AutismKB 2.0

Annotation Detail for SCN3A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SCN3A ( KIAA1356,NAC3,Nav1.3 )
Gene Full Name: sodium channel, voltage-gated, type III, alpha subunit
Band: 2q24.3
Quick LinksEntrez ID:6328; OMIM: 182391; Uniprot ID:SCN3A_HUMAN; ENSEMBL ID: ENSG00000153253; HGNC ID: 10590
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
211N-linked (GlcNAc...) (Potential).
290N-linked (GlcNAc...) (Potential).
296N-linked (GlcNAc...) (Potential).
302N-linked (GlcNAc...) (Potential).
307N-linked (GlcNAc...) (Potential).
339N-linked (GlcNAc...) (Potential).
624N-linked (GlcNAc...) (Potential).
884N-linked (GlcNAc...) (Potential).
1051N-linked (GlcNAc...) (Potential).
1068N-linked (GlcNAc...) (Potential).
1134N-linked (GlcNAc...) (Potential).
1366N-linked (GlcNAc...) (Potential).
1380N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
211N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
290N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
296N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
302N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
307N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
339N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
624N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
884N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1051N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1068N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1134N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1366N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1380N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
18Phosphothreonine(PKC)HMM predict
84SulfotyrosineHMM predict
290N-linkedHMM predict
291O-linkedHMM predict
296N-linkedHMM predict
298O-linkedHMM predict
302N-linkedHMM predict
307N-linkedHMM predict
339N-linkedHMM predict
361SulfotyrosineHMM predict
484Phosphoserine(CK1)HMM predict
485Phosphoserine(CK1)HMM predict
486Phosphoserine(CK2)HMM predict
489Phosphoserine(CK1)HMM predict
489Phosphoserine(IKK)HMM predict
528Phosphoserine(CK2)HMM predict
531Phosphoserine(CK1)HMM predict
547Phosphothreonine(PKC)HMM predict
568Phosphoserine(CDC2)HMM predict
573Phosphoserine(CK1)HMM predict
573Phosphoserine(PKG)HMM predict
573Phosphoserine(PKA)HMM predict
599Phosphoserine(CK2)HMM predict
610Phosphoserine(PKG)HMM predict
610Phosphoserine(PKA)HMM predict
623Phosphoserine(PKG)HMM predict
623Phosphoserine(PKA)HMM predict
623Phosphoserine(IKK)HMM predict
661O-linkedHMM predict
665Phosphoserine(CDK)HMM predict
665Phosphoserine(CDC2)HMM predict
665Phosphoserine(IKK)HMM predict
665Phosphoserine(MAPK)HMM predict
679Phosphothreonine(CDK)HMM predict
687Phosphoserine(CK1)HMM predict
687Phosphoserine(PKA)HMM predict
688Phosphoserine(PKB)HMM predict
729S-palmitoylHMM predict
785Phosphothreonine(PKC)HMM predict
819SulfotyrosineHMM predict
988Phosphoserine(CK1)HMM predict
1017Phosphotyrosine(Jak)HMM predict
1051N-linkedHMM predict
1052N-linkedHMM predict
1068N-linkedHMM predict
1090Phosphotyrosine(EGFR)HMM predict
1090Phosphotyrosine(INSR)HMM predict
1090Phosphotyrosine(Syk)HMM predict
1096N-linkedHMM predict
1121Phosphoserine(CK1)HMM predict
1122Phosphoserine(CK2)HMM predict
1124Phosphoserine(CK2)HMM predict
1129Phosphoserine(CK1)HMM predict
1134N-linkedHMM predict
1137Phosphoserine(CK1)HMM predict
1142O-linkedHMM predict
1173S-palmitoylHMM predict
1229Phosphotyrosine(EGFR)HMM predict
1305Phosphothreonine(PKC)HMM predict
1366N-linkedHMM predict
1371N-linkedHMM predict
1380N-linkedHMM predict
1443Phosphotyrosine(INSR)HMM predict
1443Phosphotyrosine(SRC)HMM predict
1492Phosphotyrosine(Syk)HMM predict
1493Phosphotyrosine(Syk)HMM predict
1553Phosphotyrosine(INSR)HMM predict
1735PhosphoserineHMM predict
1738O-linkedHMM predict
1882N-linkedHMM predict
1952N-linkedHMM predict
1954Phosphothreonine(MAPK)HMM predict
1954Phosphothreonine(CDC2)HMM predict
1954Phosphothreonine(CDK)HMM predict
1961O-linkedHMM predict
1962O-linkedHMM predict
1963O-linkedHMM predict
1963O-linkedHMM predict
1964O-linkedHMM predict
1965O-linkedHMM predict
1966Phosphoserine(IKK)HMM predict
1966Phosphoserine(MAPK)HMM predict
1969O-linkedHMM predict
1970Phosphotyrosine(SRC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006922
  • Location:chr2 165652285-165768798
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 165768834 165768959 125 98
CTCF CD4SISSRdata 165768834 165768959 125 98
CTCF G2GSE9613 165768767 165769073 306 122
ER E2-MCF7GSE14664 165770316 165770377 61 1548
ER E2-MCF7GSE14664 165770676 165770743 67 1911
ER E2-MCF7GSE14664 165778199 165778249 50 9426
ER Fulvestrant-MCF7GSE14664 165776974 165777024 50 8201
hScc1 BcellGSE12603 165768732 165769042 310 89
hScc1 CdLSGSE12603 165768549 165769326 777 139
hScc1 G2GSE9613 165768696 165769042 346 71
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 165633607 165634367 760 18299
Oct1 H2O2-HelaGSE14283 165650143 165650175 32 2127
Oct1 HelaGSE14283 165650135 165650173 38 2132
P300 T0-glioblastomaGSE21026 165633557 165634554 997 18230
P300 T30-glioblastomaGSE21026 165633674 165634652 978 18123
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 165713648 165715040 1392 0
ER E2-MCF7GSE14664 165659379 165659411 32 0
ER E2-MCF7GSE14664 165683768 165683812 44 0
ER E2-MCF7GSE14664 165713005 165713041 36 0
ER Fulvestrant-MCF7GSE14664 165683766 165683811 45 0
Oct1 H2O2-HelaGSE14283 165655952 165655992 40 0
Oct1 H2O2-HelaGSE14283 165665310 165665336 26 0
Oct1 H2O2-HelaGSE14283 165668797 165668832 35 0
Oct1 HelaGSE14283 165655950 165655991 41 0
Oct1 HelaGSE14283 165665305 165665342 37 0
Oct1 HelaGSE14283 165668800 165668831 31 0
Oct1 HelaGSE14283 165687007 165687038 31 0
Oct1 HelaGSE14283 165719229 165719257 28 0
Oct1 HelaGSE14283 165740977 165741022 45 0
Oct1 HelaGSE14283 165744894 165744932 38 0
RNAII Tamoxifen-MCF7GSE14664 165668774 165668825 51 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
15217 EST chr2 165674000 165773310 174 mRNA SCN3A chr2 165769546 165886060Sense/Antisense (SA) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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