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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6335
Gene name Gene Name - the full gene name approved by the HGNC.	Sodium voltage-gated channel alpha subunit 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SCN9A
Synonyms (NCBI Gene) Gene synonyms aliases	ETHA, FEB3B, GEFSP7, HSAN2D, NE-NA, NENA, Nav1.7, PN1, SFNP
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a voltage-gated sodium channel which plays a significant role in nociception signaling. Mutations in this gene have been associated with primary erythermalgia, channelopathy-associated insensitivity to pain, and paroxysmal extreme pain d

Show/Hide all(19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs71428908	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant, intron variant
rs80356468	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs80356469	A>G	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs80356470	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs121908916	G>A,T	Uncertain-significance, pathogenic	Non coding transcript variant, stop gained, coding sequence variant, synonymous variant
rs121908920	T>C	Uncertain-significance, pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant, genic upstream transcript variant
rs121908921	G>A,T	Pathogenic	Non coding transcript variant, upstream transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs188814235	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200972952	G>A,T	Pathogenic, uncertain-significance	Genic upstream transcript variant, intron variant, upstream transcript variant
rs201905108	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs267607030	T>C	Pathogenic, likely-benign	Non coding transcript variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs376908183	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, non coding transcript variant, synonymous variant
rs377543079	G>A	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, stop gained
rs755067851	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1553498017	C>A	Pathogenic	Stop gained, upstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs1559027674	CA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1559030991	CTT>-	Likely-pathogenic	Upstream transcript variant, coding sequence variant, inframe deletion, genic upstream transcript variant, intron variant, non coding transcript variant
rs1574903287	->AA	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1574906521	TGGGTTATTCATGGTCA>C	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant

Show/Hide all(173)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018700	hsa-miR-335-5p	Microarray	18185580
MIRT527155	hsa-miR-1323	PAR-CLIP	20371350
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	20371350
MIRT527153	hsa-miR-532-3p	PAR-CLIP	20371350
MIRT527152	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT527151	hsa-miR-3977	PAR-CLIP	20371350
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	20371350
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT527155	hsa-miR-1323	PAR-CLIP	20371350
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	20371350
MIRT527153	hsa-miR-532-3p	PAR-CLIP	20371350
MIRT527152	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT527151	hsa-miR-3977	PAR-CLIP	20371350
MIRT527150	hsa-miR-4263	PAR-CLIP	20371350
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	20371350
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT527155	hsa-miR-1323	PAR-CLIP	22012620
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	22012620
MIRT527153	hsa-miR-532-3p	PAR-CLIP	22012620
MIRT527152	hsa-miR-188-3p	PAR-CLIP	22012620
MIRT527151	hsa-miR-3977	PAR-CLIP	22012620
MIRT527150	hsa-miR-4263	PAR-CLIP	22012620
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	22012620
MIRT527155	hsa-miR-1323	PAR-CLIP	26701625
MIRT527155	hsa-miR-1323	PAR-CLIP	26701625
MIRT527155	hsa-miR-1323	PAR-CLIP	26701625
MIRT527152	hsa-miR-188-3p	PAR-CLIP	26701625
MIRT527152	hsa-miR-188-3p	PAR-CLIP	26701625
MIRT527152	hsa-miR-188-3p	PAR-CLIP	26701625
MIRT527151	hsa-miR-3977	PAR-CLIP	26701625
MIRT527151	hsa-miR-3977	PAR-CLIP	26701625
MIRT527151	hsa-miR-3977	PAR-CLIP	26701625
MIRT527153	hsa-miR-532-3p	PAR-CLIP	26701625
MIRT527153	hsa-miR-532-3p	PAR-CLIP	26701625
MIRT527153	hsa-miR-532-3p	PAR-CLIP	26701625
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	26701625
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	26701625
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	26701625
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	26701625
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	26701625
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	26701625
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	26701625
MIRT527155	hsa-miR-1323	PAR-CLIP	27292025
MIRT527155	hsa-miR-1323	PAR-CLIP	27292025
MIRT527155	hsa-miR-1323	PAR-CLIP	27292025
MIRT527155	hsa-miR-1323	PAR-CLIP	27292025
MIRT527152	hsa-miR-188-3p	PAR-CLIP	27292025
MIRT527152	hsa-miR-188-3p	PAR-CLIP	27292025
MIRT527152	hsa-miR-188-3p	PAR-CLIP	27292025
MIRT527152	hsa-miR-188-3p	PAR-CLIP	27292025
MIRT527151	hsa-miR-3977	PAR-CLIP	27292025
MIRT527151	hsa-miR-3977	PAR-CLIP	27292025
MIRT527151	hsa-miR-3977	PAR-CLIP	27292025
MIRT527151	hsa-miR-3977	PAR-CLIP	27292025
MIRT527153	hsa-miR-532-3p	PAR-CLIP	27292025
MIRT527153	hsa-miR-532-3p	PAR-CLIP	27292025
MIRT527153	hsa-miR-532-3p	PAR-CLIP	27292025
MIRT527153	hsa-miR-532-3p	PAR-CLIP	27292025
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	27292025
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	27292025
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	27292025
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	27292025
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	27292025
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	27292025
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	27292025
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	27292025
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	27292025
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	27292025
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	27292025
MIRT527155	hsa-miR-1323	PAR-CLIP	20371350
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	20371350
MIRT527153	hsa-miR-532-3p	PAR-CLIP	20371350
