AutismKB 2.0

Annotation Detail for LRP2


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Basic Information Top
Gene Symbol:LRP2 ( DBS,GP330 )
Gene Full Name: low density lipoprotein receptor-related protein 2
Band: 2q31.1
Quick LinksEntrez ID:4036; OMIM: 600073; Uniprot ID:LRP2_HUMAN; ENSEMBL ID: ENSG00000081479; HGNC ID: 6694
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
159N-linked (GlcNAc...) (Potential).
178N-linked (GlcNAc...) (Potential).
299N-linked (GlcNAc...) (Potential).
300N-linked (GlcNAc...) (Potential).
341N-linked (GlcNAc...) (Potential).
388N-linked (GlcNAc...) (Potential).
463N-linked (GlcNAc...) (Potential).
866N-linked (GlcNAc...) (Potential).
1064N-linked (GlcNAc...) (Potential).
1144N-linked (GlcNAc...) (Potential).
1186N-linked (GlcNAc...) (Potential).
1327N-linked (GlcNAc...) (Potential).
1340N-linked (GlcNAc...) (Potential).
1383N-linked (GlcNAc...) (Potential).
1464N-linked (GlcNAc...) (Potential).
1496N-linked (GlcNAc...) (Potential).
1550N-linked (GlcNAc...) (Potential).
1675N-linked (GlcNAc...) (Potential).
1810N-linked (GlcNAc...) (Potential).
2055N-linked (GlcNAc...) (Potential).
2177N-linked (GlcNAc...) (Potential).
2224N-linked (GlcNAc...) (Potential).
2499N-linked (GlcNAc...) (Potential).
2547N-linked (GlcNAc...) (Potential).
2781N-linked (GlcNAc...) (Potential).
2809N-linked (GlcNAc...) (Potential).
2810N-linked (GlcNAc...) (Potential).
2947N-linked (GlcNAc...) (Potential).
2987N-linked (GlcNAc...) (Potential).
3125N-linked (GlcNAc...) (Potential).
3211N-linked (GlcNAc...) (Potential).
3257N-linked (GlcNAc...) (Potential).
3315N-linked (GlcNAc...) (Potential).
3355N-linked (GlcNAc...) (Potential).
3446N-linked (GlcNAc...) (Potential).
3564N-linked (GlcNAc...) (Potential).
3680N-linked (GlcNAc...) (Potential).
3978N-linked (GlcNAc...) (Potential).
4068N-linked (GlcNAc...) (Potential).
4327N-linked (GlcNAc...) (Potential).
4459SH3-binding (Potential).
4462SH3-binding (Potential).
4463Phosphoserine (By similarity).
4471Phosphoserine (By similarity).
4526Endocytosis signal (Potential).
4569Phosphoserine.
4598Endocytosis signal (Potential).
4601SH2-binding (Potential).
4617SH3-binding (Potential).
4622SH3-binding (Potential).
Location(AA) Modifications Resource
159N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
178N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
299N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
300N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
341N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
388N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
463N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
866N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1064N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1144N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1186N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1327N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1340N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1383N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1464N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1496N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1550N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1675N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1810N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2055N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2177N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2224N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2499N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2547N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2781N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2809N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2810N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2947N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
