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Aliases for OBSCN Gene

Aliases for OBSCN Gene

  • Obscurin, Cytoskeletal Calmodulin And Titin-Interacting RhoGEF 2 3 5
  • Obscurin-MLCK 3 4
  • Obscurin, Myosin Light Chain Kinase 3
  • Obscurin-Myosin Light Chain Kinase 4
  • Obscurin-RhoGEF 4
  • EC 2.7.11.1 4
  • ARHGEF30 3
  • Obscurin 3
  • KIAA1556 4
  • KIAA1639 4
  • UNC89 3

External Ids for OBSCN Gene

Previous GeneCards Identifiers for OBSCN Gene

  • GC01P226893
  • GC01M224138
  • GC01P224855
  • GC01P225370
  • GC01P224702
  • GC01P226462
  • GC01P228395
  • GC01P198910

Summaries for OBSCN Gene

Entrez Gene Summary for OBSCN Gene

  • 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]

GeneCards Summary for OBSCN Gene

OBSCN (Obscurin, Cytoskeletal Calmodulin And Titin-Interacting RhoGEF) is a Protein Coding gene. Diseases associated with OBSCN include Muscular Dystrophy, Limb-Girdle, Type 2J and Fibromuscular Dysplasia. Among its related pathways are p75 NTR receptor-mediated signalling and RET signaling. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TTN.

UniProtKB/Swiss-Prot for OBSCN Gene

  • Structural component of striated muscles which plays a role in myofibrillogenesis. Probably involved in the assembly of myosin into sarcomeric A bands in striated muscle (PubMed:11448995, PubMed:16205939). Has serine/threonine protein kinase activity and phosphorylates N-cadherin CDH2 and sodium/potassium-transporting ATPase subunit ATP1B1 (By similarity).

Gene Wiki entry for OBSCN Gene

Additional gene information for OBSCN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OBSCN Gene

Genomics for OBSCN Gene

Regulatory Elements for OBSCN Gene

Enhancers for OBSCN 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
GH01H228226 1.2 Ensembl ENCODE dbSUPER 58.6 +20.1 20148 3 CTCF FOXA2 ZNF384 CEBPG RAD21 ZIC2 ZNF121 GATA3 FOS MAFK OBSCN TRIM11 ENSG00000231563 GC01P228217 ENSG00000269890
GH01H228137 1.4 ENCODE dbSUPER 49.8 -66.0 -66008 8 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 ZNF548 OBSCN CICP26 ENSG00000269890 CDC42BPA ZNF678 OBSCN-AS1 C1orf35 FAM96AP2 MRPL55 JMJD4
GH01H228161 1.8 FANTOM5 ENCODE dbSUPER 38.7 -43.5 -43490 6 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B OBSCN CICP26 PRSS38 ENSG00000269890 LOC100421842 LOC100126822 C1orf35 IBA57 HIST3H3 LOC100418874
GH01H228205 1.3 FANTOM5 ENCODE dbSUPER 41.9 +0.3 308 6 STAT1 MAZ ZIC2 SMARCB1 ZFP69B GLIS2 GATA2 POLR2A ZNF692 ZNF341 OBSCN RNF187 TRIM17 GJC2 OBSCN-AS1
GH01H228212 1.3 ENCODE dbSUPER 38.8 +6.9 6911 4 ATF1 ZNF133 ARID4B SIN3A YBX1 GLI4 ZNF2 ETS1 CBX5 ZNF143 OBSCN ZNF678 C1orf35 CICP26 RPL23AP15 HIST3H2A HIST3H2BB HIST3H3 ENSG00000269890 OBSCN-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OBSCN on UCSC Golden Path with GeneCards custom track

Genomic Location for OBSCN Gene

Chromosome:
1
Start:
228,208,072 bp from pter
End:
228,378,876 bp from pter
Size:
170,805 bases
Orientation:
Plus strand

Genomic View for OBSCN Gene

Genes around OBSCN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OBSCN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OBSCN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OBSCN Gene

Proteins for OBSCN Gene

  • Protein details for OBSCN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VST9-OBSCN_HUMAN
    Recommended name:
    Obscurin
    Protein Accession:
    Q5VST9
    Secondary Accessions:
    • Q2A664
    • Q5T7G8
    • Q5T7G9
    • Q5VSU2
    • Q86YC7
    • Q8NHN0
    • Q8NHN1
    • Q8NHN2
    • Q8NHN3
    • Q8NHN4
    • Q8NHN5
    • Q8NHN6
    • Q8NHN7
    • Q8NHN8
    • Q8NHN9
    • Q96AA2
    • Q9HCD3
    • Q9HCL6

    Protein attributes for OBSCN Gene

    Size:
    7968 amino acids
    Molecular mass:
    868484 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts (via protein kinase domain 2) with CDH2 and (via protein kinase domain 1) with ATP1B1 (By similarity). Isoform 3 interacts with TTN/titin and calmodulin (PubMed:11448995, PubMed:11717165). Isoform 3 interacts with ANK1 isoform Mu17/ank1.5 (PubMed:12527750).
    SequenceCaution:
    • Sequence=CAC85746.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAC85749.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAC85750.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH71670.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI19283.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI19284.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for OBSCN Gene

