Gene Page:CFTR

概括?
基因 1080
象征 CFTR
Synonyms ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1
Description 囊性纤维化跨膜电导调节剂
参考 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 迈尔斯的顺式和跨性别

数据源中的基因
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.
表达 基因表达的荟萃分析 Pvalue: 1.469
文学 High-throughput literature-search 与精神分裂症关键词共同存在：精神分裂症，精神分裂症 点击to show details
Network 人蛋白蛋白质相互作用网络中核心基因的最短路径距离 Contribution to shortest path in PPI network: 0.0352

第一节遗传学和表观遗传学注释

@eQTL annotation

SNP ID Chromosome Position eGene Gene Entrez ID pvalue qvalue TSS distance EQTL类型
RS10994209 chr10 61877705 CFTR 1080 0.01 trans
rs17714461 chr19 51425105 CFTR 1080 0.18 trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

脚注：
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)

脚注：
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.

大脑区域没有共表达基因


Section III. Gene Ontology annotation

分子功能 去term Evidence Neuro keywords PubMed ID
GO:0000166 核苷酸结合 IEA -
GO:0005515 蛋白质结合 新闻学会 11707463|15247260
GO:0005524 ATP binding IEA -
GO:0005524 ATP binding 塔斯 2475911
去：0005254 chloride channel activity IEA -
去：0005260 channel-conductance-controlling ATPase activity NAS 11707463
去：0005216 离子通道活动 IEA -
去：0005224 ATP-binding and phosphorylation-dependent chloride channel activity 塔斯 10581360
GO:0030165 PDZ domain binding IDA 11707463
去:0016887 ATPase activity IEA -
GO：0031404 chloride ion binding IEA -
GO：0042626 ATPase活性，与物质的跨膜运动耦合 IEA -
生物过程 去term Evidence Neuro keywords PubMed ID
去：0007585 呼吸气态交换 塔斯 9875854
GO:0006811 ion transport IEA -
Cellular component 去term Evidence Neuro keywords PubMed ID
去：0016020 膜 IEA -
GO：0016021 integral to membrane IEA -
GO:0016323 basolateral plasma membrane NAS 11707463
GO:0016324 apical plasma membrane IDA 15247260

第四节。蛋白质蛋白相互作用注释

互动者 Aliases B Official full name B Experimental 资源 PubMed ID
CANX CNX | FLJ26570 | IP90 | P90 calnexin CFTR与CANX相互作用。This interaction was modeled on a demonstrated interaction between human CFTR and hamster CANX. BIND 15105504
CANX CNX | FLJ26570 | IP90 | P90 calnexin CFTR与CANX相互作用。 BIND 7513695
CFTR ABC35 | ABCC7 | CF | CFTR/MRP | MRP7 | TNR-CFTR | dJ760C5.1 囊性纤维化跨膜电导调节剂(ATP-binding cassette sub-family C, member 7) - HPRD,BioGRID 11051556
CFTR ABC35 | ABCC7 | CF | CFTR/MRP | MRP7 | TNR-CFTR | dJ760C5.1 囊性纤维化跨膜电导调节剂(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）同源物，亚家族A，成员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与CFTR相互作用。 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 埃兹林 - 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 蛋白激酶C，Epsilon - HPRD,BioGRID 11956211
SLC4A7 DKFZp686H168 | NBC2 | NBC3 | SBC2 | SLC4A6 溶质载体家族4，碳酸氢钠共转运蛋白，成员7 - HPRD,BioGRID 12403779
SLC4A8 DKFZp761B2318 | FLJ46462 | NBC3 溶质载体家族4，碳酸氢钠共转运蛋白，成员8 - HPRD,BioGRID 12403779
SLC9A3R1 EBP50 |nherf |nherf1 |nphlop2 溶质载体家族9（钠/氢交换器），成员3调节器1 First PDZ domain of EBP50 binds to the C-terminus of CFTR. BIND 9671706|9677412
|10852925|12621035
SLC9A3R1 EBP50 |nherf |nherf1 |nphlop2 溶质载体家族9（钠/氢交换器），成员3调节器1 - HPRD 9613608|9677412
|10852925
SLC9A3R1 EBP50 |nherf |nherf1 |nphlop2 溶质载体家族9（钠/氢交换器），成员3调节器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 溶质载体家族9（钠/氢交换器），成员3调节剂2 - HPRD,BioGRID 9671706|10893422
SLC9A3R2 e3karp |MGC104639 |NHE3RF2 |nherf-2 |nherf2 |OCTS2 |SIP-1 |SIP1 |TKA-1 溶质载体家族9（钠/氢交换器），成员3调节剂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 突触小体相关蛋白，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


