AutismKB 2.0

Annotation Detail for SEPT2


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Basic Information Top
Gene Symbol:SEPT2 ( DIFF6,KIAA0158,NEDD5,Pnutl3,hNedd5 )
Gene Full Name: septin 2
Band: 2q37.3
Quick LinksEntrez ID:4735; OMIM: 601506; Uniprot ID:SEPT2_HUMAN; ENSEMBL ID: ENSG00000168385; HGNC ID: 7729
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200015_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1326.75
Adipocyte887.3
AdrenalCortex427.6
Adrenalgland338.55
Amygdala839.7
Appendix474.65
AtrioventricularNode179.5
BDCA4+_DentriticCells1463.1
Bonemarrow267.8
BronchialEpithelialCells843.3
CD105+_Endothelial849.8
CD14+_Monocytes921.4
CD19+_BCells(neg._sel.)584.55
CD33+_Myeloid974.5
CD34+1057.8
CD4+_Tcells799.85
CD56+_NKCells1271.2
CD71+_EarlyErythroid599.4
CD8+_Tcells823.45
CardiacMyocytes763.2
Caudatenucleus666.25
Cerebellum258.85
CerebellumPeduncles434.35
CiliaryGanglion271.95
CingulateCortex445.15
Colorectaladenocarcinoma485.3
DorsalRootGanglion299.5
FetalThyroid969.6
Fetalbrain692.65
Fetalliver319.3
Fetallung1004.9
GlobusPallidus208.95
Heart54.75
Hypothalamus1544.05
Kidney314.3
Leukemia_chronicMyelogenousK-562567.05
Leukemia_promyelocytic-HL-60578.35
Leukemialymphoblastic(MOLT-4)486.75
Liver123.2
Lung302
Lymphnode696.7
Lymphoma_burkitts(Daudi)626.45
Lymphoma_burkitts(Raji)623.35
MedullaOblongata537.7
OccipitalLobe697.15
OlfactoryBulb927.2
Ovary333.1
Pancreas567.8
PancreaticIslet880.4
ParietalLobe559.7
Pituitary885.75
Placenta565.45
Pons300.2
PrefrontalCortex1065.4
Prostate678.1
Salivarygland600.9
SkeletalMuscle142.35
Skin249.6
SmoothMuscle1435.4
Spinalcord1763.4
SubthalamicNucleus277.2
SuperiorCervicalGanglion219
TemporalLobe234.65
Testis332.9
TestisGermCell818.7
TestisIntersitial542.2
TestisLeydigCell584.15
TestisSeminiferousTubule554.35
Thalamus742.9
Thymus395.95
Thyroid1459.85
Tongue336.7
Tonsil491.1
Trachea511.45
TrigeminalGanglion204.7
Uterus932.9
UterusCorpus477.35
WholeBlood678.35
Wholebrain476.95
colon714.4
pineal_day1082.42
pineal_night993.32
retina1251.9
small_intestine652.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P43092
  • 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
Amygdala5.73 ± 0.32
Basal Forebrain5.86 ± 0.23
Basal Part of Pons5.4 ± 0.27
Cerebellar Cortex5.42 ± 0.15
Cerebellar Nuclei5.65 ± 0.65
Claustrum5.47 ± 0.45
Epithalamus5.93 ± 0.29
Frontal Lobe5.57 ± 0.39
Globus Pallidus6.73 ± 0.27
Hypothalamus5.77 ± 0.4
Insula5.43 ± 0.38
Limbic Lobe5.46 ± 0.41
Mesencephalon5.73 ± 0.4
Myelencephalon5.7 ± 0.39
Occipital Lobe5.69 ± 0.34
Parietal Lobe5.51 ± 0.38
Pontine Tegmentum5.76 ± 0.37
Striatum5.96 ± 0.42
Subthalamus5.47 ± 0.31
Temporal Lobe5.55 ± 0.32
Thalamus5.81 ± 0.35
White Matter7.05 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sept2CBCerebellum19.1
27.86
Sept2CTXCerebral cortex8.59
6.58
Sept2HIPHippocampal region13.46
13.52
Sept2HPFHippocampal formation12.89
11.52
Sept2HYHypothalamus1.83
1.49
Sept2LSXLateral septal complex2.38
1.99
Sept2MBMidbrain6.4
5.71
Sept2MYMedulla10.66
9.32
Sept2OLFOlfactory bulb10.05
7.35
Sept2PPons7.98
6.79
Sept2PALPallidum1.49
1.24
Sept2RHPRetrohippocampal region12.04
8.62
Sept2sAMYStriatum-like amygdalar nuclei0.68
0.5
Sept2STRStriatum3.43
3.12
Sept2STRdStriatum dorsal region4.29
4.19
Sept2STRvStriatum ventral region1.95
1.24
Sept2THThalamus5.09
4.03
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00005406 16 97 112 LTVVDTPGYGDAINCR Peptide Atlas
SEPT2_HUMAN_116 12 116 127 TIISYIDEQFER PRIDE
SEPT2_HUMAN_145 24 145 168 VHCCFYFISPFGHGLKPLDVAFMK PRIDE
SEPT2_HUMAN_198 11 198 208 ILDEIEEHNIK PRIDE
SEPT2_HUMAN_210 20 210 229 IYHLPDAESDEDEDFKEQTR PRIDE
SEPT2_HUMAN_232 17 232 248 ASIPFSVVGSNQLIEAK PRIDE
SEPT2_HUMAN_254 21 254 274 GRLYPWGVVEVENPEHNDFLK PRIDE
SEPT2_HUMAN_277 23 277 299 TMLITHMQDLQEVTQDLHYENFR PRIDE
SEPT2_HUMAN_278 23 278 300 TMLITHMQDLQEVTQDLHYENFR PRIDE
SEPT2_HUMAN_3 27 3 29 QQPTQFINPETPGYVGFANLPNQVHRK PRIDE
SEPT2_HUMAN_310 9 310 318 KVENEDMNK PRIDE
SEPT2_HUMAN_332 7 332 338 MQEMIAR PRIDE
SEPT2_HUMAN_339 23 339 361 MQAQMQMQMQGGDGDGGALGHHV PRIDE
SEPT2_HUMAN_50 16 50 65 STLINSLFLTDLYPER PRIDE
SEPT2_HUMAN_66 11 66 76 VIPGAAEKIER PRIDE
SEPT2_HUMAN_77 14 77 90 TVQIEASTVEIEER PRIDE
SEPT2_HUMAN_96 16 96 111 LTVVDTPGYGDAINCR PRIDE

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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