OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF)

2006-10-01  

Identity

HGNC
LOCATION
1q42.13
LOCUSID
ALIAS
ARHGEF30,UNC89
FUSION GENES

Other Information

Locus ID:

NCBI: 84033
MIM: 608616
HGNC: 15719
Ensembl: ENSG00000154358

Variants:

dbSNP: 84033
ClinVar: 84033
TCGA: ENSG00000154358
COSMIC: OBSCN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154358ENST00000284548Q5VST9
ENSG00000154358ENST00000366704A0A590UJ10
ENSG00000154358ENST00000366706A0A0A0MRI8
ENSG00000154358ENST00000366707A6NGQ3
ENSG00000154358ENST00000422127Q5VST9
ENSG00000154358ENST00000474237H3BPW6
ENSG00000154358ENST00000483539H3BQA7
ENSG00000154358ENST00000493977A0A590UK18
ENSG00000154358ENST00000570156A6NGQ3
ENSG00000154358ENST00000636476Q5VST9
ENSG00000154358ENST00000636476A0A1B0GTS2
ENSG00000154358ENST00000636875Q5VST9
ENSG00000154358ENST00000660857A0A590UJH9
ENSG00000154358ENST00000662438Q5VST9
ENSG00000154358ENST00000664353A0A590UJ65
ENSG00000154358ENST00000664561A0A590UJJ2
ENSG00000154358ENST00000664957A0A590UJ33
ENSG00000154358ENST00000665495A0A590UKA5
ENSG00000154358ENST00000668066A0A590UJD5
ENSG00000154358ENST00000668629A0A590UJV7
ENSG00000154358ENST00000668943A0A590UJD0

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signalling by NGFREACTOMER-HSA-166520
p75 NTR receptor-mediated signallingREACTOMER-HSA-193704
Cell death signalling via NRAGE, NRIF and NADEREACTOMER-HSA-204998
NRAGE signals death through JNKREACTOMER-HSA-193648
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (12/13) signalling eventsREACTOMER-HSA-416482

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
126317292003Obscurin is a ligand for small ankyrin 1 in skeletal muscle.79
173606602007Highly accurate two-gene classifier for differentiating gastrointestinal stromal tumors and leiomyosarcomas.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
166253162005Complete human gene structure of obscurin: implications for isoform generation by differential splicing.39
177166212007Structural analysis of obscurin gene in hypertrophic cardiomyopathy.38
264063082015OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.32
177209752007Mapping the binding site on small ankyrin 1 for obscurin.30
225738872012Obscurin and KCTD6 regulate cullin-dependent small ankyrin-1 (sAnk1.5) protein turnover.27
183503082008New aspects of obscurin in human striated muscles.21
253818172015Loss of giant obscurins from breast epithelium promotes epithelial-to-mesenchymal transition, tumorigenicity and metastasis.20

Citation

Dessen P

OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43385/obscn