Human Gene OBSCN (ENST00000680850.1) from GENCODE V38
  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 LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsOther NamesGeneReviewsMethods
Data last updated at UCSC: 2021-09-27 09:51:20

-  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 SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCMGI
PubMedWikipedia

-  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           more ... click here to view the complete list

-  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: 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.