AutismKB 2.0

Annotation Detail for HSD17B2


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Basic Information Top
Gene Symbol:HSD17B2 ( EDH17B2,HSD17,SDR9C2 )
Gene Full Name: hydroxysteroid (17-beta) dehydrogenase 2
Band: 16q23.3
Quick LinksEntrez ID:3294; OMIM: 109685; Uniprot ID:DHB2_HUMAN; ENSEMBL ID: ENSG00000086696; HGNC ID: 5211
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 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult131 / 193912167
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia6 / 9584262
liver tumor15 / 96359155
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal92 / 336030727
ovarian tumor11 / 76682143
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
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 tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder3 / 29757100
blood0 / 1234780 
bone2 / 7165527
bone marrow5 / 48801102
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye10 / 21105447
heart1 / 8962611
intestine30 / 234472127
kidney2 / 2117779
larynx1 / 2414541
liver27 / 207743129
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary11 / 102051107
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta80 / 280825284
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach5 / 9661951
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: 204818_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.2
Adipocyte3.3
AdrenalCortex3.5
Adrenalgland2.8
Amygdala3.5
Appendix3.45
AtrioventricularNode2.5
BDCA4+_DentriticCells3.7
Bonemarrow3.25
BronchialEpithelialCells3.45
CD105+_Endothelial3.35
CD14+_Monocytes3.55
CD19+_BCells(neg._sel.)3.6
CD33+_Myeloid4.3
CD34+4.25
CD4+_Tcells3.6
CD56+_NKCells3.95
CD71+_EarlyErythroid3.1
CD8+_Tcells3.2
CardiacMyocytes4.25
Caudatenucleus2.95
Cerebellum2.7
CerebellumPeduncles3.8
CiliaryGanglion2.35
CingulateCortex3.4
Colorectaladenocarcinoma3.3
DorsalRootGanglion2.5
FetalThyroid3.25
Fetalbrain3.3
Fetalliver146.4
Fetallung3.9
GlobusPallidus2.45
Heart4.35
Hypothalamus3.6
Kidney2.7
Leukemia_chronicMyelogenousK-5623
Leukemia_promyelocytic-HL-602.9
Leukemialymphoblastic(MOLT-4)2.7
Liver161.15
Lung3.65
Lymphnode2.85
Lymphoma_burkitts(Daudi)4.2
Lymphoma_burkitts(Raji)4.65
MedullaOblongata3.05
OccipitalLobe3
OlfactoryBulb2.6
Ovary2.2
Pancreas3
PancreaticIslet18.6
ParietalLobe3.5
Pituitary3.9
Placenta969.6
Pons3.15
PrefrontalCortex4.15
Prostate3.9
Salivarygland2.7
SkeletalMuscle3.8
Skin2.65
SmoothMuscle3.8
Spinalcord3.55
SubthalamicNucleus3.05
SuperiorCervicalGanglion3.9
TemporalLobe3
Testis2.85
TestisGermCell2.8
TestisIntersitial2.8
TestisLeydigCell3.25
TestisSeminiferousTubule2.8
Thalamus3.35
Thymus2.6
Thyroid4.15
Tongue3.25
Tonsil3.25
Trachea2.8
TrigeminalGanglion3.35
Uterus2.7
UterusCorpus3
WholeBlood3.65
Wholebrain2.85
colon3.65
pineal_day4.16
pineal_night4.1
retina112.675
small_intestine164.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12190_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
Amygdala2.09 ± 1.01
Basal Forebrain1.59 ± 0.19
Basal Part of Pons1.35 ± 0.37
Cerebellar Cortex1.43 ± 0.68
Cerebellar Nuclei1.91 ± 0.74
Claustrum2.38 ± 0.75
Epithalamus1.31 ± 0.69
Frontal Lobe1.48 ± 0.7
Globus Pallidus2.23 ± 0.39
Hypothalamus1.77 ± 0.54
Insula1.66 ± 0.86
Limbic Lobe1.6 ± 0.59
Mesencephalon1.75 ± 0.67
Myelencephalon1.61 ± 0.64
Occipital Lobe1.63 ± 0.54
Parietal Lobe1.63 ± 0.69
Pontine Tegmentum1.66 ± 0.67
Striatum1.79 ± 0.5
Subthalamus1.99 ± 0.97
Temporal Lobe1.49 ± 0.58
Thalamus1.56 ± 0.56
White Matter2.23 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hsd17b2CBCerebellum1.67
3.54
Hsd17b2CTXCerebral cortex0.89
1.08
Hsd17b2HIPHippocampal region0.8
1.28
Hsd17b2HPFHippocampal formation2.35
2.46
Hsd17b2HYHypothalamus0.73
1.44
Hsd17b2LSXLateral septal complex0.99
1.52
Hsd17b2MBMidbrain0.97
2.52
Hsd17b2MYMedulla2.63
5.48
Hsd17b2OLFOlfactory bulb10.13
9.91
Hsd17b2PPons8.49
15.04
Hsd17b2PALPallidum1.91
3.7
Hsd17b2RHPRetrohippocampal region5.12
4.28
Hsd17b2sAMYStriatum-like amygdalar nuclei0.19
2.15
Hsd17b2STRStriatum0.47
1.11
Hsd17b2STRdStriatum dorsal region0.09
0.29
Hsd17b2STRvStriatum ventral region2.19
3.55
Hsd17b2THThalamus0.09
0.15
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000785 17 84 100 AVLVTGGDCGLGHALCK 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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