Property Summary

NCBI Gene PubMed Count 110
PubMed Score 148.26
PubTator Score 121.77

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
lung carcinoma 2844 1.32180452784768E-34
non-small cell lung cancer 2798 1.37369535170215E-18
pituitary cancer 1972 6.94853048301583E-13
ovarian cancer 8492 6.49478026573954E-11
juvenile dermatomyositis 1189 3.26158981774344E-9
lung adenocarcinoma 2714 4.33296119222371E-9
Duchenne muscular dystrophy 602 1.0084734008304E-8
astrocytoma 1493 3.87514058646603E-8
Breast cancer 3099 8.7749451256568E-8
acute quadriplegic myopathy 1157 1.32432349749313E-5
limb girdle muscular dystrophy 2A 156 1.45670661036235E-5
group 4 medulloblastoma 1875 1.85794646469225E-5
fascioscapulohumeral muscular dystrophy 100 5.46743443824416E-5
psoriasis 6685 1.02505010262323E-4
breast carcinoma 1614 1.03385529823737E-4
ductal carcinoma in situ 1745 1.6031579897257E-4
invasive ductal carcinoma 2950 2.66133116528002E-4
oligodendroglioma 2849 3.10803659106415E-4
Atopic dermatitis 944 4.62333082115276E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 4.64751681754055E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 7.07507277025948E-4
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.00152763407575177
medulloblastoma, large-cell 6234 0.00171332536865129
lung cancer 4473 0.00216175304310821
glioblastoma 5572 0.00219974498900181
posterior fossa group A ependymoma 1511 0.00301369872671096
primary pancreatic ductal adenocarcinoma 1271 0.00328482658457135
Becker muscular dystrophy 187 0.00340865590258881
pancreatic cancer 2300 0.00450952950783365
Down syndrome 548 0.0104198381995561
dermatomyositis 967 0.018563329742029
ulcerative colitis 2087 0.0186948964440283
adrenocortical carcinoma 1427 0.0192672975543917
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0232146761729761
aldosterone-producing adenoma 664 0.0412978899363981
Disease Target Count Z-score Confidence
Acquired metabolic disease 267 0.0 2.0
Amyotrophic Lateral Sclerosis 432 0.0 1.0
Disease Target Count
Doyne honeycomb retinal dystrophy 3

Expression

Synonym

Accession Q12805 A8K3I4 B4DW75 D6W5D2 Q541U7
Symbols DHRD
DRAD
FBNL
MLVT
MTLV
S1-5
FBLN3
FIBL-3

Gene

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA EggNOG Inparanoid

 IMPC Term (1)

 CSPA Cell Line (1)

Gene RIF (77)

PMID Text
27048115 The polymorphisms of EFEMP1 gene were associated with breast cancer and might contribute to the susceptibility of the progression of breast cancer in Chinese Han women.
26823870 The results of our study suggested an association between the EFEMP1 rs3791679 polymorphism and an elevated risk of glioma, especially in those with family history of glioma.
26702771 The EFEMP1 gene is significantly down-regulated in leiomyoma compared with myometrium.
26686553 Novel inguinal hernia susceptibility genes are identified as EFEMP1, WT1, EBF2 and ADAMTS6.
26638921 Median FBLN-3 concentrations were 12.96.
26592829 It was concluded that fibulin-3 is expressed at a lower level in colon cancer, and it can serve as a marker for advanced colon cancer.
26507503 Suggest that FBLN-1 may play a role in arterial stiffening in patients with atherosclerosis.
26427406 Studies indicate Arg345Trp (R345W) mutation in fibulin-3 (F3) as the cause of a rare retinal dystrophy, Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy (ML/DHRD).
26162006 The recent finding that a common variant near EFEMP1 was associated with optic nerve-head morphology supports the possibility that the EFEMP1 variant identified in this Primary open-angle glaucoma family may be pathogenic.
26037350 R345W mutation in EFEMP1 is responsible for the dominant retinal drusen.
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AA Sequence

MLKALFLTMLTLALVKSQDTEETITYTQCTDGYEWDPVRQQCKDIDECDIVPDACKGGMKCVNHYGGYLC      1 - 70
LPKTAQIIVNNEQPQQETQPAEGTSGATTGVVAASSMATSGVLPGGGFVASAAAVAGPEMQTGRNNFVIR     71 - 140
RNPADPQRIPSNPSHRIQCAAGYEQSEHNVCQDIDECTAGTHNCRADQVCINLRGSFACQCPPGYQKRGE    141 - 210
QCVDIDECTIPPYCHQRCVNTPGSFYCQCSPGFQLAANNYTCVDINECDASNQCAQQCYNILGSFICQCN    211 - 280
QGYELSSDRLNCEDIDECRTSSYLCQYQCVNEPGKFSCMCPQGYQVVRSRTCQDINECETTNECREDEMC    281 - 350
WNYHGGFRCYPRNPCQDPYILTPENRCVCPVSNAMCRELPQSIVYKYMSIRSDRSVPSDIFQIQATTIYA    351 - 420
NTINTFRIKSGNENGEFYLRQTSPVSAMLVLVKSLSGPREHIVDLEMLTVSSIGTFRTSSVLRLTIIVGP    421 - 490
FSF                                                                       491 - 493
//

Text Mined References (113)

PMID Year Title
27048115 2016 Association between genetic variants of EGF-containing fibulin-like extracellular matrix protein1 gene and sporadic breast cancer in a Chinese Han population.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26823870 2015 EFEMP1 rs3791679 polymorphism was associated with susceptibility to glioma.
26702771 2016 Epidermal growth factor-containing fibulin-like extracellular matrix protein 1 expression and regulation in uterine leiomyoma.
26686553 2015 A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia.
26638921 2015 FBLN-3 as a biomarker of pleural plaques in workers occupationally exposed to carcinogenic fibers: a pilot study.
26592829 2015 Decreased preoperative serum fibulin-3 levels in colon cancer patients.
26507503 2016 Association Between Fibulin-1 and Aortic Augmentation Index in Male Patients with Peripheral Arterial Disease.
26427406 2016 Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy: Similarities to Age-Related Macular Degeneration and Potential Therapies.
26162006 2015 Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.
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