    Alternative splice isoforms for OBSCN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OBSCN Gene

Post-translational modifications for OBSCN Gene

No data available for DME Specific Peptides for OBSCN Gene

Domains & Families for OBSCN Gene

Gene Families for OBSCN Gene

Graphical View of Domain Structure for InterPro Entry

Q5VST9

UniProtKB/Swiss-Prot:

OBSCN_HUMAN :
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
Family:
  • Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.
genes like me logo Genes that share domains with OBSCN: view

Function for OBSCN Gene

Molecular function for OBSCN Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot Function:
Structural component of striated muscles which plays a role in myofibrillogenesis. Probably involved in the assembly of myosin into sarcomeric A bands in striated muscle (PubMed:11448995, PubMed:16205939). Has serine/threonine protein kinase activity and phosphorylates N-cadherin CDH2 and sodium/potassium-transporting ATPase subunit ATP1B1 (By similarity).

Enzyme Numbers (IUBMB) for OBSCN Gene

Phenotypes From GWAS Catalog for OBSCN Gene

Gene Ontology (GO) - Molecular Function for OBSCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005085 guanyl-nucleotide exchange factor activity TAS --
GO:0005089 Rho guanyl-nucleotide exchange factor activity TAS,IEA --
GO:0005515 protein binding IPI 11448995
genes like me logo Genes that share ontologies with OBSCN: view
genes like me logo Genes that share phenotypes with OBSCN: view

Animal Models for OBSCN Gene

MGI Knock Outs for OBSCN:

Animal Model Products

CRISPR Products

miRNA for OBSCN Gene

miRTarBase miRNAs that target OBSCN

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for OBSCN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OBSCN Gene

Localization for OBSCN Gene

Subcellular locations from UniProtKB/Swiss-Prot for OBSCN Gene

Isoform 3: Cytoplasm, myofibril, sarcomere, M line. Cytoplasm, myofibril, sarcomere, Z line. Note=In differentiating skeletal muscle cells, isoform 3 primarily localizes to the sarcomeric M-line and less frequently to the Z-disk (PubMed:12527750). Isoform 3 colocalizes with ANK1 isoform Mu17/ank1.5 at the M-line in differentiated skeletal muscle cells (PubMed:12527750).
Cytoplasm, myofibril, sarcomere, M line. Cytoplasm, myofibril, sarcomere, Z line. Cell membrane, sarcolemma. Nucleus. Note=Colocalizes with CDH2 and ATP1B1 to the sarcolemma and to intercalating disks in cardiac muscles. Colocalizes with ATP1B1 to M line and Z line in cardiac muscles. {ECO:0000250 UniProtKB:A2AAJ9}.

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 OBSCN gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
cytoskeleton 2
endoplasmic reticulum 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OBSCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IDA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with OBSCN: view

Pathways & Interactions for OBSCN Gene

genes like me logo Genes that share pathways with OBSCN: view

Gene Ontology (GO) - Biological Process for OBSCN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007275 multicellular organism development IEA --
GO:0016310 phosphorylation IEA --
GO:0030154 cell differentiation IEA --
GO:0035023 regulation of Rho protein signal transduction IEA --
genes like me logo Genes that share ontologies with OBSCN: view

No data available for SIGNOR curated interactions for OBSCN Gene

Drugs & Compounds for OBSCN Gene

(1) Drugs for OBSCN Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Nutra 0
genes like me logo Genes that share compounds with OBSCN: view

Transcripts for OBSCN Gene

Unigene Clusters for OBSCN Gene

Obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for OBSCN
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for OBSCN Gene

No ASD Table

Relevant External Links for OBSCN Gene

GeneLoc Exon Structure for
OBSCN
ECgene alternative splicing isoforms for
OBSCN

Expression for OBSCN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OBSCN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OBSCN Gene

This gene is overexpressed in Muscle - Skeletal (x29.0) and Heart - Left Ventricle (x5.6).

Protein differential expression in normal tissues from HIPED for OBSCN Gene

This gene is overexpressed in Heart (41.5) and Fetal heart (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for OBSCN Gene



NURSA nuclear receptor signaling pathways regulating expression of OBSCN Gene:

OBSCN

SOURCE GeneReport for Unigene cluster for OBSCN Gene:

Hs.656999

Evidence on tissue expression from TISSUES for OBSCN Gene

  • Heart(5)
  • Nervous system(4.2)
  • Muscle(3.8)
genes like me logo Genes that share expression patterns with OBSCN: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for OBSCN Gene

Orthologs for OBSCN Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for OBSCN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OBSCN 33
  • 83.9 (n)
dog
(Canis familiaris)
Mammalia OBSCN 34
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Obscn 33
  • 70.42 (n)
mouse
(Mus musculus)
Mammalia Obscn 33 16 34
  • 65.77 (n)
cow
(Bos Taurus)
Mammalia MGC166429 34
  • 60 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia OBSCN 34
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 31 (a)
ManyToMany
chicken
(Gallus gallus)
Aves OBSCN 33 34
  • 53.54 (n)
lizard
(Anolis carolinensis)
Reptilia OBSCN 34
  • 46 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101730564 33
  • 52.56 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC572412 33
  • 49.33 (n)
obscn 34
  • 37 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea unc-22 34
  • 8 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MEK1 34
  • 28 (a)
OneToMany
Species where no ortholog for OBSCN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for OBSCN Gene

