AutismKB 2.0

Annotation Detail for SMPD4


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Basic Information Top
Gene Symbol:SMPD4 ( FLJ20297,FLJ20756,KIAA1418,NET13,NSMASE-3,NSMASE3 )
Gene Full Name: sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)
Band: 2q21.1
Quick LinksEntrez ID:55627; OMIM: 610457; Uniprot ID:NSMA3_HUMAN; ENSEMBL ID: ENSG00000136699; HGNC ID: 32949
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
130Phosphoserine.
350Phosphoserine.
461N6-acetyllysine.
669Phosphothreonine.
753Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
80Phosphotyrosine(Abl)HMM predict
121Phosphoserine(PKG)HMM predict
201O-linkedHMM predict
207O-linkedHMM predict
209Phosphoserine(IKK)HMM predict
209Phosphoserine(CDK)HMM predict
209Phosphoserine(CDC2)HMM predict
213O-linkedHMM predict
213O-linkedHMM predict
214Phosphoserine(CDK)HMM predict
214Phosphoserine(CDC2)HMM predict
214O-linkedHMM predict
216O-linkedHMM predict
216Phosphoserine(CDK)HMM predict
216Phosphoserine(CDC2)HMM predict
279Phosphotyrosine(INSR)HMM predict
300O-linkedHMM predict
304Phosphoserine(IKK)HMM predict
321Phosphothreonine(MAPK)HMM predict
352O-linkedHMM predict
355Phosphoserine(IKK)HMM predict
359Phosphoserine(MAPK)HMM predict
421Phosphoserine(IKK)HMM predict
515O-linkedHMM predict
534Phosphoserine(CK1)HMM predict
578Phosphoserine(CDC2)HMM predict
596N-linkedHMM predict
602N-linkedHMM predict
641Phosphothreonine(PKA)HMM predict
753Phosphoserine(MAPK)HMM predict
753Phosphoserine(CDC2)HMM predict
779Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017751
  • Location:chr2 130625449-130656163
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 130624833 130625504 671 281
Oct1 HelaGSE14283 130623999 130624028 29 1436
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 130630249 130630378 129 0
CTCF G2GSE9613 130626169 130627255 1086 0
CTCF G2GSE9613 130628433 130629355 922 0
CTCF G2GSE9613 130629652 130630820 1168 0
CTCF G2GSE9613 130634729 130636507 1778 0
CTCF G2GSE9613 130637020 130637344 324 0
CTCF G2GSE9613 130637820 130638185 365 0
CTCF G2GSE9613 130646409 130647172 763 0
CTCF G2GSE9613 130647609 130647933 324 0
ETS1 JurkatGSE17954 130655064 130656553 1489 0
H3K4me2 HCT116GSE10453 130654624 130655207 583 0
H3K4me3 colorectalcancer 130654624 130655317 693 0
H3ac HepG2E 130654624 130655499 875 0
HIF1 HypoHepG2 130655147 130656201 1054 0
NFkBII GM10847GSE19485 130631735 130632697 962 0
NFkBII GM12892GSE19485 130631720 130632758 1038 0
Oct1 HelaGSE14283 130655175 130655205 30 0
Oct1 HelaGSE14283 130655670 130655699 29 0
P300 T0-glioblastomaGSE21026 130655226 130656508 1282 0
P300 T30-glioblastomaGSE21026 130654953 130656225 1272 0
PHF8 Hs68plusFBSGSE20725 130655106 130656735 1629 0
Rb GrowingGSE19898 130655568 130655788 220 0
Rb QuiescentGSE19898 130655456 130656130 674 0
Rb SenescentGSE19898 130655376 130655935 559 0
Rb SenescentGSE19898 130655966 130656279 313 0
Rb shRbQuiescentGSE19898 130655580 130655794 214 0
Rb shRbSenescenceGSE19898 130655525 130655803 278 0
Rb shRbSenescenceGSE19898 130656046 130656245 199 0
TAF k562GSE8489 130654624 130655279 655 0
TFAP2C MCF7GSE21234 130655514 130656056 542 0
hScc1 BcellGSE12603 130626343 130626997 654 0
hScc1 BcellGSE12603 130636135 130636544 409 0
hScc1 CdLSGSE12603 130655465 130656595 1130 0
p130 QuiescentGSE19898 130655511 130655896 385 0
p130 SenescentGSE19898 130655445 130655844 399 0
p130 shRbQuiescentGSE19898 130655265 130656013 748 0
p130 shRbSenescentGSE19898 130655376 130655935 559 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
15000 mRNA FLJ14346 chr2 130655932 130664529 447 mRNA FLJ20297 chr2 130625211 130656553Sense/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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