AutismKB 2.0

Annotation Detail for KDELR2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KDELR2 ( ELP-1,ERD2.2,FLJ45532 )
Gene Full Name: KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2
Band: 7p22.1
Quick LinksEntrez ID:11014; OMIM: 609024; Uniprot ID:ERD22_HUMAN; ENSEMBL ID: ENSG00000136240; HGNC ID: 6305
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 body30 / 70761423
blastocyst4 / 6231964
fetus110 / 564012195
neonate13 / 31097418
infant4 / 23620169
juvenile13 / 55556233
adult483 / 1939121249
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma2 / 17475114
breast (mammary gland) tumor17 / 94178180
cervical tumor11 / 34366320
chondrosarcoma28 / 82823338
colorectal tumor33 / 114246288
esophageal tumor3 / 17290173
gastrointestinal tumor40 / 119369335
germ cell tumor98 / 263845371
glioma22 / 106883205
head and neck tumor35 / 136302256
kidney tumor16 / 68959232
leukemia5 / 9584252
liver tumor24 / 96359249
lung tumor19 / 103127184
lymphoma9 / 71755125
non-neoplasia16 / 97250164
normal695 / 3360307206
ovarian tumor12 / 76682156
pancreatic tumor18 / 104616172
primitive neuroectodermal tumor of the CNS28 / 125680222
prostate cancer28 / 102680272
retinoblastoma8 / 46356172
skin tumor16 / 124949128
soft tissue/muscle tissue tumor17 / 125191135
uterine tumor24 / 90257265
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland9 / 33197271
ascites12 / 40015299
bladder5 / 29757168
blood6 / 12347848
bone23 / 71655320
bone marrow5 / 48801102
brain160 / 1100989145
cervix13 / 48171269
connective tissue44 / 149255294
ear4 / 16212246
embryonic tissue49 / 215722227
esophagus3 / 20209148
eye33 / 211054156
heart25 / 89626278
intestine74 / 234472315
kidney43 / 211777203
larynx3 / 24145124
liver40 / 207743192
lung56 / 336974166
lymph1 / 4427022
lymph node6 / 9161065
mammary gland39 / 153271254
mouth18 / 67052268
muscle6 / 10771555
nerve4 / 15768253
ovary13 / 102051127
pancreas33 / 214812153
parathyroid0 / 205390 
pharynx6 / 41328145
pituitary gland2 / 16585120
placenta94 / 280825334
prostate50 / 189345264
salivary gland1 / 2015549
skin72 / 210574341
spleen9 / 53952166
stomach39 / 96619403
testis72 / 330442217
thymus4 / 8113149
thyroid13 / 47473273
tonsil0 / 169990 
trachea12 / 52413228
umbilical cord3 / 13680219
uterus52 / 232878223
vascular24 / 51780463
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200700_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts864.15
Adipocyte758.25
AdrenalCortex111.75
Adrenalgland201.2
Amygdala79.55
Appendix24.35
AtrioventricularNode43.75
BDCA4+_DentriticCells709.9
Bonemarrow250.45
BronchialEpithelialCells1082.35
CD105+_Endothelial297.85
CD14+_Monocytes319
CD19+_BCells(neg._sel.)321.65
CD33+_Myeloid312.75
CD34+350.25
CD4+_Tcells132.6
CD56+_NKCells516.55
CD71+_EarlyErythroid132.25
CD8+_Tcells83.3
CardiacMyocytes929.15
Caudatenucleus18.4
Cerebellum51.6
CerebellumPeduncles58.65
CiliaryGanglion49.2
CingulateCortex33
Colorectaladenocarcinoma822.8
DorsalRootGanglion24.4
FetalThyroid164.25
Fetalbrain38.95
Fetalliver473.75
Fetallung316.85
GlobusPallidus19.35
Heart281.3
Hypothalamus53.3
Kidney171.6
Leukemia_chronicMyelogenousK-562997.5
Leukemia_promyelocytic-HL-60270.95
Leukemialymphoblastic(MOLT-4)99.35
Liver878.85
Lung758.75
Lymphnode202.85
Lymphoma_burkitts(Daudi)290.05
Lymphoma_burkitts(Raji)814.35
MedullaOblongata30.65
OccipitalLobe41.55
OlfactoryBulb83.4
Ovary195
Pancreas353.7
PancreaticIslet544.55
ParietalLobe33.1
Pituitary332.25
Placenta1259.45
Pons22.05
PrefrontalCortex39.35
Prostate1103.4
Salivarygland258.6
SkeletalMuscle32.6
Skin48.8
SmoothMuscle1654.35
Spinalcord68.65
SubthalamicNucleus44.75
SuperiorCervicalGanglion21.75
TemporalLobe20.8
Testis1615.25
TestisGermCell698.35
TestisIntersitial1210.4
TestisLeydigCell551.3
TestisSeminiferousTubule403.9
Thalamus22.65
Thymus178.1
Thyroid348.2
Tongue72.55
Tonsil199.65
Trachea489.95
TrigeminalGanglion55.25
Uterus232.15
UterusCorpus133.4
WholeBlood197.45
Wholebrain75.15
colon1644
pineal_day104.12
pineal_night95.1
retina346.15
small_intestine1427.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P42517
  • 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
Amygdala6.39 ± 0.3
Basal Forebrain6.22 ± 0.42
Basal Part of Pons6.44 ± 0.36
Cerebellar Cortex6.37 ± 0.32
Cerebellar Nuclei6.89 ± 0.39
Claustrum6.12 ± 0.46
Epithalamus6.78 ± 0.38
Frontal Lobe6.49 ± 0.35
Globus Pallidus6.94 ± 0.21
Hypothalamus6.69 ± 0.35
Insula6.3 ± 0.35
Limbic Lobe6.52 ± 0.47
Mesencephalon6.56 ± 0.36
Myelencephalon6.51 ± 0.41
Occipital Lobe6.64 ± 0.23
Parietal Lobe6.41 ± 0.47
Pontine Tegmentum6.51 ± 0.39
Striatum6.41 ± 0.37
Subthalamus6.69 ± 0.2
Temporal Lobe6.43 ± 0.38
Thalamus6.71 ± 0.32
White Matter7.28 ± 0.22
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00413260 17 6 22 LTGDLSHLAAIVILLLK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved