Property Summary

NCBI Gene PubMed Count 36
PubMed Score 68.88
PubTator Score 25.55

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
lung carcinoma 2844 9.44174182029551E-38
posterior fossa group A ependymoma 1511 6.09210552459252E-14
juvenile dermatomyositis 1189 1.20722109019103E-12
Duchenne muscular dystrophy 602 7.1644681801269E-10
limb girdle muscular dystrophy 2A 156 6.52984799796643E-7
pilocytic astrocytoma 3086 8.01416356047396E-7
malignant mesothelioma 3163 1.21832775491391E-6
lung cancer 4473 6.6591827260765E-6
ovarian cancer 8492 1.09197560735428E-5
acute quadriplegic myopathy 1157 2.58023418942634E-5
Amyotrophic Lateral Sclerosis 432 9.06025332147789E-5
intraductal papillary-mucinous adenoma (IPMA) 2956 1.37234828963976E-4
psoriasis 6685 1.73908182573829E-4
fascioscapulohumeral muscular dystrophy 100 2.21694925695409E-4
Breast cancer 3099 3.24919939403913E-4
pediatric high grade glioma 2712 5.66354208046991E-4
lung adenocarcinoma 2714 5.76177755749998E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 6.57329698839156E-4
atypical teratoid / rhabdoid tumor 4369 8.99984413844373E-4
pancreatic cancer 2300 0.00188130281799616
glioblastoma 5572 0.0025696164375002
active ulcerative colitis 477 0.00260985907270881
subependymal giant cell astrocytoma 2287 0.00355770299899716
pancreatic ductal adenocarcinoma liver metastasis 1795 0.00489625324383666
tuberculosis and treatment for 6 months 686 0.00610518301482231
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.00612854118560938
pituitary cancer 1972 0.0105769583786457
Becker muscular dystrophy 187 0.0107570957005067
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.011854171448003
mucosa-associated lymphoid tissue lymphoma 480 0.0120339185551324
active Crohn's disease 918 0.0124238464786907
chronic kidney disease 90 0.017153941728318
aldosterone-producing adenoma 664 0.0227888684241938
diabetes mellitus 1663 0.0244909996965316
osteosarcoma 7933 0.0260911050088996
astrocytoma 1493 0.0399964462194819
dermatomyositis 967 0.0420945892742387
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Muscular dystrophy 48 4.642 2.3

Expression

Gene

PANTHER Protein Class (1)

PDB

2DMH   2K2O  

  Ortholog (10)

Species Source
Macaque OMA EggNOG Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid
Zebrafish OMA Inparanoid

 GO Function (1)

 CSPA Cell Line (3)

Gene RIF (18)

PMID Text
26311411 Myoferlin plays a key role in VEGFA secretion and impacts tumor-associated angiogenesis in human pancreas cancer.
25631868 MYOF regulates cell adhesions and cell-substrate adhesion strength and may account for the high degree of motility in invasive breast cancer cells.
23864327 High myoferlin expression is associated with breast cancer.
23859474 Data indicate that dysferlin, otoferlin, and myoferlin do not merely passively adsorb to membranes but actively sculpt lipid bilayers.
23499551 These data provide the first evidence of myoferlin expression in solid human and mouse tumors.
22808170 The effect of myoferlin on the expression of ZO-1 in airway epithelial cells indicates its role in membrane fusion events that regulate cell detachment and apoptosis within the airway epithelium.
22761893 suggest a novel role of MYOF in breast tumor cell invasion and a potential reversion to an epithelial phenotype upon loss of MYOF
22135466 MYOF plays a previously unrecognized role in cancer cell invasion.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
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AA Sequence

