AutismKB 2.0

Annotation Detail for ITPR2


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Basic Information Top
Gene Symbol:ITPR2 ( IP3R2 )
Gene Full Name: inositol 1,4,5-triphosphate receptor, type 2
Band: 12p11.23
Quick LinksEntrez ID:3709; OMIM: 600144; Uniprot ID:ITPR2_HUMAN; ENSEMBL ID: ENSG00000123104; HGNC ID: 6181
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
608N6-acetyllysine.
937Phosphoserine; by PKA (By similarity).
1160Phosphoserine.
1709Phosphoserine (By similarity).
2607Phosphotyrosine (Potential).
Location(AA) Modifications Resource
2607Phosphotyrosine (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
82N-linkedHMM predict
133Phosphothreonine(PKC)HMM predict
271O-linkedHMM predict
273O-linkedHMM predict
274O-linkedHMM predict
274Phosphoserine(CK1)HMM predict
322SulfotyrosineHMM predict
339Phosphothreonine(PKC)HMM predict
407Phosphothreonine(CK2)HMM predict
461N-linkedHMM predict
467N-linkedHMM predict
546Phosphotyrosine(Syk)HMM predict
573Phosphotyrosine(EGFR)HMM predict
641N-linkedHMM predict
685Phosphoserine(ATM)HMM predict
949O-linkedHMM predict
953O-linkedHMM predict
957Phosphoserine(IKK)HMM predict
1012Phosphoserine(CK2)HMM predict
1012O-linkedHMM predict
1014Phosphoserine(IKK)HMM predict
1136Phosphotyrosine(INSR)HMM predict
1144Phosphoserine(ATM)HMM predict
1463N-linkedHMM predict
1498N-linkedHMM predict
1501Phosphoserine(CK1)HMM predict
1521N-linkedHMM predict
1526N-linkedHMM predict
1532Phosphoserine(IKK)HMM predict
1658N-linkedHMM predict
1687Phosphoserine(PKA)HMM predict
1694Phosphothreonine(PKC)HMM predict
1731Phosphoserine(ATM)HMM predict
1874O-linkedHMM predict
1874Phosphothreonine(PKC)HMM predict
1901Phosphothreonine(PKC)HMM predict
1910O-linkedHMM predict
1945N-linkedHMM predict
1948N-linkedHMM predict
1950N-linkedHMM predict
1991Phosphoserine(CK1)HMM predict
2003N-linkedHMM predict
2058PhosphoserineHMM predict
2130Phosphoserine(CK2)HMM predict
2144N-linkedHMM predict
2182N-linkedHMM predict
2204Phosphotyrosine(SRC)HMM predict
2260Phosphoserine(CDC2)HMM predict
2430N-linkedHMM predict
2432Phosphothreonine(CDC2)HMM predict
2435Phosphothreonine(PKA)HMM predict
2456N-linkedHMM predict
2471Phosphotyrosine(INSR)HMM predict
2471SulfotyrosineHMM predict
2471Phosphotyrosine(Syk)HMM predict
2508PhosphoserineHMM predict
2508Phosphoserine(PKG)HMM predict
2508Phosphoserine(PKC)HMM predict
2508Phosphoserine(PKA)HMM predict
2574N-linkedHMM predict
2607Phosphotyrosine(Syk)HMM predict
2607Phosphotyrosine(INSR)HMM predict
2633Phosphoserine(IKK)HMM predict
2658Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002223
  • Location:chr12 26379553-26877397
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 26889383 26889550 167 12069
CTCF CD4SISSRdata 26889383 26889550 167 12069
NRSF pAbJurkat 26877138 26877690 552 17
P300 T30-glioblastomaGSE21026 26890042 26890828 786 13038
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 26362758 26363262 504 16544
P300 T30-glioblastomaGSE21026 26362134 26363272 1138 16851
TFAP2C MCF7GSE21234 26362880 26363229 349 16499
USF1 HepG2E 26362546 26363073 527 16744
hScc1 BcellGSE12603 26361510 26361792 282 17903
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 26567801 26568443 642 0
CBP T30-glioblastomaGSE21026 26692494 26693653 1159 0
CTCF HelaGSE12889 26695836 26696144 308 0
CTCF G2GSE9613 26400320 26400574 254 0
CTCF G2GSE9613 26446742 26447184 442 0
CTCF G2GSE9613 26454252 26454438 186 0
CTCF G2GSE9613 26478589 26478872 283 0
CTCF G2GSE9613 26502377 26502554 177 0
CTCF G2GSE9613 26509549 26509754 205 0
CTCF G2GSE9613 26596220 26596362 142 0
CTCF G2GSE9613 26607781 26608030 249 0
CTCF G2GSE9613 26657917 26658553 636 0
CTCF G2GSE9613 26757125 26757308 183 0
