SZGR2

Summary ?

GeneID	5371
Symbol	PML
Synonyms	MYL\|PP8675\|RNF71\|TRIM19
Description	promyelocytic leukemia
Reference	MIM:102578\|HGNC:HGNC:9113\|Ensembl:ENSG00000140464\|HPRD:00023\|Vega:OTTHUMG00000137607
Gene type	protein-coding
Map location	15q22
Pascal p-value	0.329
TADA p-value	0.019
Fetal beta	-0.311
Support	CompositeSet

Gene in Data Sources

Gene set name	Method of gene set	Description	Info
CV:PGCnp	Genome-wide Association Study	GWAS
DNM:Xu_2012	Whole Exome Sequencing analysis	De novo mutations of 4 genes were identified by exome sequencing of 795 samples in this study
PMID:cooccur	High-throughput literature-search	Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature	High-throughput literature-search	Co-occurance with Schizophrenia keywords: schizophrenia,schizophrenics,schizophrenias	Click to show details
Network	Shortest path distance of core genes in the Human protein-protein interaction network	Contribution to shortest path in PPI network: 0.0455

Section I. Genetics and epigenetics annotation

DNM table

Gene	Chromosome	Position	Ref	Alt	Transcript	AA change	Mutation type	Sift	CG46	Trait	Study
PML	chr15	74290439	C	T	NM_002675 NM_033238 NM_033239 NM_033240 NM_033244 NM_033246 NM_033247 NM_033249 NM_033250	p.75T>M p.75T>M p.75T>M p.75T>M p.75T>M p.75T>M p.75T>M p.75T>M p.75T>M	missense missense missense missense missense missense missense missense missense			Schizophrenia	DNM:Xu_2012

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:0003676	nucleic acid binding	NAS		1652369
GO:0003677	DNA binding	IEA		-
GO:0005515	protein binding	IEA		-
GO:0005515	protein binding	IPI		9294197 \|9671405 \|11259576 \|11432836 \|12915590 \|14976184 \|15626733 \|16915281
GO:0008270	zinc ion binding	IEA		-
GO:0008270	zinc ion binding	NAS		1652369
GO:0016564	transcription repressor activity	IDA		11432836
GO:0032183	SUMO binding	IPI		17081985
GO:0046872	metal ion binding	IEA		-
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0001666	response to hypoxia	IDA		16915281
GO:0006355	regulation of transcription, DNA-dependent	IEA		-
GO:0006461	protein complex assembly	IDA		12915590
GO:0006281	DNA repair	NAS		12773567
GO:0006917	induction of apoptosis	IMP		16912307
GO:0010212	response to ionizing radiation	IDA		12773567
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	ISS		-
GO:0016481	negative regulation of transcription	IDA		9448006
GO:0016525	negative regulation of angiogenesis	IMP		16915281
GO:0042771	DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis	ISS		-
GO:0030308	negative regulation of cell growth	IDA		9448006
GO:0030578	PML body organization	IMP		17081985
GO:0044419	interspecies interaction between organisms	IEA		-
GO:0051457	maintenance of protein location in nucleus	IDA		17332504
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0005622	intracellular	IEA		-
GO:0005626	insoluble fraction	IDA		12915590
GO:0005634	nucleus	IEA		-
GO:0005654	nucleoplasm	IDA		12915590
GO:0005730	nucleolus	IDA		15195100
GO:0005737	cytoplasm	IDA		16778193
GO:0005737	cytoplasm	IEA		-
GO:0016605	PML body	IDA		9448006 \|17081985
GO:0016605	PML body	IDA		10910364