2987N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3125N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3211N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3257N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3315N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3355N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3446N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3564N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3680N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
3978N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4068N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
4327N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
104Phosphoserine(ATM)HMM predict
173Phosphoserine(CK2)HMM predict
174PhosphoserineHMM predict
178N-linkedHMM predict
272Phosphoserine(IKK)HMM predict
299N-linkedHMM predict
300N-linkedHMM predict
341N-linkedHMM predict
739N-linkedHMM predict
805Phosphotyrosine(INSR)HMM predict
839Phosphotyrosine(Jak)HMM predict
866N-linkedHMM predict
1064N-linkedHMM predict
1065N-linkedHMM predict
1069Phosphoserine(CDC2)HMM predict
1144N-linkedHMM predict
1186N-linkedHMM predict
1340N-linkedHMM predict
1383N-linkedHMM predict
1419Phosphotyrosine(INSR)HMM predict
1467Phosphotyrosine(INSR)HMM predict
1496N-linkedHMM predict
1550N-linkedHMM predict
1553N-linkedHMM predict
1700Phosphoserine(IKK)HMM predict
1717Phosphoserine(ATM)HMM predict
1791SulfotyrosineHMM predict
1810N-linkedHMM predict
1859Phosphothreonine(PKA)HMM predict
1974SulfotyrosineHMM predict
1975SulfotyrosineHMM predict
1980Phosphotyrosine(INSR)HMM predict
1980Phosphotyrosine(SRC)HMM predict
1980Phosphotyrosine(Syk)HMM predict
2045S-palmitoylHMM predict
2055N-linkedHMM predict
2081Phosphoserine(CK1)HMM predict
2081Phosphoserine(CK2)HMM predict
2081Phosphoserine(ATM)HMM predict
2117Phosphoserine(CK2)HMM predict
2177N-linkedHMM predict
2224N-linkedHMM predict
2230O-linkedHMM predict
2247SulfotyrosineHMM predict
2337Phosphoserine(CDC2)HMM predict
2407N-linkedHMM predict
2485Phosphotyrosine(Syk)HMM predict
2499N-linkedHMM predict
2520Phosphotyrosine(Jak)HMM predict
2635Phosphoserine(ATM)HMM predict
2742Phosphoserine(MAPK)HMM predict
2744O-linkedHMM predict
2762Phosphotyrosine(Syk)HMM predict
2781N-linkedHMM predict
2809N-linkedHMM predict
2810N-linkedHMM predict
2811Phosphothreonine(CK2)HMM predict
2812Phosphoserine(CK2)HMM predict
2816N-linkedHMM predict
2855N-linkedHMM predict
2947N-linkedHMM predict
2987N-linkedHMM predict
3125N-linkedHMM predict
3211N-linkedHMM predict
3257N-linkedHMM predict
3260N-linkedHMM predict
3315N-linkedHMM predict
3316N-linkedHMM predict
3334Phosphotyrosine(Jak)HMM predict
3446N-linkedHMM predict
3539Phosphoserine(ATM)HMM predict
3564N-linkedHMM predict
3596Phosphoserine(CK1)HMM predict
3673Phosphoserine(CK1)HMM predict
3680N-linkedHMM predict
3871Phosphoserine(CK2)HMM predict
3978N-linkedHMM predict
3983N-linkedHMM predict
4068N-linkedHMM predict
4075Phosphoserine(CK1)HMM predict
4083Phosphotyrosine(EGFR)HMM predict
4083Phosphotyrosine(INSR)HMM predict
4083PhosphotyrosineHMM predict
4119Phosphotyrosine(Jak)HMM predict
4316Phosphothreonine(PKC)HMM predict
4327N-linkedHMM predict
4332N-linkedHMM predict
4419Phosphoserine(CDC2)HMM predict
4552Phosphotyrosine(INSR)HMM predict
4554Phosphoserine(CDC2)HMM predict
4557N-linkedHMM predict
4566N-linkedHMM predict
4569O-linkedHMM predict
4569Phosphoserine(MAPK)HMM predict
4598Phosphotyrosine(EGFR)HMM predict
4598Phosphotyrosine(INSR)HMM predict
4598Phosphotyrosine(SRC)HMM predict
4598SulfotyrosineHMM predict
4608Phosphoserine(IKK)HMM predict
4612O-linkedHMM predict
4612O-linkedHMM predict
4612Phosphothreonine(MAPK)HMM predict
4612PhosphothreonineHMM predict
