AutismKB 2.0

Annotation Detail for PITPNM2


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Basic Information Top
Gene Symbol:PITPNM2 ( KIAA1457,NIR3,RDGB2,RDGBA2 )
Gene Full Name: phosphatidylinositol transfer protein, membrane-associated 2
Band: 12q24.31
Quick LinksEntrez ID:57605; OMIM: 608920; Uniprot ID:PITM2_HUMAN; ENSEMBL ID: ENSG00000090975; HGNC ID: 21044
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1277Phosphoserine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
31N-linkedHMM predict
100Phosphothreonine(PKA)HMM predict
129Phosphoserine(CDK)HMM predict
129Phosphoserine(CDC2)HMM predict
153Phosphotyrosine(Syk)HMM predict
153Phosphotyrosine(Jak)HMM predict
153SulfotyrosineHMM predict
281O-linkedHMM predict
281Phosphoserine(IKK)HMM predict
288Phosphoserine(CK1)HMM predict
288O-linkedHMM predict
290Phosphoserine(ATM)HMM predict
290O-linkedHMM predict
313Phosphoserine(CK1)HMM predict
314Phosphoserine(CK1)HMM predict
319Phosphoserine(CDC2)HMM predict
324Phosphoserine(CK1)HMM predict
341Phosphoserine(CK1)HMM predict
341Phosphoserine(ATM)HMM predict
353Phosphoserine(CK2)HMM predict
353Phosphoserine(CK1)HMM predict
353Phosphoserine(CK2)HMM predict
383Phosphothreonine(CK2)HMM predict
412Phosphoserine(ATM)HMM predict
491N-linkedHMM predict
503Phosphoserine(CK1)HMM predict
505Phosphoserine(ATM)HMM predict
524Phosphotyrosine(SRC)HMM predict
579O-linkedHMM predict
579Phosphoserine(IKK)HMM predict
581Phosphoserine(IKK)HMM predict
581Phosphoserine(ATM)HMM predict
589Phosphoserine(IKK)HMM predict
589Phosphoserine(PKG)HMM predict
589Phosphoserine(PKA)HMM predict
589Phosphoserine(PKA)HMM predict
600Phosphoserine(MAPK)HMM predict
630Phosphoserine(ATM)HMM predict
642Phosphoserine(PKG)HMM predict
652N-linkedHMM predict
666Phosphoserine(PKA)HMM predict
666Phosphoserine(PKG)HMM predict
666Phosphoserine(PKB)HMM predict
700Phosphoserine(PKA)HMM predict
701Phosphoserine(IKK)HMM predict
819O-linkedHMM predict
820O-linkedHMM predict
823O-linkedHMM predict
872Phosphoserine(PKA)HMM predict
872Phosphoserine(PKG)HMM predict
880O-linkedHMM predict
880Phosphoserine(CDC2)HMM predict
882O-linkedHMM predict
883O-linkedHMM predict
883Phosphothreonine(CDC2)HMM predict
894Phosphoserine(CAMK2)HMM predict
968Phosphoserine(CK1)HMM predict
994Phosphothreonine(PKA)HMM predict
1000N-linkedHMM predict
1004N-linkedHMM predict
1061N-linkedHMM predict
1062N-linkedHMM predict
1302O-linkedHMM predict
1313Phosphoserine(IKK)HMM predict
1313Phosphoserine(ATM)HMM predict
1326Phosphoserine(PKB)HMM predict
1334ArginineHMM predict
1337Phosphothreonine(PKA)HMM predict
1337Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020845
  • Location:chr12 122033979-122160927
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 122176585 122177577 992 16154
CTCF G2GSE9613 122171118 122171365 247 10314
CTCF G2GSE9613 122176919 122177099 180 16082
Fos K562GSE19551 122176899 122177692 793 16368
Myc K562GSE19551 122176910 122177434 524 16245
