【佳学基因检测】遗传代谢科基因评估分析知识测验中关于CA2的准备
基因检测的序列名称:
CA2
人体基因序列变化与疾病表征数据库中的基因代码:
760
人体基因序列数据库中国际交流名称全称
carbonic anhydrase 2
中国数据库中基因全称:
碳酸酐酶2
基因检测报告英文版基因简介
The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
基因突变所影响的基因信息
该基因编码的蛋白质是碳酸酐酶的几种同工酶之一,可催化二氧化碳的可逆水合。该酶的缺陷与骨质疏松症和肾小管性酸中毒有关。已经为该基因发现了编码不同同工型的两个转录物变体。[由RefSeq提供,2014年6月]
国际国内该碱基基因序列的其他英语文字母简称:
CA-II, CAC, CAII, Car2, HEL-76, HEL-S-282
基因解码对该基因序列在细胞核中的染色体所给予的编号:
该基因序列位于人类第8号染色体上。
基因解码对基因序列的精准定位
该基因序列在GRCh37版本中的起始位置坐标为:86376131;结束位置坐标为:86393721。该基因序列在GRCh38版本中的起始位置坐标为:85463902;结束位置坐标为:85481492。精准的基因信息定位是基因检测和对检测结果进行准确解读的关键。
佳学基因解码对该基因的功能分类:国际版
Enzymes/ENZYME proteins/Lyases
基因解码对该基因的功能分类:中文版
酶/酶蛋白/裂解酶
结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所(国际版):
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结构与功能基因解码所揭示的该基因发挥作用的细胞内位置(中文版):
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该基因序列变化后增加的疾病风险(国际版):
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3; Distal Renal Tubular Acidosis; Elevated serum acid phosphatase; Camurati-Engelmann Syndrome; Extramedullary Hematopoiesis (disorder); Extramedullary erythropoiesis; Abnormality of the renal tubule; Compression of optic nerve; Enlargement of skull bones; Excessive growth of skull bones; Hyperostosis of cranial vault; Hypertrophy of cranial bones; Periodic hypokalemic paresis; Thick skull bones; Aseptic Necrosis of Bone; Aseptic necrosis; Bone infarction; Bone necrosis; Osteopetrosis; Basal ganglia calcification; Hepatosplenomegaly; Decreased bone mineral density Z score; Abnormality of epiphysis morphology; Bone pain; Cerebral calcification; Abnormal vision; Neuropathy; Frequent fractures; Increased fracture rate; Varying degree of multiple fractures; Knee joint valgus deformity; Angle class 2 malocclusion; Angle class 3 malocclusion; Malocclusion; Dental abnormalities; Tooth Abnormalities; Dental caries; Rotting teeth; Class III malocclusion; Hypertrophy of lower jaw; Increased size of mandible; Mandibular hyperplasia; mandibular excess (physical finding); Squamous cell carcinoma of esophagus; Decreased platelet count; Adenocarcinoma; Hemoglobin low; Thrombocytopenia; Peripheral Neuropathy; Anemia; Osteoporosis; Splenomegaly; Liver