Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	26509
Gene name	Myoferlin
Gene symbol	MYOF
Synonyms (NCBI Gene)	FER1L3HAE7
Chromosome	10
Chromosome location	10q23.33
Summary	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

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Show/Hide all (117)

miRTarBase ID	miRNA	Experiments	Reference
MIRT025498	hsa-miR-34a-5p	Proteomics	21566225
MIRT025498	hsa-miR-34a-5p	Proteomics	21566225
MIRT1170258	hsa-miR-139-5p	CLIP-seq
MIRT1170259	hsa-miR-1827	CLIP-seq
MIRT1170260	hsa-miR-3163	CLIP-seq
MIRT1170261	hsa-miR-3618	CLIP-seq
MIRT1170262	hsa-miR-4320	CLIP-seq
MIRT1170263	hsa-miR-4671-5p	CLIP-seq
MIRT1170264	hsa-miR-4764-5p	CLIP-seq
MIRT1170265	hsa-miR-4768-5p	CLIP-seq
MIRT1170266	hsa-miR-4781-3p	CLIP-seq
MIRT1170267	hsa-miR-4789-3p	CLIP-seq
MIRT1170268	hsa-miR-4797-5p	CLIP-seq
MIRT1170269	hsa-miR-601	CLIP-seq
MIRT1170270	hsa-miR-642b	CLIP-seq
MIRT1170271	hsa-miR-940	CLIP-seq
MIRT1170272	hsa-miR-1243	CLIP-seq
MIRT1170273	hsa-miR-1324	CLIP-seq
MIRT1170274	hsa-miR-3121-3p	CLIP-seq
MIRT1170275	hsa-miR-3913-3p	CLIP-seq
MIRT1170276	hsa-miR-425	CLIP-seq
MIRT1170277	hsa-miR-4257	CLIP-seq
MIRT1170278	hsa-miR-4330	CLIP-seq
MIRT1170264	hsa-miR-4764-5p	CLIP-seq
MIRT1170266	hsa-miR-4781-3p	CLIP-seq
MIRT1170268	hsa-miR-4797-5p	CLIP-seq
MIRT1170279	hsa-miR-489	CLIP-seq
MIRT1170269	hsa-miR-601	CLIP-seq
MIRT1551559	hsa-miR-3074-3p	CLIP-seq
MIRT1551560	hsa-miR-4517	CLIP-seq
MIRT1551559	hsa-miR-3074-3p	CLIP-seq
MIRT2049061	hsa-miR-3180-5p	CLIP-seq
MIRT2049062	hsa-miR-374a	CLIP-seq
MIRT2049063	hsa-miR-374b	CLIP-seq
MIRT2049064	hsa-miR-3908	CLIP-seq
MIRT1170266	hsa-miR-4781-3p	CLIP-seq
MIRT1170269	hsa-miR-601	CLIP-seq
MIRT2049065	hsa-miR-665	CLIP-seq
MIRT2278141	hsa-miR-490-3p	CLIP-seq
MIRT2278142	hsa-miR-649	CLIP-seq
MIRT1551559	hsa-miR-3074-3p	CLIP-seq
MIRT2431450	hsa-miR-323b-5p	CLIP-seq
MIRT2049064	hsa-miR-3908	CLIP-seq
MIRT2431451	hsa-miR-3942-5p	CLIP-seq
MIRT2431452	hsa-miR-3945	CLIP-seq
MIRT2431453	hsa-miR-4253	CLIP-seq
MIRT2431454	hsa-miR-4265	CLIP-seq
MIRT2431455	hsa-miR-4296	CLIP-seq
MIRT2431456	hsa-miR-4322	CLIP-seq
MIRT2431457	hsa-miR-4417	CLIP-seq
MIRT2431458	hsa-miR-4703-5p	CLIP-seq
MIRT2431459	hsa-miR-4766-3p	CLIP-seq
MIRT2576544	hsa-miR-219-2-3p	CLIP-seq
MIRT2576545	hsa-miR-3192	CLIP-seq
MIRT2431450	hsa-miR-323b-5p	CLIP-seq
MIRT2576546	hsa-miR-326	CLIP-seq
MIRT2576547	hsa-miR-330-5p	CLIP-seq
MIRT2576548	hsa-miR-342-5p	CLIP-seq
MIRT2576549	hsa-miR-3667-5p	CLIP-seq
MIRT2576550	hsa-miR-3675-5p	CLIP-seq
MIRT2049062	hsa-miR-374a	CLIP-seq
MIRT2049063	hsa-miR-374b	CLIP-seq
MIRT2049064	hsa-miR-3908	CLIP-seq
MIRT1170275	hsa-miR-3913-3p	CLIP-seq
MIRT2431451	hsa-miR-3942-5p	CLIP-seq
MIRT2431452	hsa-miR-3945	CLIP-seq
MIRT2576551	hsa-miR-423-3p	CLIP-seq
MIRT2431453	hsa-miR-4253	CLIP-seq
MIRT2431454	hsa-miR-4265	CLIP-seq
MIRT2576552	hsa-miR-4273	CLIP-seq