Myc hESGSE17917 122160864 122161111 247 60
Nanog hESGSE18292 122169618 122169885 267 8824
P300 T30-glioblastomaGSE21026 122176666 122177955 1289 16383
Rb GrowingGSE19898 122165928 122166113 185 5093
Rb QuiescentGSE19898 122165848 122166267 419 5130
VDR GM10855-stimGSE22484 122169914 122171793 1879 9926
VDR GM10861-stimGSE22484 122169984 122171947 1963 10038
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 122093252 122095160 1908 0
CTCF CD4GSE12889 122114165 122114313 148 0
CTCF CD4SISSRdata 122114165 122114313 148 0
CTCF G2GSE9613 122035153 122035412 259 0
CTCF G2GSE9613 122036386 122037189 803 0
CTCF G2GSE9613 122037444 122037763 319 0
CTCF G2GSE9613 122038177 122038492 315 0
CTCF G2GSE9613 122038762 122039044 282 0
CTCF G2GSE9613 122039394 122040424 1030 0
CTCF G2GSE9613 122041064 122041968 904 0
CTCF G2GSE9613 122042385 122043293 908 0
CTCF G2GSE9613 122045254 122045696 442 0
CTCF G2GSE9613 122046792 122047274 482 0
CTCF G2GSE9613 122049633 122049838 205 0
CTCF G2GSE9613 122050499 122050715 216 0
CTCF G2GSE9613 122051175 122051539 364 0
CTCF G2GSE9613 122053708 122054144 436 0
CTCF G2GSE9613 122054643 122056001 1358 0
CTCF G2GSE9613 122057474 122057650 176 0
CTCF G2GSE9613 122061086 122061685 599 0
CTCF G2GSE9613 122072567 122073267 700 0
CTCF G2GSE9613 122075439 122075906 467 0
CTCF G2GSE9613 122077005 122077230 225 0
CTCF G2GSE9613 122078205 122078660 455 0
CTCF G2GSE9613 122079096 122079683 587 0
CTCF G2GSE9613 122083493 122084011 518 0
CTCF G2GSE9613 122088436 122088643 207 0
CTCF G2GSE9613 122091852 122092208 356 0
CTCF G2GSE9613 122092487 122092702 215 0
CTCF G2GSE9613 122093312 122094744 1432 0
CTCF G2GSE9613 122099843 122100100 257 0
CTCF G2GSE9613 122100821 122101146 325 0
CTCF G2GSE9613 122106918 122107268 350 0
CTCF G2GSE9613 122107946 122108336 390 0
CTCF G2GSE9613 122108934 122109164 230 0
CTCF G2GSE9613 122110496 122110845 349 0
CTCF G2GSE9613 122112436 122112678 242 0
CTCF G2GSE9613 122113337 122113661 324 0
CTCF G2GSE9613 122115468 122117458 1990 0
CTCF G2GSE9613 122121371 122121587 216 0
CTCF G2GSE9613 122125169 122125415 246 0
CTCF G2GSE9613 122126205 122126626 421 0
CTCF G2GSE9613 122128032 122129797 1765 0
CTCF G2GSE9613 122134055 122134423 368 0
CTCF G2GSE9613 122135690 122135826 136 0
CTCF G2GSE9613 122139251 122139593 342 0
CTCF G2GSE9613 122141417 122141783 366 0
CTCF G2GSE9613 122144666 122144922 256 0
CTCF G2GSE9613 122147204 122147476 272 0
CTCF G2GSE9613 122150138 122150497 359 0
CTCF G2GSE9613 122153929 122154127 198 0
CTCF G2GSE9613 122156085 122157048 963 0
CTCF G2GSE9613 122157549 122158493 944 0
CTCF G2GSE9613 122159946 122160160 214 0
ER MCF7GSE19013 122110292 122111185 893 0
ER MCF7GSE19013 122113155 122113919 764 0
ER MCF7GSE19013 122119939 122121282 1343 0
ER MCF7GSE19013 122124015 122124573 558 0
ER MCF7GSE19013 122156826 122157535 709 0
FOXA1 MCF7GSE15244 122085256 122085642 386 0
FOXA1 MCF7GSE15244 122139940 122140471 531 0
FOXA1 MCF7GSE15244 122145179 122146797 1618 0
