AutismKB 2.0

Annotation Detail for PDIA2


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Basic Information Top
Gene Symbol:PDIA2 ( PDA2,PDI,PDIP,PDIR )
Gene Full Name: protein disulfide isomerase family A, member 2
Band: 16p13.3
Quick LinksEntrez ID:64714; OMIM: 608012; Uniprot ID:PDIA2_HUMAN; ENSEMBL ID: ENSG00000185615; HGNC ID: 14180
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 body0 / 707610 
blastocyst0 / 623190 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult18 / 19391219
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal50 / 336030714
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 
bladder3 / 29757100
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain36 / 110098932
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas15 / 21481269
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach3 / 9661931
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206691_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.05
Adipocyte4.05
AdrenalCortex4.35
Adrenalgland3.5
Amygdala4.4
Appendix4.1
AtrioventricularNode3.15
BDCA4+_DentriticCells4.6
Bonemarrow4.05
BronchialEpithelialCells4
CD105+_Endothelial4.15
CD14+_Monocytes4.4
CD19+_BCells(neg._sel.)4.35
CD33+_Myeloid5.25
CD34+5.2
CD4+_Tcells4.45
CD56+_NKCells4.85
CD71+_EarlyErythroid3.8
CD8+_Tcells3.9
CardiacMyocytes5.5
Caudatenucleus3.7
Cerebellum3.35
CerebellumPeduncles4.65
CiliaryGanglion2.9
CingulateCortex4.25
Colorectaladenocarcinoma4.1
DorsalRootGanglion3.15
FetalThyroid4
Fetalbrain6.1
Fetalliver3.55
Fetallung3.35
GlobusPallidus3.05
Heart5.4
Hypothalamus4.6
Kidney3.4
Leukemia_chronicMyelogenousK-5623.7
Leukemia_promyelocytic-HL-603.65
Leukemialymphoblastic(MOLT-4)3.25
Liver5.45
Lung4.55
Lymphnode3.5
Lymphoma_burkitts(Daudi)5.25
Lymphoma_burkitts(Raji)5.8
MedullaOblongata3.75
OccipitalLobe3.7
OlfactoryBulb3.25
Ovary2.7
Pancreas771.75
PancreaticIslet167.45
ParietalLobe4.4
Pituitary4.75
Placenta4.15
Pons3.9
PrefrontalCortex5.85
Prostate4.8
Salivarygland3.3
SkeletalMuscle4.8
Skin3.2
SmoothMuscle4.65
Spinalcord4.4
SubthalamicNucleus3.75
SuperiorCervicalGanglion4.65
TemporalLobe3.75
Testis3.5
TestisGermCell3.4
TestisIntersitial3.45
TestisLeydigCell4.05
TestisSeminiferousTubule3.5
Thalamus4.2
Thymus3.2
Thyroid5.05
Tongue4.05
Tonsil3.95
Trachea3.4
TrigeminalGanglion4.1
Uterus3.35
UterusCorpus3.7
WholeBlood4.45
Wholebrain3.55
colon4.15
pineal_day5.16
pineal_night5.3
retina4.975
small_intestine4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16850_PI416261804
  • 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
Amygdala7 ± 0.36
Basal Forebrain7.1 ± 0.36
Basal Part of Pons7.53 ± 0.54
Cerebellar Cortex7.82 ± 0.35
Cerebellar Nuclei7.55 ± 0.47
Claustrum7.34 ± 0.64
Epithalamus6.01 ± 0.88
Frontal Lobe7.09 ± 0.68
Globus Pallidus7.65 ± 0.57
Hypothalamus7.12 ± 0.55
Insula7.09 ± 0.55
Limbic Lobe7.13 ± 0.82
Mesencephalon7.08 ± 0.76
Myelencephalon7.09 ± 0.66
Occipital Lobe7.4 ± 0.49
Parietal Lobe7.2 ± 0.46
Pontine Tegmentum7.08 ± 0.5
Striatum5.86 ± 0.52
Subthalamus7.32 ± 0.18
Temporal Lobe7.19 ± 0.41
Thalamus7.07 ± 0.38
White Matter9.43 ± 0.54
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pdia2CBCerebellum1.1
1.75
Pdia2CTXCerebral cortex1.05
1.16
Pdia2HIPHippocampal region0.87
1.13
Pdia2HPFHippocampal formation0.94
1.06
Pdia2HYHypothalamus0.79
2.24
Pdia2LSXLateral septal complex0.56
0.64
Pdia2MBMidbrain0.53
0.88
Pdia2MYMedulla0.74
0.97
Pdia2OLFOlfactory bulb1.69
2.48
Pdia2PPons0.68
0.67
Pdia2PALPallidum0.53
0.53
Pdia2RHPRetrohippocampal region1.04
0.97
Pdia2sAMYStriatum-like amygdalar nuclei0.53
0.6
Pdia2STRStriatum0.83
0.87
Pdia2STRdStriatum dorsal region0.87
0.91
Pdia2STRvStriatum ventral region0.84
0.79
Pdia2THThalamus0.63
0.67
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