Property Summary

NCBI Gene PubMed Count 121
PubMed Score 311.93
PubTator Score 313.92

Knowledge Summary

Patent (40,955)

TINX Plot

  Disease Sources (8)

Disease Target Count
Epilepsy 346
Administration of Corneal Anesthesia 6
Administration of Local Anesthetic Nerve Block 14
Administration of Regional Anesthesia 7
Anesthesia for cesarean section 8
Bipolar affective disorder, current episode manic 13
Bipolar disorder in remission 19
Cough 21
Dysuria 24
Epilepsy characterized by intractable complex partial seizures 28
Glossopharyngeal neuralgia 4
Hemorrhoids 13
Infestation by Phthirus pubis 7
Infestation by Sarcoptes scabiei var hominis 7
Itching of skin 19
Lennox-Gastaut syndrome 34
Life-Threatening Ventricular Tachycardia 15
Local Anesthesia for Endotracheal Intubation 6
Local Anesthesia for Ophthalmologic Procedure 7
Local Anesthesia for Urethral Pain 6
Local anesthesia 40
Local anesthesia, by infiltration 14
Local anesthetic intrathecal block 7
Localization-related epilepsy 13
Major Nerve Block for Surgery 8
Minor Skin Wound Pain 12
Mixed Epilepsy 3
Mixed bipolar I disorder 9
Motor cortex epilepsy 10
Mouth Irritation 12
Neuralgia 16
Parkinsonism 19
Partial Epilepsy Treatment Adjunct 16
Partial seizure 15
Pediculosis capitis 7
Postherpetic neuralgia 12
Premature ejaculation 16
Prevent Minor Bacterial Skin Infection 10
Prevention of Seizures following Cranial Trauma or Surgery 7
Pruritus ani 14
Regional Anesthesia for Labor Pain 9
Regional Anesthesia for Ophthalmologic Surgery 6
Regional Anesthesia for Postoperative Pain 9
Regional Anesthesia for Surgery 9
Seizures in Neurosurgery 7
Simple partial seizure 26
Skin irritation 12
Sore throat symptom 12
Spasticity 26
Status Epilepticus 85
Suppression of the Gag Reflex 12
Tinea Infections 10
Tinea corporis 25
Tinea pedis 30
Tonic-clonic epilepsy 47
Tonic-clonic seizure 11
Trigeminal neuralgia 13
Urethritis 10
Urinary Tract Irritation 24
Ventricular arrhythmia 14
Disease Target Count P-value
malignant mesothelioma 3163 1.69267551526515E-9
colon cancer 1475 2.01912721237695E-7
pilocytic astrocytoma 3086 5.37486219387809E-7
lung cancer 4473 2.62909662109748E-4
osteosarcoma 7933 5.52848964376919E-4
cystic fibrosis 1670 5.9174494341312E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 8.88013157687444E-4
pituitary cancer 1972 9.06491302898024E-4
posterior fossa group B ependymoma 1530 0.0178691009147687
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Hereditary sensory neuropathy 6 0.0 5.0

Expression

  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma -5.700 0.000
osteosarcoma -1.990 0.001
cystic fibrosis 1.690 0.001
intraductal papillary-mucinous adenoma (... -1.400 0.001
colon cancer -2.900 0.000
lung cancer -1.900 0.000
pilocytic astrocytoma 2.300 0.000
posterior fossa group B ependymoma 1.100 0.018
pituitary cancer 2.000 0.001

Synonym

Accession Q15858 A1BUH5 Q6B4R9 Q6B4S0 Q6B4S1 Q70HX1 Q70HX2 Q8WTU1 Q8WWN4
Symbols PN1
ETHA
NENA
SFNP
FEB3B
NE-NA
GEFSP7
HSAN2D
Nav1.7

Gene

PDB

5EK0  

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG
Platypus OMA EggNOG

Gene RIF (112)

PMID Text
26920677 Patients with the SCN9A mutation with inherited erythromelalgia were characterized for the pain phenotype among individuals.
26752484 Postoperative pain was affected by SCN9A genetic variability in gynecological surgical patients.
26634308 Nav1.7 deletion has profound effects on gene expression, leading to an upregulation of enkephalin precursor Penk mRNA and met-enkephalin protein in sensory neurons.
26486037 We report the case of a 6-year-old girl with a SCN9A mutation who presented with both gain of function and loss of function phenotypes, including congenital corneal anesthesia.
26168879 These findings provided evidence that the variability of basal pain sensitivity was associated with SCN9A polymorphisms in the general population.
25995458 Novel SCN9A mutations altering Nav1.7 channel activation were found families with inherited erythromelalgia, paroxysmal extreme pain disorder and congenital insensitivity to pain.
25957174 the activity of mutant Nav1.7 channels in smooth muscle cells of skin vasculature and innervating sensory and sympathetic fibers contribute to the skin reddening
25585270 Association of SCN9A variants with neuropathic pain and pain severity suggests a role of SCN9A in the disease etiology of neuropathic pain
25575597 Nav1.7 mutations are associated with pain syndromes including erythromelalgia.
25285947 The novel p.L1612P Nav1.7 mutation expands the paroxysmal extreme pain disorder spectrum with a unique combination of clinical symptoms and electrophysiological properties
More...

