AutismKB 2.0

Annotation Detail for ADD2


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Basic Information Top
Gene Symbol:ADD2 ( ADDB )
Gene Full Name: adducin 2 (beta)
Band: 2p13.3
Quick LinksEntrez ID:119; OMIM: 102681; Uniprot ID:ADDB_HUMAN; ENSEMBL ID: ENSG00000075340; HGNC ID: 244
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 body2 / 7076128
blastocyst7 / 62319112
fetus241 / 564012427
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult47 / 193912124
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 
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor33 / 263845125
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal325 / 336030796
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma19 / 46356409
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
blood2 / 12347816
bone4 / 7165555
bone marrow1 / 4880120
brain245 / 1100989222
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye29 / 211054137
heart4 / 8962644
intestine0 / 2344720 
kidney6 / 21177728
larynx0 / 241450 
liver5 / 20774324
lung5 / 33697414
lymph0 / 442700 
lymph node2 / 9161021
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis27 / 33044281
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: 205268_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.15
Adipocyte4
AdrenalCortex4.35
Adrenalgland3.5
Amygdala4.4
Appendix4.25
AtrioventricularNode3.7
BDCA4+_DentriticCells4.35
Bonemarrow68.2
BronchialEpithelialCells3.95
CD105+_Endothelial677.8
CD14+_Monocytes4.45
CD19+_BCells(neg._sel.)4.45
CD33+_Myeloid5.55
CD34+36.6
CD4+_Tcells4.5
CD56+_NKCells5
CD71+_EarlyErythroid701.65
CD8+_Tcells3.95
CardiacMyocytes5.15
Caudatenucleus5.6
Cerebellum4.05
CerebellumPeduncles6.9
CiliaryGanglion3
CingulateCortex6.2
Colorectaladenocarcinoma4.1
DorsalRootGanglion3.4
FetalThyroid4
Fetalbrain11.65
Fetalliver98.4
Fetallung3.4
GlobusPallidus7.25
Heart5.15
Hypothalamus4.5
Kidney3.35
Leukemia_chronicMyelogenousK-5625.9
Leukemia_promyelocytic-HL-603.6
Leukemialymphoblastic(MOLT-4)3.35
Liver5.55
Lung4.5
Lymphnode3.6
Lymphoma_burkitts(Daudi)5.25
Lymphoma_burkitts(Raji)5.7
MedullaOblongata3.9
OccipitalLobe6.35
OlfactoryBulb3.45
Ovary2.75
Pancreas3.3
PancreaticIslet4.4
ParietalLobe4.45
Pituitary4.85
Placenta4.1
Pons5.7
PrefrontalCortex7.35
Prostate4.6
Salivarygland3.35
SkeletalMuscle4.95
Skin5
SmoothMuscle4.55
Spinalcord4.45
SubthalamicNucleus5.85
SuperiorCervicalGanglion4.7
TemporalLobe8.75
Testis3.55
TestisGermCell3.4
TestisIntersitial3.45
TestisLeydigCell4.1
TestisSeminiferousTubule3.55
Thalamus4.25
Thymus3.2
Thyroid5
Tongue4
Tonsil4.3
Trachea3.45
TrigeminalGanglion8.75
Uterus3.35
UterusCorpus3.65
WholeBlood4.35
Wholebrain5.05
colon4.05
pineal_day16.08
pineal_night9.5
retina4.925
small_intestine3.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11756_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
Amygdala9.58 ± 0.43
Basal Forebrain8.68 ± 0.18
Basal Part of Pons9.68 ± 0.28
Cerebellar Cortex8.94 ± 0.23
Cerebellar Nuclei8.05 ± 0.45
Claustrum9.36 ± 0.7
Epithalamus7.98 ± 0.66
Frontal Lobe8.79 ± 0.45
Globus Pallidus7.39 ± 0.62
Hypothalamus8.41 ± 0.54
Insula8.83 ± 0.36
Limbic Lobe9.52 ± 0.5
Mesencephalon8.75 ± 0.73
Myelencephalon8.98 ± 0.58
Occipital Lobe9.61 ± 0.71
Parietal Lobe8.99 ± 0.45
Pontine Tegmentum8.75 ± 0.55
Striatum9.68 ± 0.45
Subthalamus8.54 ± 0.08
Temporal Lobe8.97 ± 0.35
Thalamus9.04 ± 0.4
White Matter6.32 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Add2CBCerebellum100
100
Add2CTXCerebral cortex100
100
Add2HIPHippocampal region100
100
Add2HPFHippocampal formation100
100
Add2HYHypothalamus100
100
Add2LSXLateral septal complex100
100
Add2MBMidbrain100
100
Add2MYMedulla100
100
Add2OLFOlfactory bulb100
100
Add2PPons100
100
Add2PALPallidum100
100
Add2RHPRetrohippocampal region100
100
Add2sAMYStriatum-like amygdalar nuclei100
100
Add2STRStriatum100
100
Add2STRdStriatum dorsal region100
100
Add2STRvStriatum ventral region100
100
Add2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ADDB_HUMAN_2 22 2 23 SEETVPEAASPPPPQGQPYFDR PRIDE
ADDB_HUMAN_421 12 421 432 QHAQKQQKEKTR PRIDE
PAp00032111 19 634 652 AATTEPETTQPEGVVVNGR 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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