AutismKB 2.0

Annotation Detail for NKX2-2


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Basic Information Top
Gene Symbol:NKX2-2 ( NKX2.2,NKX2B )
Gene Full Name: NK2 homeobox 2
Band: 20p11.22
Quick LinksEntrez ID:4821; OMIM: 604612; Uniprot ID:NKX22_HUMAN; ENSEMBL ID: ENSG00000125820; HGNC ID: 7835
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult18 / 19391219
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal43 / 336030712
ovarian tumor0 / 766820 
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS1 / 1256807
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain7 / 11009896
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas43 / 214812200
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
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: 206915_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.05
Adipocyte5.9
AdrenalCortex6.55
Adrenalgland5.15
Amygdala22.75
Appendix6.45
AtrioventricularNode4.9
BDCA4+_DentriticCells6.4
Bonemarrow6.15
BronchialEpithelialCells5.7
CD105+_Endothelial6.35
CD14+_Monocytes6.35
CD19+_BCells(neg._sel.)6.3
CD33+_Myeloid7.65
CD34+7.65
CD4+_Tcells6.15
CD56+_NKCells6.95
CD71+_EarlyErythroid5.6
CD8+_Tcells5.55
CardiacMyocytes8.55
Caudatenucleus5.7
Cerebellum6
CerebellumPeduncles8.15
CiliaryGanglion4.3
CingulateCortex6.5
Colorectaladenocarcinoma5.95
DorsalRootGanglion4.7
FetalThyroid5.85
Fetalbrain5.95
Fetalliver5.15
Fetallung4.7
GlobusPallidus4.7
Heart8.35
Hypothalamus26.5
Kidney5
Leukemia_chronicMyelogenousK-5625.4
Leukemia_promyelocytic-HL-605.25
Leukemialymphoblastic(MOLT-4)4.8
Liver8.15
Lung6.55
Lymphnode5.15
Lymphoma_burkitts(Daudi)7.65
Lymphoma_burkitts(Raji)8.5
MedullaOblongata14.15
OccipitalLobe22.35
OlfactoryBulb4.75
Ovary4.1
Pancreas4.8
PancreaticIslet95.8
ParietalLobe10.25
Pituitary7.15
Placenta5.95
Pons5.7
PrefrontalCortex47.2
Prostate7
Salivarygland4.85
SkeletalMuscle7.55
Skin4.7
SmoothMuscle6.75
Spinalcord137.55
SubthalamicNucleus7.05
SuperiorCervicalGanglion6.9
TemporalLobe5.5
Testis5.1
TestisGermCell4.95
TestisIntersitial5
TestisLeydigCell5.95
TestisSeminiferousTubule5.1
Thalamus7.25
Thymus4.55
Thyroid7.2
Tongue5.9
Tonsil5.85
Trachea5
TrigeminalGanglion6.5
Uterus4.75
UterusCorpus5.8
WholeBlood6.5
Wholebrain46
colon5.95
pineal_day7.48
pineal_night7.28
retina53.825
small_intestine5.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_17089_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
Amygdala2.34 ± 1.1
Basal Forebrain2 ± 0.26
Basal Part of Pons1.61 ± 0.34
Cerebellar Cortex1.84 ± 0.78
Cerebellar Nuclei2.42 ± 0.7
Claustrum2.64 ± 0.8
Epithalamus1.61 ± 0.73
Frontal Lobe1.82 ± 0.78
Globus Pallidus3.11 ± 0.48
Hypothalamus2.01 ± 0.7
Insula1.57 ± 0.51
Limbic Lobe1.97 ± 0.79
Mesencephalon2.17 ± 0.81
Myelencephalon2.01 ± 0.81
Occipital Lobe2.11 ± 0.65
Parietal Lobe1.89 ± 0.76
Pontine Tegmentum1.94 ± 0.7
Striatum2.08 ± 0.69
Subthalamus2.22 ± 0.2
Temporal Lobe1.74 ± 0.65
Thalamus2.01 ± 0.78
White Matter4.01 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nkx2-2CBCerebellum16.64
19.2
Nkx2-2CTXCerebral cortex20.6
14.6
Nkx2-2HIPHippocampal region16.26
17.95
Nkx2-2HPFHippocampal formation15.44
14.56
Nkx2-2HYHypothalamus5.74
4.35
Nkx2-2LSXLateral septal complex8.56
5.8
Nkx2-2MBMidbrain6.8
6.11
Nkx2-2MYMedulla11.24
10.85
Nkx2-2OLFOlfactory bulb23.83
17.82
Nkx2-2PPons8.21
7.87
Nkx2-2PALPallidum4.66
3.58
Nkx2-2RHPRetrohippocampal region13.33
9.24
Nkx2-2sAMYStriatum-like amygdalar nuclei11.43
7.99
Nkx2-2STRStriatum11.74
8.17
Nkx2-2STRdStriatum dorsal region13.42
9.66
Nkx2-2STRvStriatum ventral region7.92
4.87
Nkx2-2THThalamus13.39
10.75
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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