AutismKB 2.0

Annotation Detail for SMAD3


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Basic Information Top
Gene Symbol:SMAD3 ( DKFZp586N0721,DKFZp686J10186,HSPC193,HsT17436,JV15-2,MADH3,MGC60396 )
Gene Full Name: SMAD family member 3
Band: 15q22.33
Quick LinksEntrez ID:4088; OMIM: 603109; Uniprot ID:SMAD3_HUMAN; ENSEMBL ID: ENSG00000166949; HGNC ID: 6769
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
8Phosphothreonine; by CDK2 and CDK4.
179Phosphothreonine; by CDK2, CDK4 and MAPK.
204Phosphoserine; by GSK3 and MAPK.
208Phosphoserine; by MAPK.
213Phosphoserine; by CDK2 and CDK4.
378N6-acetyllysine.
416Phosphoserine.
423Phosphoserine (By similarity).
425Phosphoserine (By similarity).
Location(AA) Modifications Resource
8Phosphothreonine (CDK2;CDK4)Phospho.ELM 6.0
179Phosphothreonine (CDK2;CDK4)Phospho.ELM 6.0
204Phosphoserine (MAPK1)Phospho.ELM 6.0
208Phosphoserine (MAPK1)Phospho.ELM 6.0
213Phosphoserine (CDK2;CDK4)Phospho.ELM 6.0
422Phosphoserine (MAP3K7)Phospho.ELM 6.0
423Phosphoserine (MAP3K7)Phospho.ELM 6.0
423Phosphoserine (By similarity).Swiss-Prot 53.0
425Phosphoserine (MAP3K7)Phospho.ELM 6.0
425Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
132Phosphothreonine(CDK)HMM predict
156SulfotyrosineHMM predict
204Phosphoserine(IKK)HMM predict
208O-linkedHMM predict
208Phosphoserine(CDC2)HMM predict
208Phosphoserine(ATM)HMM predict
251Phosphoserine(ATM)HMM predict
286Phosphothreonine(PKC)HMM predict
309Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005902
  • Location:chr15 65145248-65274585
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 65144436 65145954 1518 54
H3ac HepG2E 65131777 65132068 291 13326
H3ac HepG2E 65135816 65136077 261 9302
H3ac HepG2E 65138348 65139448 1100 6351
H3ac HepG2E 65141584 65141877 293 3518
H3ac HepG2E 65142143 65143066 923 2644
H3ac HepG2E 65143516 65144541 1025 1220
TFAP2C MCF7GSE21234 65127734 65129542 1808 16611
USF2 HepG2E 65141584 65141877 293 3518
hScc1 BcellGSE12603 65138499 65138872 373 6563
hScc1 BcellGSE12603 65144357 65145886 1529 127
p130 shRbQuiescentGSE19898 65128036 65128815 779 16823
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 65275990 65276174 184 1497
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 65240164 65240742 578 0
CTCF G2GSE9613 65197496 65197708 212 0
CTCF G2GSE9613 65257152 65257328 176 0
CTCF G2GSE9613 65259255 65259507 252 0
CTCF G2GSE9613 65268913 65269192 279 0
ER MCF7GSE19013 65204569 65205456 887 0
FOXA1 MCF7GSE15244 65206073 65207665 1592 0
FOXA1 MCF7GSE15244 65225916 65229021 3105 0
FOXA1 MCF7GSE15244 65229463 65230165 702 0
FOXA1 eGFPGSE10845 65206073 65207665 1592 0
FOXA1 eGFPGSE10845 65225916 65229021 3105 0
FOXA1 eGFPGSE10845 65229463 65230165 702 0
Fos K562GSE19551 65155429 65156175 746 0
FoxA1 MCF7MACSdata 65161658 65161799 141 0
FoxA1 MCF7MACSdata 65206539 65206771 232 0
H3ac HepG2E 65146316 65148049 1733 0
H3ac HepG2E 65148291 65149080 789 0
NFkBII GM10847GSE19485 65199938 65201425 1487 0
NFkBII GM12878GSE19485 65199832 65201563 1731 0
NFkBII GM12892GSE19485 65199893 65201426 1533 0
NFkBII GM18526GSE19485 65199926 65201365 1439 0
Nanog hESGSE18292 65245237 65245556 319 0
Oct1 H2O2-HelaGSE14283 65173777 65173808 31 0
Oct1 H2O2-HelaGSE14283 65201316 65201356 40 0
Oct1 HelaGSE14283 65173779 65173807 28 0
Oct1 HelaGSE14283 65201317 65201356 39 0
P300 T30-glioblastomaGSE21026 65256949 65258991 2042 0
RARA MCF7GSE15244 65203685 65207665 3980 0
RARA MCF7GSE15244 65226592 65230165 3573 0
