dysf

ID

ZDB-GENE-070501-1

Name

dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)

Symbol

dysf Nomenclature History

Previous Names

si:rp71-50c18.1
wu:fb73b05

Type

protein_coding_gene

Location

Chr: 7 Mapping Details/Browsers

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to enable metal ion binding activity. Acts upstream of or within T-tubule organization; muscle organ morphogenesis; and plasma membrane repair. Located in T-tubule. Is expressed in brain; digestive system; eye; heart; and muscle. Used to study muscular dystrophy. Human ortholog(s) of this gene implicated in Miyoshi muscular dystrophy 1; autosomal recessive limb-girdle muscular dystrophy type 2B; distal myopathy with anterior tibial onset; and muscular dystrophy. Orthologous to human DYSF (dysferlin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

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: 5 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With dysf Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive limb-girdle muscular dystrophy type 2B	Alliance	Muscular dystrophy, limb-girdle, autosomal recessive 2	253601
distal myopathy with anterior tibial onset	Alliance	Myopathy, distal, with anterior tibial onset	606768
Miyoshi muscular dystrophy 1	Alliance	Miyoshi muscular dystrophy 1	254130

Associated With dysf Via Experimental Models

Human Disease	Fish	Conditions	Citations
muscular dystrophy	AB + MO6-dysf	standard conditions	Ono et al., 2020

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR000008	C2 domain
Domain	IPR006614	Peroxin/Ferlin domain
Domain	IPR012560	Ferlin A-domain
Domain	IPR012561	Ferlin B-domain
Domain	IPR012968	FerIin domain
Domain	IPR032362	Ferlin, C-terminal domain
Domain	IPR037720	Ferlin, second C2 domain
Domain	IPR037722	Ferlin, third C2 domain
Domain	IPR037723	Ferlin, fourth C2 domain
Domain	IPR037724	Ferlin, fifth C2 domain
Domain	IPR037725	Ferlin, sixth C2 domain
Domain	IPR037726	Ferlin, first C2 domain
Domain	IPR055072	Ferlin, dsRNA-binding domain-like domain
Family	IPR037721	Ferlin family
Homologous_superfamily	IPR035892	C2 domain superfamily

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A0A8M9QH31	InterPro	2098
UniProtKB:A0A8M9PNZ9	InterPro	2107
UniProtKB:E7F4H1	InterPro	2097
UniProtKB:F1QIS3	InterPro	2088
UniProtKB:A0A8M9Q7X3	InterPro	2099
UniProtKB:A0A8M9QH25	InterPro	2118
UniProtKB:F6IA09	InterPro	2088
UniProtKB:A0A8M2BJL7	InterPro	2116
UniProtKB:A0A8M9QC21	InterPro	2117
UniProtKB:A0A8M9Q1P0	InterPro	2104
UniProtKB:A0AB32TWT2	InterPro	2117
UniProtKB:A0AB32TYN1	InterPro	2042