AutismKB 2.0

Annotation Detail for TMED2


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Basic Information Top
Gene Symbol:TMED2 ( FLJ21323,P24A,RNP24 )
Gene Full Name: transmembrane emp24 domain trafficking protein 2
Band: 12q24.31
Quick LinksEntrez ID:10959; OMIM: NA; Uniprot ID:TMED2_HUMAN; ENSEMBL ID: ENSG00000086598; HGNC ID: 16996
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 body15 / 70761211
blastocyst10 / 62319160
fetus43 / 56401276
neonate15 / 31097482
infant8 / 23620338
juvenile25 / 55556449
adult289 / 1939121149
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) tumor22 / 94178233
cervical tumor7 / 34366203
chondrosarcoma26 / 82823313
colorectal tumor15 / 114246131
esophageal tumor11 / 17290636
gastrointestinal tumor26 / 119369217
germ cell tumor50 / 263845189
glioma10 / 10688393
head and neck tumor14 / 136302102
kidney tumor14 / 68959203
leukemia6 / 9584262
liver tumor26 / 96359269
lung tumor16 / 103127155
lymphoma8 / 71755111
non-neoplasia21 / 97250215
normal557 / 3360307165
ovarian tumor19 / 76682247
pancreatic tumor15 / 104616143
primitive neuroectodermal tumor of the CNS25 / 125680198
prostate cancer18 / 102680175
retinoblastoma20 / 46356431
skin tumor28 / 124949224
soft tissue/muscle tissue tumor18 / 125191143
uterine tumor35 / 90257387
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland8 / 33197240
ascites13 / 40015324
bladder18 / 29757604
blood12 / 12347897
bone17 / 71655237
bone marrow4 / 4880181
brain173 / 1100989157
cervix11 / 48171228
connective tissue48 / 149255321
ear0 / 162120 
embryonic tissue37 / 215722171
esophagus12 / 20209593
eye34 / 211054161
heart12 / 89626133
intestine48 / 234472204
kidney48 / 211777226
larynx2 / 2414582
liver42 / 207743202
lung45 / 336974133
lymph3 / 4427067
lymph node3 / 9161032
mammary gland31 / 153271202
mouth5 / 6705274
muscle8 / 10771574
nerve2 / 15768126
ovary24 / 102051235
pancreas58 / 214812270
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland10 / 16585602
placenta41 / 280825145
prostate40 / 189345211
salivary gland4 / 20155198
skin54 / 210574256
spleen4 / 5395274
stomach8 / 9661982
testis42 / 330442127
thymus12 / 81131147
thyroid8 / 47473168
tonsil0 / 169990 
trachea20 / 52413381
umbilical cord5 / 13680365
uterus72 / 232878309
vascular27 / 51780521
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200087_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1482.1
Adipocyte826.7
AdrenalCortex300.6
Adrenalgland550.15
Amygdala394.85
Appendix205.9
AtrioventricularNode79.05
BDCA4+_DentriticCells2110.8
Bonemarrow461.95
BronchialEpithelialCells2452.5
CD105+_Endothelial674.35
CD14+_Monocytes1088.5
CD19+_BCells(neg._sel.)1112.85
CD33+_Myeloid1303
CD34+1589.85
CD4+_Tcells721.55
CD56+_NKCells1642.25
CD71+_EarlyErythroid279.45
CD8+_Tcells720.45
CardiacMyocytes880.05
Caudatenucleus205.2
Cerebellum145.85
CerebellumPeduncles198.8
CiliaryGanglion115.5
CingulateCortex220.8
Colorectaladenocarcinoma457.85
DorsalRootGanglion121.2
FetalThyroid648.85
Fetalbrain314.3
Fetalliver576.95
Fetallung722.9
GlobusPallidus159.5
Heart107.85
Hypothalamus536.65
Kidney297.1
Leukemia_chronicMyelogenousK-562772
Leukemia_promyelocytic-HL-60540.3
Leukemialymphoblastic(MOLT-4)492
Liver400.05
Lung755.7
Lymphnode485.1
Lymphoma_burkitts(Daudi)748.6
Lymphoma_burkitts(Raji)315.9
MedullaOblongata220.35
OccipitalLobe323.75
OlfactoryBulb425.25
Ovary454.5
Pancreas1424.9
PancreaticIslet1408.15
ParietalLobe201.8
Pituitary1128.1
Placenta1491.65
Pons107.8
PrefrontalCortex498.65
Prostate1639.65
Salivarygland1073.85
SkeletalMuscle71.1
Skin165.45
SmoothMuscle1850.4
Spinalcord445.45
SubthalamicNucleus184.35
SuperiorCervicalGanglion110.45
TemporalLobe170.95
Testis487.15
TestisGermCell496.95
TestisIntersitial233
TestisLeydigCell274.9
TestisSeminiferousTubule252.6
Thalamus270.1
Thymus653.05
Thyroid1568.75
Tongue258.85
Tonsil429.3
Trachea1058.9
TrigeminalGanglion73.5
Uterus1025.45
UterusCorpus242.1
WholeBlood945.45
Wholebrain477.95
colon1753.55
pineal_day874.72
pineal_night965.9
retina1351.3
small_intestine2151.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P36448
  • 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
Amygdala9.68 ± 0.29
Basal Forebrain9.78 ± 0.16
Basal Part of Pons9.66 ± 0.15
Cerebellar Cortex9.6 ± 0.26
Cerebellar Nuclei10.09 ± 0.28
Claustrum9.82 ± 0.37
Epithalamus9.9 ± 0.25
Frontal Lobe9.77 ± 0.32
Globus Pallidus9.97 ± 0.23
Hypothalamus10.08 ± 0.25
Insula9.71 ± 0.27
Limbic Lobe9.82 ± 0.36
Mesencephalon9.86 ± 0.32
Myelencephalon9.78 ± 0.29
Occipital Lobe9.98 ± 0.29
Parietal Lobe9.89 ± 0.28
Pontine Tegmentum9.94 ± 0.28
Striatum9.99 ± 0.28
Subthalamus10.14 ± 0.23
Temporal Lobe9.73 ± 0.28
Thalamus9.86 ± 0.23
White Matter10.44 ± 0.24
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003063 28 118 145 GQDMETEAHQNKLEEMINELAVAMTAVK Peptide Atlas
TMED2_HUMAN_0 0 0 0 GQDMETEAHQNKLEEMINELAVAMTAVK PRIDE
TMED2_HUMAN_0 0 0 0 IVMFTIDIGEAPK PRIDE
TMED2_HUMAN_0 0 0 0 YTFAAHMDGTYK PRIDE
TMED2_HUMAN_104 13 104 116 IVMFTIDIGEAPK PRIDE
TMED2_HUMAN_105 13 105 117 IVMFTIDIGEAPK PRIDE
TMED2_HUMAN_117 28 117 144 GQDMETEAHQNKLEEMINELAVAMTAVK PRIDE
TMED2_HUMAN_129 16 129 144 LEEMINELAVAMTAVK PRIDE
TMED2_HUMAN_145 9 145 153 HEQEYMEVR PRIDE
TMED2_HUMAN_146 9 146 154 HEQEYMEVR PRIDE
TMED2_HUMAN_79 12 79 90 YTFAAHMDGTYK 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


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