SZGR2

Summary ?

GeneID	6711
Symbol	SPTBN1
Synonyms	ELF\|HEL102\|SPTB2\|betaSpII
Description	spectrin beta, non-erythrocytic 1
Reference	MIM:182790\|HGNC:HGNC:11275\|Ensembl:ENSG00000115306\|HPRD:01683\|Vega:OTTHUMG00000133746
Gene type	protein-coding
Map location	2p21
Pascal p-value	0.004
Sherlock p-value	0.407
Fetal beta	1.019
eGene	Myers' cis & trans
Support	STRUCTURAL PLASTICITY G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS G2Cdb.human_PocklingtonH1 G2Cdb.human_TAP-PSD-95-CORE G2Cdb.humanNRC CompositeSet Darnell FMRP targets Ascano FMRP targets Potential synaptic genes

Gene in Data Sources

Gene set name	Method of gene set	Description
CV:GWASdb	Genome-wide Association Studies	GWASdb records for schizophrenia
CV:PGCnp	Genome-wide Association Study	GWAS
Network	Shortest path distance of core genes in the Human protein-protein interaction network	Contribution to shortest path in PPI network: 0.096

Section I. Genetics and epigenetics annotation

eQTL annotation

SNP ID	Chromosome	Position	eGene	Gene Entrez ID	qvalue	eQTL type
rs10186140	chr2	54362974	SPTBN1	6711	0.17	cis
rs2020214	chr3	73815696	SPTBN1	6711	0.07	trans
rs11175122	chr12	64084446	SPTBN1	6711	0.08	trans
rs2717424	chr12	71020775	SPTBN1	6711	0.14	trans
rs12876724	chr13	67078988	SPTBN1	6711	0.1	trans

Section II. Transcriptome annotation

General gene expression (GTEx)

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
LRRC4C	0.78	0.87
CDH13	0.77	0.76
PRPS2	0.74	0.79
RP4-788L13.1	0.72	0.67
GPR176	0.72	0.80
CACNA1I	0.71	0.84
AC012652.1	0.71	0.82
PCDHA5	0.70	0.62
MARCH1	0.70	0.54
FAM19A1	0.70	0.73

Top 10 negatively co-expressed genes
Gene	Pearson's Correlation	Spearman's Correlation
PECI	-0.39	-0.38
IMPA2	-0.37	-0.45
RAB13	-0.36	-0.46
DECR1	-0.35	-0.29
ANP32B	-0.34	-0.46
C11orf67	-0.33	-0.26
ACAA2	-0.32	-0.29
AK2	-0.32	-0.32
AP002478.3	-0.31	-0.23
NSBP1	-0.31	-0.33

Section III. Gene Ontology annotation

Molecular function	GO term	Evidence	Neuro keywords	PubMed ID
GO:0003779	actin binding	TAS		1527002
GO:0005516	calmodulin binding	IEA		-
GO:0005200	structural constituent of cytoskeleton	TAS		1527002
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0007184	SMAD protein nuclear translocation	IEA		-
GO:0007182	common-partner SMAD protein phosphorylation	IEA		-
GO:0051016	barbed-end actin filament capping	IEA		-
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005856	cytoskeleton	IEA		-
GO:0005634	nucleus	IEA		-
GO:0005730	nucleolus	IDA		9537418
GO:0005737	cytoplasm	IDA		9537418
GO:0008091	spectrin	TAS		1527002
GO:0005886	plasma membrane	IEA		-

Section IV. Protein-protein interaction annotation

Interactors	Aliases B	Official full name B	Experimental	Source	PubMed ID
ACTR1A	ARP1 \| CTRN1 \| FLJ52695 \| FLJ52800 \| FLJ55002	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	-	HPRD	8991093
CPNE1	COPN1 \| CPN1 \| MGC1142	copine I	-	HPRD	12522145
CPNE4	COPN4 \| CPN4 \| MGC15604	copine IV	-	HPRD	12522145
CTNNA1	CAP102 \| FLJ36832	catenin (cadherin-associated protein), alpha 1, 102kDa	Reconstituted Complex	BioGRID	11069925
DCTN1	DAP-150 \| DP-150 \| HMN7B \| P135	dynactin 1 (p150, glued homolog, Drosophila)	Affinity Capture-Western	BioGRID	8991093
EPB41	4.1R \| EL1 \| HE	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	-	HPRD	12901833
EPB41L3	4.1B \| DAL-1 \| DAL1 \| FLJ37633 \| KIAA0987	erythrocyte membrane protein band 4.1-like 3	Reconstituted Complex	BioGRID	15116094
EPB41L3	4.1B \| DAL-1 \| DAL1 \| FLJ37633 \| KIAA0987	erythrocyte membrane protein band 4.1-like 3	EPB41L3 (DAL-1) interacts with an unspecified isoform of SPTBN1 (beta-II-spectrin).	BIND	15688033
GRIA2	GLUR2 \| GLURB \| GluR-K2 \| HBGR2	glutamate receptor, ionotropic, AMPA 2	Far Western	BioGRID	10576550
IKBKE	IKK-i \| IKKE \| IKKI \| KIAA0151 \| MGC125294 \| MGC125295 \| MGC125297	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	-	HPRD	14743216
MAP3K3	MAPKKK3 \| MEKK3	mitogen-activated protein kinase kinase kinase 3	-	HPRD	14743216
NF2	ACN \| BANF \| SCH	neurofibromin 2 (merlin)	-	HPRD,BioGRID	11535133
RIPK3	RIP3	receptor-interacting serine-threonine kinase 3	-	HPRD	14743216
SMAD3	DKFZp586N0721 \| DKFZp686J10186 \| HSPC193 \| HsT17436 \| JV15-2 \| MADH3 \| MGC60396	SMAD family member 3	-	HPRD	12543979
SMAD4	DPC4 \| JIP \| MADH4	SMAD family member 4	-	HPRD	12543979

