AutismKB 2.0

Annotation Detail for GMPR2


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Basic Information Top
Gene Symbol:GMPR2 ( MGC15084,MGC830 )
Gene Full Name: guanosine monophosphate reductase 2
Band: 14q12
Quick LinksEntrez ID:51292; OMIM: 610781; Uniprot ID:GMPR2_HUMAN; ENSEMBL ID: ENSG00000100938; HGNC ID: 4377
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 body6 / 7076184
blastocyst9 / 62319144
fetus70 / 564012124
neonate0 / 310970 
infant0 / 236200 
juvenile16 / 55556287
adult218 / 1939121112
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor8 / 9417884
cervical tumor4 / 34366116
chondrosarcoma12 / 82823144
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor14 / 26384553
glioma4 / 10688337
head and neck tumor13 / 13630295
kidney tumor7 / 68959101
leukemia29 / 95842302
liver tumor6 / 9635962
lung tumor9 / 10312787
lymphoma10 / 71755139
non-neoplasia3 / 9725030
normal257 / 336030776
ovarian tumor6 / 7668278
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS41 / 125680326
prostate cancer29 / 102680282
retinoblastoma5 / 46356107
skin tumor16 / 124949128
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites1 / 4001524
bladder2 / 2975767
blood30 / 123478242
bone9 / 71655125
bone marrow3 / 4880161
brain52 / 110098947
cervix5 / 48171103
connective tissue9 / 14925560
ear1 / 1621261
embryonic tissue20 / 21572292
esophagus0 / 202090 
eye11 / 21105452
heart11 / 89626122
intestine13 / 23447255
kidney16 / 21177775
larynx1 / 2414541
liver8 / 20774338
lung24 / 33697471
lymph7 / 44270158
lymph node11 / 91610120
mammary gland11 / 15327171
mouth7 / 67052104
muscle2 / 10771518
nerve2 / 15768126
ovary7 / 10205168
pancreas20 / 21481293
parathyroid14 / 20539681
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta58 / 280825206
prostate33 / 189345174
salivary gland1 / 2015549
skin31 / 210574147
spleen3 / 5395255
stomach7 / 9661972
testis3 / 3304429
thymus2 / 8113124
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217990_at
Cell line Expression level Expression bar
721_B_lymphoblasts39.75
Adipocyte13.95
AdrenalCortex5
Adrenalgland24
Amygdala7.35
Appendix4.35
AtrioventricularNode2.85
BDCA4+_DentriticCells74.65
Bonemarrow4.9
BronchialEpithelialCells23.4
CD105+_Endothelial4.3
CD14+_Monocytes40.1
CD19+_BCells(neg._sel.)18.9
CD33+_Myeloid42.95
CD34+38
CD4+_Tcells42.15
CD56+_NKCells51.7
CD71+_EarlyErythroid5.15
CD8+_Tcells34.55
CardiacMyocytes4.85
Caudatenucleus16.55
Cerebellum6.05
CerebellumPeduncles5.4
CiliaryGanglion3.05
CingulateCortex11.7
Colorectaladenocarcinoma18.75
DorsalRootGanglion3.65
FetalThyroid23.05
Fetalbrain12.25
Fetalliver5.9
Fetallung16.15
GlobusPallidus6.05
Heart4.85
Hypothalamus41.05
Kidney39.8
Leukemia_chronicMyelogenousK-56223.75
Leukemia_promyelocytic-HL-6013.35
Leukemialymphoblastic(MOLT-4)32.15
Liver5.6
Lung6.45
Lymphnode9
Lymphoma_burkitts(Daudi)35.5
Lymphoma_burkitts(Raji)5.35
MedullaOblongata13
OccipitalLobe15.3
OlfactoryBulb12.7
Ovary2.85
Pancreas9.45
PancreaticIslet19.65
ParietalLobe13.75
Pituitary30.85
Placenta15.55
Pons7.4
PrefrontalCortex25.6
Prostate4.75
Salivarygland5.1
SkeletalMuscle3.9
Skin3.35
SmoothMuscle31.75
Spinalcord16.5
SubthalamicNucleus26.8
SuperiorCervicalGanglion3.3
TemporalLobe16.05
Testis5.55
TestisGermCell4.4
TestisIntersitial3.95
TestisLeydigCell5.35
TestisSeminiferousTubule3.9
Thalamus51.2
Thymus10.2
Thyroid25.85
Tongue4.15
Tonsil9.7
Trachea7.4
TrigeminalGanglion4.5
Uterus3.5
UterusCorpus4.4
WholeBlood94.55
Wholebrain22.95
colon8.8
pineal_day35.88
pineal_night33.8
retina30.9
small_intestine11.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P3169
  • 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
Amygdala4.42 ± 0.55
Basal Forebrain4.38 ± 0.37
Basal Part of Pons4.78 ± 0.28
Cerebellar Cortex4.29 ± 0.43
Cerebellar Nuclei4.59 ± 0.61
Claustrum4.29 ± 0.69
Epithalamus4.62 ± 0.37
Frontal Lobe4.69 ± 0.44
Globus Pallidus4.8 ± 0.35
Hypothalamus4.58 ± 0.43
Insula4.45 ± 0.25
Limbic Lobe4.56 ± 0.37
Mesencephalon4.59 ± 0.51
Myelencephalon4.56 ± 0.5
Occipital Lobe4.47 ± 0.41
Parietal Lobe4.66 ± 0.4
Pontine Tegmentum4.53 ± 0.36
Striatum4.46 ± 0.42
Subthalamus4.57 ± 0.48
Temporal Lobe4.61 ± 0.37
Thalamus4.66 ± 0.44
White Matter4.47 ± 0.43
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GMPR2_HUMAN_2 17 2 18 PHIDNDVKLDFKDVLLR PRIDE
GMPR2_HUMAN_213 17 213 229 GHIISDGGCSCPGDVAK PRIDE
GMPR2_HUMAN_231 28 231 258 AFGAGADFVMLGGMLAGHSESGGELIER PRIDE
PAp00011567 10 314 323 STCTYVGAAK 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


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