ENSEMBL:
Gene Tree for OBSCN (if available)
TreeFam:
Gene Tree for OBSCN (if available)

Paralogs for OBSCN Gene

Variants for OBSCN Gene

Sequence variations from dbSNP and Humsavar for OBSCN Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs199865640 A colorectal cancer sample 228,317,575(+) CTACC(A/G/T)CGTGG nc-transcript-variant, reference, missense
rs539154039 A colorectal cancer sample 228,306,922(+) CCTCC(A/G)AGAGC nc-transcript-variant, reference, missense
rs545316651 A colorectal cancer sample 228,274,676(+) CAGTC(A/G)TGTGG nc-transcript-variant, reference, missense
rs570805670 A breast cancer sample 228,319,181(+) GTCCC(A/G)GGCAG nc-transcript-variant, reference, missense
rs750681123 A colorectal cancer sample 228,274,007(+) CTGCC(A/C/G)TGTGG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for OBSCN Gene

Variant ID Type Subtype PubMed ID
dgv102e199 CNV deletion 23128226
dgv840n54 CNV loss 21841781
esv2659508 CNV deletion 23128226
esv2659533 CNV deletion 23128226
esv2724284 CNV deletion 23290073
esv2724295 CNV deletion 23290073
esv32853 CNV gain 17666407
esv3443546 CNV duplication 20981092
esv3547833 CNV deletion 23714750
esv3589048 CNV loss 21293372
esv3589049 CNV loss 21293372
esv3589050 CNV loss 21293372
esv995050 CNV deletion 20482838
nsv1013500 CNV gain 25217958
nsv1069355 CNV deletion 25765185
nsv1075808 CNV duplication 25765185
nsv1143478 CNV deletion 24896259
nsv1146567 CNV duplication 26484159
nsv1147376 CNV duplication 26484159
nsv1160102 CNV deletion 26073780
nsv470780 CNV loss 18288195
nsv474639 CNV novel sequence insertion 20440878
nsv508697 CNV deletion 20534489
nsv517545 CNV loss 19592680
nsv520340 CNV gain 19592680
nsv523935 CNV loss 19592680
nsv549292 CNV loss 21841781
nsv549295 CNV loss 21841781
nsv826908 CNV gain 20364138
nsv827019 CNV loss 20364138
nsv827064 CNV gain 20364138
nsv945350 CNV duplication 23825009
nsv945351 CNV duplication 23825009
nsv945352 CNV duplication 23825009
nsv952138 CNV deletion 24416366
nsv952139 CNV deletion 24416366
nsv952140 CNV deletion 24416366

Variation tolerance for OBSCN Gene

Residual Variation Intolerance Score: 100% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 35.92; 99.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OBSCN Gene

Human Gene Mutation Database (HGMD)
OBSCN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OBSCN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OBSCN Gene

Disorders for OBSCN Gene

MalaCards: The human disease database

(6) MalaCards diseases for OBSCN Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, limb-girdle, type 2j
  • autosomal recessive limb-girdle muscular dystrophy type 2j
fibromuscular dysplasia
  • fibromuscular dysplasia of arteries
cerebral arterial disease
  • cerebral arterial diseases
dilated cardiomyopathy
  • congestive cardiomyopathy
left ventricular noncompaction
  • left ventricular hypertrabeculation
- elite association - COSMIC cancer census association via MalaCards
Search OBSCN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OBSCN_HUMAN
  • Note=A chromosomal aberration involving OBSCN has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with PTHB1. {ECO:0000269 PubMed:12618763}.

Relevant External Links for OBSCN

Genetic Association Database (GAD)
OBSCN
Human Genome Epidemiology (HuGE) Navigator
OBSCN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OBSCN
genes like me logo Genes that share disorders with OBSCN: view

No data available for Genatlas for OBSCN Gene

Publications for OBSCN Gene

  1. Identification, tissue expression and chromosomal localization of human Obscurin-MLCK, a member of the titin and Dbl families of myosin light chain kinases. (PMID: 11814696) Russell MW … Sonneman KJ (Gene 2002) 2 3 4 22 60
  2. Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly. (PMID: 11448995) Young P … Gautel M (The Journal of cell biology 2001) 2 3 4 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Structural analysis of obscurin gene in hypertrophic cardiomyopathy. (PMID: 17716621) Arimura T … Kimura A (Biochemical and biophysical research communications 2007) 3 22 60
  5. Essential role of obscurin in cardiac myofibrillogenesis and hypertrophic response: evidence from small interfering RNA-mediated gene silencing. (PMID: 16205939) Borisov AB … Russell MW (Histochemistry and cell biology 2006) 3 4 60

Products for OBSCN Gene

Sources for OBSCN Gene

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