AutismKB 2.0

Annotation Detail for RIMBP2


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Basic Information Top
Gene Symbol:RIMBP2 ( KIAA0318,MGC15831,RBP2,RIM-BP2 )
Gene Full Name: RIMS binding protein 2
Band: 12q24.33
Quick LinksEntrez ID:23504; OMIM: 611602; Uniprot ID:RIMB2_HUMAN; ENSEMBL ID: ENSG00000060709; HGNC ID: 30339
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
832Phosphoserine (By similarity).
Location(AA) Modifications Resource
832Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
86Phosphoserine(CDK)HMM predict
148Phosphoserine(IKK)HMM predict
159N-linkedHMM predict
212SulfotyrosineHMM predict
253N-linkedHMM predict
304Phosphothreonine(PKA)HMM predict
328Phosphothreonine(PKC)HMM predict
343N-linkedHMM predict
377PhosphoserineHMM predict
401N-linkedHMM predict
410Phosphoserine(IKK)HMM predict
500Phosphothreonine(MAPK)HMM predict
523N-linkedHMM predict
563Phosphothreonine(PKC)HMM predict
590O-linkedHMM predict
590Phosphothreonine(MAPK)HMM predict
590Phosphothreonine(CDC2)HMM predict
604O-linkedHMM predict
649Phosphoserine(CDC2)HMM predict
649Phosphoserine(PKG)HMM predict
651Phosphoserine(CDK)HMM predict
651Phosphoserine(CDC2)HMM predict
662Phosphothreonine(CDK)HMM predict
662O-linkedHMM predict
704Phosphoserine(CK2)HMM predict
704Phosphoserine(ATM)HMM predict
710Phosphotyrosine(EGFR)HMM predict
710Phosphotyrosine(INSR)HMM predict
710Phosphotyrosine(SRC)HMM predict
710Phosphotyrosine(Abl)HMM predict
710SulfotyrosineHMM predict
710Phosphotyrosine(Syk)HMM predict
721Phosphoserine(PKB)HMM predict
765Phosphotyrosine(SRC)HMM predict
765SulfotyrosineHMM predict
765Phosphotyrosine(INSR)HMM predict
765PhosphotyrosineHMM predict
765Phosphotyrosine(Syk)HMM predict
765Phosphotyrosine(Abl)HMM predict
779Phosphoserine(PKA)HMM predict
779Phosphoserine(PKG)HMM predict
779Phosphoserine(PKB)HMM predict
807MethylarginineHMM predict
815O-linkedHMM predict
819Phosphothreonine(PKC)HMM predict
836Phosphotyrosine(EGFR)HMM predict
836Phosphotyrosine(Syk)HMM predict
951Phosphoserine(PKG)HMM predict
951PhosphoserineHMM predict
951Phosphoserine(CAMK2)HMM predict
954Phosphothreonine(PKC)HMM predict
963SulfotyrosineHMM predict
968Phosphoserine(CK1)HMM predict
998SulfotyrosineHMM predict
1026Phosphoserine(ATM)HMM predict
1030Phosphoserine(CK1)HMM predict
1033Phosphoserine(IKK)HMM predict
1033Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_015347
  • Location:chr12 129446634-129568362
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 129575639 129576286 647 7600
GABP HelaGSE8489 129582298 129583732 1434 14653
NRSF JurkatGSE13047 129577290 129577717 427 9141
NRSF JurkatSISSRdata 129577290 129577666 376 9116
NRSF mAbJurkat 129574820 129578084 3264 8090
NRSF-mono JurkatQuESTdata 129577289 129577778 489 9171
NRSF pAbJurkat 129582192 129583732 1540 14600
NRSF-poly JurkatQuESTdata 129577342 129577721 379 9169
RARA MCF7GSE15244 129582483 129583732 1249 14745
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 129437013 129437859 846 9199
CTCF G2GSE9613 129441309 129441540 231 5210
ETS1 JurkatGSE17954 129436515 129438554 2039 9100
HIF1 NormHepG2 129442414 129443912 1498 3472
NRSF pAbJurkat 129436982 129438107 1125 9090
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 129451949 129452791 842 0
CTCF G2GSE9613 129464895 129465284 389 0
CTCF G2GSE9613 129474685 129475028 343 0
CTCF G2GSE9613 129475554 129476534 980 0
CTCF G2GSE9613 129477086 129477543 457 0
CTCF G2GSE9613 129477936 129478196 260 0
CTCF G2GSE9613 129479631 129479828 197 0
CTCF G2GSE9613 129480295 129480695 400 0
CTCF G2GSE9613 129486394 129486645 251 0
CTCF G2GSE9613 129487997 129488143 146 0
CTCF G2GSE9613 129488809 129489136 327 0
CTCF G2GSE9613 129492841 129493143 302 0
CTCF G2GSE9613 129497087 129497751 664 0
CTCF G2GSE9613 129498792 129499273 481 0
CTCF G2GSE9613 129499848 129500039 191 0
CTCF G2GSE9613 129501323 129501640 317 0
CTCF G2GSE9613 129503701 129503915 214 0
CTCF G2GSE9613 129505715 129506071 356 0
CTCF G2GSE9613 129506490 129506797 307 0
CTCF G2GSE9613 129510232 129510861 629 0
CTCF G2GSE9613 129511213 129511384 171 0
CTCF G2GSE9613 129513637 129514037 400 0
CTCF G2GSE9613 129515668 129516007 339 0
CTCF G2GSE9613 129519517 129519760 243 0
CTCF G2GSE9613 129526305 129526550 245 0
CTCF G2GSE9613 129528281 129528835 554 0
CTCF G2GSE9613 129529434 129529638 204 0
CTCF G2GSE9613 129530149 129530586 437 0
CTCF G2GSE9613 129532741 129533209 468 0
CTCF G2GSE9613 129534138 129534655 517 0
CTCF G2GSE9613 129537525 129537688 163 0
CTCF G2GSE9613 129541410 129542140 730 0
CTCF G2GSE9613 129546956 129547314 358 0
CTCF G2GSE9613 129550989 129551846 857 0
CTCF G2GSE9613 129559039 129559548 509 0
CTCF G2GSE9613 129562476 129562763 287 0
Fos K562GSE19551 129557220 129557681 461 0
KLF4 hESGSE17917 129508554 129508713 159 0
KLF4 hESGSE17917 129556038 129556469 431 0
NFkBII GM12878GSE19485 129531476 129532822 1346 0
NRSF JurkatGSE13047 129512314 129512702 388 0
NRSF-mono JurkatQuESTdata 129512319 129512714 395 0
NRSF pAbJurkat 129465098 129465315 217 0
NRSF pAbJurkat 129493143 129493355 212 0
NRSF pAbJurkat 129497370 129497851 481 0
NRSF pAbJurkat 129498825 129499273 448 0
NRSF pAbJurkat 129506378 129507578 1200 0
NRSF pAbJurkat 129515640 129516007 367 0
NRSF pAbJurkat 129534085 129534397 312 0
NRSF-poly JurkatQuESTdata 129512374 129512766 392 0
TFAP2C MCF7GSE21234 129512300 129512800 500 0
hScc1 BcellGSE12603 129503701 129503915 214 0
hScc1 BcellGSE12603 129511213 129511466 253 0
hScc1 BcellGSE12603 129515789 129516570 781 0
hScc1 BcellGSE12603 129521952 129522362 410 0
hScc1 BcellGSE12603 129534172 129534474 302 0
hScc1 BcellGSE12603 129545700 129545936 236 0
hScc1 BcellGSE12603 129559288 129559548 260 0
hScc1 G2GSE9613 129451949 129452455 506 0
hScc1 G2GSE9613 129541866 129542067 201 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
6844 mRNA chr12 129434428 129440086 159 mRNA KIAA0318 chr12 129405561 129527290Sense/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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