AutismKB 2.0

Annotation Detail for SH3TC2


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Basic Information Top
Gene Symbol:SH3TC2 ( CMT4C,FLJ13605,KIAA1985,MNMN )
Gene Full Name: SH3 domain and tetratricopeptide repeats 2
Band: 5q32
Quick LinksEntrez ID:79628; OMIM: 608206; Uniprot ID:S3TC2_HUMAN; ENSEMBL ID: ENSG00000169247; HGNC ID: 29427
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
104Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
12Phosphoserine(CK1)HMM predict
14Phosphothreonine(PKC)HMM predict
21Phosphothreonine(MAPK)HMM predict
21Phosphothreonine(CDK)HMM predict
23O-linkedHMM predict
57S-palmitoylHMM predict
101Phosphoserine(CAMK2)HMM predict
125Phosphotyrosine(INSR)HMM predict
188Phosphothreonine(MAPK)HMM predict
215Phosphoserine(CK1)HMM predict
279Phosphotyrosine(INSR)HMM predict
331Phosphotyrosine(Syk)HMM predict
331Phosphotyrosine(INSR)HMM predict
394Phosphoserine(ATM)HMM predict
419Phosphoserine(CK2)HMM predict
420Phosphoserine(IKK)HMM predict
420Phosphoserine(CK2)HMM predict
420Phosphoserine(PKG)HMM predict
425Phosphoserine(CK2)HMM predict
425Phosphoserine(CK1)HMM predict
426Phosphoserine(CK1)HMM predict
479Phosphotyrosine(Syk)HMM predict
500Phosphoserine(CK2)HMM predict
545Phosphoserine(PKG)HMM predict
629Phosphoserine(CDC2)HMM predict
669O-linkedHMM predict
717N-linkedHMM predict
755Phosphothreonine(PKC)HMM predict
795Phosphoserine(IKK)HMM predict
1055Phosphotyrosine(Jak)HMM predict
1096N-linkedHMM predict
1156Phosphoserine(PKG)HMM predict
1202Phosphoserine(CDC2)HMM predict
1220PhosphothreonineHMM predict
1271Phosphoserine(CK2)HMM predict
1282SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024577
  • Location:chr5 148341907-148422929
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 148422527 148423434 907 51
Oct1 HelaGSE14283 148433724 148433754 30 10810
TFAP2C MCF7GSE21234 148422644 148423363 719 74
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 148324917 148326443 1526 16228
NRSF pAbJurkat 148339209 148339565 356 2521
P300 T30-glioblastomaGSE21026 148325136 148326530 1394 16075
TFAP2C MCF7GSE21234 148338122 148338615 493 3539
TFAP2C MCF7GSE21234 148338667 148339191 524 2979
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 148360708 148363404 2696 0
CBP T30-glioblastomaGSE21026 148389860 148390759 899 0
CTCF CD4GSE12889 148358054 148358328 274 0
CTCF CD4GSE12889 148395136 148395346 210 0
CTCF CD4SISSRdata 148358054 148358328 274 0
CTCF CD4SISSRdata 148395136 148395346 210 0
CTCF G2GSE9613 148357939 148358733 794 0
CTCF G2GSE9613 148372168 148372574 406 0
CTCF G2GSE9613 148387387 148387840 453 0
CTCF G2GSE9613 148395080 148395656 576 0
CTCF G2GSE9613 148397553 148397883 330 0
Fos K562GSE19551 148404302 148404659 357 0
Myc K562GSE19551 148395146 148395425 279 0
Nanog hESGSE18292 148350908 148351276 368 0
Oct1 HelaGSE14283 148385850 148385927 77 0
Oct1 HelaGSE14283 148413445 148413474 29 0
Oct1 HelaGSE14283 148413654 148413728 74 0
Oct1 HelaGSE14283 148419282 148419316 34 0
P300 T30-glioblastomaGSE21026 148360687 148363523 2836 0
P300 T30-glioblastomaGSE21026 148389754 148391319 1565 0
Rb QuiescentGSE19898 148390118 148390420 302 0
Rb shRbSenescenceGSE19898 148361881 148362066 185 0
STAT1 HeLaGSE12782 148399853 148401049 1196 0
STAT1 HeLaGSE12783 148399887 148400962 1075 0
STAT1 IFNSISSRdata 148400093 148400742 649 0
Stat6 IL-4-hr4GSE17850 148409658 148410194 536 0
TAFII hESGSE17917 148395114 148395375 261 0
TFAP2C MCF7GSE21234 148364790 148365159 369 0
TFAP2C MCF7GSE21234 148370728 148371312 584 0
TFAP2C MCF7GSE21234 148390133 148390768 635 0
TFAP2C MCF7GSE21234 148422302 148422537 235 0
hScc1 BcellGSE12603 148357807 148358662 855 0
hScc1 BcellGSE12603 148394980 148395989 1009 0
hScc1 CdLSGSE12603 148357807 148358358 551 0
hScc1 CdLSGSE12603 148394980 148395692 712 0
hScc1 G2GSE9613 148357836 148358396 560 0
hScc1 G2GSE9613 148394980 148395989 1009 0
p130 QuiescentGSE19898 148361928 148362104 176 0
p63 keratinocytesGSE17611 148346074 148346885 811 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