Human Gene OBSCN (ENST00000680850.1) from GENCODE V44
  Description: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (from HGNC OBSCN)
RefSeq Summary (NM_001271223): The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 720 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein belongs to the family of giant sacromeric signaling proteins that includes titin and nebulin, and may have a role in the organization of myofibrils during assembly and may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000680850.1
Gencode Gene: ENSG00000154358.23
Transcript (Including UTRs)
   Position: hg38 chr1:228,208,044-228,378,876 Size: 170,833 Total Exon Count: 116 Strand: +
Coding Region
   Position: hg38 chr1:228,211,784-228,378,795 Size: 167,012 Coding Exon Count: 115 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsOther NamesGeneReviews
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:228,208,044-228,378,876)mRNA (may differ from genome)Protein (8925 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
MalacardsMGIPubMedUniProtKBWikipedia

-  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: OBSCN
Diseases sorted by gene-association score: muscular dystrophy, limb-girdle, type 2j (8), fibromuscular dysplasia (6), cerebral arterial disease (4), dilated cardiomyopathy (1), left ventricular noncompaction (1), cardiomyopathy, familial hypertrophic (1)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 99.75 RPKM in Muscle - Skeletal
Total median expression: 244.45 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 -70.90160-0.443 Picture PostScript Text
3' UTR -28.2081-0.348 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.

-  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    

-  Descriptions from all associated GenBank mRNAs
  AJ002535 - Homo sapiens mRNA for obscurin (OBSCN gene).
AB046776 - Homo sapiens mRNA for KIAA1556 protein, partial cds.
AL832357 - Homo sapiens mRNA; cDNA DKFZp451F056 (from clone DKFZp451F056).
DQ576719 - Homo sapiens piRNA piR-44831, complete sequence.
AK024186 - Homo sapiens cDNA FLJ14124 fis, clone MAMMA1002498.
BC098118 - Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, mRNA (cDNA clone IMAGE:40024799), complete cds.
BC098262 - Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, mRNA (cDNA clone IMAGE:40024800), complete cds.
BC098292 - Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, mRNA (cDNA clone IMAGE:40024802), complete cds.
BC099731 - Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, mRNA (cDNA clone IMAGE:40024803), complete cds.
BC114382 - Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, mRNA (cDNA clone IMAGE:40024805), complete cds.
BC114461 - Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, mRNA (cDNA clone IMAGE:40024804), complete cds.
KJ903372 - Synthetic construct Homo sapiens clone ccsbBroadEn_12766 OBSCN gene, encodes complete protein.
BC043916 - Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF, mRNA (cDNA clone IMAGE:3845393), with apparent retained intron.
AK097489 - Homo sapiens cDNA FLJ40170 fis, clone TESTI2016848, weakly similar to H.sapiens mRNA for titin protein.
AL080128 - Homo sapiens mRNA; cDNA DKFZp434C153 (from clone DKFZp434C153).
AB046859 - Homo sapiens mRNA for KIAA1639 protein, partial cds.
AM231061 - Homo sapiens partial mRNA for obscurin isoform B (OBSCN gene).
DQ400343 - Homo sapiens obscurin isoform B (OBSCN) mRNA, partial cds, alternatively spliced.
JD388075 - Sequence 369099 from Patent EP1572962.
AL833724 - Homo sapiens mRNA; cDNA DKFZp666E245 (from clone DKFZp666E245).
JD216455 - Sequence 197479 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A7P0Z489, NM_001386125, uc289blj.1
UCSC ID: ENST00000680850.1
RefSeq Accession: NM_001271223

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene OBSCN:
hyper-card (Hypertrophic Cardiomyopathy Overview)

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