Human Gene OBSCN (uc001hsr.1)
  Description: Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.
RefSeq Summary (NM_001098623): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:228,522,516-228,566,575 Size: 44,060 Total Exon Count: 45 Strand: +
Coding Region
   Position: hg19 chr1:228,522,545-228,566,496 Size: 43,952 Coding Exon Count: 45 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:228,522,516-228,566,575)mRNA (may differ from genome)Protein (2597 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCLynxMalacardsMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): OBSCN
CDC HuGE Published Literature: OBSCN
Positive Disease Associations: Macular Degeneration
Related Studies:
  1. Macular Degeneration
    , , . [PubMed 0]

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.9029-0.169 Picture PostScript Text
3' UTR -30.9079-0.391 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
IPR000219 - DH-domain
IPR003961 - Fibronectin_type3
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2
IPR011009 - Kinase-like_dom
IPR020675 - Myosin_light_ch_kinase-rel
IPR020682 - Obscurin-myosin_light-ch_kin
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR002290 - Ser/Thr_dual-sp_kinase_dom
IPR008271 - Ser/Thr_kinase_AS
IPR001452 - SH3_domain
IPR008266 - Tyr_kinase_AS

Pfam Domains:
PF00047 - Immunoglobulin domain
PF00069 - Protein kinase domain
PF00169 - PH domain
PF00621 - RhoGEF domain
PF07679 - Immunoglobulin I-set domain
PF07714 - Protein tyrosine kinase
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48065 - DBL homology domain (DH-domain)
48726 - Immunoglobulin
49265 - Fibronectin type III
50044 - SH3-domain
50729 - PH domain-like
56112 - Protein kinase-like (PK-like)

ModBase Predicted Comparative 3D Structure on A2A391
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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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AJ002535 - Homo sapiens mRNA for obscurin (OBSCN gene).
AL832357 - Homo sapiens mRNA; cDNA DKFZp451F056 (from clone DKFZp451F056).
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: A2A391, A2A391_HUMAN, AB046859, NM_001098623, NP_001092093, RP5-1139B12.1-010
UCSC ID: uc001hsr.1
RefSeq Accession: NM_001098623
Protein: A2A391

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

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AB046859.2
exon count: 45CDS single in 3' UTR: no RNA size: 7835
ORF size: 7794CDS single in intron: no Alignment % ID: 99.95
txCdsPredict score: 15394.50frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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