Section IV. Protein-protein interaction annotation

Interactors	Aliases B	Official full name B	Experimental	Source	PubMed ID
ANKRD2	ARPP \| MGC104314	ankyrin repeat domain 2 (stretch responsive muscle)	-	HPRD,BioGRID	15136035
ARNT	HIF-1beta \| HIF1B \| HIF1BETA \| TANGO \| bHLHe2	aryl hydrocarbon receptor nuclear translocator	-	HPRD,BioGRID	12354770
ATF2	CRE-BP1 \| CREB2 \| HB16 \| MGC111558 \| TREB7	activating transcription factor 2	Reconstituted Complex	BioGRID	9671405
ATR	FRP1 \| MEC1 \| SCKL \| SCKL1	ataxia telangiectasia and Rad3 related	ATR phosphorylates PML.	BIND	15195100
AURKA	AIK \| ARK1 \| AURA \| AURORA2 \| BTAK \| MGC34538 \| STK15 \| STK6 \| STK7	aurora kinase A	PML3 interacts with Aurora A.	BIND	15749021
BCL6	BCL5 \| BCL6A \| LAZ3 \| ZBTB27 \| ZNF51	B-cell CLL/lymphoma 6	Two-hybrid	BioGRID	11175338
CCNT1	CCNT \| CYCT1	cyclin T1	-	HPRD,BioGRID	12727882
CHFR	FLJ10796 \| FLJ33629 \| RNF116 \| RNF196	checkpoint with forkhead and ring finger domains	CHFR interacts an unspecified isoform of PML.	BIND	15467728
CHFR	FLJ10796 \| FLJ33629 \| RNF116 \| RNF196	checkpoint with forkhead and ring finger domains	-	HPRD,BioGRID	15467728
CREBBP	CBP \| KAT3A \| RSTS	CREB binding protein	-	HPRD	10077561 \|10610177 \|12142048 \|12234245 \|12622724
CREBBP	CBP \| KAT3A \| RSTS	CREB binding protein	Affinity Capture-Western Reconstituted Complex	BioGRID	10077561 \|10610177 \|12622724
DAXX	BING2 \| DAP6 \| EAP1 \| MGC126245 \| MGC126246	death-domain associated protein	-	HPRD	10525530 \|10669754 \|10684855 \|12595526
DAXX	BING2 \| DAP6 \| EAP1 \| MGC126245 \| MGC126246	death-domain associated protein	Affinity Capture-Western Co-localization Two-hybrid	BioGRID	10525530 \|10669754 \|10684855 \|11244500
EIF4E	CBP \| EIF4E1 \| EIF4EL1 \| EIF4F \| MGC111573	eukaryotic translation initiation factor 4E	-	HPRD,BioGRID	11500381
FOS	AP-1 \| C-FOS	v-fos FBJ murine osteosarcoma viral oncogene homolog	-	HPRD,BioGRID	9671405
GATA2	MGC2306 \| NFE1B	GATA binding protein 2	-	HPRD,BioGRID	10938104
HDAC1	DKFZp686H12203 \| GON-10 \| HD1 \| RPD3 \| RPD3L1	histone deacetylase 1	-	HPRD,BioGRID	11259576 \|11430826
HDAC2	RPD3 \| YAF1	histone deacetylase 2	-	HPRD,BioGRID	11259576 \|11430826
HDAC3	HD3 \| RPD3 \| RPD3-2	histone deacetylase 3	Affinity Capture-Western Reconstituted Complex	BioGRID	11259576
HHEX	HEX \| HMPH \| HOX11L-PEN \| PRH \| PRHX	hematopoietically expressed homeobox	-	HPRD,BioGRID	10597310
JUN	AP-1 \| AP1 \| c-Jun	jun oncogene	-	HPRD,BioGRID	9671405
MAPK11	P38B \| P38BETA2 \| PRKM11 \| SAPK2 \| SAPK2B \| p38-2 \| p38Beta	mitogen-activated protein kinase 11	Affinity Capture-Western Reconstituted Complex	BioGRID	15273249
MAPK14	CSBP1 \| CSBP2 \| CSPB1 \| EXIP \| Mxi2 \| PRKM14 \| PRKM15 \| RK \| SAPK2A \| p38 \| p38ALPHA	mitogen-activated protein kinase 14	-	HPRD	15273249