CTCF G2GSE9613 26845025 26845232 207 0
CTCF G2GSE9613 26876144 26877969 1825 0
ER E2-MCF7GSE14664 26736708 26736796 88 0
ER E2-MCF7GSE14664 26775671 26775702 31 0
ER MCF7GSE19013 26473055 26474010 955 0
FOXA1 DLD1GSE12801 26446853 26447887 1034 0
FOXA1 DLD1GSE12801 26473152 26473737 585 0
FOXA1 DLD1GSE12801 26730745 26731648 903 0
FOXA1 DLD1GSE12801 26789112 26789794 682 0
FOXA1 DLD1GSE12801 26812964 26814150 1186 0
FOXA1 DLD1GSE12801 26827004 26827291 287 0
FOXA1 DLD1GSE12801 26834160 26834973 813 0
FOXA1 DLD1GSE12801 26859545 26859972 427 0
FOXA1 MCF7GSE15244 26391119 26391262 143 0
FOXA1 MCF7GSE15244 26446963 26447506 543 0
FOXA1 MCF7GSE15244 26460738 26461200 462 0
FOXA1 MCF7GSE15244 26473007 26473918 911 0
FOXA1 MCF7GSE15244 26812928 26814001 1073 0
Fos K562GSE19551 26735519 26736316 797 0
FoxA1 MCF7MACSdata 26473333 26473530 197 0
FoxA1 MCF7MACSdata 26813296 26813764 468 0
GATA3 MCF7GSE15244 26756437 26756797 360 0
H3ac HepG2E 26788131 26788504 373 0
H3ac HepG2E 26874918 26875696 778 0
H3ac HepG2E 26876299 26876689 390 0
KLF4 hESGSE17917 26746504 26746665 161 0
Myc K562GSE19551 26658390 26658720 330 0
Nanog ESGSE20650 26688072 26688609 537 0
Nanog hESGSE18292 26688137 26688363 226 0
Oct1 H2O2-HelaGSE14283 26399119 26399150 31 0
Oct1 H2O2-HelaGSE14283 26569994 26570021 27 0
Oct1 H2O2-HelaGSE14283 26642002 26642033 31 0
Oct1 H2O2-HelaGSE14283 26799147 26799182 35 0
Oct1 HelaGSE14283 26399121 26399149 28 0
Oct1 HelaGSE14283 26569989 26570024 35 0
Oct1 HelaGSE14283 26739736 26739762 26 0
Oct1 HelaGSE14283 26799151 26799182 31 0
Oct1 HelaGSE14283 26826806 26826833 27 0
Oct1 HelaGSE14283 26842387 26842425 38 0
Oct4 hESGSE17917 26687963 26688406 443 0
Oct4 hESGSE21916 26723108 26723883 775 0
P300 T30-glioblastomaGSE21026 26567733 26568598 865 0
P300 T30-glioblastomaGSE21026 26692010 26693729 1719 0
P300 T30-glioblastomaGSE21026 26735425 26736359 934 0
PHF8 HeLaGSE20725 26876214 26878137 1923 0
PHF8 Hs68plusFBSGSE20725 26876024 26877815 1791 0
RARA MCF7GSE15244 26674678 26675087 409 0
RARA MCF7GSE15244 26813295 26813777 482 0
RNAII Tamoxifen-MCF7GSE14664 26463875 26463966 91 0
RNAII Tamoxifen-MCF7GSE14664 26841593 26841700 107 0
Rb shRbSenescenceGSE19898 26665295 26665470 175 0
STAT1 HeLaGSE12782 26499917 26501228 1311 0
STAT1 HeLaGSE12782 26537501 26538606 1105 0
STAT1 HeLaGSE12783 26499917 26501100 1183 0
STAT1 HeLaGSE12783 26537570 26538455 885 0
STAT1 HeLaGSE12783 26830879 26832145 1266 0
STAT1 IFNSISSRdata 26500084 26500976 892 0
STAT1 IFNSISSRdata 26537653 26538432 779 0
STAT1 IFNSISSRdata 26831091 26832029 938 0
Sox2 hESGSE18292 26688127 26688432 305 0
Stat6 IL-4-hr4GSE17850 26686782 26687327 545 0
TAF HelaGSE8489 26446490 26447852 1362 0
TFAP2C MCF7GSE21234 26876152 26876638 486 0
TFAP2C MCF7GSE21234 26877051 26877720 669 0
USF1 HepG2E 26674678 26675277 599 0
USF2 HepG2E 26813083 26813642 559 0
hScc1 BcellGSE12603 26478589 26478872 283 0
hScc1 BcellGSE12603 26771842 26772552 710 0
hScc1 BcellGSE12603 26842205 26842540 335 0
hScc1 BcellGSE12603 26876144 26878077 1933 0
hScc1 CdLSGSE12603 26478589 26479081 492 0
hScc1 CdLSGSE12603 26794136 26794445 309 0
hScc1 CdLSGSE12603 26876180 26878006 1826 0
hScc1 G2GSE9613 26596220 26596362 142 0
hScc1 G2GSE9613 26876262 26877899 1637 0
p130 SenescentGSE19898 26735848 26736072 224 0
p130 SenescentGSE19898 26876189 26876580 391 0
p130 SenescentGSE19898 26876588 26876904 316 0
p130 shRbQuiescentGSE19898 26876126 26876758 632 0
p130 shRbSenescentGSE19898 26876186 26876656 470 0
p63 keratinocytesGSE17611 26418052 26419030 978 0
p63 keratinocytesGSE17611 26540297 26541032 735 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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