ADA基因详情-基因数据库-基因云馆

ADA (adenosine deaminase)

symbol:: ADA
locus group:: protein-coding gene
location:: 20q13.12
gene_family:
alias symbol:: ADA1
alias name:: None
entrez id:: 100
ensembl gene id:: ENSG00000196839
ucsc gene id:: uc002xmj.4
refseq accession:: NM_000022
hgnc_id:: HGNC:186
approved reserved:: 1986-01-01

20q13.12

腺苷脱氨酶（ADA）基因位于人类20号染色体上，编码腺苷脱氨酶，这是一种在嘌呤代谢中起关键作用的酶，负责将腺苷和脱氧腺苷转化为肌苷和脱氧肌苷，从而防止这些代谢物的毒性积累。ADA主要在淋巴组织中高表达，尤其在T细胞和B细胞中，对免疫系统的正常功能至关重要。ADA基因突变会导致腺苷脱氨酶缺乏症（ADA-SCID），这是一种严重的联合免疫缺陷病，患者因无法有效代谢腺苷和脱氧腺苷而出现免疫细胞发育受阻，导致反复感染和免疫系统功能丧失。ADA-SCID通常通过基因治疗或骨髓移植进行治疗。ADA属于腺苷脱氨酶基因家族，该家族成员在核苷代谢中发挥类似作用，但ADA是其中唯一与免疫缺陷直接相关的成员。ADA过表达可能导致嘌呤代谢异常，影响细胞能量平衡和信号传导，而ADA表达降低则直接引发ADA-SCID，导致免疫系统崩溃。此外，ADA活性异常还与某些自身免疫疾病和癌症相关，因为腺苷代谢紊乱可能影响免疫监视和炎症反应。研究还发现，ADA在调节细胞外腺苷水平中起作用，从而影响腺苷受体的信号通路，进一步参与炎症、血管生成和神经保护等过程。ADA基因的突变类型包括错义突变、无义突变和缺失突变，不同突变对酶活性的影响程度不同，导致疾病严重程度各异。基因治疗中常用逆转录病毒载体将正常ADA基因导入患者造血干细胞，以恢复免疫功能。ADA基因的研究不仅为免疫缺陷病提供了治疗方向，也为理解嘌呤代谢与免疫系统的关系提供了重要线索。

中文English

这个基因编码催化腺苷的水解为肌苷的酶。各种突变已经描述了该基因，并已与人类疾病。缺乏这种酶会引起严重的联合免疫缺陷病（SCID）的一种形式，在其中有两个B的功能障碍和与受损的细胞免疫的T淋巴细胞和生产免疫球蛋白的减少，而这种酶的水平升高已经先天性溶血性贫血相关联。 [由RefSeq的，2008年7月提供]

OMIM数据库中对ADA基因的介绍 Wikipedia数据库中对ADA基因的介绍

ADA基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MAQTPAFDKP KVELHVHLDG SIKPETILYY GRRRGIALPA
41NTAEGLLNVI GMDKPLTLPD FLAKFDYYMP AIAGCREAIK
81
RIAYEFVEM KAKEGVVYVE VRYSPHLLAN SKVEPIPWNQ
121AEGDLTPDEV VALVGQGLQE GERDFGVKAR SILCCMRHQP
161N
WSPKVVEL CKKYQQQTVV AIDLAGDETI PGSSLLPGHV
201QAYQEAVKSG IHRTVHAGEV GSAEVVKEAV DILKTERLGH
241GY
HTLEDQA LYNRLRQENM HFEICPWSSY LTGAWKPDTE
281HAVIRLKNDQ ANYSLNTDDP LIFKSTLDTD YQMTKRDMGF
321TEE
EFKRLN INAAKSSFLP EDEKRELLDL LYKAYGMPPS
361ASAGQNL

结构预测来自 AlphaFold DB（UniProt: P00813），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

ADA基因的碱基突变：仅显示部分snp

rs244072 rs244073 rs244074 rs244075 rs244076 rs244077 rs244078 rs244079 rs371927 rs375379 rs379863 rs382464 rs384851 rs386512 rs389308 rs394105 rs395209

ADA基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

AGATGAGACCATCCCAGGA

59

TTGAGTATGTCCACAGCCTC

60

CAAGCCCAAAGTGGAACTG

59

GCTTGTCCATGCCAATGAC

60

AAAGGCTGAACATCAATGCG

60

TAGGCTTTATAGAGCAGGTCG

59

CATGCACTTCGAGATCTGC

59

TTGAGCGAGTAGTTAGCCT

58

CAAGCCCAAAGTGGAACTG

59

GCTTGTCCATGCCAATGAC

60

ATCTTATACTATGGCAGGAGGAG

59

CTTGTCCATGCCAATGACG

60

TGTAAGAAGTACCAGCAGCA

59

TTGAGTATGTCCACAGCCTG

60

AGATGAGACCATCCCAGGA

59

TTGAGTATGTCCACAGCCTC

60

CTTGAAAGTTGCTGGAGGAG

59

TAGGTGGACATGCAGTTCC

59

ATCTTATACTATGGCAGGAGGAG

59

CTTGTCCATGCCAATGACG

60

转录因子

影响基因

影响类型

参考文献链接（PubMed）

SP1

ADA

Unknown

8127716

ADA基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

质膜
细胞质
细胞外
高尔基体
囊泡
细胞骨架
内质网
细胞核
内体
溶酶体
线粒体

ADA基因的本体（GO）信息：

GO库代码

对应的蛋白质

来源代码

GO:0005737

F5GWI4 (UniProtKB)