MDM2	HDMX \| MGC71221 \| hdm2	Mdm2 p53 binding protein homolog (mouse)	PML interacts with Mdm2.	BIND	15195100
MDM2	HDMX \| MGC71221 \| hdm2	Mdm2 p53 binding protein homolog (mouse)	-	HPRD,BioGRID	12759344 \|12915590 \|14507915 \|15195100
MXD1	MAD \| MAD1 \| MGC104659	MAX dimerization protein 1	-	HPRD	11430826
MYB	Cmyb \| c-myb \| c-myb_CDS \| efg	v-myb myeloblastosis viral oncogene homolog (avian)	-	HPRD,BioGRID	15194430
MYC	bHLHe39 \| c-Myc	v-myc myelocytomatosis viral oncogene homolog (avian)	Myc interacts with PML. This interaction was modelled on a demonstrated interaction between mouse Myc and human PML.	BIND	15735755
NCOR1	KIAA1047 \| MGC104216 \| N-CoR \| TRAC1 \| hCIT529I10 \| hN-CoR	nuclear receptor co-repressor 1	-	HPRD,BioGRID	11430826
NCOR2	CTG26 \| SMRT \| SMRTE \| SMRTE-tau \| TNRC14 \| TRAC-1 \| TRAC1	nuclear receptor co-repressor 2	-	HPRD,BioGRID	11585900
NR4A1	GFRP1 \| HMR \| MGC9485 \| N10 \| NAK-1 \| NGFIB \| NP10 \| NUR77 \| TR3	nuclear receptor subfamily 4, group A, member 1	-	HPRD,BioGRID	12032831
PAWR	PAR4 \| Par-4	PRKC, apoptosis, WT1, regulator	-	HPRD	12717420
PML	MYL \| PP8675 \| RNF71 \| TRIM19	promyelocytic leukemia	Far Western	BioGRID	10669754
RARA	NR1B1 \| RAR	retinoic acid receptor, alpha	-	HPRD	12935927
RARA	NR1B1 \| RAR	retinoic acid receptor, alpha	Reconstituted Complex	BioGRID	10610177
RB1	OSRC \| RB \| p105-Rb \| pRb \| pp110	retinoblastoma 1	-	HPRD,BioGRID	9448006
RELA	MGC131774 \| NFKB3 \| p65	v-rel reticuloendotheliosis viral oncogene homolog A (avian)	-	HPRD,BioGRID	12540841
RPL11	GIG34	ribosomal protein L11	PML interacts with L11 in the nucleolus.	BIND	15195100
RPL11	GIG34	ribosomal protein L11	Affinity Capture-Western Reconstituted Complex	BioGRID	15195100
RXRA	FLJ00280 \| FLJ00318 \| FLJ16020 \| FLJ16733 \| MGC102720 \| NR2B1	retinoid X receptor, alpha	Reconstituted Complex	BioGRID	10610177
SENP2	AXAM2 \| DKFZp762A2316 \| KIAA1331 \| SMT3IP2	SUMO1/sentrin/SMT3 specific peptidase 2	-	HPRD	12419228
SIN3A	DKFZp434K2235 \| FLJ90319 \| KIAA0700	SIN3 homolog A, transcription regulator (yeast)	Affinity Capture-Western Reconstituted Complex	BioGRID	11430826
SKI	SKV	v-ski sarcoma viral oncogene homolog (avian)	-	HPRD,BioGRID	11430826
SMAD2	JV18 \| JV18-1 \| MADH2 \| MADR2 \| MGC22139 \| MGC34440 \| hMAD-2 \| hSMAD2	SMAD family member 2	-	HPRD,BioGRID	15356634
SMAD2	JV18 \| JV18-1 \| MADH2 \| MADR2 \| MGC22139 \| MGC34440 \| hMAD-2 \| hSMAD2	SMAD family member 2	cPML interacts with Smad2.	BIND	15356634
SMAD3	DKFZp586N0721 \| DKFZp686J10186 \| HSPC193 \| HsT17436 \| JV15-2 \| MADH3 \| MGC60396	SMAD family member 3	cPML interacts with Smad3.	BIND	15356634
SMAD3	DKFZp586N0721 \| DKFZp686J10186 \| HSPC193 \| HsT17436 \| JV15-2 \| MADH3 \| MGC60396	SMAD family member 3	-	HPRD,BioGRID	15356634
