AutismKB 2.0

Annotation Detail for RUNX2


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Basic Information Top
Gene Symbol:RUNX2 ( AML3,CBFA1,CCD,CCD1,MGC120022,MGC120023,OSF-2,OSF2,PEA2aA,PEBP2A1,PEBP2A2,PEBP2aA,PEBP2aA1 )
Gene Full Name: runt-related transcription factor 2
Band: 6p21.1
Quick LinksEntrez ID:860; OMIM: 600211; Uniprot ID:RUNX2_HUMAN; ENSEMBL ID: ENSG00000124813; HGNC ID: 10472
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
8O-linkedHMM predict
8O-linkedHMM predict
9O-linkedHMM predict
28Phosphoserine(CAMK2)HMM predict
28Phosphoserine(CDC2)HMM predict
28Phosphoserine(PKB)HMM predict
28Phosphoserine(IKK)HMM predict
28Phosphoserine(ATM)HMM predict
99N-linkedHMM predict
133N-linkedHMM predict
196Phosphoserine(IKK)HMM predict
247Phosphoserine(CK1)HMM predict
269O-linkedHMM predict
272Phosphoserine(IKK)HMM predict
275Phosphoserine(CDC2)HMM predict
294Phosphoserine(ATM)HMM predict
312Phosphoserine(ATM)HMM predict
319Phosphothreonine(CDK)HMM predict
323O-linkedHMM predict
340Phosphoserine(PKB)HMM predict
357Phosphoserine(CK1)HMM predict
381Phosphoserine(CK1)HMM predict
401O-linkedHMM predict
409O-linkedHMM predict
420O-linkedHMM predict
421Phosphotyrosine(Syk)HMM predict
430O-linkedHMM predict
430O-linkedHMM predict
432Phosphoserine(ATM)HMM predict
432Phosphoserine(IKK)HMM predict
451O-linkedHMM predict
467O-linkedHMM predict
478N-linkedHMM predict
484N-linkedHMM predict
499O-linkedHMM predict
501PhosphoserineHMM predict
503Phosphoserine(CDC2)HMM predict
503Phosphoserine(CDK)HMM predict
505O-linkedHMM predict
508N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001024630
  • Location:chr6 45404031-45626795
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 45453058 45454056 998 0
CTCF G2GSE9613 45495659 45496050 391 0
H3K27me3 colorectalcancer 45494927 45495720 793 0
H3K27me3 colorectalcancer 45496012 45496822 810 0
H3K4me2 HCT116GSE10453 45452646 45453182 536 0
H3K4me3 colorectalcancer 45452646 45453219 573 0
H3K4me3 colorectalcancer 45496251 45497368 1117 0
H3ac HepG2E 45452646 45453318 672 0
H3ac HepG2E 45453843 45454280 437 0
Oct1 H2O2-HelaGSE14283 45481783 45481826 43 0
Oct1 HelaGSE14283 45481738 45481826 88 0
Oct1 HelaGSE14283 45485291 45485317 26 0
PHF8 Hs68minusFBSGSE20725 45453287 45454427 1140 0
TAF HelaGSE8489 45452646 45453219 573 0
TAF k562GSE8489 45452646 45453182 536 0
TAF k562GSE8489 45453881 45455091 1210 0
TFAP2C MCF7GSE21234 45487671 45488017 346 0
hScc1 BcellGSE12603 45453027 45454251 1224 0
hScc1 BcellGSE12603 45495260 45495860 600 0
hScc1 CdLSGSE12603 45452819 45454173 1354 0
hScc1 CdLSGSE12603 45494854 45495587 733 0
hScc1 G2GSE9613 45453027 45454251 1224 0
p130 QuiescentGSE19898 45453287 45454426 1139 0
p130 SenescentGSE19898 45453357 45454226 869 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-122 hsa-mir-122 18 20960104
hsa-miR-122* hsa-mir-122 18 20960104
hsa-miR-133a hsa-mir-133a-1 18 18784367
hsa-miR-133a hsa-mir-133a-2 20 18784367
hsa-miR-133b hsa-mir-133b 6 18784367
hsa-miR-135a hsa-mir-135a-1 3 18784367
hsa-miR-135a hsa-mir-135a-2 12 18784367
hsa-miR-135a* hsa-mir-135a-1 3 18784367
hsa-miR-135b hsa-mir-135b 1 19795981
hsa-miR-135b hsa-mir-135b 1 18784367
hsa-miR-135b* hsa-mir-135b 1 19795981
hsa-miR-135b* hsa-mir-135b 1 18784367
hsa-miR-141 hsa-mir-141 12 18698484
hsa-miR-141* hsa-mir-141 12 18698484
hsa-miR-155 hsa-mir-155 21 20427544
hsa-miR-155 hsa-mir-155 21 20039311
hsa-miR-155* hsa-mir-155 21 20427544
hsa-miR-155* hsa-mir-155 21 20039311
hsa-miR-181b hsa-mir-181b-1 1 21042576
hsa-miR-181b hsa-mir-181b-2 9 21042576
hsa-miR-195 hsa-mir-195 17 20845893
hsa-miR-195* hsa-mir-195 17 20845893
hsa-miR-200a hsa-mir-200a 1 18698484
hsa-miR-200a* hsa-mir-200a 1 18698484
hsa-miR-200b hsa-mir-200b 1 18698484
hsa-miR-200b* hsa-mir-200b 1 18698484
hsa-miR-200c hsa-mir-200c 12 18698484
hsa-miR-200c* hsa-mir-200c 12 18698484
hsa-miR-203 hsa-mir-203 14 21368580
hsa-miR-203 hsa-mir-203 14 21159887
hsa-miR-204 hsa-mir-204 9 20039258
hsa-miR-205 hsa-mir-205 1 18698484
hsa-miR-20b hsa-mir-20b X 21042576
hsa-miR-20b* hsa-mir-20b X 21042576
hsa-miR-211 hsa-mir-211 15 20039258
hsa-miR-224 hsa-mir-224 X 19795981
hsa-miR-26a hsa-mir-26a-1 3 20845893
hsa-miR-26a hsa-mir-26a-2 12 20845893
hsa-miR-30b hsa-mir-30b 8 20845893
hsa-miR-30b* hsa-mir-30b 8 20845893
hsa-miR-31 hsa-mir-31 9 19795981
hsa-miR-31* hsa-mir-31 9 19795981
hsa-miR-335 hsa-mir-335 7 21164520
hsa-miR-335* hsa-mir-335 7 21164520
hsa-miR-34a hsa-mir-34a 1 21042576
hsa-miR-34a* hsa-mir-34a 1 21042576
hsa-miR-34c-3p hsa-mir-34c 11 18784367
hsa-miR-34c-5p hsa-mir-34c 11 18784367
hsa-miR-429 hsa-mir-429 1 18698484
hsa-miR-493 hsa-mir-493 14 20960104
hsa-miR-493* hsa-mir-493 14 20960104
hsa-miR-586 hsa-mir-586 6 19259136
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
22654 mRNA RUNX2 chr6 45404037 45404498 461 EST chr6 45181640 45453638 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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