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
PID TGFBR PATHWAY	55	38	All SZGR 2.0 genes in this pathway
REACTOME DEVELOPMENTAL BIOLOGY	396	292	All SZGR 2.0 genes in this pathway
REACTOME CELL CELL COMMUNICATION	120	77	All SZGR 2.0 genes in this pathway
REACTOME AXON GUIDANCE	251	188	All SZGR 2.0 genes in this pathway
REACTOME NCAM SIGNALING FOR NEURITE OUT GROWTH	64	49	All SZGR 2.0 genes in this pathway
REACTOME L1CAM INTERACTIONS	86	62	All SZGR 2.0 genes in this pathway
REACTOME INTERACTION BETWEEN L1 AND ANKYRINS	23	19	All SZGR 2.0 genes in this pathway
REACTOME NEPHRIN INTERACTIONS	20	15	All SZGR 2.0 genes in this pathway
HOLLMANN APOPTOSIS VIA CD40 DN	267	178	All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS BASAL DN	455	304	All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL DN	460	312	All SZGR 2.0 genes in this pathway
CHOI ATL CHRONIC VS ACUTE DN	18	10	All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS UP	372	227	All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS DN	352	225	All SZGR 2.0 genes in this pathway
WANG CLIM2 TARGETS DN	186	114	All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION HSC UP	185	126	All SZGR 2.0 genes in this pathway
SENESE HDAC1 AND HDAC2 TARGETS DN	232	139	All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS UP	501	327	All SZGR 2.0 genes in this pathway
GRAHAM CML QUIESCENT VS NORMAL QUIESCENT DN	47	32	All SZGR 2.0 genes in this pathway
GRAHAM CML DIVIDING VS NORMAL QUIESCENT DN	95	57	All SZGR 2.0 genes in this pathway
GRAHAM NORMAL QUIESCENT VS NORMAL DIVIDING UP	66	47	All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA ANAPLASTIC DN	537	339	All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER DN	232	154	All SZGR 2.0 genes in this pathway
CHIARADONNA NEOPLASTIC TRANSFORMATION KRAS DN	142	95	All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN	1781	1082	All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 324 DN	149	93	All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA DN	394	258	All SZGR 2.0 genes in this pathway
HUMMERICH SKIN CANCER PROGRESSION DN	100	64	All SZGR 2.0 genes in this pathway
LIAO METASTASIS	539	324	All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 6HR DN	514	330	All SZGR 2.0 genes in this pathway
SCHAEFFER SOX9 TARGETS IN PROSTATE DEVELOPMENT DN	45	33	All SZGR 2.0 genes in this pathway
STARK PREFRONTAL CORTEX 22Q11 DELETION UP	195	138	All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215	893	528	All SZGR 2.0 genes in this pathway
KIM GERMINAL CENTER T HELPER DN	24	15	All SZGR 2.0 genes in this pathway
FERRANDO T ALL WITH MLL ENL FUSION UP	87	67	All SZGR 2.0 genes in this pathway
ROETH TERT TARGETS DN	8	7	All SZGR 2.0 genes in this pathway
VERHAAK AML WITH NPM1 MUTATED DN	246	180	All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK UP	244	151	All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE DN	261	183	All SZGR 2.0 genes in this pathway
GEORGANTAS HSC MARKERS	71	47	All SZGR 2.0 genes in this pathway
DAZARD UV RESPONSE CLUSTER G1	67	41	All SZGR 2.0 genes in this pathway
MAHAJAN RESPONSE TO IL1A UP	81	52	All SZGR 2.0 genes in this pathway
MONNIER POSTRADIATION TUMOR ESCAPE UP	393	244	All SZGR 2.0 genes in this pathway
GAVIN FOXP3 TARGETS CLUSTER P3	160	103	All SZGR 2.0 genes in this pathway
ZHENG BOUND BY FOXP3	491	310	All SZGR 2.0 genes in this pathway
MARTINEZ RB1 TARGETS UP	673	430	All SZGR 2.0 genes in this pathway
