AutismKB 2.0

Annotation Detail for RBL2


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Basic Information Top
Gene Symbol:RBL2 ( FLJ26459,P130,Rb2 )
Gene Full Name: retinoblastoma-like 2 (p130)
Band: 16q12.2
Quick LinksEntrez ID:5934; OMIM: 180203; Uniprot ID:RBL2_HUMAN; ENSEMBL ID: ENSG00000103479; HGNC ID: 9894
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
401Phosphothreonine.
413Phosphoserine (By similarity).
417Phosphothreonine (By similarity).
639Phosphoserine.
642Phosphothreonine.
662Phosphoserine.
671Phosphoserine.
672Phosphoserine.
688Phosphoserine.
948Phosphoserine (By similarity).
952Phosphoserine.
966Phosphoserine.
971Phosphoserine (Probable).
972Phosphoserine (Probable).
973Phosphoserine (Probable).
974Phosphothreonine (Probable).
981Phosphoserine (Probable).
982Phosphoserine.
986Phosphothreonine.
1019Phosphothreonine.
1035Phosphoserine.
1110Phosphoserine.
1112Phosphoserine.
Location(AA) Modifications Resource
401Phosphothreonine (CDK4;CDK6)Phospho.ELM 6.0
413Phosphoserine (By similarity).Swiss-Prot 53.0
413Phosphoserine (CDK2;CDK
417Phosphothreonine (By similarity).Swiss-Prot 53.0
417Phosphothreonine (CDK2;CDK
639Phosphoserine (CDK2)Phospho.ELM 6.0
639Phosphoserine.Swiss-Prot 53.0
642Phosphothreonine (CDK2;CDK
642Phosphothreonine (By similarity).Swiss-Prot 53.0
662Phosphoserine (CDK2;CDK
672Phosphoserine (CDK4;CDK6)Phospho.ELM 6.0
672Phosphoserine.Swiss-Prot 53.0
688Phosphoserine (CDK2;CDK
694Phosphothreonine (CDK2;CDK
948PhosphoserinePhospho.ELM 6.0
948Phosphoserine (By similarity).Swiss-Prot 53.0
952Phosphoserine (CDK2)Phospho.ELM 6.0
952Phosphoserine.Swiss-Prot 53.0
962PhosphoserinePhospho.ELM 6.0
966PhosphoserinePhospho.ELM 6.0
966Phosphoserine.Swiss-Prot 53.0
971PhosphoserinePhospho.ELM 6.0
971Phosphoserine (Probable).Swiss-Prot 53.0
972Phosphoserine (Probable).Swiss-Prot 53.0
972PhosphoserinePhospho.ELM 6.0
973Phosphoserine (CDK2)Phospho.ELM 6.0
973Phosphoserine (Probable).Swiss-Prot 53.0
974Phosphothreonine (Probable).Swiss-Prot 53.0
974PhosphothreoninePhospho.ELM 6.0
981Phosphoserine (Probable).Swiss-Prot 53.0
981PhosphoserinePhospho.ELM 6.0
982Phosphoserine (Probable).Swiss-Prot 53.0
982Phosphoserine (CDK2)Phospho.ELM 6.0
986Phosphothreonine.Swiss-Prot 53.0
986PhosphothreoninePhospho.ELM 6.0
1035Phosphoserine (CDK4;CDK6)Phospho.ELM 6.0
1044Phosphoserine (CDK2;CDK
1068Phosphoserine (CDK2;CDK
1080Phosphoserine (CDK2;CDK
1097Phosphothreonine (CDK2;CDK
1112Phosphoserine (CDK2;CDK
Location(AA) Modification Resource
8Phosphoserine(IKK)HMM predict
8Phosphoserine(CDK)HMM predict
8Phosphoserine(ATM)HMM predict
21PhosphoserineHMM predict
21Phosphoserine(CK2)HMM predict
40Phosphoserine(CDC2)HMM predict
40PhosphoserineHMM predict
103O-linkedHMM predict
111Phosphotyrosine(EGFR)HMM predict
149Phosphothreonine(PKA)HMM predict
155N-linkedHMM predict
157Phosphothreonine(PKC)HMM predict
176SulfotyrosineHMM predict
255MethyllysineHMM predict
269O-linkedHMM predict
317N-linkedHMM predict
417PhosphothreonineHMM predict
417O-linkedHMM predict
417Phosphothreonine(MAPK)HMM predict
420O-linkedHMM predict
500Phosphotyrosine(Jak)HMM predict
565Phosphotyrosine(Syk)HMM predict
639Phosphoserine(CDK)HMM predict
642Phosphothreonine(CDC2)HMM predict
642Phosphothreonine(MAPK)HMM predict
647Phosphothreonine(PKC)HMM predict
647Phosphothreonine(PKA)HMM predict
662Phosphoserine(CDC2)HMM predict
662Phosphoserine(MAPK)HMM predict
664O-linkedHMM predict
672Phosphoserine(ATM)HMM predict
672O-linkedHMM predict
672PhosphoserineHMM predict
672Phosphoserine(PKA)HMM predict
672Phosphoserine(CDC2)HMM predict
