.
BC101020 - Homo sapiens isthmin 2 homolog (zebrafish), mRNA (cDNA clone MGC:119415 IMAGE:40007145), complete cds.
BC101021 - Homo sapiens isthmin 2 homolog (zebrafish), mRNA (cDNA clone MGC:119416 IMAGE:40007146), complete cds.
JD254151 - Sequence 235175 from Patent EP1572962.
JD381363 - Sequence 362387 from Patent EP1572962.
JD537095 - Sequence 518119 from Patent EP1572962.
JD220710 - Sequence 201734 from Patent EP1572962.
JD343807 - Sequence 324831 from Patent EP1572962.
AK291600 - Homo sapiens cDNA FLJ77702 complete cds.
JD435845 - Sequence 416869 from Patent EP1572962.
JD062108 - Sequence 43132 from Patent EP1572962.
JD535850 - Sequence 516874 from Patent EP1572962.
KJ900229 - Synthetic construct Homo sapiens clone ccsbBroadEn_09623 ISM2 gene, encodes complete protein.
JD458621 - Sequence 439645 from Patent EP1572962.
JD407250 - Sequence 388274 from Patent EP1572962.
BX248280 - human full-length cDNA clone CS0DI024YA19 of Placenta of Homo sapiens (human).
BX248277 - human full-length cDNA clone CS0DI014YN05 of Placenta of Homo sapiens (human).
BX248770 - human full-length cDNA 5-PRIME end of clone CS0DI033YJ09 of Placenta of Homo sapiens (human).
BX248771 - human full-length cDNA 5-PRIME end of clone CS0DI052YD12 of Placenta of Homo sapiens (human).

-  Other Names for This Gene
  Alternate Gene Symbols: A8K6D5, ENST00000342219.1, ENST00000342219.2, ENST00000342219.3, ENST00000342219.4, ENST00000342219.5, ENST00000342219.6, ENST00000342219.7, ENST00000342219.8, ISM2_HUMAN, NM_199296, O95432, PSEC0137, Q495U5, Q68CN3, Q6H9L7, Q86TQ7, Q86TW3, Q86TW4, Q8N501, Q8NBL0, TAIL1, THSD3, uc001xtz.1, uc001xtz.2, uc001xtz.3, uc001xtz.4, uc001xtz.5
UCSC ID: ENST00000342219.9
RefSeq Accession: NM_199296
Protein: Q6H9L7 (aka ISM2_HUMAN)
CCDS: CCDS9864.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.