Rb SenescentGSE19898 65184636 65184900 264 0
Rb shRbQuiescentGSE19898 65218058 65218233 175 0
STAT1 HeLaGSE12783 65217711 65219374 1663 0
Sox2 hESGSE18292 65245227 65245502 275 0
TFAP2C MCF7GSE21234 65161437 65162108 671 0
TFAP2C MCF7GSE21234 65170599 65170977 378 0
TFAP2C MCF7GSE21234 65203266 65203950 684 0
TFAP2C MCF7GSE21234 65204726 65205641 915 0
TFAP2C MCF7GSE21234 65229311 65230205 894 0
USF1 HepG2E 65225492 65226824 1332 0
USF2 HepG2E 65225492 65226852 1360 0
hScc1 BcellGSE12603 65146503 65147139 636 0
hScc1 BcellGSE12603 65149393 65149752 359 0
hScc1 BcellGSE12603 65160323 65160840 517 0
hScc1 BcellGSE12603 65165395 65165767 372 0
hScc1 BcellGSE12603 65180455 65180942 487 0
hScc1 BcellGSE12603 65181675 65181897 222 0
hScc1 BcellGSE12603 65183157 65183714 557 0
hScc1 BcellGSE12603 65187626 65187979 353 0
hScc1 BcellGSE12603 65188837 65189214 377 0
hScc1 BcellGSE12603 65189764 65190135 371 0
hScc1 BcellGSE12603 65247626 65247877 251 0
hScc1 BcellGSE12603 65249789 65250101 312 0
hScc1 CdLSGSE12603 65159896 65160840 944 0
hScc1 CdLSGSE12603 65165315 65165839 524 0
p130 shRbQuiescentGSE19898 65184268 65185024 756 0
p130 shRbQuiescentGSE19898 65186268 65186793 525 0
p130 shRbQuiescentGSE19898 65273642 65274081 439 0
p130 shRbSenescentGSE19898 65247654 65248033 379 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7d hsa-let-7d 9 20395557
hsa-let-7d* hsa-let-7d 9 20395557
hsa-miR-107 hsa-mir-107 10 20348243
hsa-miR-135a hsa-mir-135a-1 3 21063788
hsa-miR-135a hsa-mir-135a-2 12 21063788
hsa-miR-140-3p hsa-mir-140 16 20071455
hsa-miR-140-5p hsa-mir-140 16 21063788
hsa-miR-140-5p hsa-mir-140 16 20071455
hsa-miR-192 hsa-mir-192 11 20488955
hsa-miR-192* hsa-mir-192 11 20488955
hsa-miR-195 hsa-mir-195 17 20845893
hsa-miR-195* hsa-mir-195 17 20845893
hsa-miR-21 hsa-mir-21 17 19816956
hsa-miR-21* hsa-mir-21 17 19816956
hsa-miR-23a hsa-mir-23a 19 18508316
hsa-miR-23a* hsa-mir-23a 19 18508316
hsa-miR-25 hsa-mir-25 7 19919989
hsa-miR-25* hsa-mir-25 7 19919989
hsa-miR-26a hsa-mir-26a-1 3 20845893
hsa-miR-26a hsa-mir-26a-2 12 20845893
hsa-miR-29a hsa-mir-29a 7 21330653
hsa-miR-29a hsa-mir-29a 7 19919989
hsa-miR-29a* hsa-mir-29a 7 21330653
hsa-miR-29a* hsa-mir-29a 7 19919989
hsa-miR-29b hsa-mir-29b-1 7 21330653
hsa-miR-29b hsa-mir-29b-2 1 21330653
hsa-miR-29b-1* hsa-mir-29b-1 7 21330653
hsa-miR-29b-2* hsa-mir-29b-2 1 21330653
hsa-miR-29c hsa-mir-29c 1 21330653
hsa-miR-29c* hsa-mir-29c 1 21330653
hsa-miR-30b hsa-mir-30b 8 20845893
hsa-miR-30b* hsa-mir-30b 8 20845893
hsa-miR-424 hsa-mir-424 X 20348243
hsa-miR-424* hsa-mir-424 X 20348243
hsa-miR-425 hsa-mir-425 3 18765229
hsa-miR-425* hsa-mir-425 3 18765229
hsa-miR-451 hsa-mir-451 17 18765229
hsa-miR-486-3p hsa-mir-486 8 18765229
hsa-miR-486-5p hsa-mir-486 8 18765229
hsa-miR-570 hsa-mir-570 3 20348243
hsa-miR-582-3p hsa-mir-582 5 21063788
hsa-miR-582-5p hsa-mir-582 5 21063788
hsa-miR-618 hsa-mir-618 12 20348243
hsa-miR-760 hsa-mir-760 1 20348243
hsa-miR-938 hsa-mir-938 10 21063788
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
98 mRNA cleavage TRUE HSV1-miR-LAT SMAD3 in vitro reporter gene assay (Luciferase) 16738545
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000166949 n_a n_a n_a "adipocyte, epithelium, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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
8979 mRNA SMAD3 chr15 65145248 65274586 641 EST chr15 65273084 65273725Sense/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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