AutismKB 2.0

Annotation Detail for PDZD2


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Basic Information Top
Gene Symbol:PDZD2 ( AIPC,KIAA0300,PAPIN,PDZK3,PIN1 )
Gene Full Name: PDZ domain containing 2
Band: 5p13.3
Quick LinksEntrez ID:23037; OMIM: 610697; Uniprot ID:PDZD2_HUMAN; ENSEMBL ID: ENSG00000133401; HGNC ID: 18486
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
blastocyst0 / 623190 
fetus35 / 56401262
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult119 / 193912161
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor10 / 26384537
glioma6 / 10688356
head and neck tumor24 / 136302176
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal194 / 336030757
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain63 / 110098957
cervix0 / 481710 
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye9 / 21105442
heart2 / 8962622
intestine8 / 23447234
kidney6 / 21177728
larynx3 / 24145124
liver1 / 2077434
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth20 / 67052298
muscle8 / 10771574
nerve3 / 15768190
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta54 / 280825192
prostate2 / 18934510
salivary gland1 / 2015549
skin3 / 21057414
spleen0 / 539520 
stomach1 / 9661910
testis22 / 33044266
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209493_at
Cell line Expression level Expression bar
721_B_lymphoblasts8
Adipocyte7.3
AdrenalCortex9.3
Adrenalgland6.95
Amygdala185.5
Appendix9.15
AtrioventricularNode9.5
BDCA4+_DentriticCells7.05
Bonemarrow8.4
BronchialEpithelialCells7.4
CD105+_Endothelial7.95
CD14+_Monocytes8.55
CD19+_BCells(neg._sel.)7.95
CD33+_Myeloid9.8
CD34+9.25
CD4+_Tcells7.45
CD56+_NKCells8.35
CD71+_EarlyErythroid7.3
CD8+_Tcells6.5
CardiacMyocytes13.45
Caudatenucleus247.65
Cerebellum8.45
CerebellumPeduncles12.35
CiliaryGanglion19.5
CingulateCortex67.1
Colorectaladenocarcinoma8.45
DorsalRootGanglion32.35
FetalThyroid7.6
Fetalbrain154.95
Fetalliver6.8
Fetallung24.55
GlobusPallidus28.3
Heart13.25
Hypothalamus53.6
Kidney8.4
Leukemia_chronicMyelogenousK-5626.7
Leukemia_promyelocytic-HL-606.6
Leukemialymphoblastic(MOLT-4)5.65
Liver11.45
Lung9.1
Lymphnode6.05
Lymphoma_burkitts(Daudi)10.1
Lymphoma_burkitts(Raji)11.9
MedullaOblongata74.2
OccipitalLobe31.05
OlfactoryBulb217.7
Ovary6.05
Pancreas6.35
PancreaticIslet8.25
ParietalLobe21.2
Pituitary9.85
Placenta308.55
Pons21.5
PrefrontalCortex320.95
Prostate8.5
Salivarygland6.65
SkeletalMuscle10.95
Skin8.3
SmoothMuscle8.5
Spinalcord28.9
SubthalamicNucleus48.8
SuperiorCervicalGanglion11.75
TemporalLobe27.8
Testis16.55
TestisGermCell66.3
TestisIntersitial20.4
TestisLeydigCell10.75
TestisSeminiferousTubule18
Thalamus26.9
Thymus5.55
Thyroid9.9
Tongue8.45
Tonsil7.85
Trachea6.6
TrigeminalGanglion11.9
Uterus12.25
UterusCorpus7.65
WholeBlood8.35
Wholebrain106.7
colon8.1
pineal_day59.34
pineal_night32.44
retina53.55
small_intestine7.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9111_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
Amygdala5.6 ± 0.65
Basal Forebrain6 ± 0.52
Basal Part of Pons5.42 ± 0.54
Cerebellar Cortex5.05 ± 0.31
Cerebellar Nuclei5.59 ± 0.51
Claustrum5.75 ± 0.48
Epithalamus4.97 ± 0.73
Frontal Lobe5.44 ± 0.49
Globus Pallidus5.69 ± 0.22
Hypothalamus5.1 ± 0.38
Insula5.63 ± 0.56
Limbic Lobe5.33 ± 0.49
Mesencephalon5.77 ± 0.65
Myelencephalon5.68 ± 0.66
Occipital Lobe5.57 ± 0.75
Parietal Lobe5.77 ± 0.53
Pontine Tegmentum5.68 ± 0.55
Striatum6.95 ± 0.43
Subthalamus5.23 ± 0.44
Temporal Lobe5.88 ± 0.41
Thalamus5.82 ± 0.51
White Matter5.24 ± 0.67
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pdzd2CBCerebellum41.52
50.84
Pdzd2CTXCerebral cortex66.78
57.15
Pdzd2HIPHippocampal region52.15
55.29
Pdzd2HPFHippocampal formation53.65
53.19
Pdzd2HYHypothalamus21.18
19.34
Pdzd2LSXLateral septal complex70.59
50.92
Pdzd2MBMidbrain36.34
35.75
Pdzd2MYMedulla45.58
52.21
Pdzd2OLFOlfactory bulb62.75
55.92
Pdzd2PPons31.15
36.63
Pdzd2PALPallidum34.98
33.18
Pdzd2RHPRetrohippocampal region54.11
50.17
Pdzd2sAMYStriatum-like amygdalar nuclei38.91
28.17
Pdzd2STRStriatum84.51
66.38
Pdzd2STRdStriatum dorsal region83.64
65.26
Pdzd2STRvStriatum ventral region100
76.19
Pdzd2THThalamus38.3
39.73
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01430315 19 2373 2391 SSGSIVSGSLGHPGDAAAR Peptide Atlas
PDZD2_HUMAN_2042 10 2042 2051 RNGMSVAGNR PRIDE
PDZD2_HUMAN_2043 9 2043 2051 NGMSVAGNR 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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