AutismKB 2.0

Annotation Detail for KCNQ2


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Basic Information Top
Gene Symbol:KCNQ2 ( BFNC,EBN,EBN1,ENB1,HNSPC,KCNA11,KV7.2,KVEBN1 )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 2
Band: 20q13.33
Quick LinksEntrez ID:3785; OMIM: 602235; Uniprot ID:KCNQ2_HUMAN; ENSEMBL ID: ENSG00000075043; HGNC ID: 6296
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
blastocyst0 / 623190 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult12 / 19391216
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult16 / 19391218
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor5 / 26384518
glioma10 / 10688393
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal38 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor2 / 2638457
glioma7 / 10688365
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal29 / 33603078
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
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 tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain33 / 110098929
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis18 / 33044254
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain27 / 110098924
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
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: 211486_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.3
Adipocyte3.35
AdrenalCortex3.55
Adrenalgland2.85
Amygdala3.65
Appendix3.35
AtrioventricularNode2.6
BDCA4+_DentriticCells3.8
Bonemarrow3.3
BronchialEpithelialCells3.35
CD105+_Endothelial3.45
CD14+_Monocytes3.6
CD19+_BCells(neg._sel.)3.65
CD33+_Myeloid4.4
CD34+4.35
CD4+_Tcells3.7
CD56+_NKCells4.05
CD71+_EarlyErythroid3.15
CD8+_Tcells3.3
CardiacMyocytes4.3
Caudatenucleus3.05
Cerebellum2.7
CerebellumPeduncles3.85
CiliaryGanglion2.4
CingulateCortex3.45
Colorectaladenocarcinoma3.4
DorsalRootGanglion2.6
FetalThyroid3.3
Fetalbrain3.4
Fetalliver2.95
Fetallung2.85
GlobusPallidus2.5
Heart4.25
Hypothalamus3.7
Kidney2.75
Leukemia_chronicMyelogenousK-5623.05
Leukemia_promyelocytic-HL-603
Leukemialymphoblastic(MOLT-4)2.75
Liver4.45
Lung3.75
Lymphnode2.95
Lymphoma_burkitts(Daudi)4.3
Lymphoma_burkitts(Raji)4.7
MedullaOblongata3.1
OccipitalLobe3.1
OlfactoryBulb2.7
Ovary2.25
Pancreas2.75
PancreaticIslet3.6
ParietalLobe3.55
Pituitary4
Placenta3.5
Pons3.2
PrefrontalCortex4.25
Prostate4
Salivarygland2.7
SkeletalMuscle3.9
Skin2.6
SmoothMuscle3.9
Spinalcord3.65
SubthalamicNucleus3.1
SuperiorCervicalGanglion3.75
TemporalLobe3.15
Testis2.9
TestisGermCell2.85
TestisIntersitial2.8
TestisLeydigCell3.35
TestisSeminiferousTubule2.9
Thalamus3.45
Thymus2.7
Thyroid4.25
Tongue3.3
Tonsil3.3
Trachea2.85
TrigeminalGanglion3.3
Uterus2.8
UterusCorpus3
WholeBlood3.75
Wholebrain2.95
colon3.4
pineal_day4.26
pineal_night4.18
retina4.1
small_intestine3.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_400_PI416408490
  • 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
Amygdala4.75 ± 0.46
Basal Forebrain4.07 ± 0.38
Basal Part of Pons4.53 ± 0.64
Cerebellar Cortex4.59 ± 0.52
Cerebellar Nuclei3.81 ± 0.5
Claustrum4.54 ± 0.64
Epithalamus3.76 ± 0.65
Frontal Lobe4.45 ± 0.52
Globus Pallidus3.27 ± 0.94
Hypothalamus4.31 ± 0.48
Insula4.54 ± 0.19
Limbic Lobe4.78 ± 0.47
Mesencephalon4.53 ± 0.73
Myelencephalon4.43 ± 0.6
Occipital Lobe4 ± 0.6
Parietal Lobe4.52 ± 0.58
Pontine Tegmentum4.16 ± 0.51
Striatum4.33 ± 0.51
Subthalamus3.78 ± 0.41
Temporal Lobe4.67 ± 0.46
Thalamus4.23 ± 0.58
White Matter2.13 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kcnq2CBCerebellum5.82
6.56
Kcnq2CTXCerebral cortex47.21
37.06
Kcnq2HIPHippocampal region37.77
75.16
Kcnq2HPFHippocampal formation36.89
57.3
Kcnq2HYHypothalamus3.81
2.99
Kcnq2LSXLateral septal complex6.16
4.7
Kcnq2MBMidbrain11.56
11.42
Kcnq2MYMedulla27.3
30.46
Kcnq2OLFOlfactory bulb24.43
20.39
Kcnq2PPons17.46
19.32
Kcnq2PALPallidum5.9
5.73
Kcnq2RHPRetrohippocampal region36.47
31.37
Kcnq2sAMYStriatum-like amygdalar nuclei3.77
2.66
Kcnq2STRStriatum11.45
8.04
Kcnq2STRdStriatum dorsal region14.49
10.33
Kcnq2STRvStriatum ventral region11.17
7.14
Kcnq2THThalamus18.68
17.57
Peptide Top

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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