V.途径注释

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG ABC转运蛋白 44 29 该途径中的所有SZGR 2.0基因
KEGG霍乱弧菌感染 56 32 该途径中的所有SZGR 2.0基因
BIOCARTA CFTR PATHWAY 12 11 该途径中的所有SZGR 2.0基因
REACTOME ABC FAMILY PROTEINS MEDIATED TRANSPORT 34 21 该途径中的所有SZGR 2.0基因
REACTOME TRANSMEMBRANE TRANSPORT OF SMALL MOLECULES 413 270 该途径中的所有SZGR 2.0基因
渡边直肠癌放疗反应能力 108 67 该途径中的所有SZGR 2.0基因
渡边结肠癌MSI与MSS DN 81 42 该途径中的所有SZGR 2.0基因
Sengupta鼻咽癌，LMP1 UP 408 247 该途径中的所有SZGR 2.0基因
ZHOU INFLAMMATORY RESPONSE LIVE UP 485 293 该途径中的所有SZGR 2.0基因
Vecchi胃癌先进与早期DN 138 70 该途径中的所有SZGR 2.0基因
vecchi胃癌早期 430 232 该途径中的所有SZGR 2.0基因
周炎性反应lps up 431 237 该途径中的所有SZGR 2.0基因
MIDORIKAWA AMPLIFIED IN LIVER CANCER 55 38 该途径中的所有SZGR 2.0基因
RASHI RESPONSE TO IONIZING RADIATION 2 127 92 该途径中的所有SZGR 2.0基因
Schaeffer前列腺开发6小时 176 115 该途径中的所有SZGR 2.0基因
GOTZMANN EPITHELIAL TO MESENCHYMAL TRANSITION DN 206 136 该途径中的所有SZGR 2.0基因
BENPORATH SUZ12 TARGETS 1038 678 该途径中的所有SZGR 2.0基因
BENPORATH EED TARGETS 1062 725 该途径中的所有SZGR 2.0基因
TARTE PLASMA CELL VS PLASMABLAST UP 398 262 该途径中的所有SZGR 2.0基因
AFFAR YY1 TARGETS UP 214 133 该途径中的所有SZGR 2.0基因
CUI TCF21 TARGETS 2 UP 428 266 该途径中的所有SZGR 2.0基因
YAUCH HEDGEHOG SIGNALING PARACRINE DN 264 159 该途径中的所有SZGR 2.0基因
Yoshimura mapk8靶向 1305 895 该途径中的所有SZGR 2.0基因
Wagschal EHMT2靶向 13 7 该途径中的所有SZGR 2.0基因
RAO BOUND BY SALL4 ISOFORM A 182 108 该途径中的所有SZGR 2.0基因

Section VI. microRNA annotation

mirna家族 Target position mirna id miRNA seq
UTR start UTR end 匹配方法
miR-101 1508 1514 1A HSA-MIR-101 UACAGUACUGUGAUAACUGAAG
mir-144 1508 1514 1A hsa-miR-144 UACAGUAUAGAUGAUGUACUAG
mir-377 1549年 1555年 M8 hsa-miR-377 aucacacaaaggaacuuuuugu