carcinoma; Hepatomegaly; Stomach Neoplasms; Failure to gain weight; Pediatric failure to thrive; Short stature; Cognitive delay; Global developmental delay; Mental and motor retardation; Dull intelligence; Low intelligence; Mental Retardation; Mental deficiency; Poor school performance; Intellectual Disability; Autosomal recessive predisposition
如果该基因突变后,风险可能增加的疾病类型(中文版):
骨硬化症常染色体隐性遗传 2型;远端肾小管酸中毒;血清酸性磷酸酶升高; Camurati-Engelmann 综合症;髓外造血(紊乱);髓外红细胞生成;肾小管异常;视神经受压;颅骨扩大;颅骨过度生长;颅骨肥厚;颅骨肥大;周期性低血钾性麻痹;厚厚的颅骨;骨无菌性坏死;无菌性坏死;骨梗塞;骨坏死;骨质疏松症;基底神经节钙化;肝脾肿大;骨矿物质密度 Z 评分降低;骨骺形态异常;骨痛;脑钙化;视力异常;神经病;经常骨折;骨折率增加;不同程度的多发性骨折;膝关节外翻畸形;角度 2 级错牙合;角度 3 级错牙合;咬合不正;牙齿异常;牙齿异常;龋齿;蛀牙; III 类咬合不正;下颌肥大;下颌骨增大;下颌骨增生;下颌过长(物理发现);食道鳞状细胞癌;血小板计数减少;腺癌;血红蛋白低;血小板减少症;周围神经病变;贫血;骨质疏松症;脾肿大;肝癌;肝肿大;胃肿瘤;未能增加体重;儿科发育不良;身材矮小;认知延迟;整体发育迟缓;智力和运动迟缓;智力迟钝;智力低下;智力低下;精神缺陷;学习成绩差;智力残疾;常染色体隐性易感性
GWAS基因检测所建立的与该基因的疾病关联(国际版):
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GWAS基因检测所解码的该基因突变会增加风险的疾病种类(中文版):
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以该基因做靶点的药物(国际版):
Methyclothiazide (Zinc ion binding);Topiramate (Zinc ion binding);Ethoxzolamide (Zinc ion binding);Bendroflumethiazide (Zinc ion binding);Benzthiazide (Zinc ion binding);Cyclothiazide (Zinc ion binding);Furosemide (Zinc ion binding);Methazolamide (Zinc ion binding);Hydroflumethiazide (Zinc ion binding);Acetazolamide (Zinc ion binding);Dorzolamide (Zinc ion binding);Chlorothiazide (Zinc ion binding);Zonisamide (Zinc ion binding);Hydrochlorothiazide (Zinc ion binding);Trichlormethiazide (Zinc ion binding);Ethinamate (Zinc ion binding);Diazoxide (Zinc ion binding);Diclofenamide (Zinc ion binding);Brinzolamide (Zinc ion binding);Quinethazone (Zinc ion binding);4-(Hydroxymercury)Benzoic Acid (Zinc ion binding);N-Benzyl-4-Sulfamoyl-Benzamide (Zinc ion binding);4-Flourobenzenesulfonamide (Zinc ion binding);Formic Acid (Zinc ion binding);AL5424 (Zinc ion binding);N-(2-Flouro-Benzyl)-4-Sulfamoyl-Benzamide (Zinc ion binding);3,5-Difluorobenzenesulfonamide (Zinc ion binding);Al7089a (Zinc ion binding);4-(Aminosulfonyl)-N-[(2,4,6-Trifluorophenyl)Methyl]-Benzamide (Zinc ion binding);6-Oxo-8,9,10,11-Tetrahydro-7h-Cyclohepta[C][1]Benzopyran-3-O-Sulfamate (Zinc ion binding);4-(Aminosulfonyl)-N-[(4-Fluorophenyl)Methyl]-Benzamide (Zinc ion binding);(R)-N-(3-Indol-1-Yl-2-Methyl-Propyl)-4-Sulfamoyl-Benzamide (Zinc ion binding);Aminodi(Ethyloxy)Ethylaminocarbonylbenzenesulfonamide (Zinc ion binding);AL7182 (Zinc ion binding);N-(2,3,4,5,6-Pentaflouro-Benzyl)-4-Sulfamoyl-Benzamide (Zinc ion binding);Cyanamide (Zinc ion binding);4-(Aminosulfonyl)-N-[(3,4,5-Trifluorophenyl)Methyl]-Benzamide (Zinc ion binding);Dansylamide (Zinc ion binding);Sulfamic Acid 2,3-O-(1-Methylethylidene)-4,5-O-Sulfonyl-Beta-Fructopyranose Ester (Zinc ion binding);N-(2-Thienylmethyl)-2,5-Thiophenedisulfonamide (Zinc ion binding);4-(Aminosulfonyl)-N-[(2,5-Difluorophenyl)Methyl]-Benzamide (Zinc ion binding);AL7099A (Zinc ion binding);Al-6619, [2h-Thieno[3,2-E]-1,2-Thiazine-6-Sulfonamide,2-(3-Hydroxyphenyl)-3-(4-Morpholinyl)-, 1,1-Dioxide] (Zinc ion binding);2,6-Difluorobenzenesulfonamide (Zinc ion binding);1-Methyl-3-Oxo-1,3-Dihydro-Benzo[C]Isothiazole-5-Sulfonic Acid Amide (Zinc ion binding);(4-sulfamoyl-phenyl)-thiocarbamic acid O-(2-thiophen-3-yl-ethyl) ester (Zinc ion binding);4-Methylimidazole (Zinc ion binding);AL5927 (Zinc ion binding);1,2,4-Triazole (Zinc ion binding);N-[2-(1h-Indol-5-Yl)-Butyl]-4-Sulfamoyl-Benzamide (Zinc ion binding);Al-6629, [2h-Thieno[3,2-E]-1,2-Thiazine-6-Sulfonamide,2-(3-Methoxyphenyl)-3-(4-Morpholinyl)-, 1,1-Dioxide] (Zinc ion binding);4-Sulfonamide-[1-(4-Aminobutane)]Benzamide (Zinc ion binding);N-(2,6-Diflouro-Benzyl)-4-Sulfamoyl-Benzamide (Zinc ion binding);AL4623 (Zinc ion binding);Urea (Zinc ion binding);(S)-N-(3-Indol-1-Yl-2-Methyl-Propyl)-4-Sulfamoyl-Benzamide (Zinc ion binding);Mercuribenzoic Acid (Zinc ion binding);4-Sulfonamide-[4-(Thiomethylaminobutane)]Benzamide (Zinc ion binding);(4s-Trans)-4-(Methylamino)-5,6-Dihydro-6-Methyl-4h-Thieno(2,3-B)Thiopyran-2-Sulfonamide-7,7-Dioxide (Zinc ion binding);AL5300 (Zinc ion binding);4-(Aminosulfonyl)-N-[(2,4-Difluorophenyl)Methyl]-Benzamide (Zinc ion binding);3-Mercuri-4-Aminobenzenesulfonamide (Zinc ion binding);AL6528 (Zinc ion binding);3-Nitro-4-(2-Oxo-Pyrrolidin-1-Yl)-Benzenesulfonamide (Zinc ion