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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DYSF Gene

protein-coding GIFtS: 61
GCID: GC02P071680

dysferlin, limb girdle muscular dystrophy 2B (autosomal...

(Previous symbol: LGMD2B)

Explore 25 diseases affiliated with
DYSF via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Dysferlin, Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive)¹ ²		Fer-1-Like Protein 1² ³
FER1L1¹ ² ³		MMD1²
LGMD2B¹ ² ⁵		Dysferlin¹
Dystrophy-Associated Fer-1-Like Protein² ³		Dystrophy-Associated Fer-1-Like 1²

External Ids:	HGNC: 3097¹	Entrez Gene: 8291²	Ensembl: ENSG00000135636⁷	OMIM: 603009⁵	UniProtKB: O75923³

Export aliases for DYSF gene to outside databases

Previous GC identifers: GC02P071690 GC02P071891 GC02P071655 GC02P071592 GC02P071417

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DYSF:

The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with

the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated

membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the

protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation

of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular

dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants.

(provided by RefSeq, Aug 2008)

UniProtKB/Swiss-Prot: DYSF_HUMAN, O75923

Function: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role

in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of

membranes disrupted by mechanical stress (By similarity)

Gene Wiki entry for DYSF (Dysferlin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_022184.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DYSF gene promoter:
MyoD
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DYSF promoter sequence

Search SABiosciences Chromatin IP Primers for DYSF

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DYSF

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p13.3 Ensembl cytogenetic band: 2p13.2 HGNC cytogenetic band: 2p13.3

DYSF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DYSF gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02P071680: view genomic region (about GC identifiers)

Start:	71,680,753 bp from pter	End:	71,913,898 bp from pter
Size:	233,146 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DYSF_HUMAN, O75923 (See protein sequence)

Recommended Name: Dysferlin

Size: 2080 amino acids; 237295 Da

Subunit: Interacts with CACNA1S. Interacts with ANXA1; the interaction is Ca(2+)- and injury state-dependent. Interacts

with ANXA2; the interaction is Ca(2+)- and injury state-dependent. Interacts with CACNA1S and PARVB. Interacts with

TRIM72/MG53; interaction is required for transport to sites of cell injury during repair patch formation (By

similarity). Interacts with CAV3 and PARVB. Interacts with AHNAK; the interaction is direct and Ca(2+)-independent.

Interacts with AHNAK2; the interaction is direct and Ca(2+)-independent

Subcellular location: Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane;

Single-pass type II membrane protein (By similarity). Note=Colocalizes, during muscle differentiation, with BIN1 in

the T-tubule system of myotubules and at the site of contact between two myotubes or a myoblast and a myotube.

Wounding of myotubes led to its focal enrichment to the site of injury and to its relocalization in a Ca(2+)-dependent

manner toward the plasma membrane. Colocalizes with AHNAK, AHNAK2 and PARVB at the sarcolemma of skeletal muscle.

Detected on the apical plasma membrane of the syncytiotrophoblast. Reaches the plasmma membrane through a

caveolin-independent mechanism. Retained by caveolin at the plasmma membrane (By similarity). Colocalizes, during

muscle differentiation, with CACNA1S in the T-tubule system of myotubules (By similarity). Accumulates and colocalizes

with fusion vesicles at the sarcolemma disruption sites (By similarity)

Developmental stage: Expression in limb tissue from 5-6 weeks embryos; persists throughout development

Sequence caution: Sequence=BAG51981.1; Type=Erroneous initiation; Sequence=CAA07603.1; Type=Erroneous initiation;

Note=Translation N-terminally shortened; Sequence=CAA07603.1; Type=Frameshift; Positions=1972;

Secondary accessions: B1PZ70 B1PZ71 B1PZ72 B1PZ73 B1PZ74 B1PZ75 B1PZ76 B1PZ77 B1PZ78 B1PZ79 B1PZ80

B1PZ81 B3KQB9 O75696 Q09EX5 Q0H395 Q53QY3 Q53TD2 Q8TEL8 Q9UEN7

Alternative splicing: 15 isoforms: O75923-1 O75923-2 O75923-3 O75923-4 O75923-5 O75923-6 O75923-7 O75923-8

O75923-9 O75923-10 O75923-11 O75923-12 O75923-13 O75923-14 O75923-15

Explore the universe of human proteins at neXtProt for DYSF: NX_O75923

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O75923

DYSF Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (14 alternative transcripts):

NP_001123927.1 NP_001124448.1 NP_001124449.1 NP_001124450.1 NP_001124451.1 NP_001124452.1 NP_001124453.1 NP_001124454.1

NP_001124455.1 NP_001124456.1 NP_001124457.1 NP_001124458.1 NP_001124459.1 NP_003485.1

ENSEMBL proteins:

ENSP00000407046 ENSP00000387137 ENSP00000386547 ENSP00000398305 ENSP00000258104

ENSP00000386683 ENSP00000377678 ENSP00000386285 ENSP00000386512 ENSP00000386881

ENSP00000386617

Human Recombinant Protein Products:

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for DYSF

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	10496277
GO:0016021	integral to membrane	IEA	--
GO:0030027	lamellipodium	IEA	--
GO:0030315	T-tubule	IEA	--
GO:0030659	cytoplasmic vesicle membrane	IEA	--

DYSF for ontologies About GeneDecksing

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Assay Products for DYSF:

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	Uscn ELISAs and CLIAs for DYSF

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DYSF for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR012561 Ferlin_B-domain

IPR008973 C2_Ca/lipid-bd_dom_CaLB

IPR006614 Peroxin/Ferlin

IPR012968 FerIin-domain

IPR010482 Peroxin/Dysferlin

Graphical View of Domain Structure for InterPro Entry O75923

ProtoNet protein and cluster: O75923

5/6 Blocks protein families (see all 6):

IPB000008 C2 domain

IPB006613 Dysferlin

IPB006614 Dysferlin

IPB012560 FerA

IPB012561 FerB

UniProtKB/Swiss-Prot: DYSF_HUMAN, O75923

Domain: The C2 domain 1 associates with lipid membranes in a calcium-dependent manner

Similarity: Belongs to the ferlin family

Similarity: Contains 5 C2 domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: DYSF_HUMAN, O75923

Function: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role

in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of

membranes disrupted by mechanical stress (By similarity)

Genatlas biochemistry entry for DYSF:

dysferlin,related to the C elegans spermatogenesis factor fer-1,sarcolemmal protein,highly expressed in skeletal

muscle,also expressed in heart and placenta,deleted in SJL mice

miRNA Products:		OriGene 3'-UTR Clone (see all 14): DYSF Browse MicroRNA Expression Plasmids
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		hsa-miR-708 hsa-miR-765 hsa-miR-28-5p hsa-miR-3139
		SwitchGear 3'UTR luciferase reporter plasmid: DYSF 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DYSF

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	--	--
GO:0005544	calcium-dependent phospholipid binding	IMP	11959863

DYSF for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for DYSF:

Decreased p24 protein expressi

G0/1 arrest

Increased G1 DNA content

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-outs for DYSF: Dysf^tm1Meho Dysf^tm1Kcam
3 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Dysf):

behavior/neurological

homeostasis/metabolism

muscle

DYSF for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DYSF

STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

5/22 Interacting proteins for DYSF (O75923^{1, 3} ENSP00000386881⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 22)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ANXA2	P07355³, ENSP00000346032⁴	I2D: score=3 STRING: ENSP00000346032
CAV3	P56539³, ENSP00000341940⁴	I2D: score=2 STRING: ENSP00000341940
ANXA1	P04083³, ENSP00000257497⁴	I2D: score=3 STRING: ENSP00000257497
CAPN3	P20807³, ENSP00000380349⁴	I2D: score=1 STRING: ENSP00000380349
ACTN2	P35609¹	EBI-2799016,EBI-928705

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001778	plasma membrane repair	IEA	--
GO:0006906	vesicle fusion	IEA	--

