AutismKB 2.0

Annotation Detail for P4HA2


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Basic Information Top
Gene Symbol:P4HA2 ( - )
Gene Full Name: prolyl 4-hydroxylase, alpha polypeptide II
Band: 5q31.1
Quick LinksEntrez ID:8974; OMIM: 600608; Uniprot ID:P4HA2_HUMAN; ENSEMBL ID: ENSG00000072682; HGNC ID: 8547
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 body12 / 70761169
blastocyst0 / 623190 
fetus30 / 56401253
neonate9 / 31097289
infant0 / 236200 
juvenile7 / 55556125
adult129 / 193912166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma12 / 82823144
colorectal tumor8 / 11424670
esophageal tumor4 / 17290231
gastrointestinal tumor2 / 11936916
germ cell tumor10 / 26384537
glioma11 / 106883102
head and neck tumor5 / 13630236
kidney tumor10 / 68959145
leukemia3 / 9584231
liver tumor6 / 9635962
lung tumor8 / 10312777
lymphoma0 / 717550 
non-neoplasia17 / 97250174
normal247 / 336030773
ovarian tumor14 / 76682182
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites2 / 4001549
bladder1 / 2975733
blood0 / 1234780 
bone10 / 71655139
bone marrow0 / 488010 
brain37 / 110098933
cervix6 / 48171124
connective tissue29 / 149255194
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus4 / 20209197
eye6 / 21105428
heart16 / 89626178
intestine24 / 234472102
kidney27 / 211777127
larynx0 / 241450 
liver8 / 20774338
lung26 / 33697477
lymph0 / 442700 
lymph node3 / 9161032
mammary gland9 / 15327158
mouth2 / 6705229
muscle18 / 107715167
nerve3 / 15768190
ovary19 / 102051186
pancreas8 / 21481237
parathyroid3 / 20539146
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta19 / 28082567
prostate9 / 18934547
salivary gland1 / 2015549
skin21 / 21057499
spleen3 / 5395255
stomach3 / 9661931
testis17 / 33044251
thymus6 / 8113173
thyroid3 / 4747363
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord7 / 13680511
uterus19 / 23287881
vascular20 / 51780386
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202733_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.8
Adipocyte70.95
AdrenalCortex4.35
Adrenalgland4
Amygdala4.65
Appendix4.25
AtrioventricularNode3.15
BDCA4+_DentriticCells4.6
Bonemarrow4.05
BronchialEpithelialCells221.65
CD105+_Endothelial4.3
CD14+_Monocytes4.45
CD19+_BCells(neg._sel.)4.15
CD33+_Myeloid5.4
CD34+5.4
CD4+_Tcells4.5
CD56+_NKCells4.9
CD71+_EarlyErythroid3.9
CD8+_Tcells3.85
CardiacMyocytes374.1
Caudatenucleus3.7
Cerebellum3.35
CerebellumPeduncles4.7
CiliaryGanglion3.35
CingulateCortex4.2
Colorectaladenocarcinoma90.75
DorsalRootGanglion5.15
FetalThyroid7.15
Fetalbrain4.15
Fetalliver3.45
Fetallung32.8
GlobusPallidus3.05
Heart28.55
Hypothalamus4.85
Kidney58.05
Leukemia_chronicMyelogenousK-56230.1
Leukemia_promyelocytic-HL-603.7
Leukemialymphoblastic(MOLT-4)3.35
Liver5.5
Lung123.45
Lymphnode3.6
Lymphoma_burkitts(Daudi)5.25
Lymphoma_burkitts(Raji)5.8
MedullaOblongata3.85
OccipitalLobe3.7
OlfactoryBulb8.1
Ovary2.75
Pancreas71.95
PancreaticIslet98.95
ParietalLobe4.4
Pituitary55.7
Placenta61.7
Pons3.95
PrefrontalCortex6.8
Prostate8.45
Salivarygland7.6
SkeletalMuscle4.75
Skin6
SmoothMuscle719.95
Spinalcord4.45
SubthalamicNucleus3.8
SuperiorCervicalGanglion4.7
TemporalLobe3.8
Testis4.65
TestisGermCell7.05
TestisIntersitial3.5
TestisLeydigCell6.6
TestisSeminiferousTubule3.65
Thalamus4.25
Thymus3.5
Thyroid5.4
Tongue4.7
Tonsil4.05
Trachea5.5
TrigeminalGanglion4.35
Uterus50.8
UterusCorpus5.7
WholeBlood4.5
Wholebrain3.6
colon79.45
pineal_day462.28
pineal_night486.98
retina25.85
small_intestine48.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P18966
  • 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
Amygdala5.53 ± 0.48
Basal Forebrain4.68 ± 0.52
Basal Part of Pons4.43 ± 0.52
Cerebellar Cortex4.86 ± 0.48
Cerebellar Nuclei4.83 ± 0.76
Claustrum5.97 ± 0.59
Epithalamus4.96 ± 0.19
Frontal Lobe5.2 ± 0.44
Globus Pallidus4.84 ± 1.18
Hypothalamus5.56 ± 0.54
Insula5.41 ± 0.36
Limbic Lobe5.59 ± 0.43
Mesencephalon5.09 ± 0.63
Myelencephalon5.12 ± 0.7
Occipital Lobe5.2 ± 0.53
Parietal Lobe5.21 ± 0.63
Pontine Tegmentum5.41 ± 0.55
Striatum4.32 ± 0.79
Subthalamus5.04 ± 0.6
Temporal Lobe5.32 ± 0.48
Thalamus4.96 ± 0.49
White Matter4.12 ± 0.82
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
P4ha2CBCerebellum19.49
30.21
P4ha2CTXCerebral cortex15.9
11.7
P4ha2HIPHippocampal region21.2
24.15
P4ha2HPFHippocampal formation23.75
22.79
P4ha2HYHypothalamus15.4
11.93
P4ha2LSXLateral septal complex4.46
3.5
P4ha2MBMidbrain14.76
14.54
P4ha2MYMedulla19.91
23.52
P4ha2OLFOlfactory bulb26.38
20.06
P4ha2PPons18
19.8
P4ha2PALPallidum9.32
8.36
P4ha2RHPRetrohippocampal region30.17
23.48
P4ha2sAMYStriatum-like amygdalar nuclei9.69
7.24
P4ha2STRStriatum4.55
3.49
P4ha2STRdStriatum dorsal region2.8
2.18
P4ha2STRvStriatum ventral region6.96
5.19
P4ha2THThalamus24.95
21.63
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
P4HA2_HUMAN_341 12 341 352 YYDVMSDEEIER PRIDE
PAp00003065 14 522 535 GQEFLRPCGSTEVD 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