MIRT527152	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT527151	hsa-miR-3977	PAR-CLIP	20371350
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	20371350
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	20371350
MIRT527155	hsa-miR-1323	PAR-CLIP	20371350
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	20371350
MIRT527153	hsa-miR-532-3p	PAR-CLIP	20371350
MIRT527152	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT527151	hsa-miR-3977	PAR-CLIP	20371350
MIRT527150	hsa-miR-4263	PAR-CLIP	20371350
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	20371350
MIRT527156	hsa-miR-548c-3p	PAR-CLIP	22012620
MIRT527155	hsa-miR-1323	PAR-CLIP	22012620
MIRT527154	hsa-miR-548o-3p	PAR-CLIP	22012620
MIRT527153	hsa-miR-532-3p	PAR-CLIP	22012620
MIRT527152	hsa-miR-188-3p	PAR-CLIP	22012620
MIRT527151	hsa-miR-3977	PAR-CLIP	22012620
MIRT527150	hsa-miR-4263	PAR-CLIP	22012620
MIRT527149	hsa-miR-6885-3p	PAR-CLIP	22012620
MIRT1330303	hsa-miR-1207-5p	CLIP-seq
MIRT1330304	hsa-miR-3143	CLIP-seq
MIRT1330305	hsa-miR-3179	CLIP-seq
MIRT1330306	hsa-miR-3622b-5p	CLIP-seq
MIRT1330307	hsa-miR-3921	CLIP-seq
MIRT1330308	hsa-miR-4645-3p	CLIP-seq
MIRT1330309	hsa-miR-4645-5p	CLIP-seq
MIRT1330310	hsa-miR-4653-5p	CLIP-seq
MIRT1330311	hsa-miR-4662a-5p	CLIP-seq
MIRT1330312	hsa-miR-4673	CLIP-seq
MIRT1330313	hsa-miR-4676-5p	CLIP-seq
MIRT1330314	hsa-miR-4736	CLIP-seq
MIRT1330315	hsa-miR-4755-3p	CLIP-seq
MIRT1330316	hsa-miR-4763-3p	CLIP-seq
MIRT1330317	hsa-miR-4766-5p	CLIP-seq
MIRT1330318	hsa-miR-4768-5p	CLIP-seq
MIRT1330319	hsa-miR-4781-3p	CLIP-seq
MIRT1330320	hsa-miR-488	CLIP-seq
MIRT1330321	hsa-miR-543	CLIP-seq
MIRT1330322	hsa-miR-575	CLIP-seq
MIRT1330323	hsa-miR-602	CLIP-seq
MIRT1553248	hsa-miR-1285	CLIP-seq
MIRT1553249	hsa-miR-3187-5p	CLIP-seq
MIRT1553250	hsa-miR-612	CLIP-seq
MIRT1553251	hsa-miR-661	CLIP-seq
MIRT1330303	hsa-miR-1207-5p	CLIP-seq
MIRT2097841	hsa-miR-338-3p	CLIP-seq
MIRT1330314	hsa-miR-4736	CLIP-seq
MIRT1330316	hsa-miR-4763-3p	CLIP-seq
MIRT1330319	hsa-miR-4781-3p	CLIP-seq
MIRT2322126	hsa-miR-105	CLIP-seq
MIRT2322127	hsa-miR-1273e	CLIP-seq
MIRT2322128	hsa-miR-1827	CLIP-seq
MIRT2322129	hsa-miR-24	CLIP-seq
MIRT2322130	hsa-miR-296-3p	CLIP-seq
MIRT2322131	hsa-miR-3182	CLIP-seq
MIRT1330306	hsa-miR-3622b-5p	CLIP-seq
MIRT2322132	hsa-miR-3661	CLIP-seq
MIRT2322133	hsa-miR-3689a-3p	CLIP-seq
MIRT2322134	hsa-miR-3689c	CLIP-seq
MIRT2322135	hsa-miR-3929	CLIP-seq
MIRT2322136	hsa-miR-4284	CLIP-seq
MIRT2322137	hsa-miR-4419b	CLIP-seq
MIRT2322138	hsa-miR-4459	CLIP-seq
MIRT2322139	hsa-miR-4478	CLIP-seq
MIRT2322140	hsa-miR-4649-3p	CLIP-seq
MIRT2322141	hsa-miR-4722-5p	CLIP-seq
MIRT2322142	hsa-miR-4728-5p	CLIP-seq
MIRT2322143	hsa-miR-4779	CLIP-seq
MIRT2322144	hsa-miR-4802-3p	CLIP-seq
MIRT2322145	hsa-miR-485-5p	CLIP-seq
MIRT2322146	hsa-miR-548n	CLIP-seq
MIRT2322147	hsa-miR-548t	CLIP-seq
MIRT2322148	hsa-miR-561	CLIP-seq
MIRT2322149	hsa-miR-631	CLIP-seq
MIRT2322150	hsa-miR-769-5p	CLIP-seq
MIRT2322151	hsa-miR-890	CLIP-seq
MIRT2322152	hsa-miR-940	CLIP-seq
MIRT2394094	hsa-miR-4699-3p	CLIP-seq
MIRT1553248	hsa-miR-1285	CLIP-seq
MIRT1553249	hsa-miR-3187-5p	CLIP-seq
MIRT2458962	hsa-miR-3672	CLIP-seq
MIRT2458963	hsa-miR-4293	CLIP-seq
MIRT2458964	hsa-miR-451b	CLIP-seq
MIRT2458965	hsa-miR-4696	CLIP-seq
MIRT2458966	hsa-miR-596	CLIP-seq
MIRT1553250	hsa-miR-612	CLIP-seq
MIRT1553251	hsa-miR-661	CLIP-seq
MIRT2458963	hsa-miR-4293	CLIP-seq
MIRT2458966	hsa-miR-596	CLIP-seq
MIRT1553251	hsa-miR-661	CLIP-seq
MIRT1553248	hsa-miR-1285	CLIP-seq
MIRT1553249	hsa-miR-3187-5p	CLIP-seq
MIRT2458962	hsa-miR-3672	CLIP-seq
MIRT2458963	hsa-miR-4293	CLIP-seq
MIRT2458964	hsa-miR-451b	CLIP-seq
MIRT2458965	hsa-miR-4696	CLIP-seq
MIRT2458966	hsa-miR-596	CLIP-seq
MIRT1553250	hsa-miR-612	CLIP-seq
MIRT1553251	hsa-miR-661	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
USF1	Unknown	8923453