binding);4-(Aminosulfonyl)-N-[(2,3,4-Trifluorophenyl)Methyl]-Benzamide (Zinc ion binding);4-[(3-BROMO-4-O-SULFAMOYLBENZYL)(4-CYANOPHENYL)AMINO]-4H-[1,2,4]-TRIAZOLE (Zinc ion binding);4-[(4-O-SULFAMOYLBENZYL)(4-CYANOPHENYL)AMINO]-4H-[1,2,4]-TRIAZOLE (Zinc ion binding);1-N-(4-SULFAMOYLPHENYL-ETHYL)-2,4,6-TRIMETHYLPYRIDINIUM (Zinc ion binding);5-{[(4-AMINO-3-CHLORO-5-FLUOROPHENYL)SULFONYL]AMINO}-1,3,4-THIADIAZOLE-2-SULFONAMIDE (Zinc ion binding);2-(cycloheptylmethyl)-1,1-dioxido-1-benzothiophen-6-yl sulfamate (Zinc ion binding);N-[(2R)-5-(aminosulfonyl)-2,3-dihydro-1H-inden-2-yl]-2-propylpentanamide (Zinc ion binding);5-[(phenylsulfonyl)amino]-1,3,4-thiadiazole-2-sulfonamide (Zinc ion binding);THIOPHENE-2,5-DISULFONIC ACID 2-AMIDE-5-(4-METHYL-BENZYLAMIDE) (Zinc ion binding);4-chloro-N-[(2S)-2-methyl-2,3-dihydro-1H-indol-1-yl]-3-sulfamoylbenzamide (Zinc ion binding);N-[4-(AMINOSULFONYL)PHENYL]-2-MERCAPTOBENZAMIDE (Zinc ion binding);(17beta)-17-(cyanomethyl)-2-methoxyestra-1(10),2,4-trien-3-yl sulfamate (Zinc ion binding);5-(2-chlorophenyl)-1,3,4-thiadiazole-2-sulfonamide (Zinc ion binding);PHENYLALANYLAMINODI(ETHYLOXY)ETHYL BENZENESULFONAMIDEAMINOCARBONYLBENZENESULFONAMIDE (Zinc ion binding);N-(2,3-DIFLUORO-BENZYL)-4-SULFAMOYL-BENZAMIDE (Zinc ion binding);2-chloro-5-[(1S)-1-hydroxy-3-oxo-2H-isoindol-1-yl]benzenesulfonamide (Zinc ion binding);2-(1,3-thiazol-4-yl)-1H-benzimidazole-5-sulfonamide (Zinc ion binding);N-{2-[4-(AMINOSULFONYL)PHENYL]ETHYL}ACETAMIDE (Zinc ion binding);3-[4-(AMINOSULFONYL)PHENYL]PROPANOIC ACID (Zinc ion binding);ETHYL 3-[4-(AMINOSULFONYL)PHENYL]PROPANOATE (Zinc ion binding);indane-5-sulfonamide (Zinc ion binding);4-({[(4-METHYLPIPERAZIN-1-YL)AMINO]CARBONOTHIOYL}AMINO)BENZENESULFONAMIDE (Zinc ion binding);N-({[4-(AMINOSULFONYL)PHENYL]AMINO}CARBONYL)-4-METHYLBENZENESULFONAMIDE (Zinc ion binding);SULTHIAME (Zinc ion binding);(9BETA,13ALPHA,14BETA,17ALPHA)-2-METHOXYESTRA-1,3,5(10)-TRIENE-3,17-DIYL DISULFAMATE (Zinc ion binding);(4aS,4bR,10bS,12aS)-12a-methyl-1,3-dioxo-2-(pyridin-3-ylmethyl)-1,2,3,4,4a,4b,5,6,10b,11,12,12a-dodecahydronaphtho[2,1-f]isoquinolin-8-yl sulfamate (Zinc ion binding);6-CHLORO-3-(DICHLOROMETHYL)-3,4-DIHYDRO-2H-1,2,4-BENZOTHIADIAZINE-7-SULFONAMIDE 1,1-DIOXIDE (Zinc ion binding);2-(hydrazinocarbonyl)-3-phenyl-1H-indole-5-sulfonamide (Zinc ion binding);6-HYDROXY-1,3-BENZOTHIAZOLE-2-SULFONAMIDE (Zinc ion binding);4-(2-AMINOETHYL)BENZENESULFONAMIDE (Zinc ion binding);Ellagic Acid (Zinc ion binding)
