SZGR2

Summary ?

GeneID	5216
Symbol	PFN1
Synonyms	ALS18
Description	profilin 1
Reference	MIM:176610\|HGNC:HGNC:8881\|Ensembl:ENSG00000108518\|HPRD:01452\|Vega:OTTHUMG00000099396
Gene type	protein-coding
Map location	17p13.3
Pascal p-value	0.75
Sherlock p-value	0.516
Fetal beta	0.535
DMG	1 (# studies)
Support	STRUCTURAL PLASTICITY G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL

Gene in Data Sources

Gene set name	Method of gene set	Description	Info
CV:PGCnp	Genome-wide Association Study	GWAS
DMG:vanEijk_2014	Genome-wide DNA methylation analysis	This dataset includes 432 differentially methylated CpG sites corresponding to 391 unique transcripts between schizophrenia patients (n=260) and unaffected controls (n=250).	1
Network	Shortest path distance of core genes in the Human protein-protein interaction network	Contribution to shortest path in PPI network: 0.2331

Section I. Genetics and epigenetics annotation

Differentially methylated gene

Probe	Chromosome	Position	Nearest gene	P (dis)	Beta (dis)	FDR (dis)	Study
cg20693880	17	4699478	PFN1	0.002	2.552		DMG:vanEijk_2014

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.

No co-expressed genes in brain regions

Section III. Gene Ontology annotation

Molecular function	GO term	Evidence	Neuro keywords	PubMed ID
GO:0003779	actin binding	IEA		-
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0007010	cytoskeleton organization	IEA		-
GO:0030036	actin cytoskeleton organization	IEA		-
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005737	cytoplasm	IEA		-
GO:0015629	actin cytoskeleton	IEA		-

Section IV. Protein-protein interaction annotation

Interactors	Aliases B	Official full name B	Experimental	Source	PubMed ID
ACTA1	ACTA \| ASMA \| CFTD \| CFTD1 \| CFTDM \| MPFD \| NEM1 \| NEM2 \| NEM3	actin, alpha 1, skeletal muscle	-	HPRD	8413665
ACTB	PS1TP5BP1	actin, beta	-	HPRD,BioGRID	10411937
APBB1IP	INAG1 \| PREL1 \| RARP1 \| RIAM	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	RIAM interacts with Profilin.	BIND	15469846
APBB1IP	INAG1 \| PREL1 \| RARP1 \| RIAM	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	-	HPRD	15469846
C14orf1	ERG28 \| NET51	chromosome 14 open reading frame 1	Two-hybrid	BioGRID	16169070
C1orf103	FLJ11269 \| RIF1 \| RP11-96K19.1	chromosome 1 open reading frame 103	Two-hybrid	BioGRID	16169070
CRMP1	DPYSL1 \| DRP-1 \| DRP1	collapsin response mediator protein 1	Two-hybrid	BioGRID	16169070
DLG5	KIAA0583 \| LP-DLG \| P-DLG5 \| PDLG	discs, large homolog 5 (Drosophila)	Two-hybrid	BioGRID	16169070
DNM2	CMTDI1 \| CMTDIB \| DI-CMTB \| DYN2 \| DYNII	dynamin 2	-	HPRD	12419186
ENAH	ENA \| MENA \| NDPP1	enabled homolog (Drosophila)	-	HPRD,BioGRID	9473484
FMNL1	C17orf1 \| C17orf1B \| FHOD4 \| FMNL \| KW-13 \| MGC133052 \| MGC1894 \| MGC21878	formin-like 1	-	HPRD,BioGRID	10958683
GPHN	GEPH \| GPH \| GPHRYN \| KIAA1385	gephyrin	-	HPRD,BioGRID	9473484
LOC339344	-	hypothetical protein LOC339344	-	HPRD	15615774
MLLT4	AF-6 \| AF6 \| AFADIN \| FLJ34371 \| RP3-431P23.3	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	-	HPRD,BioGRID	10922060
NCK1	MGC12668 \| NCK \| NCKalpha	NCK adaptor protein 1	Reconstituted Complex	BioGRID	9694849
RHOQ	ARHQ \| RASL7A \| TC10 \| TC10A	ras homolog gene family, member Q	-	HPRD,BioGRID	10445846
TLE1	ESG \| ESG1 \| GRG1	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	Two-hybrid	BioGRID	16169070
UNC119	HRG4	unc-119 homolog (C. elegans)	Two-hybrid	BioGRID	16169070
VASP	-	vasodilator-stimulated phosphoprotein	-	HPRD,BioGRID	10882740
VIPR1	FLJ41949 \| HVR1 \| II \| PACAP-R-2 \| RDC1 \| VAPC1 \| VIPR \| VIRG \| VPAC1 \| VPCAP1R	vasoactive intestinal peptide receptor 1	Reconstituted Complex	BioGRID	10867004
WASF1	FLJ31482 \| KIAA0269 \| SCAR1 \| WAVE \| WAVE1	WAS protein family, member 1	-	HPRD,BioGRID	9843499
WASL	DKFZp779G0847 \| MGC48327 \| N-WASP \| NWASP	Wiskott-Aldrich syndrome-like	-	HPRD,BioGRID	9822597
WIPF2	WICH \| WIRE	WAS/WASL interacting protein family, member 2	-	HPRD	12213210
XPO6	EXP6 \| FLJ22519 \| KIAA0370 \| RANBP20	exportin 6	-	HPRD,BioGRID	14592989

