AutismKB 2.0

Annotation Detail for RUNX2


View Evidences View Variants View Annotations
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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body4 / 7076156
blastocyst0 / 623190 
fetus32 / 56401256
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult17 / 19391218
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal50 / 336030714
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone1 / 7165513
bone marrow1 / 4880120
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear24 / 162121480
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine8 / 23447234
kidney0 / 2117770 
larynx1 / 2414541
liver2 / 2077439
lung2 / 3369745
lymph0 / 442700 
lymph node2 / 9161021
mammary gland0 / 1532710 
mouth1 / 6705214
muscle1 / 1077159
nerve0 / 157680 
ovary4 / 10205139
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216994_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.75
Adipocyte4.1
AdrenalCortex4.6
Adrenalgland3.55
Amygdala4.45
Appendix4.45
AtrioventricularNode3.95
BDCA4+_DentriticCells4.75
Bonemarrow4.4
BronchialEpithelialCells3.95
CD105+_Endothelial4.2
CD14+_Monocytes4.4
CD19+_BCells(neg._sel.)4.55
CD33+_Myeloid5.25
CD34+5.1
CD4+_Tcells4.4
CD56+_NKCells4.85
CD71+_EarlyErythroid3.9
CD8+_Tcells3.95
CardiacMyocytes5.3
Caudatenucleus3.8
Cerebellum3.4
CerebellumPeduncles4.9
CiliaryGanglion3.5
CingulateCortex4.3
Colorectaladenocarcinoma4.15
DorsalRootGanglion3.45
FetalThyroid4.1
Fetalbrain4.2
Fetalliver3.6
Fetallung3.25
GlobusPallidus3.1
Heart5.35
Hypothalamus4.65
Kidney3.6
Leukemia_chronicMyelogenousK-5623.75
Leukemia_promyelocytic-HL-603.65
Leukemialymphoblastic(MOLT-4)3.35
Liver5.95
Lung4.5
Lymphnode3.55
Lymphoma_burkitts(Daudi)5.35
Lymphoma_burkitts(Raji)5.8
MedullaOblongata3.9
OccipitalLobe3.8
OlfactoryBulb3.3
Ovary2.85
Pancreas3.35
PancreaticIslet4.45
ParietalLobe4.6
Pituitary4.9
Placenta4.25
Pons4.1
PrefrontalCortex5.3
Prostate4.75
Salivarygland3.5
SkeletalMuscle5.9
Skin3.5
SmoothMuscle4.8
Spinalcord4.45
SubthalamicNucleus3.9
SuperiorCervicalGanglion5.2
TemporalLobe3.9
Testis3.6
TestisGermCell3.55
TestisIntersitial3.55
TestisLeydigCell4.2
TestisSeminiferousTubule3.6
Thalamus4.25
Thymus3.3
Thyroid5.3
Tongue4.4
Tonsil4.05
Trachea3.5
TrigeminalGanglion4.2
Uterus3.4
UterusCorpus4.4
WholeBlood4.6
Wholebrain3.4
colon4.25
pineal_day5.14
pineal_night5.02
retina5.025
small_intestine4.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P161762
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala4.41 ± 0.63
Basal Forebrain4.89 ± 0.58
Basal Part of Pons4.13 ± 0.61
Cerebellar Cortex3.74 ± 0.56
Cerebellar Nuclei5.2 ± 0.44
Claustrum4.73 ± 0.67
Epithalamus4.74 ± 0.49
Frontal Lobe4.41 ± 0.66
Globus Pallidus5.84 ± 0.43
Hypothalamus4.65 ± 0.38
Insula4.24 ± 0.62
Limbic Lobe4.53 ± 1.03
Mesencephalon4.85 ± 0.52
Myelencephalon4.56 ± 0.79
Occipital Lobe5.14 ± 0.95
Parietal Lobe4.65 ± 0.64
Pontine Tegmentum4.52 ± 0.75
Striatum4.6 ± 0.62
Subthalamus4.9 ± 0.2
Temporal Lobe4.28 ± 0.69
Thalamus4.81 ± 0.68
White Matter6.13 ± 0.71
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Runx2CBCerebellum0.6
0.98
Runx2CTXCerebral cortex0.47
0.34
Runx2HIPHippocampal region6.76
3.45
Runx2HPFHippocampal formation4.33
2.12
Runx2HYHypothalamus0.13
0.14
Runx2LSXLateral septal complex0.12
0.08
Runx2MBMidbrain0.35
0.48
Runx2MYMedulla0.13
0.21
Runx2OLFOlfactory bulb0.45
0.29
Runx2PPons0.2
0.2
Runx2PALPallidum0.07
0.05
Runx2RHPRetrohippocampal region0.99
0.58
Runx2sAMYStriatum-like amygdalar nuclei0.09
0.11
Runx2STRStriatum0.12
0.09
Runx2STRdStriatum dorsal region0.12
0.1
Runx2STRvStriatum ventral region0.11
0.06
Runx2THThalamus0.16
0.18
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
RUNX2_HUMAN_80 14 80 93 AAAAAAAAAAVPRL PRIDE

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