AutismKB 2.0

Annotation Detail for SYNE2


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Basic Information Top
Gene Symbol:SYNE2 ( DKFZp434H2235,DKFZp686E01115,DKFZp686H1931,EDMD5,FLJ11014,FLJ43727,FLJ45710,FLJ46790,KIAA1011,NUA,NUANCE,Nesprin-2,SYNE-2,TROPH )
Gene Full Name: spectrin repeat containing, nuclear envelope 2
Band: 14q23.2
Quick LinksEntrez ID:23224; OMIM: 608442; Uniprot ID:SYNE2_HUMAN; ENSEMBL ID: ENSG00000054654; HGNC ID: 17084
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202761_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts32.7
Adipocyte11.85
AdrenalCortex18.45
Adrenalgland15.2
Amygdala17.1
Appendix19.45
AtrioventricularNode13.35
BDCA4+_DentriticCells28
Bonemarrow13.25
BronchialEpithelialCells16.75
CD105+_Endothelial15.8
CD14+_Monocytes12.6
CD19+_BCells(neg._sel.)42.8
CD33+_Myeloid9.65
CD34+13.25
CD4+_Tcells388.65
CD56+_NKCells551.8
CD71+_EarlyErythroid11.75
CD8+_Tcells688.65
CardiacMyocytes21.95
Caudatenucleus13.05
Cerebellum15.4
CerebellumPeduncles33.55
CiliaryGanglion12.3
CingulateCortex15
Colorectaladenocarcinoma21.6
DorsalRootGanglion13.45
FetalThyroid150.4
Fetalbrain20.2
Fetalliver13
Fetallung24.35
GlobusPallidus12.6
Heart86.45
Hypothalamus18.75
Kidney47.9
Leukemia_chronicMyelogenousK-56215.05
Leukemia_promyelocytic-HL-60105.35
Leukemialymphoblastic(MOLT-4)24.95
Liver23.55
Lung61.65
Lymphnode37.1
Lymphoma_burkitts(Daudi)353.6
Lymphoma_burkitts(Raji)146
MedullaOblongata11.35
OccipitalLobe15.2
OlfactoryBulb15.05
Ovary28.75
Pancreas59.6
PancreaticIslet72.45
ParietalLobe18.1
Pituitary86.6
Placenta38.85
Pons16.2
PrefrontalCortex20.85
Prostate50.2
Salivarygland40.55
SkeletalMuscle99
Skin21.9
SmoothMuscle15.3
Spinalcord18.6
SubthalamicNucleus15.25
SuperiorCervicalGanglion19.45
TemporalLobe11.8
Testis34.45
TestisGermCell170.65
TestisIntersitial29.15
TestisLeydigCell28.25
TestisSeminiferousTubule23.15
Thalamus17.5
Thymus21.5
Thyroid535.55
Tongue49.6
Tonsil34.05
Trachea32.55
TrigeminalGanglion18
Uterus50.95
UterusCorpus17.45
WholeBlood45.1
Wholebrain12.25
colon127.35
pineal_day60.56
pineal_night76.24
retina113.1
small_intestine67.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P68311
  • 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
Amygdala5.01 ± 0.42
Basal Forebrain5.36 ± 0.26
Basal Part of Pons4.9 ± 0.42
Cerebellar Cortex5.95 ± 0.33
Cerebellar Nuclei5.9 ± 0.19
Claustrum4.91 ± 0.64
Epithalamus6.28 ± 0.49
Frontal Lobe5.14 ± 0.61
Globus Pallidus6.09 ± 0.87
Hypothalamus5.12 ± 0.65
Insula4.86 ± 0.82
Limbic Lobe5.05 ± 0.7
Mesencephalon5.5 ± 0.6
Myelencephalon5.42 ± 0.6
Occipital Lobe5.55 ± 0.59
Parietal Lobe5.12 ± 0.56
Pontine Tegmentum5.38 ± 0.67
Striatum5.74 ± 0.85
Subthalamus5.47 ± 0.92
Temporal Lobe5.15 ± 0.46
Thalamus5.52 ± 0.49
White Matter6.49 ± 0.82
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Syne2CBCerebellum22.63
26.9
Syne2CTXCerebral cortex1.14
1.18
Syne2HIPHippocampal region2.19
2.2
Syne2HPFHippocampal formation1.71
1.59
Syne2HYHypothalamus0.68
0.66
Syne2LSXLateral septal complex1.82
2.44
Syne2MBMidbrain1.55
1.76
Syne2MYMedulla6.68
8.66
Syne2OLFOlfactory bulb3.95
3.06
Syne2PPons1.22
1.34
Syne2PALPallidum0.76
0.74
Syne2RHPRetrohippocampal region1.06
0.9
Syne2sAMYStriatum-like amygdalar nuclei0.45
0.46
Syne2STRStriatum1.3
1.82
Syne2STRdStriatum dorsal region1.38
2.12
Syne2STRvStriatum ventral region0.44
0.53
Syne2THThalamus0.81
0.78
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00040141 29 5529 5557 ENPDSFLNHVLALTAQSPDIEHLNEVSLK Peptide Atlas
SYNE2_HUMAN_1050 11 1050 1060 NEGTITTSENR PRIDE
SYNE2_HUMAN_6233 7 6233 6239 VTAVLRR PRIDE

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  (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