MIRT2576553	hsa-miR-4283	CLIP-seq
MIRT2431455	hsa-miR-4296	CLIP-seq
MIRT2576554	hsa-miR-4314	CLIP-seq
MIRT2431456	hsa-miR-4322	CLIP-seq
MIRT2431457	hsa-miR-4417	CLIP-seq
MIRT2576555	hsa-miR-4455	CLIP-seq
MIRT2576556	hsa-miR-4489	CLIP-seq
MIRT2576557	hsa-miR-4646-5p	CLIP-seq
MIRT2576558	hsa-miR-4651	CLIP-seq
MIRT2576559	hsa-miR-4664-5p	CLIP-seq
MIRT2576560	hsa-miR-4677-5p	CLIP-seq
MIRT2431458	hsa-miR-4703-5p	CLIP-seq
MIRT2431459	hsa-miR-4766-3p	CLIP-seq
MIRT1170279	hsa-miR-489	CLIP-seq
MIRT2278141	hsa-miR-490-3p	CLIP-seq
MIRT2576561	hsa-miR-608	CLIP-seq
MIRT2278142	hsa-miR-649	CLIP-seq
MIRT2576544	hsa-miR-219-2-3p	CLIP-seq
MIRT2576545	hsa-miR-3192	CLIP-seq
MIRT2431450	hsa-miR-323b-5p	CLIP-seq
MIRT2576546	hsa-miR-326	CLIP-seq
MIRT2576547	hsa-miR-330-5p	CLIP-seq
MIRT2576549	hsa-miR-3667-5p	CLIP-seq
MIRT2576550	hsa-miR-3675-5p	CLIP-seq
MIRT2049062	hsa-miR-374a	CLIP-seq
MIRT2049063	hsa-miR-374b	CLIP-seq
MIRT2049064	hsa-miR-3908	CLIP-seq
MIRT1170275	hsa-miR-3913-3p	CLIP-seq
MIRT2431451	hsa-miR-3942-5p	CLIP-seq
MIRT2431452	hsa-miR-3945	CLIP-seq
MIRT2576551	hsa-miR-423-3p	CLIP-seq
MIRT2431453	hsa-miR-4253	CLIP-seq
MIRT2431454	hsa-miR-4265	CLIP-seq
MIRT2576552	hsa-miR-4273	CLIP-seq
MIRT2576553	hsa-miR-4283	CLIP-seq
MIRT2431455	hsa-miR-4296	CLIP-seq
MIRT2576554	hsa-miR-4314	CLIP-seq
MIRT2431456	hsa-miR-4322	CLIP-seq
MIRT2431457	hsa-miR-4417	CLIP-seq
MIRT2576556	hsa-miR-4489	CLIP-seq
MIRT2576557	hsa-miR-4646-5p	CLIP-seq
MIRT2576560	hsa-miR-4677-5p	CLIP-seq
MIRT2431458	hsa-miR-4703-5p	CLIP-seq
MIRT2431459	hsa-miR-4766-3p	CLIP-seq
MIRT1170279	hsa-miR-489	CLIP-seq
MIRT2278141	hsa-miR-490-3p	CLIP-seq
MIRT2278142	hsa-miR-649	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001778	Process	Plasma membrane repair	ISS
GO:0005509	Function	Calcium ion binding	IBA
GO:0005515	Function	Protein binding	IPI	17185750, 24687993
GO:0005543	Function	Phospholipid binding	IDA	11959863
GO:0005543	Function	Phospholipid binding	IEA
GO:0005543	Function	Phospholipid binding	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	TAS	10607832
GO:0005886	Component	Plasma membrane	IDA	26707827
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10607832
GO:0005901	Component	Caveola	ISS
GO:0005929	Component	Cilium	IDA
GO:0006936	Process	Muscle contraction	TAS	10607832
GO:0008015	Process	Blood circulation	TAS	10607832
GO:0016020	Component	Membrane	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0031410	Component	Cytoplasmic vesicle	IDA	11959863
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031902	Component	Late endosome membrane	IDA	26707827
GO:0031965	Component	Nuclear membrane	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0034451	Component	Centriolar satellite	IEA
GO:0036064	Component	Ciliary basal body	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 21362503, 23533145

