AutismKB 2.0

Annotation Detail for MKL2


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Basic Information Top
Gene Symbol:MKL2 ( DKFZp686J1745,FLJ31823,FLJ45623,MRTF-B,NPD001 )
Gene Full Name: MKL/myocardin-like 2
Band: 16p13.12
Quick LinksEntrez ID:57496; OMIM: 609463; Uniprot ID:MKL2_HUMAN; ENSEMBL ID: ENSG00000186260; HGNC ID: 29819
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 body1 / 7076114
blastocyst3 / 6231948
fetus24 / 56401242
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult87 / 193912144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor5 / 26384518
glioma4 / 10688337
head and neck tumor9 / 13630266
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia8 / 9725082
normal191 / 336030756
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder2 / 2975767
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain92 / 110098983
cervix2 / 4817141
connective tissue3 / 14925520
ear4 / 16212246
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye10 / 21105447
heart3 / 8962633
intestine6 / 23447225
kidney8 / 21177737
larynx4 / 24145165
liver5 / 20774324
lung9 / 33697426
lymph0 / 442700 
lymph node2 / 9161021
mammary gland11 / 15327171
mouth4 / 6705259
muscle5 / 10771546
nerve1 / 1576863
ovary3 / 10205129
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta7 / 28082524
prostate8 / 18934542
salivary gland3 / 20155148
skin4 / 21057418
spleen1 / 5395218
stomach2 / 9661920
testis16 / 33044248
thymus8 / 8113198
thyroid2 / 4747342
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus15 / 23287864
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218259_at
Cell line Expression level Expression bar
721_B_lymphoblasts21.95
Adipocyte16.15
AdrenalCortex18
Adrenalgland27.65
Amygdala813.55
Appendix17.5
AtrioventricularNode16.4
BDCA4+_DentriticCells18.4
Bonemarrow15.25
BronchialEpithelialCells27.15
CD105+_Endothelial16.75
CD14+_Monocytes14.55
CD19+_BCells(neg._sel.)16.7
CD33+_Myeloid19.3
CD34+56.25
CD4+_Tcells18.6
CD56+_NKCells18.1
CD71+_EarlyErythroid14.45
CD8+_Tcells25.75
CardiacMyocytes22.65
Caudatenucleus202.85
Cerebellum13
CerebellumPeduncles19.15
CiliaryGanglion12.7
CingulateCortex260.4
Colorectaladenocarcinoma15.25
DorsalRootGanglion13.25
FetalThyroid29.05
Fetalbrain161.05
Fetalliver13.4
Fetallung44.65
GlobusPallidus175.2
Heart19.95
Hypothalamus124.25
Kidney13.65
Leukemia_chronicMyelogenousK-56220.9
Leukemia_promyelocytic-HL-6014.8
Leukemialymphoblastic(MOLT-4)41.8
Liver22.2
Lung38.75
Lymphnode56.85
Lymphoma_burkitts(Daudi)20.05
Lymphoma_burkitts(Raji)23.3
MedullaOblongata231.6
OccipitalLobe372.6
OlfactoryBulb13.5
Ovary13.4
Pancreas21.9
PancreaticIslet61.25
ParietalLobe185.9
Pituitary88.75
Placenta131.65
Pons169.7
PrefrontalCortex1698.65
Prostate100.8
Salivarygland29.05
SkeletalMuscle21.45
Skin18.6
SmoothMuscle17.5
Spinalcord19.1
SubthalamicNucleus325.05
SuperiorCervicalGanglion21.95
TemporalLobe224.05
Testis43.5
TestisGermCell94.35
TestisIntersitial16.95
TestisLeydigCell17.95
TestisSeminiferousTubule37.5
Thalamus39.35
Thymus32.75
Thyroid165.15
Tongue17.4
Tonsil20.35
Trachea69.15
TrigeminalGanglion17.9
Uterus152.8
UterusCorpus33.05
WholeBlood17.15
Wholebrain280
colon112.05
pineal_day24.94
pineal_night29.72
retina59.4
small_intestine121.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P54556
  • 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
Amygdala11.4 ± 0.66
Basal Forebrain10.46 ± 0.76
Basal Part of Pons9.59 ± 0.3
Cerebellar Cortex9.62 ± 0.27
Cerebellar Nuclei9.1 ± 0.59
Claustrum11.14 ± 0.42
Epithalamus9.62 ± 0.71
Frontal Lobe10.66 ± 0.58
Globus Pallidus8.5 ± 1.48
Hypothalamus10.34 ± 0.53
Insula11.05 ± 0.5
Limbic Lobe10.91 ± 0.88
Mesencephalon10.03 ± 0.74
Myelencephalon10.29 ± 0.47
Occipital Lobe9.87 ± 1.01
Parietal Lobe10.53 ± 0.6
Pontine Tegmentum10.57 ± 0.72
Striatum10.45 ± 1.14
Subthalamus9.89 ± 0.11
Temporal Lobe10.85 ± 0.44
Thalamus9.86 ± 0.54
White Matter8.24 ± 1.06
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mkl2CBCerebellum100
100
Mkl2CTXCerebral cortex100
100
Mkl2HIPHippocampal region100
100
Mkl2HPFHippocampal formation100
100
Mkl2HYHypothalamus100
100
Mkl2LSXLateral septal complex100
100
Mkl2MBMidbrain100
100
Mkl2MYMedulla100
100
Mkl2OLFOlfactory bulb100
100
Mkl2PPons100
100
Mkl2PALPallidum100
100
Mkl2RHPRetrohippocampal region100
100
Mkl2sAMYStriatum-like amygdalar nuclei100
100
Mkl2STRStriatum100
100
Mkl2STRdStriatum dorsal region100
100
Mkl2STRvStriatum ventral region100
100
Mkl2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MKL2_HUMAN_279 10 279 288 SKKCKDPKPR PRIDE
PAp00096062 21 631 651 HGSLGSSIKDEASLPDCSSSR Peptide Atlas

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