Gene Page:SHANK2

Summary?
GeneID 22941
Symbol SHANK2
Synonyms AUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3
Description SH3 and multiple ankyrin repeat domains 2
Reference MIM:603290|HGNC:HGNC:14295|Ensembl:ENSG00000162105|HPRD:04479|Vega:OTTHUMG00000154615
Gene type protein-coding
Map location 11q13.2
Pascal p-value 0.028
Sherlock p-value 0.191
Fetal beta 0.605
DMG 1 (# studies)
eGene Myers' cis & trans
Support PROTEIN CLUSTERING
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.humanNRC
CompositeSet
Darnell FMRP targets
Potential synaptic genes

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Wockner_2014 Genome-wide DNA methylation analysis This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 2
PMID:cooccur High-throughput literature-search 系统搜索PubMed的基因co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature High-throughput literature-search Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenias Click to show details
GO_Annotation Mapping neuro-related keywords to Gene Ontology annotations Hits with neuro-related keywords: 2
Network Shortest path distance of core genes in the Human protein-protein interaction network Contribution to shortest path in PPI network: 0.061

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg26025487 11 70674245 SHANK2 1.175E-4 0.375 0.029 DMG:Wockner_2014
cg16456980 11 70714131 SHANK2 2.874E-4 -0.49 0.039 DMG:Wockner_2014

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance eQTL type
rs16894557 chr6 28999825 SHANK2 22941 0.02 trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
ADNP 0.95 0.96
CYTSA 0.95 0.96
UBR5 0.94 0.95
LATS1 0.94 0.96
MGA 0.94 0.94
ZNF518B 0.94 0.97
NSD1 0.94 0.96
MED1 0.94 0.96
ARID2 0.94 0.95
HMGXB4 0.94 0.95
Top 10 negatively co-expressed genes
Gene Pearson's Correlation Spearman's Correlation
AF347015.31 -0.70 -0.88
FXYD1 -0.70 -0.88
HLA-F -0.69 -0.76
AIFM3 -0.69 -0.76
MT-CO2 -0.69 -0.88
TSC22D4 -0.68 -0.79
S100B -0.68 -0.82
AF347015.27 -0.68 -0.84
C5orf53 -0.68 -0.74
IFI27 -0.67 -0.85

Section III. Gene Ontology annotation

Molecular function 去的术语 Evidence Neuro keywords PubMed ID
GO:0030160 GKAP/Homer scaffold activity NAS Synap (GO term level: 6) 10506216
GO:0005515 protein binding 新闻学会 11583995
GO:0005515 protein binding NAS -
GO:0017124 SH3 domain binding IEA -
Biological process 去的术语 Evidence Neuro keywords PubMed ID
GO:0007242 intracellular signaling cascade NAS -
Cellular component 去的术语 Evidence Neuro keywords PubMed ID
GO:0045211 postsynaptic membrane IEA Synap, Neurotransmitter (GO term level: 5) -
GO:0045202 synapse IEA neuron, Synap, Neurotransmitter, Glial (GO term level: 2) -
GO:0005737 cytoplasm IEA -
GO:0005886 plasma membrane IEA -
GO:0030054 cell junction IEA -

Section IV. Protein-protein interaction annotation

Interactors Aliases B Official full name B Experimental Source PubMed ID
ARHGEF7 BETA-PIX | COOL1 | DKFZp686C12170 | DKFZp761K1021 | KIAA0142 | KIAA0412 | Nbla10314 | P50 | P50BP | P85 | P85COOL1 | P85SPR | PAK3 | PIXB Rho guanine nucleotide exchange factor (GEF) 7 - HPRD,BioGRID 12626503
BAI2 - brain-specific angiogenesis inhibitor 2 - HPRD,BioGRID 10964907
BAIAP2 BAP2 | IRSP53 BAI1-associated protein 2 - HPRD 12504591
CTTN EMS1 | FLJ34459 cortactin - HPRD,BioGRID 9742101
DLG4 FLJ97752 | FLJ98574 | PSD95 | SAP90 discs, large homolog 4 (Drosophila) - HPRD,BioGRID 10527873
DLGAP1 DAP-1 | DAP-1-ALPHA | DAP-1-BETA | GKAP | MGC88156 | SAPAP1 | hGKAP discs, large (Drosophila) homolog-associated protein 1 - HPRD,BioGRID 10527873
DLGAP2 DAP2 | SAPAP2 discs, large (Drosophila) homolog-associated protein 2 Two-hybrid BioGRID 10527873
DLGAP3 DAP3 | SAPAP3 discs, large (Drosophila) homolog-associated protein 3 Two-hybrid BioGRID 10527873
DLGAP4 DAP4 | KIAA0964 | MGC131862 | RP5-977B1.6 | SAPAP4 discs, large (Drosophila) homolog-associated protein 4 Two-hybrid BioGRID 10527873
DNM2 CMTDI1 | CMTDIB | DI-CMTB | DYN2 | DYNII dynamin 2 - HPRD,BioGRID 11583995
DYNLL1 DLC1 | DLC8 | DNCL1 | DNCLC1 | LC8 | LC8a | MGC126137 | MGC126138 | PIN | hdlc1 dynein, light chain, LC8-type 1 Affinity Capture-Western BioGRID 10844022
DYNLL2 DNCL1B | Dlc2 | MGC17810 dynein, light chain, LC8-type 2 Affinity Capture-Western BioGRID 10844022
LPHN1 CIRL1 | CL1 | LEC2 latrophilin 1 - HPRD,BioGRID 10964907
LPHN2 CIRL2 | CL2 | LEC1 | LPHH1 latrophilin 2 - HPRD,BioGRID 10964907
MYO5A GS1 | MYH12 | MYO5 | MYR12 myosin VA (heavy chain 12, myoxin) Affinity Capture-Western BioGRID 10844022
SSTR2 - somatostatin receptor 2 - HPRD 10373412


Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
SCHUETZ BREAST CANCER DUCTAL INVASIVE DN 84 53 All SZGR 2.0 genes in this pathway
FRASOR TAMOXIFEN RESPONSE UP 51 36 All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL UP 380 215 All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL UP 450 256 All SZGR 2.0 genes in this pathway
DODD NASOPHARYNGEAL CARCINOMA UP 1821 933 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805 505 All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC DN 537 339 All SZGR 2.0 genes in this pathway
罗德里格斯甲状腺癌DN 77 52 All SZGR 2.0 genes in this pathway
GOZGIT ESR1 TARGETS DN 781 465 All SZGR 2.0 genes in this pathway
ODONNELL METASTASIS UP 82 58 All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS UP 1037 673 All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 11Q12 Q14 AMPLICON 158 93 All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546 351 All SZGR 2.0 genes in this pathway
MOREAUX MULTIPLE MYELOMA BY TACI UP 412 249 All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237 837 All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY NO BLOOD DN 150 93 All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY DN 145 88 All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY UP 487 303 All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 2 473 224 All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 5 482 296 All SZGR 2.0 genes in this pathway
MASSARWEH TAMOXIFEN RESISTANCE UP 578 341 All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS UP 395 249 All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS DN 442 275 All SZGR 2.0 genes in this pathway
MEISSNER ES ICP WITH H3K4ME3 34 17 All SZGR 2.0 genes in this pathway
MEISSNER NPC ICP WITH H3 UNMETHYLATED 24 15 All SZGR 2.0 genes in this pathway
MEISSNER BRAIN ICP WITH H3K4ME3 32 17 All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 ICP WITH H3K27ME3 74 46 All SZGR 2.0 genes in this pathway
NAKAYAMA SOFT TISSUE TUMORS PCA1 DN 74 47 All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE UP 857 456 All SZGR 2.0 genes in this pathway
ACOSTA PROLIFERATION INDEPENDENT MYC TARGETS DN 116 74 All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770 480 All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family Target position miRNA ID miRNA seq
UTR start UTR end Match method
miR-101 2883 2889 1A hsa-miR-101 UACAGUACUGUGAUAACUGAAG
hsa-miR-101 UACAGUACUGUGAUAACUGAAG
miR-124/506 4847 4853 m8 hsa-miR-506 UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brain UAAGGCACGCGGUGAAUGCC
hsa-miR-506 UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brain UAAGGCACGCGGUGAAUGCC
miR-130/301 3358 3364 m8 hsa-miR-130abrain CAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301 CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrain CAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3p UAGUGCAAUAUUGCUUAUAGGGUUU
miR-137 2716 2723 1A,m8 hsa-miR-137 UAUUGCUUAAGAAUACGCGUAG
miR-142-5p 3326 3333 1A,m8 hsa-miR-142-5p CAUAAAGUAGAAAGCACUAC
miR-144 3404 3410 1A hsa-miR-144 UACAGUAUAGAUGAUGUACUAG
hsa-miR-144 UACAGUAUAGAUGAUGUACUAG
miR-186 1673 1679 1A hsa-miR-186 CAAAGAAUUCUCCUUUUGGGCUU
miR-19 3357 3363 m8 hsa-miR-19a UGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19b UGUGCAAAUCCAUGCAAAACUGA
miR-218 1713 1720 1A,m8 hsa-miR-218brain UUGUGCUUGAUCUAACCAUGU
hsa-miR-218brain UUGUGCUUGAUCUAACCAUGU
miR-221/222 4824 4830 m8 hsa-miR-221brain AGCUACAUUGUCUGCUGGGUUUC
hsa-miR-222brain AGCUACAUCUGGCUACUGGGUCUC
miR-23 3045 3051 m8 hsa-miR-23abrain AUCACAUUGCCAGGGAUUUCC
hsa-miR-23bbrain AUCACAUUGCCAGGGAUUACC
miR-323 3045 3051 1A hsa-miR-323brain GCACAUUACACGGUCGACCUCU
miR-324-3p 648 654 m8 hsa-miR-324-3p CCACUGCCCCAGGUGCUGCUGG
miR-33 4879 4885 m8 hsa-miR-33 GUGCAUUGUAGUUGCAUUG
hsa-miR-33b GUGCAUUGCUGUUGCAUUGCA
miR-374 1574 1580 1A hsa-miR-374 UUAUAAUACAACCUGAUAAGUG
miR-381 3385 3391 m8 hsa-miR-381 UAUACAAGGGCAAGCUCUCUGU
miR-495 2874 2880 1A hsa-miR-495brain AAACAAACAUGGUGCACUUCUUU
miR-7 2293 2300 1A,m8 hsa-miR-7SZ UGGAAGACUAGUGAUUUUGUUG
miR-9 127 133 1A hsa-miR-9SZ UCUUUGGUUAUCUAGCUGUAUGA