Show/Hide all(36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IEA
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IBA
GO:0005248	Function	Voltage-gated sodium channel activity	IDA	7720699, 17145499
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	37117223
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	17145499
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0009791	Process	Post-embryonic development	IEA
GO:0016020	Component	Membrane	IEA
GO:0019228	Process	Neuronal action potential	IDA	30795902
GO:0019233	Process	Sensory perception of pain	IMP	17145499, 30795902
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0033268	Component	Node of Ranvier	IDA	30795902
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043679	Component	Axon terminus	IDA	30795902
GO:0048266	Process	Behavioral response to pain	IEA
GO:0050965	Process	Detection of temperature stimulus involved in sensory perception of pain	IEA
GO:0050974	Process	Detection of mechanical stimulus involved in sensory perception	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0098870	Process	Action potential propagation	IDA	7720699, 17145499

MIM	HGNC	e!Ensembl
603415	10597	ENSG00000169432

Protein

UniProt ID

Q15858

Protein name

Sodium channel protein type 9 subunit alpha (Neuroendocrine sodium channel) (hNE-Na) (Peripheral sodium channel 1) (PN1) (Sodium channel protein type IX subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.7)

Protein function

Pore-forming subunit of Nav1.7, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent s

PDB

5EK0 , 6J8G , 6J8H , 6J8I , 6J8J , 6N4Q , 6N4R , 6NT3 , 6NT4 , 6VXO , 6W6O , 7K48 , 7W9K , 7W9L , 7W9M , 7W9P , 7W9T , 7XM9 , 7XMF , 7XMG , 7XVE , 7XVF , 8F0P , 8F0Q , 8F0R , 8F0S , 8G1A , 8I5B , 8I5G , 8I5X , 8I5Y , 8J4F , 8S9B , 8S9C , 8THG , 8THH , 8XMM , 8XMN , 8XMO , 8YHZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	125 → 412	Ion transport protein	Family
PF11933	Na_trans_cytopl	484 → 694	Cytoplasmic domain of voltage-gated Na+ ion channel	Family
PF00520	Ion_trans	743 → 978	Ion transport protein	Family
PF06512	Na_trans_assoc	982 → 1187	Sodium ion transport-associated	Family
PF00520	Ion_trans	1191 → 1468	Ion transport protein	Family
PF00520	Ion_trans	1514 → 1771	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed strongly in dorsal root ganglion, with only minor levels elsewhere in the body, smooth muscle cells, MTC cell line and C-cell carcinoma. Also expressed in vagus nerves within the head and neck region (PubMed:31647222). Isofor

Sequence

MAMLPPPGPQSFVHFTKQSLALIEQRIAERKSKEPKEEKKDDDEEAPKPSSDLEAGKQLP
FIYGDIPPGMVSEPLEDLDPYYADKKTFIVLNKGKTIFRFNATPALYMLSPFSPLRRISI
KILVHSLFSMLIMCTILTNCIFMTMNNPPDWTKNVEYTFTGIYTFESLVKILARGFCVGE
FTFLRDPWNWLDFVVIVFAYLTEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQ
SVKKLSDVMILTVFCLSVFALIGLQLFMGNLKHKCFRNSLENNETLESIMNTLESEEDFR
KYFYYLEGSKDALLCGFSTDSGQCPEGYTCVKIGRNPDYGYTSFDTFSWAFLALFRLMTQ
DYWENLYQQTLRAAGKTYMIFFVVVIFLGSFYLINLILAVVAMAYEEQNQANIEEAKQKE
LEFQQMLDRLKKEQEEAEAIAAAAAEYTSIRRSRIMGLSESSSETSKLSSKSAKERRNRR
KKKNQKKLSSGEEKGDAEKLSKSESEDSIRRKSFHLGVEGHRRAHEKRLSTPNQSPLSIR
GSLFSARRSSRTSLFSFKGRGRDIGSETEFADDEHSIFGDNESRRGSLFVPHRPQERRSS
NISQASRSPPMLPVNGKMHSAVDCNGVVSLVDGRSALMLPNGQLLPEVIIDKATSDDSGT
TNQIHKKRRCSSYLLSEDMLNDPNLRQRAMSRASILTNTVEELEESRQKCPPWWYRFAHK
FLIWNCSPYWIKFKKCIYFIVMDPFVDLAITICIVLNTLFMAMEHHPMTEEFKNVLAIGN
LVFTGIFAAEMVLKLIAMDPYEYFQVGWNIFDSLIVTLSLVELFLADVEGLSVLRSFRLL
RVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKIN
DDCTLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVYMMVMVIGNLVVL
NLFLALLLSSFSSDNLTAIEEDPDANNLQIAVTRIKKGINYVKQTLREFILKAFSKKPKI
SREIRQAEDLNTKKENYISNHTLAEMSKGHNFLKEKDKISGFGSSVDKHLMEDSDGQSFI
HNPSLTVTVPIAPGESDLENMNAEELSSDSDSEYSKVRLNRSSSSECSTVDNPLPGEGEE
AEAEPMNSDEPEACFTDGCVWRFSCCQVNIESGKGKIWWNIRKTCYKIVEHSWFESFIVL
MILLSSGALAFEDIYIERKKTIKIILEYADKIFTYIFILEMLLKWIAYGYKTYFTNAWCW
LDFLIVDVSLVTLVANTLGYSDLGPIKSLRTLRALRPLRALSRFEGMRVVVNALIGAIPS
IMNVLLVCLIFWLIFSIMGVNLFAGKFYECINTTDGSRFPASQVPNRSECFALMNVSQNV
RWKNLKVNFDNVGLGYLSLLQVATFKGWTIIMYAAVDSVNVDKQPKYEYSLYMYIYFVVF
IIFGSFFTLNLFIGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRP
GNKIQGCIFDLVTNQAFDISIMVLICLNMVTMMVEKEGQSQHMTEVLYWINVVFIILFTG
ECVLKLISLRHYYFTVGWNIFDFVVVIISIVGMFLADLIETYFVSPTLFRVIRLARIGRI
LRLVKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKKEDGINDMFN
FETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPKKVHPGSSVEGDCGNPSVGIFYF
VSYIIISFLVVVNMYIAVILENFSVATEESTEPLSEDDFEMFYEVWEKFDPDATQFIEFS
KLSDFAAALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDSLR
SQMEERFMSANPSKVSYEPITTTLKRKQEDVSATVIQRAYRRYRLRQNVKNISSIYIKDG
DRDDDLLNKKDMAFDNVNENSSPEKTDATSSTTSPPSYDSVTKPDKEKYEQDRTEKEDKG
KDSKESKK

