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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. DYSF, dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Sequence ID:NM_001130455
NM_001130976
NM_001130977
NM_001130978
NM_001130979
NM_001130980
NM_001130981
NM_001130982
NM_001130983
NM_001130984
NM_001130985
NM_001130986
NM_001130987
NM_003494
RefSeqGene ID:NG_008694
Entrez Gene ID:8291
Ensembl ID:ENSG00000135636

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
MIYOSHI MUSCULAR DYSTROPHY 1 
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 

Cytogenetic Location (from UniGene)

Cytogenetic Location:2p13.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:2: 71680759 - 71913893

 Exon Info From UCSC:
NM_001130455
NM_001130976
NM_001130977
NM_001130978
NM_001130979
NM_001130980
NM_001130981
NM_001130982
NM_001130983
NM_001130984
NM_001130985
NM_001130986
NM_001130987
NM_003494

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
100068841Full LengthBC172229dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
5405960IncompleteBC038246dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_003485  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001130455 NP_001123927    
NM_001130976 NP_001124448    
NM_001130977 NP_001124449    
NM_001130978 NP_001124450    
NM_001130979 NP_001124451    
NM_001130980 NP_001124452    
NM_001130981 NP_001124453    
NM_001130982 NP_001124454    
NM_001130983 NP_001124455    
NM_001130984 NP_001124456    
NM_001130985 NP_001124457    
NM_001130986 NP_001124458    
NM_001130987 NP_001124459    
NM_003494 NP_003485 O75923 C2
FerB
FerI
FerA

Related Sequences

 
mRNAGenPeptSwissProt
AF075575 AAC63519 O75923
BC172229 AAI72229  
DQ267935 ABB89736 O75923
EU515155 ACB12752 O75923
EU515156 ACB12753 O75923
EU515157 ACB12754 O75923
EU515158 ACB12755 O75923
EU515159 ACB12756 O75923
EU515160 ACB12757 O75923
EU515161 ACB12758 O75923
EU515162 ACB12759 O75923
EU515163 ACB12760 O75923
EU515164 ACB12761 O75923
EU515165 ACB12762 O75923
EU515166 ACB12763 O75923
AK074104 BAB84930 O75923
AK074442 BAB85086 Q8TCI0
AK074649 BAG51981 O75923
AK295004 BAH11947 B7Z2R1
AK303364 BAH13950 B7Z8G4

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens DYSF NP_001124455 M.musculus Dysf 26903 Gene Info NP_067444 94
R.norvegicus Dysf 312492   NP_001101339 94
C.elegans fer-1 172659   NP_492337 30
C.elegans ferl-1 188128   NP_491602 26

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)