AutismKB 2.0

Annotation Detail for GM2A


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Basic Information Top
Gene Symbol:GM2A ( SAP-3 )
Gene Full Name: GM2 ganglioside activator
Band: 5q33.1
Quick LinksEntrez ID:2760; OMIM: 613109; Uniprot ID:SAP3_HUMAN; ENSEMBL ID: ENSG00000196743; HGNC ID: 4367
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
63N-linked (GlcNAc...).
Location(AA) Modifications Resource
63N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
29Phosphoserine(PKC)HMM predict
63N-linkedHMM predict
67O-linkedHMM predict
73O-linkedHMM predict
78Phosphoserine(CDC2)HMM predict
136S-palmitoylHMM predict
145Phosphotyrosine(SRC)HMM predict
145Phosphotyrosine(INSR)HMM predict
146Phosphoserine(SRC)HMM predict
175Phosphoserine(CK1)HMM predict
176Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000405
  • Location:chr5 150612836-150629000
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 150598991 150599355 364 13664
CTCF CD4SISSRdata 150598991 150599355 364 13664
CTCF G2GSE9613 150599205 150599423 218 13523
CTCF G2GSE9613 150603996 150604185 189 8746
Myc hESGSE17917 150598215 150598488 273 14485
PHF8 293TGSE20725 150612076 150613488 1412 55
TFAP2C MCF7GSE21234 150601100 150601547 447 11513
hScc1 BcellGSE12603 150599205 150599560 355 13454
hScc1 BcellGSE12603 150604069 150604331 262 8637
hScc1 CdLSGSE12603 150599205 150599602 397 13433
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 150626903 150627054 151 0
H3K4me2 HCT116GSE10453 150613278 150613684 406 0
H3K4me3 colorectalcancer 150613314 150613684 370 0
H3ac HepG2E 150613175 150613684 509 0
KLF4 hESGSE17917 150623304 150623460 156 0
PHF8 HeLaGSE20725 150612778 150613430 652 0
Pol2 GM12878GSE19551 150612719 150613695 976 0
Rb GrowingGSE19898 150617914 150618071 157 0
p130 SenescentGSE19898 150612579 150613096 517 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