MARTINEZ TP53 TARGETS UP	602	364	All SZGR 2.0 genes in this pathway
MARTINEZ RB1 AND TP53 TARGETS UP	601	369	All SZGR 2.0 genes in this pathway
IWANAGA CARCINOGENESIS BY KRAS PTEN DN	353	226	All SZGR 2.0 genes in this pathway
CHENG IMPRINTED BY ESTRADIOL	110	68	All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN DN	249	165	All SZGR 2.0 genes in this pathway
BOQUEST STEM CELL CULTURED VS FRESH UP	425	298	All SZGR 2.0 genes in this pathway
WANG TUMOR INVASIVENESS UP	374	247	All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS DN	435	289	All SZGR 2.0 genes in this pathway
HINATA NFKB TARGETS FIBROBLAST UP	84	60	All SZGR 2.0 genes in this pathway
HAN SATB1 TARGETS DN	442	275	All SZGR 2.0 genes in this pathway
HSIAO HOUSEKEEPING GENES	389	245	All SZGR 2.0 genes in this pathway
CROONQUIST STROMAL STIMULATION UP	60	42	All SZGR 2.0 genes in this pathway
VALK AML CLUSTER 10	33	22	All SZGR 2.0 genes in this pathway
VALK AML WITH EVI1	25	15	All SZGR 2.0 genes in this pathway
YAMASHITA LIVER CANCER WITH EPCAM UP	53	25	All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA CLASSES DN	210	141	All SZGR 2.0 genes in this pathway
RAMPON ENRICHED LEARNING ENVIRONMENT EARLY DN	10	10	All SZGR 2.0 genes in this pathway
ZEMBUTSU SENSITIVITY TO VINBLASTINE	18	12	All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE G2 M	216	124	All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION	456	287	All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS SENESCENT	572	352	All SZGR 2.0 genes in this pathway
CHICAS RB1 TARGETS CONFLUENT	567	365	All SZGR 2.0 genes in this pathway
CHYLA CBFA2T3 TARGETS UP	387	225	All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN	1972	1213	All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 UP	430	288	All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 DN	918	550	All SZGR 2.0 genes in this pathway
MIYAGAWA TARGETS OF EWSR1 ETS FUSIONS UP	259	159	All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3	824	528	All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN	1080	713	All SZGR 2.0 genes in this pathway
WAKABAYASHI ADIPOGENESIS PPARG BOUND 8D	658	397	All SZGR 2.0 genes in this pathway
PLASARI TGFB1 SIGNALING VIA NFIC 1HR DN	106	77	All SZGR 2.0 genes in this pathway
DELACROIX RARG BOUND MEF	367	231	All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B	517	302	All SZGR 2.0 genes in this pathway
PECE MAMMARY STEM CELL UP	146	75	All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA family	Target position			miRNA ID	miRNA seq
miRNA family	UTR start	UTR end	Match method	miRNA ID	miRNA seq
miR-142-5p	172	178	m8	hsa-miR-142-5p	CAUAAAGUAGAAAGCACUAC
miR-153	321	327	1A	hsa-miR-153	UUGCAUAGUCACAAAAGUGA
miR-17-5p/20/93.mr/106/519.d	171	177	1A	hsa-miR-17-5p	CAAAGUGCUUACAGUGCAGGUAGU
				hsa-miR-20a^brain	UAAAGUGCUUAUAGUGCAGGUAG
				hsa-miR-106a	AAAAGUGCUUACAGUGCAGGUAGC
				hsa-miR-106b^SZ	UAAAGUGCUGACAGUGCAGAU
				hsa-miR-20b^SZ	CAAAGUGCUCAUAGUGCAGGUAG
				hsa-miR-519d	CAAAGUGCCUCCCUUUAGAGUGU
miR-219	951	957	1A	hsa-miR-219^brain	UGAUUGUCCAAACGCAAUUCU
miR-410	237	243	1A	hsa-miR-410	AAUAUAACACAGAUGGCCUGU
miR-448	321	327	1A	hsa-miR-448	UUGCAUAUGUAGGAUGUCCCAU

SZ: miRNAs which differentially expressed in brain cortex of schizophrenia patients comparing with control samples using microarray. Click here to see the list of SZ related miRNAs.
Brain: miRNAs which are expressed in brain based on miRNA microarray expression studies. Click here to see the list of brain related miRNAs.

Gene Page: SPTBN1