SCN5A (sodium channel, voltage-gated, type V, alpha subunit)

Identity

Other names	CDCD2
	CMD1E
	CMPD2
	HB1
	HB2
	HBBD
	HH1
	ICCD
	IVF
	LQT3
	Nav1.5
	PFHB1
	SSS1
HGNC	SCN5A
Location	3p21
Location_base_pair	Starts at 38564557 and ends at 38666167 bp from pter ( according to hg18-March_2006).
Note	Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

External links

	Nomenclature
HGNC	SCN5A   10593
Entrez_Gene	SCN5A  6331  sodium channel, voltage-gated, type V, alpha subunit
	Cards
GeneCards	SCN5A
Ensembl	ENSG00000183873 [Gene_View]  SCN5A [Vega]
Genatlas	SCN5A
	Genomic and cartography
GoldenPath	SCN5A  -  3p21   chr3:38564557-38666167 -  3p22.2   [Description]    (hg18-March_2006)
Ensembl	SCN5A - 3p22.2 [CytoView]
NCBI	Mapview
OMIM	113900 Disease map [OMIM]
OMIM	600163 Disease map [OMIM]
OMIM	601144 Disease map [OMIM]
OMIM	601154 Disease map [OMIM]
OMIM	603829 Disease map [OMIM]
OMIM	603830 Disease map [OMIM]
OMIM	608567 Disease map [OMIM]
HomoloGene	SCN5A
	Gene and transcription
Genbank	AB158469 [ ENTREZ ]
Genbank	AB158470 [ ENTREZ ]
Genbank	AB208866 [ ENTREZ ]
Genbank	AF482988 [ ENTREZ ]
Genbank	AJ310886 [ ENTREZ ]
RefSeq	NM_000335 [ SRS ]    NM_000335 [ ENTREZ ]
RefSeq	NM_001099404 [ SRS ]    NM_001099404 [ ENTREZ ]
RefSeq	NM_001099405 [ SRS ]    NM_001099405 [ ENTREZ ]
RefSeq	NM_198056 [ SRS ]    NM_198056 [ ENTREZ ]
RefSeq	AC_000046 [ SRS ]    AC_000046 [ ENTREZ ]
RefSeq	AC_000135 [ SRS ]    AC_000135 [ ENTREZ ]
RefSeq	NC_000003 [ SRS ]    NC_000003 [ ENTREZ ]
RefSeq	NT_022517 [ SRS ]    NT_022517 [ ENTREZ ]
RefSeq	NW_001838877 [ SRS ]    NW_001838877 [ ENTREZ ]
RefSeq	NW_921651 [ SRS ]    NW_921651 [ ENTREZ ]
CCDS	SCN5A CCDS - NCBI
AceView	SCN5A AceView - NCBI
Unigene	Hs.517898 [ SRS ]    Hs.517898 [ NCBI ]
Fast-db	4311 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q14524 [ SRS]    Q14524 [ EXPASY ]     Q14524 [ INTERPRO ]     Q14524 [ UNIPROT ] Q14524 [ VarSplice FASTA ]
Prosite	PS50096 IQ [ SRS ]    PS50096 IQ [ Expasy ]
Interpro	IPR005821 Ion_trans [ SRS ]    IPR005821 Ion_trans [ EBI ]
Interpro	IPR000048 IQ_CaM_bd_region [ SRS ]    IPR000048 IQ_CaM_bd_region [ EBI ]
Interpro	IPR001696 Na_channel [ SRS ]    IPR001696 Na_channel [ EBI ]
Interpro	IPR008053 Na_channel5 [ SRS ]    IPR008053 Na_channel5 [ EBI ]
Interpro	IPR010526 Na_trans_assoc [ SRS ]    IPR010526 Na_trans_assoc [ EBI ]
CluSTr	Q14524
Pfam	PF00520 Ion_trans [ SRS ]    PF00520 Ion_trans [ Sanger ]    pfam00520 [ NCBI-CDD ]
Pfam	PF00612 IQ [ SRS ]    PF00612 IQ [ Sanger ]    pfam00612 [ NCBI-CDD ]
Pfam	PF06512 Na_trans_assoc [ SRS ]    PF06512 Na_trans_assoc [ Sanger ]    pfam06512 [ NCBI-CDD ]
Smart	SM00015 IQ [EMBL]
Blocks	Q14524
HPRD	02543
	Protein Interaction databases
DIP	Q14524
IntAct	Q14524
	Polymorphism : SNP, mutations, diseases
OMIM	113900    [ map ]
OMIM	600163    [ map ]
OMIM	601144    [ map ]
OMIM	601154    [ map ]
OMIM	603829    [ map ]
OMIM	603830    [ map ]
OMIM	608567    [ map ]
GENETests	113900
GENETests	600163
GENETests	601144
GENETests	601154
GENETests	603829
GENETests	603830
GENETests	608567
SNP	SCN5A [dbSNP-NCBI]
SNP	NM_000335 [SNP-NCI]
SNP	NM_001099404 [SNP-NCI]
SNP	NM_001099405 [SNP-NCI]
SNP	NM_198056 [SNP-NCI]
SNP	SCN5A [GeneSNPs - Utah]  SCN5A] [HGBASE - SRS]
HAPMAP	SCN5A [HAPMAP]
HGMD	SCN5A
Genetic Association	SCN5A
CDC HuGE	SCN5A
	General knowledge
Family Browser	SCN5A [UCSC Family Browser]
SOURCE	NM_000335
SOURCE	NM_001099404
SOURCE	NM_001099405
SOURCE	NM_198056
SMD	Hs.517898
SAGE	Hs.517898
GO	voltage-gated sodium channel complex [Amigo]  voltage-gated sodium channel complex
GO	ion channel activity [Amigo]  ion channel activity
GO	voltage-gated ion channel activity [Amigo]  voltage-gated ion channel activity
GO	voltage-gated sodium channel activity [Amigo]  voltage-gated sodium channel activity
GO	voltage-gated sodium channel activity [Amigo]  voltage-gated sodium channel activity
GO	ion transport [Amigo]  ion transport
GO	sodium ion transport [Amigo]  sodium ion transport
GO	sodium ion transport [Amigo]  sodium ion transport
GO	muscle contraction [Amigo]  muscle contraction
GO	blood circulation [Amigo]  blood circulation
GO	regulation of heart contraction [Amigo]  regulation of heart contraction
GO	membrane [Amigo]  membrane
GO	integral to membrane [Amigo]  integral to membrane
GO	sodium ion binding [Amigo]  sodium ion binding
PubGene	SCN5A
TreeFam	SCN5A
CTD	6331 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	SCN5A Related clones (RZPD - Berlin)
	PubMed
PubMed	168 Pubmed reference(s) in Entrez

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Dec 6 17:07:39 2008