AutismKB 2.0

Annotation Detail for AKR1C2


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Basic Information Top
Gene Symbol:AKR1C2 ( AKR1C-pseudo,BABP,DD,DD2,DDH2,FLJ53800,HAKRD,HBAB,MCDR2 )
Gene Full Name: aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)
Band: 10p15.1
Quick LinksEntrez ID:1646; OMIM: 600450; Uniprot ID:AK1C2_HUMAN; ENSEMBL ID: ENSG00000151632; HGNC ID: 385
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 
fetus27 / 56401247
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult127 / 193912165
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma7 / 17475400
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma10 / 82823120
colorectal tumor1 / 1142468
esophageal tumor19 / 172901098
gastrointestinal tumor7 / 11936958
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor77 / 136302564
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor33 / 96359342
lung tumor49 / 103127475
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal81 / 336030724
ovarian tumor4 / 7668252
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites4 / 4001599
bladder8 / 29757268
blood3 / 12347824
bone9 / 71655125
bone marrow0 / 488010 
brain14 / 110098912
cervix1 / 4817120
connective tissue21 / 149255140
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus19 / 20209940
eye8 / 21105437
heart0 / 896260 
intestine2 / 2344728
kidney2 / 2117779
larynx6 / 24145248
liver44 / 207743211
lung82 / 336974243
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth73 / 670521088
muscle9 / 10771583
nerve1 / 1576863
ovary4 / 10205139
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach3 / 9661931
testis4 / 33044212
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea14 / 52413267
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204151_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts24.35
Adipocyte2324.45
AdrenalCortex6.25
Adrenalgland31.6
Amygdala32.1
Appendix15.85
AtrioventricularNode31.15
BDCA4+_DentriticCells7.65
Bonemarrow14.85
BronchialEpithelialCells1512.55
CD105+_Endothelial138.1
CD14+_Monocytes5.5
CD19+_BCells(neg._sel.)7.1
CD33+_Myeloid6.25
CD34+30.25
CD4+_Tcells5.8
CD56+_NKCells5.95
CD71+_EarlyErythroid54.25
CD8+_Tcells4.8
CardiacMyocytes245.85
Caudatenucleus23.35
Cerebellum12.1
CerebellumPeduncles15.15
CiliaryGanglion129.75
CingulateCortex32.45
Colorectaladenocarcinoma5.5
DorsalRootGanglion39.45
FetalThyroid299.95
Fetalbrain171.15
Fetalliver843.6
Fetallung1108.45
GlobusPallidus6.4
Heart51.25
Hypothalamus133.55
Kidney60.3
Leukemia_chronicMyelogenousK-56268.35
Leukemia_promyelocytic-HL-6010.5
Leukemialymphoblastic(MOLT-4)4.1
Liver1354.8
Lung312.95
Lymphnode14.55
Lymphoma_burkitts(Daudi)6.55
Lymphoma_burkitts(Raji)10.95
MedullaOblongata16.8
OccipitalLobe26.2
OlfactoryBulb97.9
Ovary10.25
Pancreas25.15
PancreaticIslet106.55
ParietalLobe17.1
Pituitary24.15
Placenta6.95
Pons27
PrefrontalCortex12.25
Prostate8.45
Salivarygland62.75
SkeletalMuscle31.7
Skin31.15
SmoothMuscle312.85
Spinalcord182.25
SubthalamicNucleus14.65
SuperiorCervicalGanglion23.1
TemporalLobe20.8
Testis52.65
TestisGermCell79.1
TestisIntersitial46.5
TestisLeydigCell28.35
TestisSeminiferousTubule37.5
Thalamus141.8
Thymus62.9
Thyroid54.45
Tongue181.25
Tonsil9.1
Trachea286.25
TrigeminalGanglion55.35
Uterus10.8
UterusCorpus6.65
WholeBlood5.85
Wholebrain40.4
colon72.55
pineal_day27.4
pineal_night12.16
retina76.5
small_intestine155.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7003_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
Amygdala2.41 ± 1.05
Basal Forebrain1.9 ± 0.24
Basal Part of Pons1.8 ± 0.57
Cerebellar Cortex2.07 ± 0.75
Cerebellar Nuclei2.39 ± 0.68
Claustrum2.86 ± 0.9
Epithalamus1.89 ± 0.79
Frontal Lobe2.02 ± 0.81
Globus Pallidus2.6 ± 0.56
Hypothalamus2.31 ± 0.76
Insula2.18 ± 0.83
Limbic Lobe1.98 ± 0.7
Mesencephalon2.25 ± 0.73
Myelencephalon2.16 ± 0.63
Occipital Lobe2.22 ± 0.53
Parietal Lobe2.09 ± 0.72
Pontine Tegmentum2.2 ± 0.8
Striatum2.19 ± 0.71
Subthalamus2.25 ± 0.38
Temporal Lobe1.95 ± 0.66
Thalamus2.28 ± 0.64
White Matter2.5 ± 0.13
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AK1C2_HUMAN_10 22 10 31 LNDGHFMPVLGFGTYAPAEVPK PRIDE
AK1C2_HUMAN_154 18 154 171 CKDAGLAKSIGVSNFNHR PRIDE
AK1C2_HUMAN_162 10 162 171 SIGVSNFNHR PRIDE
AK1C2_HUMAN_171 12 171 182 LLEMILNKPGLK PRIDE
AK1C2_HUMAN_250 8 250 257 TPALIALR PRIDE
AK1C2_HUMAN_279 23 279 301 QNVQVFEFQLTSEEMKAIDGLNR PRIDE
AK1C2_HUMAN_84 17 84 100 LWSNSHRPELVRPALER PRIDE
AK1C2_HUMAN_9 22 9 30 LNDGHFMPVLGFGTYAPAEVPK PRIDE
AK1C2_HUMAN_92 10 92 101 PELVRPALER PRIDE
PAp00006245 17 230 246 PNSPVLLEDPVLCALAK 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