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
KEGG REGULATION OF ACTIN CYTOSKELETON	216	144	All SZGR 2.0 genes in this pathway
BIOCARTA ECM PATHWAY	24	17	All SZGR 2.0 genes in this pathway
BIOCARTA RHO PATHWAY	32	23	All SZGR 2.0 genes in this pathway
SIG REGULATION OF THE ACTIN CYTOSKELETON BY RHO GTPASES	35	25	All SZGR 2.0 genes in this pathway
ST FAS SIGNALING PATHWAY	65	54	All SZGR 2.0 genes in this pathway
REACTOME DEVELOPMENTAL BIOLOGY	396	292	All SZGR 2.0 genes in this pathway
REACTOME RESPONSE TO ELEVATED PLATELET CYTOSOLIC CA2	89	56	All SZGR 2.0 genes in this pathway
REACTOME AXON GUIDANCE	251	188	All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY ROBO RECEPTOR	30	26	All SZGR 2.0 genes in this pathway
REACTOME HEMOSTASIS	466	331	All SZGR 2.0 genes in this pathway
REACTOME PLATELET ACTIVATION SIGNALING AND AGGREGATION	208	138	All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA UP	783	507	All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP	1382	904	All SZGR 2.0 genes in this pathway
HAHTOLA MYCOSIS FUNGOIDES SKIN UP	177	113	All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP	530	342	All SZGR 2.0 genes in this pathway
WANG BARRETTS ESOPHAGUS UP	51	27	All SZGR 2.0 genes in this pathway
MATTIOLI MGUS VS PCL	116	62	All SZGR 2.0 genes in this pathway
DAIRKEE TERT TARGETS UP	380	213	All SZGR 2.0 genes in this pathway
GRUETZMANN PANCREATIC CANCER UP	358	245	All SZGR 2.0 genes in this pathway
SPIELMAN LYMPHOBLAST EUROPEAN VS ASIAN UP	479	299	All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS	957	597	All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 6HR DN	514	330	All SZGR 2.0 genes in this pathway
GOTZMANN EPITHELIAL TO MESENCHYMAL TRANSITION DN	206	136	All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS	775	494	All SZGR 2.0 genes in this pathway
SAKAI TUMOR INFILTRATING MONOCYTES UP	27	19	All SZGR 2.0 genes in this pathway
ZUCCHI METASTASIS DN	44	29	All SZGR 2.0 genes in this pathway
LIN APC TARGETS	77	55	All SZGR 2.0 genes in this pathway
PENG GLUTAMINE DEPRIVATION DN	337	230	All SZGR 2.0 genes in this pathway
NADLER OBESITY UP	61	34	All SZGR 2.0 genes in this pathway
BANDRES RESPONSE TO CARMUSTIN MGMT 24HR DN	33	21	All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK UP	244	151	All SZGR 2.0 genes in this pathway
DAZARD UV RESPONSE CLUSTER G4	21	15	All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY UP	487	303	All SZGR 2.0 genes in this pathway
BANDRES RESPONSE TO CARMUSTIN WITHOUT MGMT 48HR DN	32	25	All SZGR 2.0 genes in this pathway
BANDRES RESPONSE TO CARMUSTIN MGMT 48HR DN	161	105	All SZGR 2.0 genes in this pathway
JIANG AGING CEREBRAL CORTEX DN	54	43	All SZGR 2.0 genes in this pathway
DURCHDEWALD SKIN CARCINOGENESIS DN	264	168	All SZGR 2.0 genes in this pathway
KYNG DNA DAMAGE BY GAMMA RADIATION	81	59	All SZGR 2.0 genes in this pathway
KYNG DNA DAMAGE UP	226	164	All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE UP	863	514	All SZGR 2.0 genes in this pathway
QI PLASMACYTOMA UP	259	185	All SZGR 2.0 genes in this pathway
ALONSO METASTASIS EMT UP	36	24	All SZGR 2.0 genes in this pathway
ALONSO METASTASIS UP	198	128	All SZGR 2.0 genes in this pathway
MUELLER PLURINET	299	189	All SZGR 2.0 genes in this pathway
CHANG CORE SERUM RESPONSE UP	212	128	All SZGR 2.0 genes in this pathway
SWEET LUNG CANCER KRAS UP	491	316	All SZGR 2.0 genes in this pathway
HSIAO HOUSEKEEPING GENES	389	245	All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE 2	277	172	All SZGR 2.0 genes in this pathway
HOSHIDA LIVER CANCER SUBCLASS S1	237	159	All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC	1103	714	All SZGR 2.0 genes in this pathway
KYNG RESPONSE TO H2O2 VIA ERCC6 DN	46	31	All SZGR 2.0 genes in this pathway
KIM ALL DISORDERS OLIGODENDROCYTE NUMBER CORR UP	756	494	All SZGR 2.0 genes in this pathway
KIM BIPOLAR DISORDER OLIGODENDROCYTE DENSITY CORR UP	682	440	All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3	824	528	All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 NOT SATB1 UP	344	215	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

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-140	117	124	1A,m8	hsa-miR-140^brain	AGUGGUUUUACCCUAUGGUAG
miR-182	112	118	1A	hsa-miR-182	UUUGGCAAUGGUAGAACUCACA
miR-19	38	44	m8	hsa-miR-19a	UGUGCAAAUCUAUGCAAAACUGA
miR-19	38	44	m8	hsa-miR-19b	UGUGCAAAUCCAUGCAAAACUGA
miR-96	112	118	1A	hsa-miR-96^brain	UUUGGCACUAGCACAUUUUUGC

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: PFN1