Gene Report

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Basic Info

Approved Symbol	SCN7A
Previous Symbol	SCN6A
Symbol Alias	Nav2.1, Nav2.2, NaG
Approved Name	sodium channel, voltage gated, type VII alpha subunit
Previous Name	sodium channel, voltage-gated, type VI, alpha, "sodium channel, voltage-gated, type VII, alpha", "sodium channel, voltage-gated, type VII, alpha subunit"
Location	2q21-q23
Position	chr2:166403573-166494247, -1
External Links	HGNC: 10594 Entrez Gene: 6332 Ensembl: ENSG00000136546 UCSC: uc002udu.2
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Xu, W., 2014	SNP: rs1172384, rs12475889, rs6738031, rs7565062, rs7597971	A number of genes with no previous association to BD have multiple SNPs with suggestive association, including the brain-expressed gene SCN7A.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	IBA	360
GO:0005248	voltage-gated sodium channel activity	molecular function	IBA	2

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0097386	glial cell projection	cellular component	IEA	1
GO:0035725	sodium ion transmembrane transport	biological process	IBA	8
GO:0055078	sodium ion homeostasis	biological process	IEA	2
GO:0001518	voltage-gated sodium channel complex	cellular component	IEA	2
GO:0019228	neuronal action potential	biological process	IBA	11
GO:0006814	sodium ion transport	biological process	TAS[1317577]	6
GO:0086010	membrane depolarization during action potential	biological process	IBA	9
GO:0034765	regulation of ion transmembrane transport	biological process	IEA	16
GO:0006936	muscle contraction	biological process	IEA	10

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 15)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1172384	chr2:166486131 - 166486131(1)	intron_variant; NMD_transcript_variant	1(0/1/0)
rs12475889	chr2:166466637 - 166466637(1)	intron_variant; NMD_transcript_variant; upstream_gene_variant	1(0/1/0)
rs7565062	chr2:166477575 - 166477575(1)	missense_variant; NMD_transcript_variant	1(0/1/0)
rs7597971	chr2:166431662 - 166431662(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant	1(0/1/0)
rs6738031	chr2:166423412 - 166423412(1)	3_prime_UTR_variant; missense_variant; NMD_transcript_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs2893022	chr2:166480857 - 166480857(1)	intron_variant; NMD_transcript_variant
rs6738638	chr2:166453999 - 166453999(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs6741870	chr2:166447224 - 166447224(1)	intron_variant; NMD_transcript_variant
rs2293567	chr2:166472240 - 166472240(1)	intron_variant; NMD_transcript_variant
rs13014266	chr2:166457394 - 166457394(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs5024296	chr2:166425242 - 166425242(1)	intron_variant; NMD_transcript_variant
rs7563854	chr2:166429808 - 166429808(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs4550683	chr2:166428194 - 166428194(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant
rs6735176	chr2:166494815 - 166494815(1)	upstream_gene_variant
rs1172383	chr2:166486830 - 166486830(1)	intron_variant; NMD_transcript_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2q24.3	chr2:162900000-168900000	1 (0/0/1)
2q24	chr2:154000000-168900000	4 (0/3/1)
2q21-q33	chr2:129100000-208200000	1 (0/0/1)
Chr 2	chr2:0-242193529	3 (0/3/0)
2q24-33	chr2:154000000-208200000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr2:166403573..166494247 View in gBrowse