Gene Gene information from NCBI Gene database.
Entrez ID 6327
Gene name Sodium voltage-gated channel beta subunit 2
Gene symbol SCN2B
Synonyms (NCBI Gene)
ATFB14
Chromosome 11
Chromosome location 11q23.3
Summary The protein encoded by this gene is the beta 2 subunit of the type II voltage-gated sodium channel. The encoded protein is involved in cell-cell adhesion and cell migration. Defects in this gene can be a cause of Brugada Syndrome, atrial fibrillation, or
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs17121819 G>A Pathogenic, uncertain-significance Coding sequence variant, missense variant
rs72544145 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
491
miRTarBase ID miRNA Experiments Reference
MIRT699822 hsa-miR-186-3p HITS-CLIP 23313552
MIRT699821 hsa-miR-4722-3p HITS-CLIP 23313552
MIRT699820 hsa-miR-6727-3p HITS-CLIP 23313552
MIRT699819 hsa-miR-6747-3p HITS-CLIP 23313552
MIRT699818 hsa-miR-150-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0001518 Component Voltage-gated sodium channel complex IBA
GO:0001518 Component Voltage-gated sodium channel complex IDA 19808477, 35277491, 36823201
GO:0001518 Component Voltage-gated sodium channel complex TAS 9295116
GO:0005248 Function Voltage-gated sodium channel activity IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601327 10589 ENSG00000149575
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60939
Protein name Sodium channel regulatory subunit beta-2
Protein function Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes (PubMed:19808477, PubMed:23559163, PubMed:26894959, PubMed:30765605, PubMed:30765606, PubMed:35277491, PubMed:3682320
PDB 5FDY , 5FEB , 6J8E , 6J8G , 6J8H , 6J8I , 6J8J , 6VRR , 7W77 , 7W7F , 7W9K , 7W9L , 7W9M , 7W9P , 7W9T , 7XM9 , 7XMF , 7XMG , 7XVE , 7XVF , 8G1A , 8GZ1 , 8GZ2 , 8I5B , 8I5G , 8I5X , 8I5Y , 8S9B , 8S9C , 8THG , 8THH , 8XMN , 8XMO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 33 147 Immunoglobulin V-set domain Domain
Sequence
MHRDAWLPRPAFSLTGLSLFFSLVPPGRSMEVTVPATLNVLNGSDARLPCTFNSCYTVNH
KQFSLNWTYQECNNCSEEMFLQFRMKIINLKLERFQDRVEFSGNPSKYDVSVMLRNVQPE
DEGIYNCYIMNPPDRHRGHGKIHLQVL
MEEPPERDSTVAVIVGASVGGFLAVVILVLMVV
KCVRRKKEQKLSTDDLKTEEEGKTDGEGNPDDGAK
Sequence length 215
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Phase 0 - rapid depolarisation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
258
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atrial fibrillation, familial, 14 Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs1948399832, rs142643516, rs771234231, rs371409245, rs1326811641, rs1217452578, rs1336662030, rs752863331, rs751230713, rs981151593, rs376336851, rs369244943, rs765701955, rs552421963, rs750313446
View all (111 more)
RCV001323366
RCV001322683
RCV001368324
RCV001418368
RCV001404706
RCV001395921
RCV001457541
RCV001455208
RCV001479121
RCV001480979
RCV001495226
RCV001512543
RCV001978689
RCV001917792
RCV001936821
RCV001945378
RCV002019463
RCV001920085
RCV001877205
RCV001925853
RCV001946015
RCV001901416
RCV001880942
RCV002048261
RCV001985103
RCV002024898
RCV002102343
RCV002169827
RCV002075228
RCV002169071
RCV002105843
RCV002185845
RCV002116231
RCV002121191
RCV002145914
RCV002203296
RCV002147644
RCV002090993
RCV003099446
RCV003741298
RCV003096724
RCV003581837
RCV003741306
RCV003138201
RCV003096871
RCV003774202