针对该基因所产生的突变,可能有精准效果的药物(中文版):
甲基氯噻嗪(锌离子结合);托吡酯(锌离子结合);乙唑胺(锌离子结合);苯氟噻嗪(锌离子结合);苯并噻嗪(锌离子结合);环噻嗪(锌离子结合);速尿(锌离子结合);醋甲唑胺(锌离子结合);氢氟噻嗪(锌离子结合);乙酰唑胺(锌离子结合);多佐胺(锌离子结合);氯噻嗪(锌离子结合);唑尼沙胺(锌离子结合);氢氯噻嗪(锌离子结合);三氯噻嗪( Zinc ion binding);Ethinamate (Zinc ion binding);Diazoxide (Zinc ion binding);双氯酚胺(Zinc ion binding);Brinzolamide (Zinc ion binding);Quinethazone (Zinc ion binding);4-(Hydroxymercury)Benzoic Acid (Zinc ion)结合);N-苄基-4-氨磺酰基-苯甲酰胺(锌离子结合);4-氟苯磺酰胺(锌离子结合);甲酸(锌离子结合);AL5424(锌离子结合);N-(2-氟-苄基)-4-氨磺酰基-苯甲酰胺(锌离子结合);3,5-二氟苯磺酰胺(锌离子结合);Al7089a(锌离子结合);4-(氨基磺酰基)-N-[(2,4,6-三氟苯基)甲基]-Benzamide(锌离子结合);6-Oxo-8,9,10,11-Tetrahydro-7h-Cyclohepta[C][1]Benzopyran-3-O-Sulfamate(锌离子结合);4-(氨基磺酰基) -N-[(4-Fluorophenyl)Methyl]-Benzamide (Zinc ion binding);(R)-N-(3-Indol-1-Yl-2-Methyl-Propyl)-4-Sulfamyl-Benzamide (Zinc ion binding) );Aminodi(Ethyloxy)Ethylaminocarbonylbenzenesulfonamide (Zinc ion binding);AL7182 (Zinc ion binding);N-(2,3,4,5,6-Pentaflouro-Benzyl)-4-Sulfamyl-Benzamide (Zinc ion binding);氰胺(锌离子结合);4-(氨基磺酰基)-N-[(3,4,5-三氟苯基)甲基]-苯甲酰胺(锌离子结合);丹磺酰胺(锌离子结合);氨基磺酸 2,3-O-( 1-甲基亚乙基)-4,5-O-磺酰基-β-吡喃果糖酯(锌离子结合);N-(2-噻吩基甲基)-2,5-噻吩二磺酰胺(锌离子结合);4-(氨基磺酰基)-N- [(2,5-二氟苯基)甲基]-苯甲酰胺(锌离子结合);AL7099A(锌离子结合);Al-6619,[2h-噻吩并[3,2-E]-1,2-噻嗪-6-磺酰胺,2-(3-Hydroxyphenyl)-3-(4-Morpholinyl)-, 1,1-Dioxide](锌离子结合);2,6-二氟苯磺酰胺(锌离子结合);1-Methyl-3-Oxo-1 ,3-Dihydro-Benzo[C]Isothiazole-5-Sulfonic Acid Amide (Zinc ion binding);(4-sulfamoyl-phenyl)-thiocarbamic acid O-(2-thiophen-3-yl-ethyl) ester (Zinc ion binding) );4-甲基咪唑(锌离子结合);AL5927(锌离子结合);1,2,4-三唑(锌离子结合);N-[2-(1h-Indol-5-Yl)-Butyl]-4 -氨磺酰苯甲酰胺(锌离子结合);Al-6629,[2h-噻吩并[3,2-E]-1,2-噻嗪-6-磺酰胺,2-(3-甲氧基苯基)-3-(4-吗啉基)-, 1,1-二氧化物](锌离子结合);4-磺酰胺-[1-(4-氨基丁烷)]苯甲酰胺(锌离子结合);N-(2,6-二氟-苄基)-4-氨磺酰-Benzamide (Zinc ion binding);AL4623 (Zinc ion binding);Urea (Zinc ion binding);(S)-N-(3-Indol-1-Yl-2-Methyl-Propyl)-4-Sulfamyl-Benzamide ( Zinc ion binding);Mercuribenzoic Acid (Zinc ion binding);4-Sulfonamide-[4-(Thiomethylaminobutane)]Benzamide (Zinc ion binding);(4s-Trans)-4-(Methylamino)-5,6-Dihydro-6 -Methyl-4h-Thieno(2,3-B)Thiopyran-2-Sulfonamide-7,7-Dioxide(锌离子结合);AL5300(锌离子结合);4-(氨基磺酰基)-N-[(2,4 -Difluorophenyl)Methyl]-Benzamide (Zinc ion binding);3-Mercuri-4-Aminobenzenesulfonamide (Zinc ion binding);AL6528 (Zinc ion binding);3-Nitro-4-(2-Oxo-Pyrrolidin-1-Yl) -苯磺酰胺(锌离子结合);4-(氨基磺酰基)-N-[(2,3,4-三氟苯基)甲基]-苯甲酰胺(锌离子结合);4-[(3-BROMO-4-O-磺酰基苄基) (4-氰基苯基)氨基]-4H-[1,2,4]-三唑(锌离子结合);4-[(4-O-磺胺酰基苯甲基)(4-氰基苯基)氨基]-4H-[1,2, 4]-三唑(锌离子结合);1-N-(4-磺胺基苯基-乙基)-2,4,6-三甲基吡啶(锌离子结合);5-{[(4-氨基-3-氯-5-氟苯基)磺酰基]氨基}-1,3,4-噻二唑-2-磺酰胺(锌离子结合);2-(环庚基甲基)-1,1-二氧化-1-苯并噻吩-6-基氨基磺酸酯(锌离子结合); N-[(2R)-5-(aminosulfonyl)-2,3-dihydro-1H-inden-2-yl]-2-propylpentanamide (Zinc ion binding);5-[(phenylsulfonyl)amino]-1,3, 4-thiadiazole-2-sulfonamide(锌离子结合);THIOPHENE-2,5-DISULFONIC ACID 2-AMIDE-5-(4-METHYL-BENZYLAMIDE)(锌离子结合);4-chloro-N-[(2S) -2-methyl-2,3-dihydro-1H-indol-1-yl]-3-sulfamoylbenzamide (Zinc ion binding);N-[4-(AMINOSULFONYL)PHENYL]-2-MERCAPTOBENZAMIDE (Zinc ion binding);( 17beta)-17-(cyanomethyl)-2-methoxyestra-1(10),2,4-trien-3-yl sulfamate (Zinc ion binding);5-(2-chlorophenyl)-1,3,4-thiadiazole- 2-磺酰胺(锌离子结合);PHENYLALANYLAMINODI(ETHYLOXY)ETHYL BENZENESULFONAMIDEAMINOCARBONYLBENZENESULFONAMIDE(锌离子结合);N-(2,3-二氟苯甲基)-4-磺胺酰基-苯甲酰胺(锌离子结合);2-chloro-5- [(1S)-1-hydroxy-3-oxo-2H-isoindol-1-yl]benzenesulfonamide (Zinc ion binding);2-(1,3-thiazol-4-yl)-1H-benzimidazole-5-sulfonamide (锌离子结合);N-{2-[4-(氨基磺酰基)苯基]乙基}乙酰胺(锌离子结合);3-[4-(氨基磺酰基)苯基]丙酸(锌离子结合);乙基3-[4 -(氨基磺酰基)苯基]丙酸酯(锌离子结合);茚满 5-磺酰胺(锌离子结合);4-({[(4-甲基哌嗪-1-YL)氨基]硫代羰基}氨基)苯磺酰胺(锌离子结合) ;N-({[4-(氨基磺酰基)苯基]氨基}羰基)-4-甲基苯磺酰胺(锌离子结合);硫胺素(锌离子结合);(9BETA,13ALPHA,14BETA,17ALPHA)-2-METHOXYESTRA-1, 3,5(10)-三烯-3,17-二酰基二磺酸(锌离子结合);(4aS,4bR,10bS,12aS)-12a-methyl-1,3-dioxo-2-(pyridin-3-ylmethyl) -1,2,3,4,4a,4b,5,6,10b,11,12,12a-十二氢萘[2,1-f]isoquinolin-8-yl sulfamate (Zinc ion binding);6-CHLORO-3 -(DICHLOROMETHYL)-3,4-DIHYDRO-2H-1,2,4-BENZOTHIADIAZINE-7-Sulfonamide 1,1-DIOXIDE (Zinc ion binding);2-(hydrazinocarbonyl)-3-phenyl-1H-indole-5 -磺胺(锌离子结合);6-羟基-1,3-苯并噻唑-2-磺酰胺(锌离子结合);4-(2-氨基乙基)苯磺酰胺(锌离子结合);鞣花酸(锌离子结合)
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