AA Sequence

MAMLPPPGPQSFVHFTKQSLALIEQRIAERKSKEPKEEKKDDDEEAPKPSSDLEAGKQLPFIYGDIPPGM      1 - 70
VSEPLEDLDPYYADKKTFIVLNKGKTIFRFNATPALYMLSPFSPLRRISIKILVHSLFSMLIMCTILTNC     71 - 140
IFMTMNNPPDWTKNVEYTFTGIYTFESLVKILARGFCVGEFTFLRDPWNWLDFVVIVFAYLTEFVNLGNV    141 - 210
SALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLKHKCFRNSL    211 - 280
ENNETLESIMNTLESEEDFRKYFYYLEGSKDALLCGFSTDSGQCPEGYTCVKIGRNPDYGYTSFDTFSWA    281 - 350
FLALFRLMTQDYWENLYQQTLRAAGKTYMIFFVVVIFLGSFYLINLILAVVAMAYEEQNQANIEEAKQKE    351 - 420
LEFQQMLDRLKKEQEEAEAIAAAAAEYTSIRRSRIMGLSESSSETSKLSSKSAKERRNRRKKKNQKKLSS    421 - 490
GEEKGDAEKLSKSESEDSIRRKSFHLGVEGHRRAHEKRLSTPNQSPLSIRGSLFSARRSSRTSLFSFKGR    491 - 560
GRDIGSETEFADDEHSIFGDNESRRGSLFVPHRPQERRSSNISQASRSPPMLPVNGKMHSAVDCNGVVSL    561 - 630
VDGRSALMLPNGQLLPEVIIDKATSDDSGTTNQIHKKRRCSSYLLSEDMLNDPNLRQRAMSRASILTNTV    631 - 700
EELEESRQKCPPWWYRFAHKFLIWNCSPYWIKFKKCIYFIVMDPFVDLAITICIVLNTLFMAMEHHPMTE    701 - 770
EFKNVLAIGNLVFTGIFAAEMVLKLIAMDPYEYFQVGWNIFDSLIVTLSLVELFLADVEGLSVLRSFRLL    771 - 840
RVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKINDDCTLPRWHM    841 - 910
NDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVYMMVMVIGNLVVLNLFLALLLSSFSSDNLTAIE    911 - 980
EDPDANNLQIAVTRIKKGINYVKQTLREFILKAFSKKPKISREIRQAEDLNTKKENYISNHTLAEMSKGH    981 - 1050
NFLKEKDKISGFGSSVDKHLMEDSDGQSFIHNPSLTVTVPIAPGESDLENMNAEELSSDSDSEYSKVRLN   1051 - 1120
RSSSSECSTVDNPLPGEGEEAEAEPMNSDEPEACFTDGCVWRFSCCQVNIESGKGKIWWNIRKTCYKIVE   1121 - 1190
HSWFESFIVLMILLSSGALAFEDIYIERKKTIKIILEYADKIFTYIFILEMLLKWIAYGYKTYFTNAWCW   1191 - 1260
LDFLIVDVSLVTLVANTLGYSDLGPIKSLRTLRALRPLRALSRFEGMRVVVNALIGAIPSIMNVLLVCLI   1261 - 1330
FWLIFSIMGVNLFAGKFYECINTTDGSRFPASQVPNRSECFALMNVSQNVRWKNLKVNFDNVGLGYLSLL   1331 - 1400
QVATFKGWTIIMYAAVDSVNVDKQPKYEYSLYMYIYFVVFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGQ   1401 - 1470
DIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKIQGCIFDLVTNQAFDISIMVLICLNMVTMMVEKEGQS   1471 - 1540
QHMTEVLYWINVVFIILFTGECVLKLISLRHYYFTVGWNIFDFVVVIISIVGMFLADLIETYFVSPTLFR   1541 - 1610
VIRLARIGRILRLVKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKKEDGINDMFN   1611 - 1680
FETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPKKVHPGSSVEGDCGNPSVGIFYFVSYIIISFLV   1681 - 1750
VVNMYIAVILENFSVATEESTEPLSEDDFEMFYEVWEKFDPDATQFIEFSKLSDFAAALDPPLLIAKPNK   1751 - 1820
VQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDSLRSQMEERFMSANPSKVSYEPITTTLKRKQED   1821 - 1890
VSATVIQRAYRRYRLRQNVKNISSIYIKDGDRDDDLLNKKDMAFDNVNENSSPEKTDATSSTTSPPSYDS   1891 - 1960
VTKPDKEKYEQDRTEKEDKGKDSKESKK                                             1961 - 1988
//

Text Mined References (123)

PMID Year Title
26920677 2016 Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile.
26752484 2016 Genotypic Analysis of SCN9A for Prediction of Postoperative Pain in Female Patients Undergoing Gynecological Laparoscopic Surgery.
26680203 2015 Structural basis of Nav1.7 inhibition by an isoform-selective small-molecule antagonist.
26634308 2015 Endogenous opioids contribute to insensitivity to pain in humans and mice lacking sodium channel Nav1.7.
26486037 2015 Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder.
26168879 2015 The Effect of SCN9A Variation on Basal Pain Sensitivity in the General Population: An Experimental Study in Young Women.
25995458 2015 Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations.
25957174 2015 Sodium channel Nav1.7 in vascular myocytes, endothelium, and innervating axons in human skin.
25585270 2015 SCN9A Variants May be Implicated in Neuropathic Pain Associated With Diabetic Peripheral Neuropathy and Pain Severity.
25575597 2015 Erythromelalgia mutation Q875E Stabilizes the activated state of sodium channel Nav1.7.
More...