AutismKB 2.0

Annotation Detail for MATN2


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Basic Information Top
Gene Symbol:MATN2 ( - )
Gene Full Name: matrilin 2
Band: 8q22.1-q22.2
Quick LinksEntrez ID:4147; OMIM: 602108; Uniprot ID:MATN2_HUMAN; ENSEMBL ID: ENSG00000132561; HGNC ID: 6908
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
blastocyst1 / 6231916
fetus39 / 56401269
neonate1 / 3109732
infant0 / 236200 
juvenile11 / 55556197
adult166 / 193912185
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor46 / 263845174
glioma6 / 10688356
head and neck tumor4 / 13630229
kidney tumor11 / 68959159
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal265 / 336030778
ovarian tumor5 / 7668265
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland4 / 33197120
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow1 / 4880120
brain93 / 110098984
cervix0 / 481710 
connective tissue1 / 1492556
ear3 / 16212185
embryonic tissue9 / 21572241
esophagus1 / 2020949
eye7 / 21105433
heart15 / 89626167
intestine9 / 23447238
kidney20 / 21177794
larynx0 / 241450 
liver4 / 20774319
lung8 / 33697423
lymph0 / 442700 
lymph node0 / 916100 
mammary gland7 / 15327145
mouth3 / 6705244
muscle2 / 10771518
nerve9 / 15768570
ovary5 / 10205148
pancreas3 / 21481213
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta51 / 280825181
prostate35 / 189345184
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach3 / 9661931
testis83 / 330442251
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea17 / 52413324
umbilical cord0 / 136800 
uterus139 / 232878596
vascular0 / 517800 
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202350_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.35
Adipocyte6.6
AdrenalCortex13.5
Adrenalgland6.5
Amygdala61.9
Appendix121.15
AtrioventricularNode11.7
BDCA4+_DentriticCells5.85
Bonemarrow6.8
BronchialEpithelialCells6.4
CD105+_Endothelial5.95
CD14+_Monocytes6.4
CD19+_BCells(neg._sel.)6.2
CD33+_Myeloid7.2
CD34+7
CD4+_Tcells5.95
CD56+_NKCells7.35
CD71+_EarlyErythroid5.55
CD8+_Tcells5.4
CardiacMyocytes9.35
Caudatenucleus6.1
Cerebellum5.3
CerebellumPeduncles9.15
CiliaryGanglion54.95
CingulateCortex7.5
Colorectaladenocarcinoma6.2
DorsalRootGanglion90.05
FetalThyroid44.55
Fetalbrain6.85
Fetalliver9.15
Fetallung17.45
GlobusPallidus5.55
Heart10.85
Hypothalamus25.7
Kidney6.2
Leukemia_chronicMyelogenousK-5625.85
Leukemia_promyelocytic-HL-606.05
Leukemialymphoblastic(MOLT-4)4.7
Liver10.6
Lung7.4
Lymphnode31.4
Lymphoma_burkitts(Daudi)7.95
Lymphoma_burkitts(Raji)9.85
MedullaOblongata6.05
OccipitalLobe6.35
OlfactoryBulb141.45
Ovary30.35
Pancreas5.25
PancreaticIslet8.25
ParietalLobe7.75
Pituitary8.7
Placenta65.9
Pons6.35
PrefrontalCortex8
Prostate32.1
Salivarygland10.95
SkeletalMuscle9.9
Skin23.15
SmoothMuscle7.6
Spinalcord59.75
SubthalamicNucleus6.8
SuperiorCervicalGanglion25.4
TemporalLobe6.25
Testis9.75
TestisGermCell86.4
TestisIntersitial27
TestisLeydigCell20.1
TestisSeminiferousTubule31.6
Thalamus7.15
Thymus6.2
Thyroid1893
Tongue10.8
Tonsil7.1
Trachea23.15
TrigeminalGanglion38
Uterus671.7
UterusCorpus94.45
WholeBlood6.75
Wholebrain6.15
colon71.7
pineal_day1362.18
pineal_night1408.2
retina15.5
small_intestine188.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P179225
  • 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
Amygdala4.43 ± 0.71
Basal Forebrain3.6 ± 0.65
Basal Part of Pons3.24 ± 0.58
Cerebellar Cortex3.78 ± 0.41
Cerebellar Nuclei3.47 ± 0.62
Claustrum3.48 ± 0.74
Epithalamus4.98 ± 0.57
Frontal Lobe3.27 ± 0.73
Globus Pallidus4.65 ± 0.5
Hypothalamus3.58 ± 0.69
Insula3.66 ± 0.59
Limbic Lobe3.56 ± 0.74
Mesencephalon3.79 ± 0.49
Myelencephalon3.53 ± 0.74
Occipital Lobe3.96 ± 0.76
Parietal Lobe3.32 ± 0.72
Pontine Tegmentum3.78 ± 0.74
Striatum3.4 ± 0.83
Subthalamus3.29 ± 0.37
Temporal Lobe3.71 ± 0.66
Thalamus3.62 ± 0.6
White Matter4.49 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Matn2CBCerebellum1.85
3.7
Matn2CTXCerebral cortex17.16
14.84
Matn2HIPHippocampal region40.94
67.82
Matn2HPFHippocampal formation32.4
46.41
Matn2HYHypothalamus1.4
1.63
Matn2LSXLateral septal complex48.15
59.76
Matn2MBMidbrain0.82
1.18
Matn2MYMedulla2.21
3.42
Matn2OLFOlfactory bulb24.58
23.63
Matn2PPons0.94
0.99
Matn2PALPallidum1.89
1.94
Matn2RHPRetrohippocampal region18.89
18.27
Matn2sAMYStriatum-like amygdalar nuclei5.86
5.07
Matn2STRStriatum6.94
7.13
Matn2STRdStriatum dorsal region2.85
2.63
Matn2STRvStriatum ventral region4.58
3.6
Matn2THThalamus1.09
1.48
Peptide Top

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