SZGR2

Summary ?

GeneID	1080
Symbol	CFTR
Synonyms	ABC35\|ABCC7\|CF\|CFTR/MRP\|MRP7\|TNR-CFTR\|dJ760C5.1
Description	cystic fibrosis transmembrane conductance regulator
Reference	MIM:602421\|HGNC:HGNC:1884\|Ensembl:ENSG00000001626\|HPRD:03883\|Vega:OTTHUMG00000023076
Gene type	protein-coding
Map location	7q31.2
Pascal p-value	0.115
Fetal beta	-0.251
eGene	Myers' cis & trans

Gene in Data Sources

Gene set name	Method of gene set	Description	Info
CV:PGCnp	Genome-wide Association Study	GWAS
PMID:cooccur	High-throughput literature-search	Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Expression	Meta-analysis of gene expression	P value: 1.469
Literature	High-throughput literature-search	Co-occurance with Schizophrenia keywords: schizophrenia,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: 0.0352

Section I. Genetics and epigenetics annotation

eQTL annotation

SNP ID	Chromosome	Position	eGene	Gene Entrez ID	pvalue	qvalue	TSS distance	eQTL type
rs10994209	chr10	61877705	CFTR	1080		0.01		trans
rs17714461	chr19	51425105	CFTR	1080		0.18		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.

No co-expressed genes in brain regions

Section III. Gene Ontology annotation

Molecular function	GO term	Evidence	Neuro keywords	PubMed ID
GO:0000166	nucleotide binding	IEA		-
GO:0005515	protein binding	IPI		11707463 \|15247260
GO:0005524	ATP binding	IEA		-
GO:0005524	ATP binding	TAS		2475911
GO:0005254	chloride channel activity	IEA		-
GO:0005260	channel-conductance-controlling ATPase activity	NAS		11707463
GO:0005216	ion channel activity	IEA		-
GO:0005224	ATP-binding and phosphorylation-dependent chloride channel activity	TAS		10581360
GO:0030165	PDZ domain binding	IDA		11707463
GO:0016887	ATPase activity	IEA		-
GO:0031404	chloride ion binding	IEA		-
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	IEA		-
Biological process	GO term	Evidence	Neuro keywords	PubMed ID
GO:0007585	respiratory gaseous exchange	TAS		9875854
GO:0006811	ion transport	IEA		-
Cellular component	GO term	Evidence	Neuro keywords	PubMed ID
GO:0016020	membrane	IEA		-
GO:0016021	integral to membrane	IEA		-
GO:0016323	basolateral plasma membrane	NAS		11707463
GO:0016324	apical plasma membrane	IDA		15247260