Sequence length

1988

Interactions

View interactions

	KEGG		Reactome
	Taste transduction		Phase 0 - rapid depolarisation

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Erythromelalgia	primary erythromelalgia	rs1553491169, rs80356476, rs80356469, rs80356473, rs80356475, rs80356474, rs80356478	N/A
Generalized Epilepsy with Febrile Seizures Plus	Generalized epilepsy with febrile seizures plus, type 7	rs794729216	N/A
Hereditary sensory and autonomic neuropathy	Neuropathy, hereditary sensory and autonomic, type 2A	rs1559030991, rs1574706911, rs1574843584	N/A
Paroxysmal extreme pain disorder	paroxysmal extreme pain disorder	rs121908914, rs121908915, rs879253994, rs1131691776, rs121908911, rs1553474394, rs121908912, rs121908913	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Biliary Atresia	Biliary atresia	N/A	N/A	GWAS
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	N/A	N/A	ClinVar
Dental caries	Dental caries	N/A	N/A	GWAS
Epilepsy	epilepsy	N/A	N/A	ClinVar
FEBRILE SEIZURES	febrile seizures, familial, 3b	N/A	N/A	ClinVar
Microcephaly	microcephaly	N/A	N/A	ClinVar
Myoclonic Epilepsy	Severe myoclonic epilepsy in infancy	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (87)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acid Phosphatase Deficiency	Associate	39276275
Ageusia	Associate	29978519
Anosmia	Associate	29978519, 32420800
Anxiety	Associate	38064009
Asthma	Associate	36395102
Autism Spectrum Disorder	Associate	27956748, 34947986
Autistic Disorder	Associate	27956748
Bipolar Disorder	Associate	34947986
Bradycardia	Associate	35840956
Brain Diseases	Associate	31372899
Breast Neoplasms	Associate	32295642, 37052249
Burning Mouth Syndrome	Associate	20529324
Carcinoma Non Small Cell Lung	Associate	31329011
Channelopathies	Associate	17167479, 20692858, 34799533
Chronic Pain	Associate	17145494, 25285947, 27598514, 28658526, 30720580, 33361158
Cognition Disorders	Associate	34982449
Cognitive Dysfunction	Associate	28530638
Corneal dystrophy and perceptive deafness	Associate	28103821
Dental Pulp Diseases	Associate	20529324
Developmental Disabilities	Associate	28381558
Diabetic Neuropathies	Associate	29176367, 37175987
Drug Hypersensitivity	Associate	33487118
Ectodermal Dysplasia	Associate	22136189
Edema	Associate	28381558
Endometriosis	Associate	25029427
Epilepsies Myoclonic	Associate	23895530, 30558019, 30642272, 31372899, 34982449
Epilepsy	Associate	28074849, 32062735, 34982449, 40565516
Epileptic Encephalopathy Early Infantile 3	Associate	35886038
Epileptic Syndromes	Associate	31372899
Erythema	Associate	28381558
Erythromelalgia	Associate	14985375, 15955112, 17008310, 17145499, 17239250, 18171466, 18518989, 18550534, 19557861, 20212137, 20429905, 20529343, 21115638, 21289137, 22136189 View all (28 more)
Eye Pain	Associate	36722722
Facial Pain	Associate	22136189
Fibromyalgia	Associate	22348792
Flushing	Associate	25903274
Frasier Syndrome	Associate	33895391
Generalized Epilepsy With Febrile Seizures Plus Type 1	Associate	30642272, 31394368, 32062735, 34982449
Genetic Diseases Inborn	Associate	20529324, 25957174
