AutismKB 2.0

Annotation Details for OBSCN


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Basic Information Top
Gene Symbol:OBSCN ( ARHGEF30,DKFZp666E245,FLJ14124,KIAA1556,KIAA1639,MGC120409,MGC120410,MGC120411,MGC120412,MGC138590,UNC89 )
Gene Full Name: obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
Band: 1q42.13
Quick LinksEntrez ID:84033; OMIM: 608616; Uniprot ID:OBSCN_HUMAN; ENSEMBL ID: ENSG00000154358; HGNC ID: 15719
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829IDA-cytosol-
GO:0005829TAS-cytosol-
GO:0005886IDA-plasma membrane-
GO:0016604IDA-nuclear body-
GO:0030016NAS-myofibril11717165
GO:0030018ISS-Z disc11717165
GO:0031430ISS-M band11717165
GO:0042383IEA-sarcolemma-
GO ID Evidence Qualifier GO_term References
GO:0004674IEA-protein serine/threonine kinase activity-
GO:0005085TAS-guanyl-nucleotide exchange factor activity-
GO:0005089TAS-Rho guanyl-nucleotide exchange factor activity-
GO:0005515IPI-protein binding11448995
GO:0005516IEA-calmodulin binding-
GO:0005524IEA-ATP binding-
GO:0008307NAS-structural constituent of muscle11717165
GO:0030506IPI-ankyrin binding18782775
GO:0031432IPI-titin binding11717165
GO:0046872IEA-metal ion binding-
GO ID Evidence Qualifier GO_term References
GO:0006468IEA-protein phosphorylation-
GO:0007275IEA-multicellular organism development-
GO:0035023IEA-regulation of Rho protein signal transduction-
GO:0036309ISS-protein localization to M-band18782775
GO:0043065TAS-positive regulation of apoptotic process-
GO:0043547IEA-positive regulation of GTPase activity-
GO:0045214TAS-sarcomere organization18782775
GO:0051056TAS-regulation of small GTPase mediated signal transduction-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
OBSCNANK112384712631729 Reconstituted Complex; Two-hybrid
OBSCNANK110678312631729 Reconstituted Complex; Two-hybrid
OBSCNTTN11312411448995 Reconstituted Complex; Two-hybrid
OBSCNTTN12384711448995 Reconstituted Complex; Two-hybrid
OBSCNSUMO111318817549794 Affinity Capture-MS
OBSCNSUMO112384717549794 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-040812-4'