AutismKB 2.0

Annotation Detail for ABCB11


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Basic Information Top
Gene Symbol:ABCB11 ( ABC16,BRIC2,BSEP,PFIC-2,PFIC2,PGY4,SPGP )
Gene Full Name: ATP-binding cassette, sub-family B (MDR/TAP), member 11
Band: 2q31.1
Quick LinksEntrez ID:8647; OMIM: 603201; Uniprot ID:ABCBB_HUMAN; ENSEMBL ID: ENSG00000073734; HGNC ID: 42
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
109N-linked (GlcNAc...).
116N-linked (GlcNAc...).
122N-linked (GlcNAc...).
125N-linked (GlcNAc...).
690Phosphoserine (By similarity).
694Phosphoserine (By similarity).
701Phosphoserine (By similarity).
Location(AA) Modifications Resource
109N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
116N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
122N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
125N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
690Phosphoserine (By similarity).Swiss-Prot 53.0
694Phosphoserine (By similarity).Swiss-Prot 53.0
701Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
93SulfotyrosineHMM predict
109N-linkedHMM predict
110N-linkedHMM predict
122N-linkedHMM predict
125N-linkedHMM predict
274Phosphotyrosine(INSR)HMM predict
354Phosphotyrosine(INSR)HMM predict
355Phosphothreonine(MAPK)HMM predict
375N-linkedHMM predict
424N-linkedHMM predict
488Phosphoserine(CK1)HMM predict
602Phosphoserine(CK1)HMM predict
619Phosphothreonine(PKC)HMM predict
699Phosphoserine(CAMK2)HMM predict
705Phosphotyrosine(Jak)HMM predict
754Phosphotyrosine(SRC)HMM predict
765N-linkedHMM predict
853Phosphoserine(CDC2)HMM predict
853Phosphoserine(MAPK)HMM predict
885N-linkedHMM predict
1036Phosphoserine(PKB)HMM predict
1047Phosphoserine(PKG)HMM predict
1093Phosphoserine(IKK)HMM predict
1104Phosphoserine(ATM)HMM predict
1104Phosphoserine(CDC2)HMM predict
1108Phosphothreonine(PKC)HMM predict
1130Phosphotyrosine(Syk)HMM predict
1251Phosphothreonine(CK2)HMM predict
1315O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003742
  • Location:chr2 169487694-169596078
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 169600988 169601016 28 4924
Oct1 HelaGSE14283 169605426 169605467 41 9368
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 169485482 169485758 276 2075
CTCF CD4SISSRdata 169485482 169485758 276 2075
CTCF G2GSE9613 169485344 169485696 352 2175
NRSF JurkatSISSRdata 169481205 169481330 125 6427
Sox2 hESGSE18292 169485443 169485638 195 2154
hScc1 BcellGSE12603 169485344 169485654 310 2196
hScc1 CdLSGSE12603 169485344 169485696 352 2175
hScc1 G2GSE9613 169485344 169485765 421 2140
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 169513355 169513643 288 0
CTCF CD4GSE12889 169526472 169526773 301 0
CTCF CD4SISSRdata 169513355 169513643 288 0
CTCF CD4SISSRdata 169526472 169526773 301 0
CTCF G2GSE9613 169526289 169526589 300 0
CTCF G2GSE9613 169593082 169593411 329 0
ER E2-MCF7GSE14664 169529711 169529747 36 0
ER Fulvestrant-MCF7GSE14664 169529708 169529744 36 0
FOXA1 MCF7GSE15244 169528809 169529819 1010 0
Fos K562GSE19551 169576728 169577490 762 0
FoxA1 MCF7MACSdata 169528948 169529281 333 0
Gata2 K562GSE18868 169500510 169501427 917 0
Gata2 K562GSE18868 169540763 169541533 770 0
Gata2 K562GSE18868 169576734 169577500 766 0
KLF4 hESGSE17917 169553013 169553169 156 0
Myc K562GSE19551 169540713 169541431 718 0
Myc K562GSE19551 169576806 169577369 563 0
Nanog ESGSE20650 169518493 169518655 162 0
Nanog ESGSE20650 169572809 169572985 176 0
Nanog hESGSE18292 169526535 169526932 397 0
Oct1 H2O2-HelaGSE14283 169572234 169572269 35 0
Oct1 HelaGSE14283 169535311 169535338 27 0
Oct1 HelaGSE14283 169566702 169566732 30 0
Oct1 HelaGSE14283 169572231 169572271 40 0
RNAII Tamoxifen-MCF7GSE14664 169505648 169505692 44 0
RNAII Tamoxifen-MCF7GSE14664 169512858 169512946 88 0
STAT1 HeLaGSE12783 169577601 169578643 1042 0
Sox2 hESGSE18292 169526466 169526692 226 0
TFAP2C MCF7GSE21234 169528978 169529625 647 0
hScc1 BcellGSE12603 169526217 169526734 517 0
hScc1 CdLSGSE12603 169526117 169526823 706 0
p63 keratinocytesGSE17611 169556567 169558041 1474 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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