AutismKB 2.0

Annotation Detail for C2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C2 ( CO2,DKFZp779M0311 )
Gene Full Name: complement component 2
Band: 6p21.33
Quick LinksEntrez ID:717; OMIM: 217000; Uniprot ID:CO2_HUMAN; ENSEMBL ID: ENSG00000166278; HGNC ID: 1248
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 
fetus23 / 56401240
neonate4 / 31097128
infant0 / 236200 
juvenile42 / 55556755
adult155 / 193912179
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor3 / 26384511
glioma4 / 10688337
head and neck tumor3 / 13630222
kidney tumor9 / 68959130
leukemia1 / 9584210
liver tumor92 / 96359954
lung tumor14 / 103127135
lymphoma1 / 7175513
non-neoplasia23 / 97250236
normal202 / 336030760
ovarian tumor12 / 76682156
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites0 / 400150 
bladder0 / 297570 
blood5 / 12347840
bone2 / 7165527
bone marrow0 / 488010 
brain25 / 110098922
cervix1 / 4817120
connective tissue29 / 149255194
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye8 / 21105437
heart3 / 8962633
intestine21 / 23447289
kidney17 / 21177780
larynx2 / 2414582
liver126 / 207743606
lung44 / 336974130
lymph0 / 442700 
lymph node1 / 9161010
mammary gland4 / 15327126
mouth2 / 6705229
muscle2 / 10771518
nerve1 / 1576863
ovary14 / 102051137
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta33 / 280825117
prostate5 / 18934526
salivary gland0 / 201550 
skin3 / 21057414
spleen24 / 53952444
stomach3 / 9661931
testis1 / 3304423
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus19 / 23287881
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203052_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.85
Adipocyte5.4
AdrenalCortex4.8
Adrenalgland3.9
Amygdala4.15
Appendix4.6
AtrioventricularNode4.5
BDCA4+_DentriticCells4.3
Bonemarrow3.95
BronchialEpithelialCells3.85
CD105+_Endothelial6.55
CD14+_Monocytes4.2
CD19+_BCells(neg._sel.)4.15
CD33+_Myeloid5.45
CD34+5
CD4+_Tcells4.2
CD56+_NKCells4.7
CD71+_EarlyErythroid3.85
CD8+_Tcells3.75
CardiacMyocytes5.15
Caudatenucleus3.55
Cerebellum3.2
CerebellumPeduncles4.55
CiliaryGanglion3.25
CingulateCortex4.1
Colorectaladenocarcinoma3.9
DorsalRootGanglion3.2
FetalThyroid3.8
Fetalbrain3.95
Fetalliver45.7
Fetallung6.2
GlobusPallidus2.95
Heart5.2
Hypothalamus4.3
Kidney3.3
Leukemia_chronicMyelogenousK-5623.55
Leukemia_promyelocytic-HL-603.5
Leukemialymphoblastic(MOLT-4)3.2
Liver746.95
Lung68.85
Lymphnode4.6
Lymphoma_burkitts(Daudi)5
Lymphoma_burkitts(Raji)5.5
MedullaOblongata3.55
OccipitalLobe3.55
OlfactoryBulb3.1
Ovary3.15
Pancreas4.35
PancreaticIslet4.25
ParietalLobe4.25
Pituitary4.65
Placenta5.6
Pons4.65
PrefrontalCortex4.85
Prostate4.6
Salivarygland3.2
SkeletalMuscle5
Skin3.2
SmoothMuscle4.45
Spinalcord4.35
SubthalamicNucleus3.6
SuperiorCervicalGanglion6.1
TemporalLobe5.6
Testis3.35
TestisGermCell3.3
TestisIntersitial3.3
TestisLeydigCell4.45
TestisSeminiferousTubule3.4
Thalamus4
Thymus3.1
Thyroid4.95
Tongue4
Tonsil4.45
Trachea3.3
TrigeminalGanglion4.25
Uterus3.15
UterusCorpus3.7
WholeBlood4.3
Wholebrain3.35
colon3.95
pineal_day4.88
pineal_night4.78
retina4.775
small_intestine3.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P133916
  • 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
Amygdala2.49 ± 1.07
Basal Forebrain1.98 ± 0.4
Basal Part of Pons1.92 ± 0.29
Cerebellar Cortex1.97 ± 0.73
Cerebellar Nuclei2.31 ± 0.74
Claustrum2.74 ± 0.7
Epithalamus2.17 ± 0.61
Frontal Lobe1.91 ± 0.72
Globus Pallidus3.15 ± 0.54
Hypothalamus2.05 ± 0.95
Insula2.16 ± 0.68
Limbic Lobe2.06 ± 0.65
Mesencephalon2.35 ± 0.69
Myelencephalon2.2 ± 0.73
Occipital Lobe2.32 ± 0.69
Parietal Lobe2.2 ± 0.73
Pontine Tegmentum2.12 ± 0.82
Striatum2.37 ± 0.77
Subthalamus2.47 ± 0.45
Temporal Lobe2.1 ± 0.78
Thalamus2.09 ± 0.67
White Matter1.83 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
C2CBCerebellum2.26
5.16
C2CTXCerebral cortex0.94
1.43
C2HIPHippocampal region1.42
1.74
C2HPFHippocampal formation1.17
1.49
C2HYHypothalamus1.69
2.32
C2LSXLateral septal complex0.05
0
C2MBMidbrain1.27
1.98
C2MYMedulla2.31
4.13
C2OLFOlfactory bulb1.69
2.13
C2PPons3.71
6.7
C2PALPallidum0.91
0.65
C2RHPRetrohippocampal region0.69
1.08
C2sAMYStriatum-like amygdalar nuclei0.28
0.29
C2STRStriatum0.62
0.58
C2STRdStriatum dorsal region0.33
0.44
C2STRvStriatum ventral region2.07
1.34
C2THThalamus1.24
1.16
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00025315 17 494 510 GALISDQWVLTAAHCFR 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