AutismKB 2.0

Annotation Detail for HSD11B2


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Basic Information Top
Gene Symbol:HSD11B2 ( AME,AME1,HSD11K,HSD2,SDR9C3 )
Gene Full Name: hydroxysteroid (11-beta) dehydrogenase 2
Band: 16q22.1
Quick LinksEntrez ID:3291; OMIM: 218030; Uniprot ID:DHI2_HUMAN; ENSEMBL ID: ENSG00000176387; HGNC ID: 5209
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 
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult120 / 193912161
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor15 / 119369125
germ cell tumor2 / 2638457
glioma3 / 10688328
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal116 / 336030734
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites10 / 40015249
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain8 / 11009897
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine22 / 23447293
kidney13 / 21177761
larynx0 / 241450 
liver1 / 2077434
lung7 / 33697420
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta68 / 280825242
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach6 / 9661962
testis2 / 3304426
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204130_at
Cell line Expression level Expression bar
721_B_lymphoblasts3.6
Adipocyte3.05
AdrenalCortex3.1
Adrenalgland2.55
Amygdala3.15
Appendix3.1
AtrioventricularNode2.8
BDCA4+_DentriticCells3.45
Bonemarrow3
BronchialEpithelialCells3.05
CD105+_Endothelial3.1
CD14+_Monocytes3.3
CD19+_BCells(neg._sel.)3.3
CD33+_Myeloid4
CD34+3.95
CD4+_Tcells3.35
CD56+_NKCells3.7
CD71+_EarlyErythroid2.9
CD8+_Tcells2.85
CardiacMyocytes3.8
Caudatenucleus2.75
Cerebellum2.8
CerebellumPeduncles3.45
CiliaryGanglion2.1
CingulateCortex3.1
Colorectaladenocarcinoma3.1
DorsalRootGanglion2.3
FetalThyroid2.95
Fetalbrain3.1
Fetalliver2.65
Fetallung2.55
GlobusPallidus2.2
Heart3.85
Hypothalamus3.35
Kidney231.65
Leukemia_chronicMyelogenousK-5622.75
Leukemia_promyelocytic-HL-602.7
Leukemialymphoblastic(MOLT-4)2.45
Liver4
Lung3.4
Lymphnode2.7
Lymphoma_burkitts(Daudi)3.9
Lymphoma_burkitts(Raji)4.2
MedullaOblongata2.85
OccipitalLobe2.75
OlfactoryBulb2.35
Ovary2.25
Pancreas2.6
PancreaticIslet3.25
ParietalLobe3.2
Pituitary3.55
Placenta738.15
Pons2.9
PrefrontalCortex3.8
Prostate3.65
Salivarygland34.9
SkeletalMuscle3.5
Skin5.55
SmoothMuscle3.45
Spinalcord3.3
SubthalamicNucleus3.05
SuperiorCervicalGanglion3.4
TemporalLobe2.8
Testis2.7
TestisGermCell2.65
TestisIntersitial2.6
TestisLeydigCell3
TestisSeminiferousTubule2.65
Thalamus3.1
Thymus2.45
Thyroid5.2
Tongue2.95
Tonsil2.95
Trachea2.6
TrigeminalGanglion8.8
Uterus3.55
UterusCorpus2.75
WholeBlood3.3
Wholebrain2.6
colon421.4
pineal_day3.78
pineal_night3.72
retina3.675
small_intestine33.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16342_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
Amygdala3.19 ± 1.16
Basal Forebrain2.87 ± 0.51
Basal Part of Pons3.08 ± 0.53
Cerebellar Cortex2.88 ± 0.77
Cerebellar Nuclei3.38 ± 1.3
Claustrum3.61 ± 1.13
Epithalamus2.56 ± 0.76
Frontal Lobe2.76 ± 0.73
Globus Pallidus2.87 ± 0.74
Hypothalamus2.41 ± 0.64
Insula2.42 ± 0.77
Limbic Lobe2.95 ± 0.83
Mesencephalon2.91 ± 0.8
Myelencephalon2.93 ± 0.82
Occipital Lobe3.05 ± 0.92
Parietal Lobe2.81 ± 0.94
Pontine Tegmentum2.69 ± 0.71
Striatum3.25 ± 0.78
Subthalamus2.79 ± 0.24
Temporal Lobe2.74 ± 0.84
Thalamus2.81 ± 0.7
White Matter2.89 ± 0.54
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hsd11b2CBCerebellum0.86
1.39
Hsd11b2CTXCerebral cortex0.55
0.55
Hsd11b2HIPHippocampal region0.38
0.58
Hsd11b2HPFHippocampal formation0.49
1.14
Hsd11b2HYHypothalamus0.05
0.07
Hsd11b2LSXLateral septal complex0.19
0.2
Hsd11b2MBMidbrain0.45
0.57
Hsd11b2MYMedulla0.99
1.12
Hsd11b2OLFOlfactory bulb1.33
2.6
Hsd11b2PPons0.35
0.51
Hsd11b2PALPallidum0.02
0.01
Hsd11b2RHPRetrohippocampal region0.71
2.04
Hsd11b2sAMYStriatum-like amygdalar nuclei0.09
0.1
Hsd11b2STRStriatum0.62
0.7
Hsd11b2STRdStriatum dorsal region0.95
1.12
Hsd11b2STRvStriatum ventral region0.02
0.03
Hsd11b2THThalamus0.41
0.46
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
DHI2_HUMAN_102 24 102 125 LDSMGFTVLATVLELNSPGAIELR PRIDE
DHI2_HUMAN_134 14 134 147 LLQMDLTKPGDISR PRIDE
DHI2_HUMAN_375 31 375 405 ALQPGQPGTTPPQDAAQDPNLSPGPSPAVAR PRIDE
DHI2_HUMAN_72 6 72 77 LARPQR PRIDE
DHI2_HUMAN_84 13 84 96 AVLITGCDSGFGK PRIDE
PAp00041053 23 214 236 IVTVGSPAGDMPYPCLGAYGTSK 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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