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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MYOF Gene

protein-coding GIFtS: 55
GCID: GC10M095057

myoferlin

(Previous names: fer-1 (C.elegans)-like 3 (myoferlin), fer-1-like 3, myoferlin...)
(Previous symbol: FER1L3)

Explore 10 diseases affiliated with
MYOF 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
Myoferlin¹		Fer-1 (C.Elegans)-Like 3 (Myoferlin)¹
FER1L3¹ ² ³		Fer-1-Like 3, Myoferlin (C. Elegans)¹
KIAA1207¹ ³		Fer-1-Like 3, Myoferlin²
Fer-1-Like Protein 3² ³

External Ids:	HGNC: 3656¹	Entrez Gene: 26509²	Ensembl: ENSG00000138119⁷	OMIM: 604603⁵	UniProtKB: Q9NZM1³

Export aliases for MYOF gene to outside databases

Previous GC identifer: GC10M088693

(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 MYOF:

Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both

proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally

similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The

protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be

involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for

this gene. Other possible variants have been detected, but their full-length nature has not been determined. (provided

by RefSeq, Dec 2008)

UniProtKB/Swiss-Prot: MYOF_HUMAN, Q9NZM1

Function: Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial

cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling.

Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity)

Gene Wiki entry for MYOF (FER1L3)

(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_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MYOF gene promoter:
TBP oct-B2 oct-B3 MAZR ATF-2 CUTL1 Evi-1 POU2F1 Nkx6-1 TFIID
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MYOF promoter sequence

Search SABiosciences Chromatin IP Primers for MYOF

Epigenetics:

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

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

Entrez Gene cytogenetic band: 10q24 Ensembl cytogenetic band: 10q23.33 HGNC cytogenetic band: 10q24

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

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10M095057: view genomic region (about GC identifiers)

Start:	95,066,186 bp from pter	End:	95,242,074 bp from pter
Size:	175,889 bases	Orientation:	minus 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: MYOF_HUMAN, Q9NZM1 (See protein sequence)

Recommended Name: Myoferlin

Size: 2061 amino acids; 234709 Da

Cofactor: Binds calcium ions. The ions are bound to the C2 1 domain (By similarity)

Subunit: Interacts with DNM2 and KDR (By similarity). Interacts with EHD2; the interaction is direct

Subcellular location: Cell membrane; Single-pass type II membrane protein. Nucleus membrane; Single-pass type II

membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Note=Concentrated at the

membrane sites of both myoblast-myoblast and myoblast-myotube fusions. Detected at the plasmalemma in endothelial

cells lining intact blood vessels (By similarity). Found at nuclear and plasma membranes. Enriched in undifferentiated

myoblasts near the plasma membrane in puncate structures

Sequence caution: Sequence=AAH40110.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A

sequence; Sequence=BAG52097.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

2 PDB 3D structures from and Proteopedia for MYOF:

2DMH (3D)

2K2O (3D)

Secondary accessions: B3KQN5 Q5VWW2 Q5VWW3 Q5VWW4 Q5VWW5 Q7Z642 Q8IWH0 Q9HBU3 Q9NZM0 Q9ULL3 Q9Y4U4

Alternative splicing: 8 isoforms: Q9NZM1-1 Q9NZM1-2 Q9NZM1-3 Q9NZM1-4 Q9NZM1-5 Q9NZM1-6 Q9NZM1-7 Q9NZM1-8

(No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MYOF: NX_Q9NZM1

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NZM1

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

REFSEQ proteins (2 alternative transcripts):

NP_038479.1 NP_579899.1

ENSEMBL proteins:

ENSP00000432708 ENSP00000351094 ENSP00000352208 ENSP00000360544 ENSP00000360543

ENSP00000360556 ENSP00000360557

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	Uscn Proteins for MYOF

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005635	nuclear envelope	TAS	10607832
GO:0005886	plasma membrane	IDA	--
GO:0005901	caveola	ISS	--
GO:0016021	integral to membrane	IEA	--
GO:0030659	cytoplasmic vesicle membrane	IEA	--

MYOF for ontologies About GeneDecksing

MYOF Antibody Products:

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	Uscn ELISAs and CLIAs for MYOF

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

MYOF for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR012561 Ferlin_B-domain

IPR008973 C2_Ca/lipid-bd_dom_CaLB

IPR006614 Peroxin/Ferlin

IPR012968 FerIin-domain

IPR018029 C2_membr_targeting

Graphical View of Domain Structure for InterPro Entry Q9NZM1

ProtoNet protein and cluster: Q9NZM1

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

IPB000008 C2 domain

IPB006613 Dysferlin

IPB006614 Dysferlin

IPB012560 FerA

IPB012561 FerB

UniProtKB/Swiss-Prot: MYOF_HUMAN, Q9NZM1

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: MYOF_HUMAN, Q9NZM1

Function: Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial

cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling.

Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity)

Genatlas biochemistry entry for MYOF:

myoferlin,expressed in skeletal muscle,heart,lung,located at nuclear and plasma membranes,highly homolog to dysferlin

miRNA Products:		OriGene 3'-UTR Clone (see all 2): MYOF Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYOF
		1 QIAGEN miScript miRNA Assays for microRNA that regulate MYOF:
		hsa-miR-494
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MYOF
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOF

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005543	phospholipid binding	ISS	--

MYOF for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for MYOF:

Decreased nuclei size in G2M

Animal Models:
Mouse knock-out Myof^tm1Mcn for MYOF
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Myof):

cardiovascular system

growth/size

muscle

MYOF 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:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MYOF

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/8 Interacting proteins for MYOF (Q9NZM1^{2, 3} ENSP00000352208⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAZ	P63104²^,³, ENSP00000309503⁴	MINT-3320095 I2D: score=1 STRING: ENSP00000309503
SUMO1	P63165³, ENSP00000376076⁴	I2D: score=1 STRING: ENSP00000376076
EHD2	Q9NZN4³	I2D: score=1
DNM2	ENSP00000352721⁴	STRING: ENSP00000352721
KDR	ENSP00000263923⁴	STRING: ENSP00000263923

About this table

Gene Ontology (GO): 5 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	ISS	--
GO:0006936	muscle contraction	TAS	10607832
GO:0008015	blood circulation	TAS	10607832
GO:0030947	regulation of vascular endothelial growth factor receptor signaling pathway	IEA	--
GO:0034605	cellular response to heat	IEA	--

MYOF 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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MYOF
Search CenterWatch for drugs/clinical trials and news about MYOF

(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 MYOF gene (2 alternative transcripts):

NM_013451.3 NM_133337.2

Unigene Cluster for MYOF:

Myoferlin

Hs.602086 [show with all ESTs]

Unigene Representative Sequence: NM_013451

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000463743 ENST00000358334 ENST00000359263 ENST00000463541 ENST00000474161

ENST00000485212 ENST00000475358 ENST00000371489(uc001kip.4 uc009xuf.2)

ENST00000371488 ENST00000488645 ENST00000371501(uc001kin.3 uc001kio.3)

ENST00000371502(uc009xue.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): MYOF Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MYOF
		1 QIAGEN miScript miRNA Assays for microRNA that regulate MYOF:
		hsa-miR-494
		SwitchGear 3'UTR luciferase reporter plasmid: MYOF 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MYOF
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MYOF

Additional cDNA sequence:

AB033033.2 AF182316.1 AF207990.1 AK075258.1 AK093890.1 AL096713.1 BC014612.2 BC033616.1

BC040110.1 BC052617.1

19 DOTS entries:

DT.315297 DT.100796320 DT.100029166 DT.97765735 DT.100796317 DT.455201 DT.95222163 DT.121222927

DT.92455917 DT.102848 DT.121222951 DT.121222954 DT.92019831 DT.92045547 DT.92455916 DT.95350922

DT.86843390 DT.92027962 DT.95227029

24/343 AceView cDNA sequences (see all 343):

T33749 BI869297 BX504555 CB146503 AK075258 AA295503 N22119 AK093890

AI698346 BM310623 BQ438968 BU627067 AA351305 AI572373 AI290179 AI421113

F07109 BX489405 BG403918 H26177 CB529090 CA428697 BG119402 BM977920

GeneLoc Exon Structure

(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

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

About this image

MYOF expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

Syncytiotrophoblast-like cells (Generation of syncyt...)

Definitive endoderm-like cells (Generation of mesend...)

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

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

SOURCE GeneReport for Unigene cluster: Hs.602086

UniProtKB/Swiss-Prot: MYOF_HUMAN, Q9NZM1

Tissue specificity: Expressed in myoblast and endothelial cells (at protein level). Highly expressed in cardiac and

skeletal muscles. Also present in lung, and at very low levels in kidney, placenta and brain

SABiosciences Custom PCR Arrays for MYOF

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOF

(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 MYOF gene from 7/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Myof^{1 , 5}	myoferlin^{1, 5}	88.6(n)¹ 94.04(a)¹		19 (32.53 cM)⁵ 226101¹ NM_001099634.1¹ NP_001093104.1¹ 37899036⁵
chicken (Gallus gallus)	Aves	MYOF¹	myoferlin	76.77(n) 83.01(a)		423805 XM_001231545.2 XP_001231546.2
lizard (Anolis carolinensis)	Reptilia	MYOF⁶	--	82(a)	1 ↔ 1	GL343219.1(2004614-2114982)
African clawed frog (Xenopus laevis)	Amphibia	Xl.9535²	Xenopus laevis transcribed sequence with moderate similarity more	77.97(n)		BJ069137.1
zebrafish (Danio rerio)	Actinopterygii	zgc63504²	hypothetical protein MGC63504	74.56(n)		393849 BC063743.1
fruit fly (Drosophila melanogaster)	Insecta	mfr⁶	misfire	23(a)	possible ortholog	3L(8899017-8905771)
worm (Caenorhabditis elegans)	Secernentea	fer-1⁶ ferl-1⁶	FER-1 Like family member (ferl-1)	22(a) 17(a)	possible ortholog possible ortholog	I(8623011-8631178) I(5455733-5459526)

