AutismKB 2.0

Annotation Detail for SLC9A3R2


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Basic Information Top
Gene Symbol:SLC9A3R2 ( E3KARP,MGC104639,NHE3RF2,NHERF-2,NHERF2,OCTS2,SIP-1,SIP1,TKA-1 )
Gene Full Name: solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2
Band: 16p13.3
Quick LinksEntrez ID:9351; OMIM: 606553; Uniprot ID:NHRF2_HUMAN; ENSEMBL ID: ENSG00000065054; HGNC ID: 11076
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 body1 / 7076114
blastocyst2 / 6231932
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult126 / 193912164
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor18 / 119369150
germ cell tumor1 / 2638453
glioma3 / 10688328
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor3 / 9635931
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal69 / 336030720
ovarian tumor4 / 7668252
pancreatic tumor21 / 104616200
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer27 / 102680262
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites18 / 40015449
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain31 / 110098928
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine11 / 23447246
kidney3 / 21177714
larynx1 / 2414541
liver9 / 20774343
lung9 / 33697426
lymph0 / 442700 
lymph node0 / 916100 
mammary gland10 / 15327165
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary4 / 10205139
pancreas22 / 214812102
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate27 / 189345142
salivary gland2 / 2015599
skin5 / 21057423
spleen4 / 5395274
stomach0 / 966190 
testis3 / 3304429
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209830_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.3
Adipocyte9.6
AdrenalCortex13.6
Adrenalgland8.55
Amygdala9.85
Appendix10.45
AtrioventricularNode12.05
BDCA4+_DentriticCells9.2
Bonemarrow10.6
BronchialEpithelialCells8.3
CD105+_Endothelial10.2
CD14+_Monocytes10.2
CD19+_BCells(neg._sel.)9.45
CD33+_Myeloid12.7
CD34+12.25
CD4+_Tcells10.45
CD56+_NKCells10.35
CD71+_EarlyErythroid9.2
CD8+_Tcells8.75
CardiacMyocytes14.25
Caudatenucleus9.2
Cerebellum7.75
CerebellumPeduncles11.5
CiliaryGanglion8.5
CingulateCortex10.25
Colorectaladenocarcinoma9.25
DorsalRootGanglion12.55
FetalThyroid10.85
Fetalbrain9.6
Fetalliver8.3
Fetallung7.7
GlobusPallidus8.1
Heart14.2
Hypothalamus10.45
Kidney8.05
Leukemia_chronicMyelogenousK-5628.7
Leukemia_promyelocytic-HL-608.3
Leukemialymphoblastic(MOLT-4)7.25
Liver17.25
Lung14.5
Lymphnode8.4
Lymphoma_burkitts(Daudi)12.5
Lymphoma_burkitts(Raji)13.85
MedullaOblongata8.4
OccipitalLobe8.4
OlfactoryBulb7.5
Ovary6.75
Pancreas8.45
PancreaticIslet10.3
ParietalLobe10.45
Pituitary11.25
Placenta9.75
Pons9.25
PrefrontalCortex12
Prostate11.5
Salivarygland8.65
SkeletalMuscle17.65
Skin10.45
SmoothMuscle10.95
Spinalcord10.3
SubthalamicNucleus12.35
SuperiorCervicalGanglion15.7
TemporalLobe9
Testis7.95
TestisGermCell7.85
TestisIntersitial8.2
TestisLeydigCell10.3
TestisSeminiferousTubule8.35
Thalamus9.95
Thymus6.45
Thyroid12.4
Tongue10.45
Tonsil9.45
Trachea8.1
TrigeminalGanglion10.45
Uterus7.95
UterusCorpus9.3
WholeBlood10.4
Wholebrain7.4
colon9.55
pineal_day11.92
pineal_night11.18
retina11.775
small_intestine9.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P364838
  • 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
Amygdala8.66 ± 0.53
Basal Forebrain8.79 ± 0.41
Basal Part of Pons8.58 ± 0.47
Cerebellar Cortex8.19 ± 0.28
Cerebellar Nuclei9 ± 0.56
Claustrum9.22 ± 0.8
Epithalamus8.02 ± 0.47
Frontal Lobe8.34 ± 0.53
Globus Pallidus9.55 ± 0.38
Hypothalamus8.38 ± 0.3
Insula8.29 ± 0.39
Limbic Lobe8.51 ± 0.63
Mesencephalon8.83 ± 0.43
Myelencephalon8.65 ± 0.55
Occipital Lobe8.9 ± 0.56
Parietal Lobe8.65 ± 0.49
Pontine Tegmentum8.5 ± 0.58
Striatum9.03 ± 0.55
Subthalamus8.96 ± 0.46
Temporal Lobe8.28 ± 0.5
Thalamus8.75 ± 0.52
White Matter8.86 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Slc9a3r2CBCerebellum83.23
100
Slc9a3r2CTXCerebral cortex100
91.63
Slc9a3r2HIPHippocampal region78.79
100
Slc9a3r2HPFHippocampal formation93.67
100
Slc9a3r2HYHypothalamus79.81
75
Slc9a3r2LSXLateral septal complex92.67
75.53
Slc9a3r2MBMidbrain82.15
91.01
Slc9a3r2MYMedulla77.34
100
Slc9a3r2OLFOlfactory bulb100
97.6
Slc9a3r2PPons69.93
83.08
Slc9a3r2PALPallidum71.76
74.94
Slc9a3r2RHPRetrohippocampal region100
100
Slc9a3r2sAMYStriatum-like amygdalar nuclei72.6
64.29
Slc9a3r2STRStriatum47.94
40.84
Slc9a3r2STRdStriatum dorsal region39.57
35.15
Slc9a3r2STRvStriatum ventral region48.47
36.68
Slc9a3r2THThalamus94.91
96.98
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011976 34 276 309 VTPTEEHVEGPLPSPVTNGTSPAQLNGGSACSSR 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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