FOXA1 MCF7GSE15244 122153194 122153396 202 0
Fos K562GSE19551 122106263 122106950 687 0
Fos K562GSE19551 122139889 122140946 1057 0
GATA3 MCF7GSE15244 122123146 122123682 536 0
H3ac HepG2E 122034738 122035115 377 0
KLF4 hESGSE17917 122114333 122114508 175 0
KLF4 hESGSE17917 122117303 122117467 164 0
NRSF JurkatSISSRdata 122064311 122064481 170 0
NRSF pAbJurkat 122039394 122040312 918 0
NRSF pAbJurkat 122044784 122045435 651 0
NRSF pAbJurkat 122049633 122049874 241 0
NRSF pAbJurkat 122077005 122077230 225 0
P300 T30-glioblastomaGSE21026 122144748 122146678 1930 0
RARA MCF7GSE15244 122113337 122114058 721 0
RARA MCF7GSE15244 122125876 122127152 1276 0
RARA MCF7GSE15244 122136211 122136722 511 0
RARA MCF7GSE15244 122139940 122140471 531 0
RARA MCF7GSE15244 122144597 122146445 1848 0
RARA MCF7GSE15244 122153122 122153891 769 0
RARG MCF7GSE15244 122061172 122061514 342 0
RARG MCF7GSE15244 122113337 122114058 721 0
RARG MCF7GSE15244 122120589 122122187 1598 0
RARG MCF7GSE15244 122125912 122127188 1276 0
RARG MCF7GSE15244 122136211 122136722 511 0
RARG MCF7GSE15244 122139978 122140471 493 0
RARG MCF7GSE15244 122142115 122143107 992 0
RARG MCF7GSE15244 122144634 122146270 1636 0
RARG MCF7GSE15244 122153085 122153929 844 0
Rb SenescentGSE19898 122092760 122093066 306 0
Rb SenescentGSE19898 122109508 122109806 298 0
TAF HelaGSE8489 122122864 122123682 818 0
TFAP2C MCF7GSE21234 122037837 122038409 572 0
TFAP2C MCF7GSE21234 122113231 122114154 923 0
TFAP2C MCF7GSE21234 122126061 122126805 744 0
TFAP2C MCF7GSE21234 122132520 122132951 431 0
TFAP2C MCF7GSE21234 122136212 122136719 507 0
TFAP2C MCF7GSE21234 122144731 122146595 1864 0
VDR GM10855-stimGSE22484 122133777 122136192 2415 0
VDR GM10861-stimGSE22484 122133679 122136073 2394 0
hScc1 BcellGSE12603 122036311 122036771 460 0
hScc1 BcellGSE12603 122041770 122042079 309 0
hScc1 BcellGSE12603 122057474 122057716 242 0
hScc1 BcellGSE12603 122064416 122064776 360 0
hScc1 BcellGSE12603 122093768 122094624 856 0
hScc1 BcellGSE12603 122121927 122122111 184 0
hScc1 BcellGSE12603 122126242 122126626 384 0
hScc1 BcellGSE12603 122134785 122135068 283 0
hScc1 BcellGSE12603 122144666 122145179 513 0
hScc1 BcellGSE12603 122156442 122156708 266 0
hScc1 BcellGSE12603 122157471 122157762 291 0
hScc1 CdLSGSE12603 122093768 122094525 757 0
hScc1 G2GSE9613 122046792 122047297 505 0
hScc1 G2GSE9613 122050401 122050751 350 0
hScc1 G2GSE9613 122077005 122077230 225 0
hScc1 G2GSE9613 122093585 122094930 1345 0
p130 QuiescentGSE19898 122092926 122093151 225 0
p130 QuiescentGSE19898 122094278 122094642 364 0
p130 SenescentGSE19898 122094058 122094581 523 0
p130 SenescentGSE19898 122140484 122140742 258 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
6754 mRNA chr12 122090810 122094171 3361 mRNA PITPNM2 chr12 121992907 122160165 Non-exonic Bidirectional (NOB) 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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