SP1	-	Sp1 transcription factor	-	HPRD,BioGRID	9819401
SRF	MCM1	serum response factor (c-fos serum response element-binding transcription factor)	-	HPRD,BioGRID	12622724
STAT3	APRF \| FLJ20882 \| HIES \| MGC16063	signal transducer and activator of transcription 3 (acute-phase response factor)	-	HPRD,BioGRID	12506013
SUMO1	DAP-1 \| GMP1 \| OFC10 \| PIC1 \| SENP2 \| SMT3 \| SMT3C \| SMT3H3 \| SUMO-1 \| UBL1	SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)	-	HPRD	8806687 \|11080164
SUMO1	DAP-1 \| GMP1 \| OFC10 \| PIC1 \| SENP2 \| SMT3 \| SMT3C \| SMT3H3 \| SUMO-1 \| UBL1	SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae)	Affinity Capture-Western in vitro in vivo Two-hybrid	BioGRID	8806687 \|9452416 \|11948183
SUMO2	HSMT3 \| MGC117191 \| SMT3B \| SMT3H2	SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae)	-	HPRD	9452416
TDG	-	thymine-DNA glycosylase	-	HPRD,BioGRID	15569683
TGFBR1	AAT5 \| ACVRLK4 \| ALK-5 \| ALK5 \| LDS1A \| LDS2A \| SKR4 \| TGFR-1	transforming growth factor, beta receptor 1	-	HPRD	15356634
TGFBR1	AAT5 \| ACVRLK4 \| ALK-5 \| ALK5 \| LDS1A \| LDS2A \| SKR4 \| TGFR-1	transforming growth factor, beta receptor 1	cPML interacts with T-beta-RI.	BIND	15356634
TGFBR2	AAT3 \| FAA3 \| LDS1B \| LDS2B \| MFS2 \| RIIC \| TAAD2 \| TGFR-2 \| TGFbeta-RII	transforming growth factor, beta receptor II (70/80kDa)	cPML interacts with T-beta-RII.	BIND	15356634
TGFBR2	AAT3 \| FAA3 \| LDS1B \| LDS2B \| MFS2 \| RIIC \| TAAD2 \| TGFR-2 \| TGFbeta-RII	transforming growth factor, beta receptor II (70/80kDa)	-	HPRD	15356634
THRA	AR7 \| EAR7 \| ERB-T-1 \| ERBA \| ERBA1 \| MGC000261 \| MGC43240 \| NR1A1 \| THRA1 \| THRA2 \| c-ERBA-1	thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)	-	HPRD	10610177
TOPBP1	TOP2BP1	topoisomerase (DNA) II binding protein 1	-	HPRD,BioGRID	12773567
TP53	FLJ92943 \| LFS1 \| TRP53 \| p53	tumor protein p53	Affinity Capture-Western Reconstituted Complex	BioGRID	11025664 \|11080164 \|12915590
TP53	FLJ92943 \| LFS1 \| TRP53 \| p53	tumor protein p53	-	HPRD	11025664 \|11080164 \|11704853
TP73	P73	tumor protein p73	-	HPRD	11832207
TRIM24	PTC6 \| RNF82 \| TF1A \| TIF1 \| TIF1A \| TIF1ALPHA \| hTIF1	tripartite motif-containing 24	-	HPRD,BioGRID	10610177
TRIM27	RFP \| RNF76	tripartite motif-containing 27	-	HPRD,BioGRID	9570750
TRIM69	HSD34 \| RNF36 \| Trif	tripartite motif-containing 69	-	HPRD,BioGRID	12837286
UBE2I	C358B7.1 \| P18 \| UBC9	ubiquitin-conjugating enzyme E2I (UBC9 homolog, yeast)	Biochemical Activity	BioGRID	18691969
ZBTB16	PLZF \| ZNF145	zinc finger and BTB domain containing 16	-	HPRD,BioGRID	9294197 \|11175338
ZFYVE9	MADHIP \| NSP \| SARA \| SMADIP	zinc finger, FYVE domain containing 9	-	HPRD,BioGRID	15356634
ZFYVE9	MADHIP \| NSP \| SARA \| SMADIP	zinc finger, FYVE domain containing 9	cPML interacts with SARA.	BIND	15356634