MIM	HGNC	e!Ensembl
604603	3656	ENSG00000138119

Q9NZM1

Protein name

Myoferlin (Fer-1-like protein 3)

Protein 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

PDB

2DMH , 2K2O , 6EEL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	1 → 103	C2 domain	Domain
PF00168	C2	199 → 302	C2 domain	Domain
PF08151	FerI	303 → 353	FerI (NUC094) domain	Domain
PF00168	C2	358 → 476	C2 domain	Domain
PF08165	FerA	677 → 741	FerA (NUC095) domain	Domain
PF08150	FerB	768 → 841	FerB (NUC096) domain	Domain
PF00168	C2	1139 → 1253	C2 domain	Domain
PF00168	C2	1302 → 1409	C2 domain	Domain
PF00168	C2	1553 → 1655	C2 domain	Domain
PF00168	C2	1788 → 1921	C2 domain	Domain
PF16165	Ferlin_C	1955 → 2056	Ferlin C-terminus	Family

Tissue specificity

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. {ECO:0000269|PubMed:11959863, ECO:0000269|Pub

Sequence

MLRVIVESASNIPKTKFGKPDPIVSVIFKDEKKKTKKVDNELNPVWNEILEFDLRGIPLD
FSSSLGIIVKDFETIGQNKLIGTATVALKDLTGDQSRSLPYKLISLLNEKGQDTGATIDL
VIGYDPPSAPHPNDLSGPSVPGMGGDGEEDEGDEDRLDNAVRGPGPKGPVGTVSEAQLAR
RLTKVKNSRRMLSNKPQDFQIRVRVIEGRQLSGNNIRPVVKVHVCGQTHRTRIKRGNNPF
FDELFFYNVNMTPSELMDEIISIRVYNSHSLRADCLMGEFKIDVGFVYDEPGHAVMRKWL
LLNDPEDTSSGSKGYMKVSMFVLGTGDEPPPERRDRDNDSDDVESNLLLPAGIALRWVTF
LLKIYRAEDIPQMDDAFSQTVKEIFGGNADKKNLVDPFVEVSFAGKKVCTNIIEKNANPE
WNQVVNLQIKFPSVCEKIKLTIYDWDRLTKNDVVGTTYLHLSKIAASGGEVEDFSSSGTG
AASYTVNTGETEVGFVPTFGPCYLNLYGSPREYTGFPDPYDELNTGKGEGVAYRGRILVE
LATFLEKTPPDKKLEPISNDDLLVVEKYQRRRKYSLSAVFHSATMLQDVGEAIQFEVSIG
NYGNKFDTTCKPLASTTQYSRAVFDGNYYYYLPWAHTKPVVTLTSYWEDISHRLDAVNTL
LAMAERLQTNIEALKSGIQGKIPANQLAELWLKLIDEVIEDTRYTLPLTEGKANVTVLDT
QIRKLRSRSLSQIHEAAVRMRSEATDVKSTLAEIEDWLDKLMQLTEEPQNSMPDIIIWMI
RGEKRLAYARIPAHQVLYSTSGENASGKYCGKTQTIFLKYPQEKNNGPKVPVELRVNIWL
GLSAVEKKFNSFAEGTFTVFAEMYENQALMFGKWGTSGLVGRHKFSDVTGKIKLKREFFL
PPKGWEWEGEWIVDPERSLLTEADAGHTEFTDEVYQNESRYPGGDWKPAEDTYTDANGDK
AASPSELTCPPGWEWEDDAWSYDINRAVDEKGWEYGITIPPDHKPKSWVAAEKMYHTHRR
RRLVRKRKKDLTQTASSTARAMEELQDQEGWEYASLIGWKFHWKQRSSDTFRRRRWRRKM
APSETHGAAAIFKLEGALGADTTEDGDEKSLEKQKHSATTVFGANTPIVSCNFDRVYIYH
LRCYVYQARNLLALDKDSFSDPYAHICFLHRSKTTEIIHSTLNPTWDQTIIFDEVEIYGE
PQTVLQNPPKVIMELFDNDQVGKDEFLGRSIFSPVVKLNSEMDITPKLLWHPVMNGDKAC
GDVLVTAELILRGKDGSNLPILPPQRAPNLYMVPQGIRPVVQLTAIEILAWGLRNMKNFQ
MASITSPSLVVECGGERVESVVIKNLKKTPNFPSSVLFMKVFLPKEELYMPPLVIKVIDH
RQFGRKPVVGQCTIERLDRFRCDPYAGKEDIVPQLKASLLSAPPCRDIVIEMEDTKPLLA
SKLTEKEEEIVDWWSKFYASSGEHEKCGQYIQKGYSKLKIYNCELENVAEFEGLTDFSDT
FKLYRGKSDENEDPSVVGEFKGSFRIYPLPDDPSVPAPPRQFRELPDSVPQECTVRIYIV
RGLELQPQDNNGLCDPYIKITLGKKVIEDRDHYIPNTLNPVFGRMYELSCYLPQEKDLKI
SVYDYDTFTRDEKVGETIIDLENRFLSRFGSHCGIPEEYCVSGVNTWRDQLRPTQLLQNV