RCV003774401
RCV003102109
RCV003071317
RCV003081285
RCV003079397
RCV003078255
RCV003072911
RCV001043282
RCV001220499
RCV001335157
RCV002637531
RCV002587677
RCV002589987
RCV002626334
RCV002889515
RCV002909248
RCV003049524
RCV003040939
RCV003065952
RCV000490510
RCV000232198
RCV000228357
RCV003136441
RCV003136442
RCV003741334
RCV003224730
RCV001807167
RCV001854995
RCV003582467
RCV003581520
RCV003582764
RCV003582963
RCV003741422
RCV003741602
RCV003741913
RCV003742055
RCV003741971
RCV003742143
RCV003742145
RCV003742443
RCV003742456
RCV003742415
RCV003742585
RCV003740852
RCV003876908
RCV003882713
RCV005100491
RCV000456620
RCV000465102
RCV001488346
RCV000472431
RCV001476326
RCV000464872
RCV000458076
RCV001206528
RCV000559334
RCV000544526
RCV000655070
RCV002065211
RCV002529478
RCV002531655
RCV002063879
RCV000867780
RCV002063933
RCV000866035
RCV001803880
RCV001860373
RCV000655069
RCV000688074
RCV000811103
RCV001869261
RCV000868224
RCV001417399
RCV001404574
RCV000054539
RCV000054540
RCV000824359
RCV001458307
RCV001041156
RCV001218141
RCV001204333
RCV001228870
RCV001248262
RCV001303174
Cardiovascular phenotype Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs1948399832, rs142643516, rs771234231, rs371409245, rs1217452578, rs752863331, rs981151593, rs376336851, rs369244943, rs765701955, rs552421963, rs772817742, rs758238682, rs1024654954, rs1192595114
View all (91 more)
RCV004035099
RCV002456443
RCV002438858
RCV004038156
RCV002341845
RCV005480744
RCV005271312
RCV002449307
RCV003298915
RCV002334942
RCV005722562
RCV002440951
RCV003167300
RCV004041118
RCV005266114
RCV004982877
RCV004046293
RCV004982932
RCV002391303
RCV002451902
RCV002337538
RCV002348883
RCV002321271
RCV002321370
RCV002333490
RCV002455318
RCV002355162
RCV002332243
RCV002324953
RCV002349841
RCV002359632
RCV002357875
RCV002357961
RCV002344182
RCV002347256
RCV002356130
RCV002342196
RCV002342293
RCV002351457
RCV002361830
RCV002351607
RCV002351927
RCV002351928
RCV002351964
RCV002359749
RCV002380512
RCV002380010
RCV002376634
RCV002398599
RCV002383672
RCV002437332
RCV002441686
RCV002354429
RCV002336406
RCV002326940
RCV005724803
RCV004656946
RCV004135627
RCV004124454
RCV002321873
RCV003165295
RCV003176502
RCV003176503
RCV003176504
RCV003165296
RCV003216331
RCV003216332
RCV005725007
RCV000249593
RCV003296606
RCV003296607
RCV003296608
RCV003377701
RCV003377702
RCV003377703
RCV005273737
RCV004985496
RCV004987136
RCV004454902
RCV004519056
RCV004519057
RCV004519058
RCV004519059
RCV004519060
RCV005732106
RCV002429508
RCV004022958
RCV002436428
RCV002356739
RCV002393126
RCV002356678
RCV002367650
RCV004659071
RCV002334001
RCV000620580
RCV002325148
RCV002334007
RCV002341573
RCV002456366
RCV002384339
RCV002384322
RCV000619382
RCV003163021
RCV002352410
RCV002434034
RCV002336797
RCV002332810
RCV004659248
RCV002426610
RCV004018968
RCV002354244
RCV002454167
RCV002365987
RCV002436786
RCV005271130
Ovarian serous cystadenocarcinoma Benign rs648389 RCV005904121
Primary dilated cardiomyopathy Uncertain significance rs868793059 RCV000498414
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Fibrillation Associate 20558140, 30821358, 34332113
Brugada Syndrome Associate 26173111
Cardiomyopathy Dilated Associate 24339868
Cognitive Dysfunction Associate 36406589
Encephalitis Viral Associate 37891420
Inflammation Associate 37891420