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
KEGG UBIQUITIN MEDIATED PROTEOLYSIS	138	98	All SZGR 2.0 genes in this pathway
KEGG PATHWAYS IN CANCER	328	259	All SZGR 2.0 genes in this pathway
KEGG ACUTE MYELOID LEUKEMIA	60	47	All SZGR 2.0 genes in this pathway
BIOCARTA PML PATHWAY	17	12	All SZGR 2.0 genes in this pathway
PID P73PATHWAY	79	59	All SZGR 2.0 genes in this pathway
PID MTOR 4PATHWAY	69	55	All SZGR 2.0 genes in this pathway
PID MYC PATHWAY	25	22	All SZGR 2.0 genes in this pathway
PID P53 DOWNSTREAM PATHWAY	137	94	All SZGR 2.0 genes in this pathway
PID TAP63 PATHWAY	54	40	All SZGR 2.0 genes in this pathway
PID TGFBR PATHWAY	55	38	All SZGR 2.0 genes in this pathway
REACTOME INTERFERON GAMMA SIGNALING	63	48	All SZGR 2.0 genes in this pathway
REACTOME INTERFERON SIGNALING	159	116	All SZGR 2.0 genes in this pathway
REACTOME IMMUNE SYSTEM	933	616	All SZGR 2.0 genes in this pathway
REACTOME CYTOKINE SIGNALING IN IMMUNE SYSTEM	270	204	All SZGR 2.0 genes in this pathway
OSMAN BLADDER CANCER DN	406	230	All SZGR 2.0 genes in this pathway
GARGALOVIC RESPONSE TO OXIDIZED PHOSPHOLIPIDS YELLOW DN	23	15	All SZGR 2.0 genes in this pathway
LINDGREN BLADDER CANCER CLUSTER 3 DN	229	142	All SZGR 2.0 genes in this pathway
MARKEY RB1 CHRONIC LOF UP	115	78	All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN UP	1142	669	All SZGR 2.0 genes in this pathway
VETTER TARGETS OF PRKCA AND ETS1 UP	16	8	All SZGR 2.0 genes in this pathway
KLEIN TARGETS OF BCR ABL1 FUSION	45	34	All SZGR 2.0 genes in this pathway
OXFORD RALB TARGETS DN	9	6	All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS UP	769	437	All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS UP	1037	673	All SZGR 2.0 genes in this pathway
RICKMAN METASTASIS DN	261	155	All SZGR 2.0 genes in this pathway
SHIN B CELL LYMPHOMA CLUSTER 7	27	22	All SZGR 2.0 genes in this pathway
ZHANG RESPONSE TO IKK INHIBITOR AND TNF UP	223	140	All SZGR 2.0 genes in this pathway
MORI IMMATURE B LYMPHOCYTE UP	53	35	All SZGR 2.0 genes in this pathway
DER IFN ALPHA RESPONSE UP	74	48	All SZGR 2.0 genes in this pathway
SMITH TERT TARGETS DN	87	69	All SZGR 2.0 genes in this pathway
DER IFN GAMMA RESPONSE UP	71	45	All SZGR 2.0 genes in this pathway
NEMETH INFLAMMATORY RESPONSE LPS UP	88	64	All SZGR 2.0 genes in this pathway
KUMAR TARGETS OF MLL AF9 FUSION	405	264	All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 20HR UP	240	152	All SZGR 2.0 genes in this pathway
SU PANCREAS	54	30	All SZGR 2.0 genes in this pathway
DEBIASI APOPTOSIS BY REOVIRUS INFECTION UP	314	201	All SZGR 2.0 genes in this pathway
BROWNE INTERFERON RESPONSIVE GENES	68	44	All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP	1691	1088	All SZGR 2.0 genes in this pathway
ZHU CMV ALL UP	120	89	All SZGR 2.0 genes in this pathway
TSENG IRS1 TARGETS DN	135	88	All SZGR 2.0 genes in this pathway
LEE CALORIE RESTRICTION NEOCORTEX DN	88	58	All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 12HR UP	111	68	All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1	419	273	All SZGR 2.0 genes in this pathway
ZHU CMV 8 HR UP	47	39	All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR UP	953	554	All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR UP	783	442	All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED	1229	713	All SZGR 2.0 genes in this pathway
MARSON BOUND BY E2F4 UNSTIMULATED	728	415	All SZGR 2.0 genes in this pathway
FOSTER TOLERANT MACROPHAGE DN	409	268	All SZGR 2.0 genes in this pathway
HELLER SILENCED BY METHYLATION UP	282	183	All SZGR 2.0 genes in this pathway
AMUNDSON POOR SURVIVAL AFTER GAMMA RADIATION 2G	171	96	All SZGR 2.0 genes in this pathway
SMID BREAST CANCER LUMINAL B DN	564	326	All SZGR 2.0 genes in this pathway
SMID BREAST CANCER BASAL UP	648	398	All SZGR 2.0 genes in this pathway
WANG TUMOR INVASIVENESS DN	210	128	All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP	323	240	All SZGR 2.0 genes in this pathway
MIKKELSEN ES ICP WITH H3K4ME3	718	401	All SZGR 2.0 genes in this pathway
MIKKELSEN NPC ICP WITH H3K4ME3	445	257	All SZGR 2.0 genes in this pathway
YIH RESPONSE TO ARSENITE C5	10	7	All SZGR 2.0 genes in this pathway
DUAN PRDM5 TARGETS	79	52	All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3	824	528	All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B	517	302	All SZGR 2.0 genes in this pathway
BOSCO INTERFERON INDUCED ANTIVIRAL MODULE	78	48	All SZGR 2.0 genes in this pathway

Gene Page: PML