AutismKB 2.0

Annotation Detail for MTMR2


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Basic Information Top
Gene Symbol:MTMR2 ( CMT4B,CMT4B1,KIAA1073 )
Gene Full Name: myotubularin related protein 2
Band: 11q21
Quick LinksEntrez ID:8898; OMIM: 603557; Uniprot ID:MTMR2_HUMAN; ENSEMBL ID: ENSG00000087053; HGNC ID: 7450
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 body2 / 7076128
blastocyst4 / 6231964
fetus40 / 56401270
neonate6 / 31097192
infant0 / 236200 
juvenile4 / 5555671
adult98 / 193912150
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) tumor8 / 9417884
cervical tumor2 / 3436658
chondrosarcoma4 / 8282348
colorectal tumor6 / 11424652
esophageal tumor2 / 17290115
gastrointestinal tumor8 / 11936967
germ cell tumor33 / 263845125
glioma4 / 10688337
head and neck tumor10 / 13630273
kidney tumor10 / 68959145
leukemia2 / 9584220
liver tumor7 / 9635972
lung tumor6 / 10312758
lymphoma1 / 7175513
non-neoplasia7 / 9725071
normal224 / 336030766
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer5 / 10268048
retinoblastoma2 / 4635643
skin tumor5 / 12494940
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites6 / 40015149
bladder1 / 2975733
blood4 / 12347832
bone1 / 7165513
bone marrow3 / 4880161
brain120 / 1100989108
cervix2 / 4817141
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus2 / 2020998
eye6 / 21105428
heart2 / 8962622
intestine8 / 23447234
kidney15 / 21177770
larynx2 / 2414582
liver9 / 20774343
lung12 / 33697435
lymph1 / 4427022
lymph node7 / 9161076
mammary gland11 / 15327171
mouth9 / 67052134
muscle2 / 10771518
nerve1 / 1576863
ovary3 / 10205129
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland3 / 16585180
placenta20 / 28082571
prostate8 / 18934542
salivary gland0 / 201550 
skin12 / 21057456
spleen3 / 5395255
stomach2 / 9661920
testis68 / 330442205
thymus7 / 8113186
thyroid0 / 474730 
tonsil0 / 169990 
trachea14 / 52413267
umbilical cord0 / 136800 
uterus13 / 23287855
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214649_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.85
Adipocyte9.3
AdrenalCortex13.8
Adrenalgland8.5
Amygdala8.45
Appendix12.65
AtrioventricularNode11.8
BDCA4+_DentriticCells8.45
Bonemarrow10.1
BronchialEpithelialCells9.75
CD105+_Endothelial9.15
CD14+_Monocytes9.75
CD19+_BCells(neg._sel.)9.05
CD33+_Myeloid10.4
CD34+10.45
CD4+_Tcells10.45
CD56+_NKCells9.6
CD71+_EarlyErythroid9.35
CD8+_Tcells8.25
CardiacMyocytes27.1
Caudatenucleus8.4
Cerebellum7.75
CerebellumPeduncles12.3
CiliaryGanglion8.1
CingulateCortex11.45
Colorectaladenocarcinoma8.8
DorsalRootGanglion9.4
FetalThyroid9.9
Fetalbrain8.55
Fetalliver8.2
Fetallung6.7
GlobusPallidus8.2
Heart14.4
Hypothalamus9.6
Kidney9.3
Leukemia_chronicMyelogenousK-5628.25
Leukemia_promyelocytic-HL-608
Leukemialymphoblastic(MOLT-4)10.5
Liver13.4
Lung9.65
Lymphnode7
Lymphoma_burkitts(Daudi)12.45
Lymphoma_burkitts(Raji)14.1
MedullaOblongata7.95
OccipitalLobe12.9
OlfactoryBulb7.15
Ovary7.6
Pancreas7.75
PancreaticIslet10.3
ParietalLobe11.1
Pituitary10.7
Placenta8.45
Pons9.9
PrefrontalCortex9.85
Prostate9.85
Salivarygland8.25
SkeletalMuscle13.4
Skin9.9
SmoothMuscle12.45
Spinalcord9.65
SubthalamicNucleus9
SuperiorCervicalGanglion13.8
TemporalLobe9.15
Testis7.9
TestisGermCell13.25
TestisIntersitial9.3
TestisLeydigCell14.85
TestisSeminiferousTubule8.2
Thalamus10.2
Thymus6.45
Thyroid10
Tongue10.85
Tonsil9.15
Trachea7.45
TrigeminalGanglion14.15
Uterus6.75
UterusCorpus8.7
WholeBlood9.4
Wholebrain6.6
colon9
pineal_day10.88
pineal_night11
retina11.25
small_intestine8.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P64019
  • 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
Amygdala5.9 ± 0.55
Basal Forebrain6.28 ± 0.39
Basal Part of Pons6.81 ± 0.29
Cerebellar Cortex6.21 ± 0.56
Cerebellar Nuclei7.05 ± 0.2
Claustrum6.43 ± 0.36
Epithalamus6.38 ± 0.54
Frontal Lobe6.62 ± 0.36
Globus Pallidus6.64 ± 0.27
Hypothalamus6.07 ± 0.57
Insula6.43 ± 0.27
Limbic Lobe6.23 ± 0.47
Mesencephalon6.34 ± 0.51
Myelencephalon6.38 ± 0.42
Occipital Lobe6.15 ± 0.48
Parietal Lobe6.53 ± 0.39
Pontine Tegmentum6.4 ± 0.4
Striatum6.03 ± 0.48
Subthalamus6.8 ± 0.56
Temporal Lobe6.37 ± 0.32
Thalamus6.5 ± 0.4
White Matter7.75 ± 0.15
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mtmr2CBCerebellum0
0
Mtmr2CTXCerebral cortex0
0
Mtmr2HIPHippocampal region0
0
Mtmr2HPFHippocampal formation0
0
Mtmr2HYHypothalamus0
0
Mtmr2LSXLateral septal complex0
0
Mtmr2MBMidbrain0
0
Mtmr2MYMedulla0
0
Mtmr2OLFOlfactory bulb0
0
Mtmr2PPons0
0
Mtmr2PALPallidum0
0
Mtmr2RHPRetrohippocampal region0
0
Mtmr2sAMYStriatum-like amygdalar nuclei0
0
Mtmr2STRStriatum0
0
Mtmr2STRdStriatum dorsal region0
0
Mtmr2STRvStriatum ventral region0
0
Mtmr2THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00500205 17 195 211 IPVLSWIHPESQATITR 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


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