AutismKB 2.0

Annotation Detail for SPTBN2


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Basic Information Top
Gene Symbol:SPTBN2 ( GTRAP41,SCA5 )
Gene Full Name: spectrin, beta, non-erythrocytic 2
Band: 11q13.2
Quick LinksEntrez ID:6712; OMIM: 604985; Uniprot ID:SPTN2_HUMAN; ENSEMBL ID: ENSG00000173898; HGNC ID: 11276
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2171Phosphoserine.
2199Phosphoserine (By similarity).
2354Phosphothreonine (By similarity).
2359Phosphoserine.
Location(AA) Modifications Resource
2171Phosphoserine.Swiss-Prot 53.0
2171PhosphoserinePhospho.ELM 6.0
2199Phosphoserine (By similarity).Swiss-Prot 53.0
2354Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
6Phosphoserine(ATM)HMM predict
20Phosphoserine(CK2)HMM predict
35N-linkedHMM predict
200N-linkedHMM predict
336Phosphoserine(CK1)HMM predict
352Phosphothreonine(PKC)HMM predict
449Phosphoserine(CAMK2)HMM predict
556Phosphoserine(ATM)HMM predict
716Phosphoserine(ATM)HMM predict
802Phosphothreonine(PKA)HMM predict
802Phosphothreonine(PKC)HMM predict
829Phosphothreonine(PKC)HMM predict
1053Phosphothreonine(PKC)HMM predict
1060Phosphoserine(PKG)HMM predict
1344Phosphothreonine(PKC)HMM predict
1411SulfotyrosineHMM predict
1530N-linkedHMM predict
1594Phosphotyrosine(Syk)HMM predict
1622Phosphoserine(CK2)HMM predict
1744Phosphoserine(CK1)HMM predict
1985Phosphoserine(CK1)HMM predict
1989Phosphoserine(ATM)HMM predict
2104O-linkedHMM predict
2106O-linkedHMM predict
2106Phosphoserine(ATM)HMM predict
2133O-linkedHMM predict
2133O-linkedHMM predict
2134O-linkedHMM predict
2149Phosphoserine(ATM)HMM predict
2184Phosphothreonine(PKC)HMM predict
2192O-linkedHMM predict
2197O-linkedHMM predict
2200O-linkedHMM predict
2240N-linkedHMM predict
2245N-linkedHMM predict
2329O-linkedHMM predict
2334O-linkedHMM predict
2334Phosphoserine(CK2)HMM predict
2354Phosphothreonine(PKC)HMM predict
2359Phosphoserine(CDK)HMM predict
2389AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006946
  • Location:chr11 66209298-66245445
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatSISSRdata 66252575 66252752 177 7218
NRSF pAbJurkat 66251573 66252033 460 6358
Oct1 H2O2-HelaGSE14283 66253641 66253677 36 8214
Oct1 HelaGSE14283 66253645 66253676 31 8215
PHF8 293TGSE20725 66251275 66252126 851 6255
RARA MCF7GSE15244 66245612 66246232 620 477
RARA MCF7GSE15244 66250313 66251474 1161 5448
hScc1 BcellGSE12603 66247918 66248157 239 2592
hScc1 BcellGSE12603 66251474 66252033 559 6308
hScc1 BcellGSE12603 66252559 66252859 300 7264
hScc1 CdLSGSE12603 66251672 66252033 361 6407
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 66218705 66219103 398 0
CTCF CD4SISSRdata 66218705 66219103 398 0
ER MCF7GSE19013 66233732 66234461 729 0
FOXA1 MCF7GSE15244 66239274 66239460 186 0
FOXA1 MCF7GSE15244 66241759 66242480 721 0
FOXA1 MCF7GSE15244 66243385 66243998 613 0
FOXA1 MCF7GSE15244 66244329 66246022 1693 0
FoxA1 MCF7MACSdata 66233865 66234121 256 0
H3ac HepG2E 66240795 66243385 2590 0
H3ac HepG2E 66244630 66246232 1602 0
NRSF pAbJurkat 66228778 66229699 921 0
NRSF pAbJurkat 66230995 66231173 178 0
Oct1 H2O2-HelaGSE14283 66209634 66209678 44 0
Oct1 HelaGSE14283 66209634 66209678 44 0
P300 T30-glioblastomaGSE21026 66218531 66219414 883 0
P300 T30-glioblastomaGSE21026 66244116 66244943 827 0
RARA MCF7GSE15244 66243495 66243998 503 0
RARA MCF7GSE15244 66244329 66245370 1041 0
RARG MCF7GSE15244 66238816 66238964 148 0
RARG MCF7GSE15244 66239274 66239460 186 0
RARG MCF7GSE15244 66244329 66246232 1903 0
Rb QuiescentGSE19898 66218828 66219040 212 0
TFAP2C MCF7GSE21234 66244169 66245741 1572 0
hScc1 BcellGSE12603 66212704 66213002 298 0
hScc1 BcellGSE12603 66215308 66215709 401 0
hScc1 BcellGSE12603 66218277 66218551 274 0
hScc1 BcellGSE12603 66228633 66229526 893 0
hScc1 BcellGSE12603 66229969 66230348 379 0
hScc1 BcellGSE12603 66241975 66242925 950 0
hScc1 G2GSE9613 66244329 66244742 413 0
p63 keratinocytesGSE17611 66210067 66211270 1203 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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