IDA

GO:0005886

F5GWI4 (UniProtKB)

IDA

GO:0009168

F5GWI4 (UniProtKB)

IEA

GO:0019239

F5GWI4 (UniProtKB)

IEA

GO:0019239

F5GXW0 (UniProtKB)

IEA

GO:0019239

F5GYD4 (UniProtKB)

IEA

GO:0001666

P00813 (UniProtKB)

IDA

GO:0001821

P00813 (UniProtKB)

IEA

GO:0001829

P00813 (UniProtKB)

IEA

GO:0001883

P00813 (UniProtKB)

IEA

GO:0001889

P00813 (UniProtKB)

IEA

GO:0001890

P00813 (UniProtKB)

IEA

GO:0002314

P00813 (UniProtKB)

IEA

GO:0002636

P00813 (UniProtKB)

IEA

GO:0002686

P00813 (UniProtKB)

IEA

GO:0002906

P00813 (UniProtKB)

IEA

GO:0004000

P00813 (UniProtKB)

ISS

GO:0004000

P00813 (UniProtKB)

IDA

GO:0004000

P00813 (UniProtKB)

IDA

GO:0004000

P00813 (UniProtKB)

EXP

GO:0004000

P00813 (UniProtKB)

IDA

GO:0004000

P00813 (UniProtKB)

IDA

GO:0004000

P00813 (UniProtKB)

IDA

GO:0004000

P00813 (UniProtKB)

IDA

GO:0005515

P00813 (UniProtKB)

IPI

GO:0005515

P00813 (UniProtKB)

IPI

GO:0005515

P00813 (UniProtKB)

IPI

GO:0005615

P00813 (UniProtKB)

IEA

GO:0005737

P00813 (UniProtKB)

IDA

GO:0005764

P00813 (UniProtKB)

IDA

GO:0005829

P00813 (UniProtKB)

IBA

GO:0005829

P00813 (UniProtKB)

TAS

GO:0005886

P00813 (UniProtKB)

IDA

GO:0006154

P00813 (UniProtKB)

ISS

GO:0006154

P00813 (UniProtKB)

IDA

GO:0006154

P00813 (UniProtKB)

IDA

GO:0006157

P00813 (UniProtKB)

IEA

GO:0007568

P00813 (UniProtKB)

IEA

GO:0008270

P00813 (UniProtKB)

ISS

GO:0008270

P00813 (UniProtKB)

IMP

GO:0009168

P00813 (UniProtKB)

IEA

GO:0009897

P00813 (UniProtKB)

IDA

GO:0009897

P00813 (UniProtKB)

IDA

GO:0009986

P00813 (UniProtKB)

IDA

GO:0009986

P00813 (UniProtKB)

IDA

GO:0010460

P00813 (UniProtKB)

IEA

GO:0016020

P00813 (UniProtKB)

IDA

GO:0030054

P00813 (UniProtKB)

IEA

GO:0030890

P00813 (UniProtKB)

IEA

GO:0032261

P00813 (UniProtKB)

IMP

GO:0032839

P00813 (UniProtKB)

IEA

GO:0033089

P00813 (UniProtKB)

IEA

GO:0033197

P00813 (UniProtKB)

IEA

GO:0033632

P00813 (UniProtKB)

IDA

GO:0042110

P00813 (UniProtKB)

IDA

GO:0042323

P00813 (UniProtKB)

IEA

GO:0042493

P00813 (UniProtKB)

IEA

GO:0042542

P00813 (UniProtKB)

IEA

GO:0043025

P00813 (UniProtKB)

IEA

GO:0043101

P00813 (UniProtKB)

TAS

GO:0043103

P00813 (UniProtKB)

IBA

GO:0043278

P00813 (UniProtKB)

IEA

GO:0045987

P00813 (UniProtKB)

IEA

GO:0046061

P00813 (UniProtKB)

IEA

GO:0046103

P00813 (UniProtKB)

ISS

GO:0046103

P00813 (UniProtKB)

IDA

GO:0046111

P00813 (UniProtKB)

IEA

GO:0046638

P00813 (UniProtKB)

IEA

GO:0048286

P00813 (UniProtKB)

IEA

GO:0048541

P00813 (UniProtKB)

IEA

GO:0048566

P00813 (UniProtKB)

IEA

GO:0050728

P00813 (UniProtKB)

IEA

GO:0050850

P00813 (UniProtKB)

IEA

GO:0050862

P00813 (UniProtKB)

IEA

GO:0060169

P00813 (UniProtKB)

IDA

GO:0060205

P00813 (UniProtKB)

IEA

GO:0060407

P00813 (UniProtKB)

IEA

GO:0070244

P00813 (UniProtKB)