4616O-linkedHMM predict
4632Phosphothreonine(MAPK)HMM predict
4635Phosphotyrosine(SRC)HMM predict
4641PhosphothreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004525
  • Location:chr2 169693106-169927258
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 169928400 169929496 1096 1690
ER E2-MCF7GSE14664 169930657 169930689 32 3415
GABP k562GSE8489 169941146 169941504 358 14067
H3K27me3 colorectalcancer 169927643 169929091 1448 1109
H3K4me3 colorectalcancer 169927643 169929037 1394 1082
H3K4me3 colorectalcancer 169929596 169930097 501 2588
Oct1 H2O2-HelaGSE14283 169931776 169931809 33 4534
Oct1 H2O2-HelaGSE14283 169940466 169940494 28 13222
Oct1 H2O2-HelaGSE14283 169941492 169941522 30 14249
Oct1 H2O2-HelaGSE14283 169944965 169944997 32 17723
Oct1 HelaGSE14283 169930652 169930689 37 3412
Oct1 HelaGSE14283 169931774 169931812 38 4535
Oct1 HelaGSE14283 169940461 169940494 33 13219
Oct1 HelaGSE14283 169944964 169945000 36 17724
hScc1 BcellGSE12603 169927443 169927748 305 337
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 169690386 169690442 56 2693
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 169696718 169697151 433 0
CTCF CD4GSE12889 169706605 169706891 286 0
CTCF CD4SISSRdata 169696718 169697151 433 0
CTCF CD4SISSRdata 169706605 169706891 286 0
CTCF JurkatGSE12889 169706551 169706834 283 0
CTCF G2GSE9613 169696720 169697042 322 0
CTCF G2GSE9613 169706576 169706958 382 0
CTCF G2GSE9613 169733132 169733316 184 0
CTCF G2GSE9613 169926589 169927230 641 0
ER E2-MCF7GSE14664 169806505 169806581 76 0
ER E2-MCF7GSE14664 169806697 169806733 36 0
ER E2-MCF7GSE14664 169824500 169824593 93 0
ER E2-MCF7GSE14664 169827611 169827648 37 0
ER E2-MCF7GSE14664 169839084 169839122 38 0
ER Fulvestrant-MCF7GSE14664 169819870 169819924 54 0
ER Fulvestrant-MCF7GSE14664 169820909 169820942 33 0
ER Fulvestrant-MCF7GSE14664 169821335 169821372 37 0
ER Fulvestrant-MCF7GSE14664 169824542 169824584 42 0
ER Fulvestrant-MCF7GSE14664 169871535 169871627 92 0
ER MCF7GSE19013 169768606 169769113 507 0
FOXA1 MCF7GSE15244 169768532 169769260 728 0
FOXA1 MCF7GSE15244 169858602 169859882 1280 0
FOXA1 MCF7GSE15244 169894928 169895555 627 0
Fos K562GSE19551 169728997 169729524 527 0
Fos K562GSE19551 169754781 169755452 671 0
FoxA1 MCF7MACSdata 169768691 169769079 388 0
FoxA1 MCF7MACSdata 169859117 169859351 234 0
H3K27me3 colorectalcancer 169925209 169926018 809 0
H3K27me3 colorectalcancer 169926332 169926627 295 0
Myc K562GSE19551 169727400 169727912 512 0
NRSF mAbJurkat 169862240 169862924 684 0
NRSF mAbJurkat 169863259 169864428 1169 0
Nanog ESGSE20650 169865771 169865990 219 0
Oct1 H2O2-HelaGSE14283 169734777 169734804 27 0
Oct1 H2O2-HelaGSE14283 169772605 169772633 28 0
Oct1 H2O2-HelaGSE14283 169786177 169786235 58 0
Oct1 H2O2-HelaGSE14283 169821031 169821063 32 0
Oct1 H2O2-HelaGSE14283 169832817 169832844 27 0
Oct1 H2O2-HelaGSE14283 169834258 169834284 26 0
Oct1 H2O2-HelaGSE14283 169919442 169919472 30 0
Oct1 HelaGSE14283 169719767 169719799 32 0
Oct1 HelaGSE14283 169734769 169734804 35 0
Oct1 HelaGSE14283 169772589 169772637 48 0
Oct1 HelaGSE14283 169827611 169827679 68 0
Oct1 HelaGSE14283 169840575 169840611 36 0
Oct1 HelaGSE14283 169864045 169864078 33 0
Oct1 HelaGSE14283 169881197 169881230 33 0
Oct1 HelaGSE14283 169903171 169903205 34 0
RARA MCF7GSE15244 169894928 169895555 627 0
RNAII Tamoxifen-MCF7GSE14664 169719763 169719798 35 0
RNAII Tamoxifen-MCF7GSE14664 169725187 169725225 38 0
STAT1 IFNSISSRdata 169748789 169749114 325 0
TAF k562GSE8489 169813006 169813350 344 0
TAF k562GSE8489 169858464 169858708 244 0
TFAP2C MCF7GSE21234 169894655 169895242 587 0
hScc1 BcellGSE12603 169926817 169927108 291 0
hScc1 CdLSGSE12603 169696545 169697077 532 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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