AutismKB 2.0

Annotation Detail for SCN2A


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Basic Information Top
Gene Symbol:SCN2A ( BFIC3,HBA,HBSCI,HBSCII,NAC2,Na(v)1.2,Nav1.2,SCN2A1,SCN2A2 )
Gene Full Name: sodium channel, voltage-gated, type II, alpha subunit
Band: 2q24.3
Quick LinksEntrez ID:6326; OMIM: 182390; Uniprot ID:SCN2A_HUMAN; ENSEMBL ID: ENSG00000136531; HGNC ID: 10588
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
212N-linked (GlcNAc...) (Potential).
285N-linked (GlcNAc...) (Potential).
291N-linked (GlcNAc...) (Potential).
297N-linked (GlcNAc...) (Potential).
303N-linked (GlcNAc...) (Potential).
308N-linked (GlcNAc...) (Potential).
340N-linked (GlcNAc...) (Potential).
604N-linked (GlcNAc...) (Potential).
624N-linked (GlcNAc...) (Potential).
883N-linked (GlcNAc...) (Potential).
1055N-linked (GlcNAc...) (Potential).
1072N-linked (GlcNAc...) (Potential).
1136N-linked (GlcNAc...) (Potential).
1368N-linked (GlcNAc...) (Potential).
1382N-linked (GlcNAc...) (Potential).
1393N-linked (GlcNAc...) (Potential).
1778N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
212N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
285N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
291N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
297N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
303N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
308N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
340N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
604N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
624N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
883N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1055N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1072N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1136N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1368N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1382N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1393N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1778N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
85SulfotyrosineHMM predict
291N-linkedHMM predict
297N-linkedHMM predict
298N-linkedHMM predict
303N-linkedHMM predict
308N-linkedHMM predict
340N-linkedHMM predict
362SulfotyrosineHMM predict
488Phosphoserine(ATM)HMM predict
488Phosphoserine(IKK)HMM predict
491O-linkedHMM predict
495Phosphoserine(CK1)HMM predict
514Phosphoserine(CK2)HMM predict
514Phosphoserine(CK1)HMM predict
514Phosphoserine(CK2)HMM predict
526Phosphoserine(PKG)HMM predict
528Phosphoserine(CK2)HMM predict
547Phosphothreonine(PKC)HMM predict
553Phosphoserine(CK1)HMM predict
554Phosphoserine(IKK)HMM predict
554Phosphoserine(CDK)HMM predict
554Phosphoserine(PKB)HMM predict
568Phosphoserine(CDC2)HMM predict
573Phosphoserine(PKA)HMM predict
573Phosphoserine(PKA)HMM predict
573Phosphoserine(PKG)HMM predict
599Phosphoserine(CK2)HMM predict
604N-linkedHMM predict
610Phosphoserine(PKG)HMM predict
610Phosphoserine(PKA)HMM predict
623Phosphoserine(PKG)HMM predict
623Phosphoserine(PKA)HMM predict
623Phosphoserine(IKK)HMM predict
623Phosphoserine(CK1)HMM predict
624N-linkedHMM predict
665O-linkedHMM predict
686Phosphoserine(PKA)HMM predict
686Phosphoserine(CK1)HMM predict
687Phosphoserine(PKB)HMM predict
728S-palmitoylHMM predict
784Phosphothreonine(PKC)HMM predict
789Phosphoserine(IKK)HMM predict
818SulfotyrosineHMM predict
987Phosphoserine(CK1)HMM predict
1055N-linkedHMM predict
1072N-linkedHMM predict
1092Phosphotyrosine(INSR)HMM predict
1092Phosphotyrosine(Syk)HMM predict
1092Phosphotyrosine(EGFR)HMM predict
1098N-linkedHMM predict
1123Phosphoserine(CK1)HMM predict
1126Phosphoserine(CK2)HMM predict
1136N-linkedHMM predict
1139Phosphoserine(CK1)HMM predict
1144O-linkedHMM predict
1231Phosphotyrosine(EGFR)HMM predict
1307Phosphothreonine(PKC)HMM predict
1368N-linkedHMM predict
1382N-linkedHMM predict
1393N-linkedHMM predict
1395Phosphothreonine(PKC)HMM predict
1448Phosphotyrosine(INSR)HMM predict
1448SulfotyrosineHMM predict
1497Phosphotyrosine(Syk)HMM predict
1498Phosphotyrosine(Syk)HMM predict
1556Phosphoserine(ATM)HMM predict
1743O-linkedHMM predict
1887N-linkedHMM predict
1943Phosphothreonine(CDC2)HMM predict
1957N-linkedHMM predict
1959Phosphothreonine(CDC2)HMM predict
1963O-linkedHMM predict
1966Phosphothreonine(CDK)HMM predict
1966Phosphothreonine(MAPK)HMM predict
1968O-linkedHMM predict
1969O-linkedHMM predict
1971Phosphoserine(MAPK)HMM predict
1971Phosphoserine(IKK)HMM predict
1974O-linkedHMM predict
1975Phosphotyrosine(SRC)HMM predict
1991Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001040142
  • Location:chr2 165804157-165957063
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 165790715 165790775 60 13413
ER E2-MCF7GSE14664 165802204 165802241 37 1935
ER Fulvestrant-MCF7GSE14664 165789310 165789376 66 14815
ER Fulvestrant-MCF7GSE14664 165790708 165790776 68 13416
NRSF JurkatGSE13047 165802705 165803610 905 1000
NRSF mAbJurkat 165799051 165799949 898 4658
NRSF-mono JurkatQuESTdata 165802837 165803705 868 887
NRSF-mono JurkatQuESTdata 165803957 165804261 304 49
NRSF-poly JurkatQuESTdata 165803036 165803616 580 832
Oct1 H2O2-HelaGSE14283 165790713 165790773 60 13415
Oct1 HelaGSE14283 165790709 165790771 62 13418
Oct1 HelaGSE14283 165791169 165791198 29 12974
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 165846586 165846623 37 0
ER Fulvestrant-MCF7GSE14664 165845622 165845657 35 0
ER Fulvestrant-MCF7GSE14664 165846588 165846624 36 0
ER Fulvestrant-MCF7GSE14664 165848040 165848082 42 0
NRSF mAbJurkat 165800429 165807946 7517 0
Oct1 H2O2-HelaGSE14283 165836158 165836185 27 0
Oct1 H2O2-HelaGSE14283 165846546 165846572 26 0
Oct1 HelaGSE14283 165809214 165809271 57 0
Oct1 HelaGSE14283 165818918 165818948 30 0
Oct1 HelaGSE14283 165836157 165836185 28 0
Oct1 HelaGSE14283 165848047 165848084 37 0
Validated miRNA targets Top
Cis-Nats regulation Top

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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