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

2006-10-01  

Identity

HGNC
OBSCN
LOCATION
1q42.13
LOCUSID
84033
ALIAS
ARHGEF30,UNC89
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
381274652024Essential role of obscurin kinase-1 in cardiomyocyte coupling via N-cadherin phosphorylation.0
381594592024Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis.0
381274652024Essential role of obscurin kinase-1 in cardiomyocyte coupling via N-cadherin phosphorylation.0
381594592024Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis.0
348265482022Giant obscurin regulates migration and metastasis via RhoA-dependent cytoskeletal remodeling in pancreatic cancer.6
349574892022Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.4
348265482022Giant obscurin regulates migration and metastasis via RhoA-dependent cytoskeletal remodeling in pancreatic cancer.6
349574892022Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.4
334380372021When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability.12
346018922021Truncating Variants in OBSCN Gene Associated With Disease-Onset and Outcomes of Hypertrophic Cardiomyopathy.3
334380372021When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability.12
346018922021Truncating Variants in OBSCN Gene Associated With Disease-Onset and Outcomes of Hypertrophic Cardiomyopathy.3
330422792020Intracellular calcium current disorder and disease phenotype in OBSCN mutant iPSC-based cardiomyocytes in arrhythmogenic right ventricular cardiomyopathy.17
330422792020Intracellular calcium current disorder and disease phenotype in OBSCN mutant iPSC-based cardiomyocytes in arrhythmogenic right ventricular cardiomyopathy.17
306667462019Obscurin is a semi-flexible molecule in solution.1

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