Glioblastoma	Associate	33237934
Harlequin syndrome	Associate	32404070
Headache	Associate	25903274
Heart Diseases	Associate	34799533, 38064009
Heart Failure	Associate	29659026
Hereditary Sensory and Autonomic Neuropathies	Associate	34090020, 37248554
Hyperalgesia	Associate	22761785
Hypophosphatasia	Associate	39276275
Hypotension Orthostatic	Associate	33487118
Hypothermia	Associate	28751508
Infections	Associate	31694955
Intellectual Disability	Associate	33278787
KBG syndrome	Associate	30642272
Language Disorders	Associate	28440294
Malar hypoplasia	Associate	28381558
Mandibular Nerve Injuries	Associate	36222860
Migraine Disorders	Associate	18676988
Migraine with Aura	Associate	18676988
Multiple Pterygium Syndrome Autosomal Dominant	Associate	17008310, 32404070
Myalgia	Associate	33487118
Neoplasm Metastasis	Associate	37052249
Neoplasms	Associate	37052249
Neoplastic Syndromes Hereditary	Associate	17430993, 18518989
Nerve Degeneration	Associate	20529343, 32011655, 35088838
Nervous System Diseases	Associate	28103821, 37921732
Neuralgia	Associate	15955112, 25585270, 28658526, 29176367, 31041876, 31439884, 33087732, 34947986, 36114697, 37921732
Neuralgia Postherpetic	Associate	28266963
Neuroblastoma	Associate	31329011
Neuropathy Painful	Associate	28530638, 36730021
Olfaction Disorders	Associate	30037327, 32420800
Osteoarthritis	Associate	20212137
Pain	Associate	17145494, 17167479, 17239250, 20212137, 20429905, 20529324, 20529343, 22136189, 22348792, 23129781, 25585270, 25957174, 25995458, 26283785, 28235406 View all (26 more)
Pain Insensitivity Congenital	Associate	20529343, 20628234, 20692858, 23006801, 23129781, 23292638, 25285947, 25995458, 26283785, 28530638, 29978519, 30037327, 30795902, 32420800, 34090020 View all (4 more)
Paine syndrome	Associate	17145494, 17430993, 18599537, 20429905, 20529343, 21289137, 22136189, 23536180, 25575597, 27174182, 28235406, 32663327, 36996107, 37531097, 37903281
Parkinson Disease	Associate	31823283
Paroxysmal Extreme Pain Disorder	Associate	17145494, 17145499, 18518989, 18599537, 20212137, 20429905, 20529343, 21115638, 21788423, 22136189, 22348792, 23129781, 23292638, 24311784, 25285947 View all (10 more)
Peripheral Nervous System Diseases	Associate	25585270, 28103821, 29176367, 30392441, 32295642
Primary Dysautonomias	Associate	38064009
Prostatic Neoplasms	Associate	18036246
Pulpitis	Associate	20529324
Rhabdomyosarcoma	Associate	35413129
Schizophrenia	Associate	34947986
Seizures	Associate	31372899, 33895391, 34947986
Seizures Febrile	Associate	23129781, 31372899, 31394368, 33216760, 37531097
Sinus Arrest Cardiac	Associate	35840956
Small Fiber Neuropathy	Associate	22136189, 23129781, 25585270, 27363506, 28235406, 30554136, 32011655, 36114697, 37175987, 37921732
Somatoform Disorders	Associate	20212137, 20429905, 20529343, 21115638, 23006801, 24866741, 28235406, 28381558, 28530638, 30392441, 35088838, 36114697, 36722722
Status Epilepticus	Associate	33278787
Syndrome	Associate	30642272, 33087732

SCN9A (sodium voltage-gated channel alpha subunit 9)