ARFKGFPQPILSEDGSRIRYGGRDYSLDEFEANKILHQHLGAPEERLALHILRTQGLVPE
HVETRTLHSTFQPNISQGKLQMWVDVFPKSLGPPGPPFNITPRKAKKYYLRVIIWNTKDV
ILDEKSITGEEMSDIYVKGWIPGNEENKQKTDVHYRSLDGEGNFNWRFVFPFDYLPAEQL
CIVAKKEHFWSIDQTEFRIPPRLIIQIWDNDKFSLDDYLGFLELDLRHTIIPAKSPEKCR
LDMIPDLKAMNPLKAKTASLFEQKSMKGWWPCYAEKDGARVMAGKVEMTLEILNEKEADE
RPAGKGRDEPNMNPKLDLPNRPETSFLWFTNPCKTMKFIVWRRFKWVIIGLLFLLILLLF
VAVLLYSLPNYLSMKIVKPNV

Sequence length

2061

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Angioedema, hereditary, 7	Pathogenic	rs1256778304	RCV001507295	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMAS, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ANGIOEDEMA WITH NORMAL C1INH NOT RELATED TO F12 OR PLG VARIANT	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOF-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	24894543	★★★★★ ★☆☆☆☆ Found in Text Mining only
Angioedemas Hereditary	Associate	33593719, 36787826	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Associate	31280198	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	22761893, 25631868	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Associate	29720728, 31926587	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	31280198, 31477752	★★★★★ ★☆☆☆☆ Found in Text Mining only
Death	Stimulate	26919244	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Associate	16707852	★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Associate	32887565	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoma Adult T Cell	Associate	36827461	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	31650199	★★★★★ ★☆☆☆☆ Found in Text Mining only
Limb girdle muscular dystrophy type 2B	Associate	16707852, 18495154	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Associate	23024238	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	29164766, 31477752	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Miyoshi myopathy	Associate	16707852	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Associate	25338682	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	26919244, 31477752	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	23024238, 26919244, 29164766, 31280198, 34957301, 36781600	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	27845903, 29720728	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	29720728	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Stimulate	34957301	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	26919244	★★★★★ ★☆☆☆☆ Found in Text Mining only

MYOF (myoferlin)