Gene

desma

ID

ZDB-GENE-980526-221

Name

desmin a

Symbol

desma Nomenclature History

Previous Names

des
desm
cb290 (1)
wu:fb59a12
zgc:109859

Type

protein_coding_gene

Location

Chr: 9 Mapping Details/Browsers

Description

Involved in several processes, including regulation of cardiac muscle contraction by calcium ion signaling; sarcomere organization; and skeletal muscle tissue development. Localizes to Z disc. Used to study myofibrillar myopathy 1. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Is expressed in several structures, including cardiovascular system; hindbrain neural plate; mesoderm; musculature system; and pectoral fin. Orthologous to human DES (desmin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

46 figures from 23 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb290 (15 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 16 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With desma Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
dilated cardiomyopathy 1I	Alliance	Cardiomyopathy, dilated, 1I	604765
myofibrillar myopathy 1	Alliance	Myopathy, myofibrillar, 1	601419
neurogenic scapuloperoneal syndrome Kaeser type	Alliance	Scapuloperoneal syndrome, neurogenic, Kaeser type	181400

Associated With desma Via Experimental Models

Human Disease	Fish	Conditions	Citations
myofibrillar myopathy 1	desma^{ct122aGt/ct122aGt}	control	Ramspacher et al., 2015
myofibrillar myopathy 1	desma^sa5/sa5	control	Ramspacher et al., 2015

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR018039	Intermediate filament protein, conserved site
Domain	IPR006821	Intermediate filament head, DNA-binding domain
Domain	IPR039008	Intermediate filament, rod domain
Family	IPR050405	Intermediate filament structural protein

Domain Details Per Protein

Protein	Length	Intermediate filament head, DNA-binding domain	Intermediate filament protein, conserved site	Intermediate filament, rod domain	Intermediate filament structural protein
UniProtKB:F1R8W4 InterPro	473
UniProtKB:F1R8W3 InterPro	488

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	desma-201 (1) Ensembl	Ensembl	1,774 nt	Select Tool
mRNA	desma-202 (1) Ensembl	Ensembl	1,848 nt	Select Tool
ncRNA	desma-003 (1) Ensembl	Ensembl	859 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-desm	polyclonal	desma		Rabbit	IHC WB	Sigma-Aldrich	17

Plasmids

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations