AutismKB 2.0

Annotation Detail for GIT2


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Basic Information Top
Gene Symbol:GIT2 ( CAT-2,CAT2,DKFZp686G01261,KIAA0148,MGC760 )
Gene Full Name: G protein-coupled receptor kinase interacting ArfGAP 2
Band: 12q24.11
Quick LinksEntrez ID:9815; OMIM: 608564; Uniprot ID:GIT2_HUMAN; ENSEMBL ID: ENSG00000139436; HGNC ID: 4273
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
blastocyst1 / 6231916
fetus54 / 56401295
neonate1 / 3109732
infant0 / 236200 
juvenile5 / 5555689
adult120 / 193912161
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma8 / 8282396
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor21 / 26384579
glioma7 / 10688365
head and neck tumor9 / 13630266
kidney tumor3 / 6895943
leukemia8 / 9584283
liver tumor8 / 9635983
lung tumor2 / 10312719
lymphoma7 / 7175597
non-neoplasia6 / 9725061
normal247 / 336030773
ovarian tumor4 / 7668252
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor13 / 124949104
soft tissue/muscle tissue tumor24 / 125191191
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder4 / 29757134
blood12 / 12347897
bone4 / 7165555
bone marrow2 / 4880140
brain87 / 110098979
cervix5 / 48171103
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye13 / 21105461
heart5 / 8962655
intestine19 / 23447281
kidney14 / 21177766
larynx0 / 241450 
liver8 / 20774338
lung13 / 33697438
lymph0 / 442700 
lymph node22 / 91610240
mammary gland6 / 15327139
mouth9 / 67052134
muscle18 / 107715167
nerve1 / 1576863
ovary4 / 10205139
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta24 / 28082585
prostate3 / 18934515
salivary gland1 / 2015549
skin17 / 21057480
spleen6 / 53952111
stomach5 / 9661951
testis32 / 33044296
thymus21 / 81131258
thyroid1 / 4747321
tonsil3 / 16999176
trachea3 / 5241357
umbilical cord0 / 136800 
uterus22 / 23287894
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209876_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.05
Adipocyte5.05
AdrenalCortex5.5
Adrenalgland4.65
Amygdala5.9
Appendix5.4
AtrioventricularNode5.45
BDCA4+_DentriticCells139.15
Bonemarrow5.35
BronchialEpithelialCells5.05
CD105+_Endothelial5.3
CD14+_Monocytes29.35
CD19+_BCells(neg._sel.)14.25
CD33+_Myeloid107.4
CD34+56.95
CD4+_Tcells15.65
CD56+_NKCells74.15
CD71+_EarlyErythroid4.85
CD8+_Tcells15.45
CardiacMyocytes6.6
Caudatenucleus4.65
Cerebellum4.35
CerebellumPeduncles6.05
CiliaryGanglion4
CingulateCortex5.3
Colorectaladenocarcinoma5.1
DorsalRootGanglion4.35
FetalThyroid5.15
Fetalbrain5.05
Fetalliver4.5
Fetallung4.25
GlobusPallidus3.85
Heart7.35
Hypothalamus5.65
Kidney4.3
Leukemia_chronicMyelogenousK-5624.6
Leukemia_promyelocytic-HL-604.55
Leukemialymphoblastic(MOLT-4)4
Liver7.35
Lung5.7
Lymphnode4.95
Lymphoma_burkitts(Daudi)6.7
Lymphoma_burkitts(Raji)7.45
MedullaOblongata4.7
OccipitalLobe4.6
OlfactoryBulb4.05
Ovary3.45
Pancreas4.35
PancreaticIslet6.1
ParietalLobe5.9
Pituitary6.05
Placenta5.8
Pons5.65
PrefrontalCortex6.35
Prostate5.95
Salivarygland4.35
SkeletalMuscle6.85
Skin4.35
SmoothMuscle5.85
Spinalcord5.45
SubthalamicNucleus5
SuperiorCervicalGanglion6.5
TemporalLobe4.8
Testis4.95
TestisGermCell4.35
TestisIntersitial4.45
TestisLeydigCell5.95
TestisSeminiferousTubule4.45
Thalamus5.2
Thymus4.55
Thyroid6.6
Tongue5.1
Tonsil5.5
Trachea4.3
TrigeminalGanglion5.25
Uterus4.2
UterusCorpus4.7
WholeBlood6.25
Wholebrain4.3
colon5.2
pineal_day6.48
pineal_night6.36
retina6.225
small_intestine4.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P204436
  • 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
Amygdala3.9 ± 0.49
Basal Forebrain3.64 ± 0.36
Basal Part of Pons3.6 ± 0.41
Cerebellar Cortex4.19 ± 0.32
Cerebellar Nuclei3.6 ± 0.51
Claustrum4.26 ± 0.93
Epithalamus3.81 ± 0.56
Frontal Lobe3.54 ± 0.67
Globus Pallidus3.13 ± 0.84
Hypothalamus3.3 ± 0.67
Insula3.58 ± 0.43
Limbic Lobe3.88 ± 0.56
Mesencephalon3.54 ± 0.64
Myelencephalon3.65 ± 0.6
Occipital Lobe3.93 ± 0.63
Parietal Lobe3.66 ± 0.56
Pontine Tegmentum3.69 ± 0.71
Striatum4.08 ± 0.47
Subthalamus3.22 ± 0.42
Temporal Lobe3.65 ± 0.49
Thalamus3.41 ± 0.69
White Matter3.58 ± 0.47
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Git2CBCerebellum100
100
Git2CTXCerebral cortex46.18
29.87
Git2HIPHippocampal region36.05
47.35
Git2HPFHippocampal formation41.07
42.58
Git2HYHypothalamus32.73
22.68
Git2LSXLateral septal complex20.82
13.2
Git2MBMidbrain35.17
28.01
Git2MYMedulla40.07
38.7
Git2OLFOlfactory bulb60.95
49.25
Git2PPons37.68
33.62
Git2PALPallidum27.1
19.81
Git2RHPRetrohippocampal region48.01
35.08
Git2sAMYStriatum-like amygdalar nuclei39.51
26.97
Git2STRStriatum27.75
18.34
Git2STRdStriatum dorsal region25.44
17.16
Git2STRvStriatum ventral region33.7
20.64
Git2THThalamus23.02
17.23
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
GIT2_HUMAN_111 9 111 119 YQMLAFVHR PRIDE
PAp00041596 12 120 131 LPCRDDDSVTAK 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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