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

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

Paralogs for MYOF gene

OTOF² FER1L6² DYSF²

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

DYSF FER1L5

MYOF for paralogs About GeneDecksing

(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 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs150652801^1,2	C	--	88820882(+)	`AACTG-/TTAC TTACT`	1	--	int¹		0	--	--	--	--
rs10882217^1,2	C,A,H,	--	95065693(+)	`CCACCG/ACGCCC`	2	--	ds500¹		1		NA	2
rs112352376^1,2	C,	--	95065781(+)	`GCTCAC/ACACAA`	2	--	ds500¹		1		NA	2
rs143182018^1,2		--	95065830(+)	`CCTCCC/TGAGTA`	2	--	ds500¹		0	--	--	--	--
rs7098282^1,2	C,	--	95065866(+)	`ACACCC/TGGCTA`	2	--	ds500¹		1		NA	2
rs181664741^1,2		--	95065948(+)	`GATCTG/TCCCGC`	2	--	ds500¹		0	--	--	--	--
rs138500812^1,2		--	95065951(+)	`CTGCCC/TGCTTC`	2	--	ds500¹		0	--	--	--	--
rs2797579^1,2	C,F,A,H,	--	95065992(+)	`GAACCA/GCTCTG`	2	--	ds500¹		29		NS EA NA WA CSA	2498
rs2797580^1,2	C,F,A,H,	--	95066024(+)	`ATTTAT/CAATGT`	2	--	ds500¹		16		NA WA CSA EA	519
rs149634713^1,2		--	95066189(+)	`TGTAAA/GGGTGA`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MYOF (95066186 - 95242074 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MYOF
1 CNV: 5608
Human Gene Mutation Database (HGMD): MYOF

SABiosciences Cancer Mutation PCR Assays

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

DNA2.0 Custom Variant and Variant Library Synthesis for MYOF

(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

MYOF for disorders           About GeneDecksing

OMIM gene information: 604603    OMIM disorders: --

10 diseases for MYOF:    About MalaCards

limb-girdle muscular dystrophy kyasanur forest disease miyoshi myopathy muscular dystrophy

intestinal neoplasm dysferlinopathy myopathy alzheimer's disease

malaria limb-girdle muscular dystrophy, type 2b

1 disease from the University of Copenhagen DISEASES database for MYOF:

Muscular dystrophy

4 Novoseek disease relationships for MYOF gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
miyoshi myopathy	91.7	1	16707852 (1)
lgmd2b	90.7	1	11665864 (1)
muscular dystrophy limb-girdle	83.8	2	16707852 (1), 18495154 (1)
muscular dystrophies	59.7	5	10607832 (2)

Human Genome Epidemiology (HuGE) Navigator: MYOF (6 documents)

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(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)
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PubMed articles for MYOF gene, integrated from 9 sources (see all 46):
(articles sorted by number of sources associating them with MYOF)

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Myoferlin, a candidate gene and potential modifier of muscular dystrophy. (PubMed id 10607832)^{1, 2, 3, 9} Davis D.B.... McNally E.M. (2000)
The third human FER-1-like protein is highly similar to dysferlin. (PubMed id 10995573)^{1, 2, 3, 9} Britton S....Bashir R. (2000)
Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function. (PubMed id 17702744)^{1, 2, 3} Bernatchez P.N....Sessa W.C. (2007)
The endocytic recycling protein EHD2 interacts with myoferlin to regulate myoblast fusion. (PubMed id 18502764)^{1, 2, 9} Doherty K.R.... McNally E.M. (2008)
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. (PubMed id 18495154)^{1, 2, 9} Patel P....Keep N.H. (2008)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)^{1, 2} Deloukas P.... Rogers J. (2004)
Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains. (PubMed id 11959863)^{1, 2} Davis D.B.... McNally E.M. (2002)
Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)^{1, 2} Nakajima D.... Nagase T. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 26509	HGNC: 3656	AceView: FER1L3	Ensembl:ENSG00000138119	euGenes: HUgn26509
ECgene: MYOF	H-InvDB: MYOF

(According to HUGE)
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HUGE: KIAA1207

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MYOF	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MYOF gene
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Patent Information for MYOF gene:
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