Section IV. Protein-protein interaction annotation

Interactors	Aliases B	Official full name B	Experimental	Source	PubMed ID
CANX	CNX \| FLJ26570 \| IP90 \| P90	calnexin	CFTR interacts with CANX. This interaction was modeled on a demonstrated interaction between human CFTR and hamster CANX.	BIND	15105504
CANX	CNX \| FLJ26570 \| IP90 \| P90	calnexin	CFTR interacts with CANX.	BIND	7513695
CFTR	ABC35 \| ABCC7 \| CF \| CFTR/MRP \| MRP7 \| TNR-CFTR \| dJ760C5.1	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	-	HPRD,BioGRID	11051556
CFTR	ABC35 \| ABCC7 \| CF \| CFTR/MRP \| MRP7 \| TNR-CFTR \| dJ760C5.1	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	CFTR forms a homodimer	BIND	12933354
CLCN3	CLC3 \| ClC-3	chloride channel 3	Reconstituted Complex	BioGRID	12471024
DNAJA1	DJ-2 \| DjA1 \| HDJ2 \| HSDJ \| HSJ2 \| HSPF4 \| hDJ-2	DnaJ (Hsp40) homolog, subfamily A, member 1	-	HPRD,BioGRID	10075921
DNAJB1	HSPF1 \| Hdj1 \| Hsp40 \| Sis1	DnaJ (Hsp40) homolog, subfamily B, member 1	Affinity Capture-Western	BioGRID	10075921
DNAJC5	CSP \| DKFZp434N1429 \| DKFZp761N1221 \| DNAJC5A \| FLJ00118 \| FLJ13070	DnaJ (Hsp40) homolog, subfamily C, member 5	Csp1 interacts with CFTR.	BIND	12039948
DNAJC5	CSP \| DKFZp434N1429 \| DKFZp761N1221 \| DNAJC5A \| FLJ00118 \| FLJ13070	DnaJ (Hsp40) homolog, subfamily C, member 5	in vitro	BioGRID	12039948
DNAJC5	CSP \| DKFZp434N1429 \| DKFZp761N1221 \| DNAJC5A \| FLJ00118 \| FLJ13070	DnaJ (Hsp40) homolog, subfamily C, member 5	Csp2 interacts with CFTR.	BIND	12039948
EZR	CVIL \| CVL \| DKFZp762H157 \| FLJ26216 \| MGC1584 \| VIL2	ezrin	-	HPRD,BioGRID	10893422
GOPC	CAL \| FIG \| GOPC1 \| PIST \| dJ94G16.2	golgi associated PDZ and coiled-coil motif containing	-	HPRD,BioGRID	11707463
HSPA8	HSC54 \| HSC70 \| HSC71 \| HSP71 \| HSP73 \| HSPA10 \| LAP1 \| MGC131511 \| MGC29929 \| NIP71	heat shock 70kDa protein 8	Affinity Capture-Western	BioGRID	10075921
KCNJ1	KIR1.1 \| ROMK \| ROMK1	potassium inwardly-rectifying channel, subfamily J, member 1	Affinity Capture-Western	BioGRID	14604981
PDZD3	FLJ22756 \| IKEPP \| PDZK2	PDZ domain containing 3	Reconstituted Complex	BioGRID	12615054
PDZK1	CAP70 \| CLAMP \| NHERF3 \| PDZD1	PDZ domain containing 1	-	HPRD,BioGRID	11051556 \|12471024 \|12615054
PRKAA1	AMPK \| AMPKa1 \| MGC33776 \| MGC57364	protein kinase, AMP-activated, alpha 1 catalytic subunit	-	HPRD,BioGRID	10862786
PRKAR2A	MGC3606 \| PKR2 \| PRKAR2	protein kinase, cAMP-dependent, regulatory, type II, alpha	PKA II interacts with and phosphorylates CFTR.	BIND	10799517
PRKCE	MGC125656 \| MGC125657 \| PKCE \| nPKC-epsilon	protein kinase C, epsilon	-	HPRD,BioGRID	11956211
SLC4A7	DKFZp686H168 \| NBC2 \| NBC3 \| SBC2 \| SLC4A6	solute carrier family 4, sodium bicarbonate cotransporter, member 7	-	HPRD,BioGRID	12403779
SLC4A8	DKFZp761B2318 \| FLJ46462 \| NBC3	solute carrier family 4, sodium bicarbonate cotransporter, member 8	-	HPRD,BioGRID	12403779
SLC9A3R1	EBP50 \| NHERF \| NHERF1 \| NPHLOP2	solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1	First PDZ domain of EBP50 binds to the C-terminus of CFTR.	BIND	9671706 \|9677412 \|10852925 \|12621035
SLC9A3R1	EBP50 \| NHERF \| NHERF1 \| NPHLOP2	solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1	-	HPRD	9613608 \|9677412 \|10852925
SLC9A3R1	EBP50 \| NHERF \| NHERF1 \| NPHLOP2	solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1	Affinity Capture-Western in vitro in vivo Reconstituted Complex	BioGRID	9613608 \|9671706 \|9677412 \|10852925 \|12471024 \|12615054
SLC9A3R2	E3KARP \| MGC104639 \| NHE3RF2 \| NHERF-2 \| NHERF2 \| OCTS2 \| SIP-1 \| SIP1 \| TKA-1	solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2	-	HPRD,BioGRID	9671706 \|10893422
SLC9A3R2	E3KARP \| MGC104639 \| NHE3RF2 \| NHERF-2 \| NHERF2 \| OCTS2 \| SIP-1 \| SIP1 \| TKA-1	solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2	The second PDZ domain of E3KARP interacts with the C-terminal PDZ binding motif of CFTR.	BIND	10893422
SLC9A6	KIAA0267 \| MRSA \| NHE6	solute carrier family 9 (sodium/hydrogen exchanger), member 6	in vivo	BioGRID	11707463
SNAP23	HsT17016 \| SNAP23A \| SNAP23B	synaptosomal-associated protein, 23kDa	-	HPRD,BioGRID	12209004
STX1A	HPC-1 \| STX1 \| p35-1	syntaxin 1A (brain)	Syntaxin 1A interacts with CFTR.	BIND	9384384 \|12446681
STX1A	HPC-1 \| STX1 \| p35-1	syntaxin 1A (brain)	-	HPRD,BioGRID	9384384

Section V. Pathway annotation

Pathway name	Pathway size	# SZGR 2.0 genes in pathway	Info
KEGG ABC TRANSPORTERS	44	29	All SZGR 2.0 genes in this pathway
KEGG VIBRIO CHOLERAE INFECTION	56	32	All SZGR 2.0 genes in this pathway
BIOCARTA CFTR PATHWAY	12	11	All SZGR 2.0 genes in this pathway
REACTOME ABC FAMILY PROTEINS MEDIATED TRANSPORT	34	21	All SZGR 2.0 genes in this pathway
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES	413	270	All SZGR 2.0 genes in this pathway
WATANABE RECTAL CANCER RADIOTHERAPY RESPONSIVE UP	108	67	All SZGR 2.0 genes in this pathway
WATANABE COLON CANCER MSI VS MSS DN	81	42	All SZGR 2.0 genes in this pathway
SENGUPTA NASOPHARYNGEAL CARCINOMA WITH LMP1 UP	408	247	All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE LIVE UP	485	293	All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER ADVANCED VS EARLY DN	138	70	All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER EARLY UP	430	232	All SZGR 2.0 genes in this pathway
ZHOU INFLAMMATORY RESPONSE LPS UP	431	237	All SZGR 2.0 genes in this pathway
MIDORIKAWA AMPLIFIED IN LIVER CANCER	55	38	All SZGR 2.0 genes in this pathway
RASHI RESPONSE TO IONIZING RADIATION 2	127	92	All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 6HR UP	176	115	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 SUZ12 TARGETS	1038	678	All SZGR 2.0 genes in this pathway
BENPORATH EED TARGETS	1062	725	All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST UP	398	262	All SZGR 2.0 genes in this pathway
AFFAR YY1 TARGETS UP	214	133	All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 UP	428	266	All SZGR 2.0 genes in this pathway
YAUCH HEDGEHOG SIGNALING PARACRINE DN	264	159	All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP	1305	895	All SZGR 2.0 genes in this pathway
WAGSCHAL EHMT2 TARGETS UP	13	7	All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM A	182	108	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-101	1508	1514	1A	hsa-miR-101	UACAGUACUGUGAUAACUGAAG
miR-144	1508	1514	1A	hsa-miR-144	UACAGUAUAGAUGAUGUACUAG
miR-377	1549	1555	m8	hsa-miR-377	AUCACACAAAGGCAACUUUUGU

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: CFTR