IEA

GO:0070256

P00813 (UniProtKB)

IEA

可能调控 ADA基因的相关microRNA：

hsa-miR-98 hsa-miR-484

String

BioGrid

IntAct

mentha

Reactome

加载中…

关联基因	作用方式	资源库来源/分值

KEGG
Reactomepathway

名称
230 Purine metabolism [PATH:hsa00230]
5340 Primary immunodeficiency [PATH:hsa05340]

名称
Metabolism
Metabolism of nucleotides
Purine metabolism
Purine salvage

疾病名称

关系值

NofPmids

NofSnps

来源

疾病名称	关系值	NofPmids	NofSnps	来源
SCID Due to ADA Deficiency, Early-Onset	0.323800186	23	36	BeFree_CLINVAR_MGD_UNIPROT
Severe combined immunodeficiency due to adenosine deaminase deficiency	0.246514605	24	3	BeFree_CTD_human_ORPHANET
Severe Combined Immunodeficiency	0.151954196	109	4	BeFree_CLINVAR_GAD
Autistic Disorder	0.128544182	4	1	BeFree_CTD_human_GAD_LHGDN
Hyperemia	0.122367032	3	0	CTD_human_GAD
Partial adenosine deaminase deficiency	0.121900093	7	8	BeFree_CLINVAR
Omenn Syndrome	0.12	0	0	ORPHANET
Spinal Cord Diseases	0.12	1	0	CTD_human
SCID Due to ADA Deficiency, Delayed Onset	0.12	0	2	CLINVAR
Lung Neoplasms	0.12	1	0	CTD_human

ECE-VDTDA: A robust and computationally efficient collision avoidance system for driver assistance in foggy weather.

Raza N, Habib MA, Albarrak AM, Ahmad M, Sayed Ahmed AE, Yasir M, Ur Rahman H, Latif MA PLoS One IF: 2.6 None

Lane departure on combined curves: driver heterogeneity, centrifugal risk, and crash prevention.

Wang X, Zhang Y, Li Y, Yi X, Wang X, Hao G Sci Rep IF: 4.9 2026-02-12

Effects of major solid cancer surgery on oxidative stress assessed by plasma xanthine oxidase and adenosine deaminase activity : a pilot study.

Pastene B, Marlinge M, Fromonot J, Dodivers J, Bah AP, Ben Lassoued A, Lalevée N, Thomas PA, Birnbaum DJ, Mokart D, Leone M, Zieleskiewicz L, Guieu R World J Surg Oncol IF: 1.600 2026-02-12

Dialdehyde Alginate as a Crosslinker for Chitosan/Starch Films: Toward Biocompatible and Antioxidant Wound Dressing Materials.

Grabska-Zielińska S, Pietrzak M, Zasada L, Łukowicz K, Basta-Kaim A, Michalska-Sionkowska M, Wekwejt M, Kaczmarek-Szczepańska B Int J Mol Sci IF: 3.226 2026-01-23

Prediction of infliximab and anti-drug antibody concentrations in patients with inflammatory bowel disease using machine learning models with real-world data from a prospective cohort study.

Kim M, Song JH, Hong SN, Kim MG, Kim ER, Chang DK, Kim YH Front Pharmacol IF: 4.400 None

Applying a statistical model-based AI method to identify prognostic factors for long-term cognitive decline in Alzheimer's disease: Evidence from pooled placebo data of four phase III trials.

Hanazawa R, Sato H, Suzuki K, Hirakawa A Int J Med Inform IF: 5.0 2026-05-00

Lecanemab for treatment of individuals with early Alzheimer's Disease (AD) who are apolipoprotein E ε4 (ApoE ε4) non-carriers or heterozygotes.

Perry R, Kipps C, Soto Martín ME, Bozzali M, Logroscino G, Trafford S, Dhadda S, Kanekiyo M, Goodwin A, Hodgkinson M, Hersch S, Irizarry M, Kramer L, Froelich L J Prev Alzheimers Dis IF: 6.7 2026-04-00

Wesselsbron Virus-Induced Hepatitis in Ewes and Lambs Unraveled Through Machine Learning-Driven Digital Histopathology.

Grau-Roma L, de Brot S, Zimoch M, Clerc L, Donzé N, Liniger M, Brito F, Herrera A, Godel A, Summerfield A, Benarafa C, García-Nicolás O Transbound Emerg Dis IF: 2.6 None

Determination of correlation of clearance with clinical outcomes for inflammatory bowel disease.

Mould DR, Kutschera M, Primas C, Reinisch S, Novacek G, Lichtenberger C, Dervieux T, Bae Y, Lee SH, Lee JH, Reinisch W World J Gastroenterol IF: 7.7 2026-02-07

Revisiting HLA-DQA1*05 in Asian inflammatory bowel disease cohorts: Ethnic variations in genetic susceptibility to immunogenicity.

Hu CQ, Song XM, Teng YS, Guo H World J Gastroenterol IF: 7.7 2026-02-07

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ADA (adenosine deaminase)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

编码蛋白质

编码蛋白质

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

基因相关文献

基因相关文献

基因相关服务

基因相关服务

基因相关评论

基因相关评论

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