Gene

obscna

ID

ZDB-GENE-040812-4

Name

obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF a

Symbol

obscna Nomenclature History

Previous Names

obscn
obscurin-MLCK (1)

Type

protein_coding_gene

Location

Chr: 8 Mapping Details/Browsers

Description

Predicted to have protein kinase activity. Predicted to be involved in muscle organ development. Localizes to Z disc. Is expressed in central nervous system; heart; skeletal muscle; and skeletal muscle cell. Orthologous to human OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from Raeker et al., 2006

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With obscna Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		{Rhabdomyolysis, susceptibility to, 1}	620235

Associated With obscna Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Active_site	IPR008271	Serine/threonine-protein kinase, active site
Binding_site	IPR000048	IQ motif, EF-hand binding site
Binding_site	IPR017441	Protein kinase, ATP binding site
Domain	IPR000219	Dbl homology (DH) domain
Domain	IPR000719	Protein kinase domain
Domain	IPR001452	SH3 domain
Domain	IPR001849	Pleckstrin homology domain
Domain	IPR003598	Immunoglobulin subtype 2
Domain	IPR003599	Immunoglobulin domain subtype
Domain	IPR003961	Fibronectin type III
Domain	IPR007110	Immunoglobulin-like domain
Domain	IPR013098	Immunoglobulin I-set
Domain	IPR013106	Immunoglobulin V-set domain
Family	IPR052385	Obscurin and Obscurin-like Regulators
Homologous_superfamily	IPR011009	Protein kinase-like domain superfamily
Homologous_superfamily	IPR011993	PH-like domain superfamily
Homologous_superfamily	IPR013783	Immunoglobulin-like fold
Homologous_superfamily	IPR035899	Dbl homology (DH) domain superfamily
Homologous_superfamily	IPR036116	Fibronectin type III superfamily
Homologous_superfamily	IPR036179	Immunoglobulin-like domain superfamily