MLRVIVESASNIPKTKFGKPDPIVSVIFKDEKKKTKKVDNELNPVWNEILEFDLRGIPLDFSSSLGIIVK      1 - 70
DFETIGQNKLIGTATVALKDLTGDQSRSLPYKLISLLNEKGQDTGATIDLVIGYDPPSAPHPNDLSGPSV     71 - 140
PGMGGDGEEDEGDEDRLDNAVRGPGPKGPVGTVSEAQLARRLTKVKNSRRMLSNKPQDFQIRVRVIEGRQ    141 - 210
LSGNNIRPVVKVHVCGQTHRTRIKRGNNPFFDELFFYNVNMTPSELMDEIISIRVYNSHSLRADCLMGEF    211 - 280
KIDVGFVYDEPGHAVMRKWLLLNDPEDTSSGSKGYMKVSMFVLGTGDEPPPERRDRDNDSDDVESNLLLP    281 - 350
AGIALRWVTFLLKIYRAEDIPQMDDAFSQTVKEIFGGNADKKNLVDPFVEVSFAGKKVCTNIIEKNANPE    351 - 420
WNQVVNLQIKFPSVCEKIKLTIYDWDRLTKNDVVGTTYLHLSKIAASGGEVEDFSSSGTGAASYTVNTGE    421 - 490
TEVGFVPTFGPCYLNLYGSPREYTGFPDPYDELNTGKGEGVAYRGRILVELATFLEKTPPDKKLEPISND    491 - 560
DLLVVEKYQRRRKYSLSAVFHSATMLQDVGEAIQFEVSIGNYGNKFDTTCKPLASTTQYSRAVFDGNYYY    561 - 630
YLPWAHTKPVVTLTSYWEDISHRLDAVNTLLAMAERLQTNIEALKSGIQGKIPANQLAELWLKLIDEVIE    631 - 700
DTRYTLPLTEGKANVTVLDTQIRKLRSRSLSQIHEAAVRMRSEATDVKSTLAEIEDWLDKLMQLTEEPQN    701 - 770
SMPDIIIWMIRGEKRLAYARIPAHQVLYSTSGENASGKYCGKTQTIFLKYPQEKNNGPKVPVELRVNIWL    771 - 840
GLSAVEKKFNSFAEGTFTVFAEMYENQALMFGKWGTSGLVGRHKFSDVTGKIKLKREFFLPPKGWEWEGE    841 - 910
WIVDPERSLLTEADAGHTEFTDEVYQNESRYPGGDWKPAEDTYTDANGDKAASPSELTCPPGWEWEDDAW    911 - 980
SYDINRAVDEKGWEYGITIPPDHKPKSWVAAEKMYHTHRRRRLVRKRKKDLTQTASSTARAMEELQDQEG    981 - 1050
WEYASLIGWKFHWKQRSSDTFRRRRWRRKMAPSETHGAAAIFKLEGALGADTTEDGDEKSLEKQKHSATT   1051 - 1120
VFGANTPIVSCNFDRVYIYHLRCYVYQARNLLALDKDSFSDPYAHICFLHRSKTTEIIHSTLNPTWDQTI   1121 - 1190
IFDEVEIYGEPQTVLQNPPKVIMELFDNDQVGKDEFLGRSIFSPVVKLNSEMDITPKLLWHPVMNGDKAC   1191 - 1260
GDVLVTAELILRGKDGSNLPILPPQRAPNLYMVPQGIRPVVQLTAIEILAWGLRNMKNFQMASITSPSLV   1261 - 1330
VECGGERVESVVIKNLKKTPNFPSSVLFMKVFLPKEELYMPPLVIKVIDHRQFGRKPVVGQCTIERLDRF   1331 - 1400
RCDPYAGKEDIVPQLKASLLSAPPCRDIVIEMEDTKPLLASKLTEKEEEIVDWWSKFYASSGEHEKCGQY   1401 - 1470
IQKGYSKLKIYNCELENVAEFEGLTDFSDTFKLYRGKSDENEDPSVVGEFKGSFRIYPLPDDPSVPAPPR   1471 - 1540
QFRELPDSVPQECTVRIYIVRGLELQPQDNNGLCDPYIKITLGKKVIEDRDHYIPNTLNPVFGRMYELSC   1541 - 1610
YLPQEKDLKISVYDYDTFTRDEKVGETIIDLENRFLSRFGSHCGIPEEYCVSGVNTWRDQLRPTQLLQNV   1611 - 1680
ARFKGFPQPILSEDGSRIRYGGRDYSLDEFEANKILHQHLGAPEERLALHILRTQGLVPEHVETRTLHST   1681 - 1750
FQPNISQGKLQMWVDVFPKSLGPPGPPFNITPRKAKKYYLRVIIWNTKDVILDEKSITGEEMSDIYVKGW   1751 - 1820
IPGNEENKQKTDVHYRSLDGEGNFNWRFVFPFDYLPAEQLCIVAKKEHFWSIDQTEFRIPPRLIIQIWDN   1821 - 1890
DKFSLDDYLGFLELDLRHTIIPAKSPEKCRLDMIPDLKAMNPLKAKTASLFEQKSMKGWWPCYAEKDGAR   1891 - 1960
VMAGKVEMTLEILNEKEADERPAGKGRDEPNMNPKLDLPNRPETSFLWFTNPCKTMKFIVWRRFKWVIIG   1961 - 2030
LLFLLILLLFVAVLLYSLPNYLSMKIVKPNV                                          2031 - 2061
//

Text Mined References (42)

PMID Year Title
26311411 2016 Myoferlin plays a key role in VEGFA secretion and impacts tumor-associated angiogenesis in human pancreas cancer.
25631868 2015 Myoferlin depletion elevates focal adhesion kinase and paxillin phosphorylation and enhances cell-matrix adhesion in breast cancer cells.
24687993 2014 Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation.
23864327 2013 Myoferlin is a key regulator of EGFR activity in breast cancer.
23859474 2013 The C2 domains of otoferlin, dysferlin, and myoferlin alter the packing of lipid bilayers.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23499551 2013 Expression of myoferlin in human and murine carcinoma tumors: role in membrane repair, cell proliferation, and tumorigenesis.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22808170 2012 Expression of myoferlin in human airway epithelium and its role in cell adhesion and zonula occludens-1 expression.
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