677Phosphothreonine(PKC)HMM predict
678Phosphothreonine(PKC)HMM predict
686N-linkedHMM predict
690O-linkedHMM predict
694Phosphothreonine(CDC2)HMM predict
711N-linkedHMM predict
718O-linkedHMM predict
720Phosphothreonine(MAPK)HMM predict
720O-linkedHMM predict
729O-linkedHMM predict
734O-linkedHMM predict
788Phosphoserine(CK1)HMM predict
788Phosphoserine(IKK)HMM predict
791Phosphoserine(ATM)HMM predict
795O-linkedHMM predict
797O-linkedHMM predict
822Phosphoserine(IKK)HMM predict
824O-linkedHMM predict
826Phosphoserine(CDC2)HMM predict
833Phosphothreonine(PKA)HMM predict
834Phosphoserine(PKA)HMM predict
834Phosphoserine(PKG)HMM predict
927Phosphotyrosine(EGFR)HMM predict
941PhosphoserineHMM predict
941Phosphoserine(CK2)HMM predict
941Phosphoserine(IKK)HMM predict
941Phosphoserine(PKG)HMM predict
961Phosphothreonine(PKC)HMM predict
966PhosphoserineHMM predict
973O-linkedHMM predict
981O-linkedHMM predict
982Phosphoserine(IKK)HMM predict
982O-linkedHMM predict
986Phosphothreonine(MAPK)HMM predict
986Phosphothreonine(CDC2)HMM predict
986Phosphothreonine(CDK)HMM predict
991Phosphothreonine(PKA)HMM predict
995Phosphoserine(CK2)HMM predict
1013Phosphotyrosine(INSR)HMM predict
1025Phosphoserine(PKG)HMM predict
1035Phosphoserine(ATM)HMM predict
1035Phosphoserine(MAPK)HMM predict
1044Phosphoserine(CDC2)HMM predict
1051Phosphoserine(ATM)HMM predict
1059Phosphoserine(CDC2)HMM predict
1059Phosphoserine(CDK)HMM predict
1063N-linkedHMM predict
1068Phosphoserine(CDC2)HMM predict
1080Phosphoserine(CDK)HMM predict
1080Phosphoserine(CDC2)HMM predict
1097Phosphothreonine(MAPK)HMM predict
1112Phosphoserine(CDC2)HMM predict
1112Phosphoserine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005611
  • Location:chr16 52025900-52083059
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 52024721 52025553 832 764
Oct1 HelaGSE14283 52024913 52024943 30 973
STAT1 HeLaGSE12782 52010401 52012249 1848 14576
STAT1 HeLaGSE12783 52010401 52012148 1747 14626
TFAP2C MCF7GSE21234 52020443 52020809 366 5275
TFAP2C MCF7GSE21234 52024993 52025630 637 589
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 52049138 52049361 223 0
CTCF CD4SISSRdata 52049138 52049361 223 0
CTCF G2GSE9613 52025967 52026162 195 0
ETS1 JurkatGSE17954 52025198 52027254 2056 0
Fos K562GSE19551 52026596 52027162 566 0
Fos K562GSE19551 52056910 52057404 494 0
H3ac HepG2E 52026395 52027599 1204 0
Myc hESGSE17917 52026026 52026322 296 0
Oct1 H2O2-HelaGSE14283 52063395 52063433 38 0
Oct1 HelaGSE14283 52063395 52063434 39 0
P300 T30-glioblastomaGSE21026 52025299 52027453 2154 0
TFAP2C MCF7GSE21234 52026442 52027181 739 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 21327300
hsa-let-7a hsa-let-7a-2 11 21327300
hsa-let-7a hsa-let-7a-3 22 21327300
hsa-let-7a* hsa-let-7a-3 22 21327300
hsa-miR-107 hsa-mir-107 10 20833636
hsa-miR-148a hsa-mir-148a 7 21327300
hsa-miR-148a* hsa-mir-148a 7 21327300
hsa-miR-152 hsa-mir-152 17 21327300
hsa-miR-17 hsa-mir-17 13 18287052
hsa-miR-17 hsa-mir-17 13 17765889
hsa-miR-17* hsa-mir-17 13 18287052
hsa-miR-17* hsa-mir-17 13 17765889
hsa-miR-18b hsa-mir-18b 0 21327300
hsa-miR-18b* hsa-mir-18b 0 21327300
hsa-miR-92a hsa-mir-92a-1 13 18287052
hsa-miR-92a hsa-mir-92a-2 X 18287052
hsa-miR-92a hsa-mir-92a-1 13 17765889
hsa-miR-92a hsa-mir-92a-2 X 17765889
No data
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
10007 mRNA RBL2 chr16 52025900 52083060 367 mRNA FTS chr16 52082693 52094671Sense/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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