DYSF for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DYSF for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DYSF
2 Novoseek chemical compound relationships for DYSF gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
creatinine	49	6	11739845 (1), 14749532 (1), 19286669 (1), 17030657 (1) (see all 5)
calcium	0	1	11077661 (1)

Search CenterWatch for drugs/clinical trials and news about DYSF

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DYSF gene (14 alternative transcripts):

NM_001130455.1 NM_001130976.1 NM_001130977.1 NM_001130978.1 NM_001130979.1 NM_001130980.1 NM_001130981.1 NM_001130982.1

NM_001130983.1 NM_001130984.1 NM_001130985.1 NM_001130986.1 NM_001130987.1 NM_003494.3

Unigene Cluster for DYSF:

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

Hs.252180 [show with all ESTs]

Unigene Representative Sequence: NM_001130981

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000413539 ENST00000409762 ENST00000409582(uc010fef.3) ENST00000429174

ENST00000258104(uc010fei.3 uc010feh.3 uc002sig.4 uc010yqx.2 uc010feg.3 uc010fee.3 uc002sie.3)

ENST00000409651(uc010feo.3) ENST00000394120(uc010fel.3 uc002sif.3)

ENST00000409744(uc010fej.3) ENST00000409366(uc010fem.3) ENST00000410020(uc010fen.3)

ENST00000410041(uc010fek.3) ENST00000461565 ENST00000475076 ENST00000479049(uc010yqy.2 uc010yqz.2)

ENST00000493767 ENST00000472873 ENST00000494501 ENST00000487180

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		hsa-miR-708 hsa-miR-765 hsa-miR-28-5p hsa-miR-3139
		SwitchGear 3'UTR luciferase reporter plasmid: DYSF 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DYSF

Additional cDNA sequence:

AF075575.1 AK074104.1 AK074649.1 AK295004.1 AK303364.1 AK310739.1 BC038246.1 BC171803.1

DQ267935.1 EU515155.1 EU515156.1 EU515157.1 EU515158.1 EU515159.1 EU515160.1 EU515161.1

EU515162.1 EU515163.1 EU515164.1 EU515165.1 EU515166.1

15 DOTS entries:

DT.219435 DT.100779365 DT.97858083 DT.75100058 DT.91749675 DT.120937777 DT.120937806 DT.91847977

DT.95102351 DT.95187372 DT.120937789 DT.95180834 DT.95187370 DT.95332778 DT.97864106

24/133 AceView cDNA sequences (see all 133):

CB141180 CB154531 BI021262 AW339948 AF075575 BQ949648 NM_003494 AL707440

AI739271 AI583737 AI678163 AI192657 AW340298 BI021402 AW303464 AW303289

AW137024 AI128455 BQ420433 AL599589 AI097379 CK301077 BF724880 AJ714402

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for DYSF About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^
SP1:
SP2:

ExUns:	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34	^	35	^	36	^	37	^	38a	·	38b	^	39a	·	39b	^	40	^	41	^	42	^	43	^	44	^	45	^	46	^	47	^	48	^	49	^	50	^
SP1:
SP2:																							-

ExUns:	51	^	52	^	53	^	54	^	55
SP1:
SP2:

ECgene alternative splicing isoforms for DYSF

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DYSF expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAGCTCTGAG

About this image

DYSF expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Primitive Heart Tube

Primitive Heart Tube Cells

Myocardium

Heart

Heart Tube

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/13 LifeMap Cells (see all 13)

Name

Category

PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)

Blood, Endothelium

PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)

Endothelium

PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)

Endothelium

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)

Endothelium

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

See DYSF Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DYSF

SOURCE GeneReport for Unigene cluster: Hs.252180

UniProtKB/Swiss-Prot: DYSF_HUMAN, O75923

Tissue specificity: Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the

placenta (at protein level). Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine,

placenta and at lower levels in liver, lung, kidney and pancreas

SABiosciences Expression via Pathway-Focused PCR Array including DYSF:

Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DYSF

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DYSF

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for DYSF gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
chicken (Gallus gallus)	Aves	DYSF¹	dysferlin, limb girdle muscular dystrophy 2B (autosomal more	76.83(n) 78.95(a)	425353 XM_423126.3 XP_423126.3
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.11849²	Transcribed sequence with moderate similarity to protein more	78.97(n)	BX709910.1
zebrafish (Danio rerio)	Actinopterygii	dysf¹	dysferlin, limb girdle muscular dystrophy 2B (autosomal more	67.98(n) 69.41(a)	560924 XM_684324.4 XP_689416.4
fruit fly (Drosophila melanogaster)	Insecta	CG5747³	--	32(a)	66E3 --
worm (Caenorhabditis elegans)	Secernentea	fer-1¹	Protein FER-1	43.26(n) 30.18(a)	172659 NM_059936.3 NP_492337.1

ENSEMBL Gene Tree for DYSF (if available)
TreeFam Gene Tree for DYSF (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DYSF gene

OTOF² FER1L6² MYOF²

2 SIMAP similar genes for DYSF using alignment to 4 protein entries: DYSF_HUMAN (see all proteins):

MYOF FER1L5

DYSF for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for DYSF
PGOHUM00000262149

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121908963^1,2	C	pathogenic	71744158(+)	`TCCTCA/G/TGGGAG`	42	R G W	mis¹		0	--	--	--	--
rs121908960^1,2	C	pathogenic	71780261(+)	`AGTTCA/G/TACATG`	42	N D Y	mis¹		0	--	--	--	--
rs121908954^1,2	C,F,	pathogenic	71829924(+)	`CAAGGA/GTCCTG`	28	I V	mis¹		2		NA EU	5539
rs121908955^1,2	C	pathogenic	71909727(+)	`GGCGGC/TGTTTC`	28	R C	mis¹		1		NA	4552
rs143393575^1,2	C	other	71825791(+)	`TTCTAC/TGAGAT`	28	Y	syn¹		1		NA	4552
rs145832952^1,2	C,	other	71895914(+)	`TATTTC/TCGAAG`	28	P S	mis¹		0	--	--	--	--
rs116984886^1,2	F,	--	71678927(+)	`TGAACT/CCCTAG`	7	--	us2k¹		1		EA	120
rs190570642^1,2		--	71678968(+)	`TTACTA/GTCCTG`	7	--	us2k¹		0	--	--	--	--
rs182438039^1,2		--	71678988(+)	`TGAGGA/GCTCCC`	7	--	us2k¹		0	--	--	--	--
rs142018364^1,2		--	71678991(+)	`GGACTC/GCCTGC`	7	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DYSF (71680753 - 71913898 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for DYSF
1 CNV: 50552
2 Indels: 97880 73965
Human Gene Mutation Database (HGMD): DYSF

Locus Specific Mutation Databases (LSDB): DYSF

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DYSF

DNA2.0 Custom Variant and Variant Library Synthesis for DYSF

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DYSF for disorders           About GeneDecksing

OMIM gene information: 603009
OMIM disorders: 253601  254130  606768
UniProtKB/Swiss-Prot: DYSF_HUMAN, O75923

Defects in DYSF are the cause of limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]. LGMD2B is an

autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral

muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow

progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some

years after the onset in lower limbs

Defects in DYSF are the cause of Miyoshi muscular dystrophy type 1 (MMD1) [MIM:254130]. MMD1 is a late-onset

muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects

the gastrocnemius muscle during early adulthood. Otherwise the phenotype overlaps with LGMD2B, especially in age at

onset and creatine kinase elevation

Defects in DYSF are the cause of distal myopathy with anterior tibial onset (DMAT) [MIM:606768]. Onset of the

disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved.

Inheritance is autosomal recessive

20/25 diseases for DYSF (see all 25): About MalaCards

limb-girdle muscular dystrophy muscular dystrophy miyoshi myopathy limb-girdle muscular dystrophy, type 2b

myopathy, distal, with anterior tibial onset myopathy welander distal myopathy skeletal muscle regeneration

distal muscular dystrophy rippling muscle disease neuromuscular disease dysferlinopathy

sarcoglycanopathies dystrophinopathies polymyositis protein s deficiency

dilated cardiomyopathy multiple sclerosis myositis addison's disease

2 diseases from the University of Copenhagen DISEASES database for DYSF:

Myopathy Neuropathy

10/32 Novoseek disease relationships for DYSF gene (see all 32) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
miyoshi myopathy	99.2	86	9570945 (2), 16010686 (2), 17785089 (2), 11117547 (2) (see all 56)
lgmd2b	98.8	88	11665864 (8), 9570945 (6), 10069710 (3), 16010686 (2) (see all 40)
muscular dystrophy limb-girdle	95.7	48	9570945 (2), 17785089 (2), 10766988 (2), 14967765 (1) (see all 29)
distal myopathies	94	13	16116644 (2), 12445162 (1), 17337483 (1), 11134403 (1) (see all 11)
lgmd2g	93.5	9	11665864 (3), 14959561 (1), 15316618 (1), 10069710 (1)
distal muscular dystrophy	92.9	4	16310593 (1), 15568488 (1), 16891820 (1), 10995573 (1)
muscular dystrophies	92.6	56	15254015 (2), 18306167 (2), 11117547 (2), 19380584 (2) (see all 41)
limb girdle	92	17	12734659 (2), 16705711 (1), 16183658 (1), 10496277 (1) (see all 14)
lgmd1c	91.8	7	11532985 (2), 15316618 (1), 14673575 (1), 15835269 (1) (see all 5)
lgmd2a	91.3	14	11665864 (4), 10069710 (2), 12235836 (1), 14959561 (1) (see all 7)

GeneTests: DYSF

Dysferlinopathy

Human Genome Epidemiology (HuGE) Navigator: DYSF (2 documents)

Export disorders for DYSF gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for DYSF gene, integrated from 9 sources (see all 221):
(articles sorted by number of sources associating them with DYSF)

Utopia: connect your pdf to the dynamic
world of online information

Dysferlin is expressed in human placenta but does not associate with caveolin. (PubMed id 17554076)^{1, 2, 9} Vandre D.D.... Robinson J.M. (2007)
Dysferlin interacts with affixin (beta-parvin) at the sarcolemma. (PubMed id 15835269)^{1, 2, 9} Matsuda C.... Hayashi Y.K. (2005)
Dysferlin is a plasma membrane protein and is expressed early in human development. (PubMed id 10196375)^{1, 2, 9} Anderson L.V.B.... Bushby K.M.D. (1999)
From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. (PubMed id 17363620)^{1, 2, 9} Klinge L....Bushby K. (2007)
Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions. (PubMed id 16996541)^{1, 2, 9} Therrien C.... Sinnreich M. (2006)
Symptomatic dysferlin gene mutation carriers: characterization of two cases. (PubMed id 17287450)^{1, 2, 9} Illa I....Gallardo E. (2007)
Identification and characterization of a novel human dysferlin transcript: dysferlin_v1. (PubMed id 16896923)^{1, 2, 9} Pramono Z.A.D.... Yee W.C. (2006)
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies. (PubMed id 16100712)^{1, 2, 9} Cagliani R....Comi G.P. (2005)
Developmental and tissue-specific regulation of a novel dysferlin isoform. (PubMed id 15318348)^{1, 2, 9} Salani S.... Comi G.P. (2004)
Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. (PubMed id 14678801)^{1, 2, 9} Cagliani R.... Comi G.P. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 8291	HGNC: 3097	AceView: DYSF	Ensembl:ENSG00000135636	euGenes: HUgn8291
ECgene: DYSF	H-InvDB: DYSF

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DYSF	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for DYSF	Genetics and Cytogenetics in Oncology and Haematology
LEIDEN Muscular Dystrophy page for DYSF	Scientfic Information about Duchenne and Duchenne-like muscular dystrophies.
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DYSF
Wikipedia	http://en.wikipedia.org/wiki/Dysferlin

Intellectual Property for DYSF gene
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Patent Information for DYSF gene:
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GeneCards and IP:
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Limb girdle
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE
LGMD2I
Autoimmune Diseases
MIYOSHI MYOPATHY
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DYSF Gene

dysferlin, limb girdle muscular dystrophy 2B (autosomal...

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