1. Gene
  2. AICDA - activation induced cytidine deaminase Gene

AICDA - activation induced cytidine deaminase Gene

中文名称:活化诱导的胞苷脱氨酶

种属: Homo sapiens

同用名: AID; ARP2; CDA2; HIGM2; HEL-S-284

基因 ID: 57379 | 基因类型: protein coding

关于 AICDA

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:8,602,170-8,612,859 (from NCBI)

This gene has 9 transcripts (splice variants), 200 orthologues, 9 paralogues and is associated with 2 phenotypes. Biased expression in lymph node (RPKM 7.1) and appendix (RPKM 1.7).

功能概要

该基因编码一种 RNA 编辑脱氨酶,它是胞苷脱氨酶家族的一员。 AICDA 在生发中心样 B 细胞中特异性表达和活跃。在生发中心,AICDA 参与免疫球蛋白基因的体细胞超变、基因转换和类别转换重组。在肿瘤转化和淋巴瘤进展中的表观遗传作用已通过小鼠模型实验归因于 AICDA。该基因的缺陷是常染色体隐性遗传高 IgM 免疫缺陷综合征 2 型 (HIGM2) 的原因。[RefSeq 提供,2020 年 7 月]

This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. AICDA is specifically expressed and active in germinal center-like B cells. In the germinal center, AICDA is involved in somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. An epigenetic role in neoplastic transformation and lymphoma progression has been experimentally ascribed to AICDA using mouse models. Defects in this gene are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). [provided by RefSeq, Jul 2020]

AICDA 基因产物(3)

mRNA Protein Name
NM_001330343.2 NP_001317272.1 single-stranded DNA cytosine deaminase isoform 2
NM_001410970.1 NP_001397899.1 single-stranded DNA cytosine deaminase isoform 3
NM_020661.4 NP_065712.1 single-stranded DNA cytosine deaminase isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables cytidine deaminase activity IDA
IDA: 通过直接分析推断
18722174 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
19412186 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16387847 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
23277564 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of gene expression via chromosomal CpG island demethylation IDA
IDA: 通过直接分析推断
21496894 GOA
involved in regulation of nuclear cell cycle DNA replication IMP
IMP: 通过突变表型推断
19734146 GOA
involved in somatic diversification of immunoglobulins IDA
IDA: 通过直接分析推断
18722174 GOA
involved in somatic hypermutation of immunoglobulin genes IMP
IMP: 通过突变表型推断
21518874 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
14769937 GOA
located in nucleus IDA
IDA: 通过直接分析推断
14769937 GOA
part of protein-containing complex IPI
IPI: 通过物理相互作用推断
21255825 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

AICDA 蛋白结构

APOBEC_N

APOBEC_N: APOBEC-like N-terminal domain (11 - 179)

  • 0
  • 100
  • 198 a.a.
蛋白主名 其他名称

single-stranded DNA cytosine deaminase

cytidine aminohydrolase

AICDA 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra AICDA Q9GZX7 DNAJA1 Homo sapiens P31689
Pull Down
22085931
Intra AICDA Q9GZX7 DNAJA1 Homo sapiens P31689
Anti Tag CoIP
22085931
Intra AICDA Q9GZX7 TDG Homo sapiens Q13569
Anti Tag CoIP
21722948
Intra AICDA Q9GZX7 TDG Homo sapiens Q13569
Anti Bait CoIP
21722948
Intra AICDA Q9GZX7 HSPA8 Homo sapiens P11142
Pull Down
22085931
Intra AICDA Q9GZX7 DNAJA2 Homo sapiens O60884
Pull Down
22085931
Intra AICDA Q9GZX7 KPNA3 Homo sapiens O00505
Pull Down
19412186
Intra AICDA Q9GZX7 KPNA1 Homo sapiens P52294
Pull Down
19412186
Intra AICDA Q9GZX7 PRKAR1A Homo sapiens P10644
Anti Tag CoIP
16387847
Intra AICDA Q9GZX7 PRKAR1A Homo sapiens P10644
TAP
16387847
Intra AICDA Q9GZX7 PRKACA Homo sapiens P17612
Anti Tag CoIP
16387847
Intra AICDA Q9GZX7 GADD45A Homo sapiens P24522
Anti Tag CoIP
21722948
Intra AICDA Q9GZX7 PRKAR1A Homo sapiens P10644
Anti Bait CoIP
16387847
Intra AICDA Q9GZX7 KPNA5 Homo sapiens O15131
Pull Down
19412186
Intra AICDA Q9GZX7 C Hepatitis B virus Q784Z8
Anti Bait CoIP
26867650
Intra AICDA Q9GZX7 C Hepatitis B virus Q784Z8
Anti Tag CoIP
26867650
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Immunodeficiency With Hyper-Igm, Type 2

HIGM2

Hyper-Igm Syndrome Type 2

Hyper-Igm Syndrome 2

Immunodeficiency With Hyper-Igm Type 2

Activation-Induced Cytidine Deaminase Deficiency

Aid Deficiency

Immunodeficiency With Hyper Igm Type 2

Hyper Igm Syndrome 2

Immunodeficiency With Hyper-Igm 2

Hyper-Igm Immunodeficiency Type 2

Immunodeficiency, With Hyper Igm, Type 2

Hyper-Igm Immunodeficiency Syndrome, Type 2

Currarino Syndrome

Currarino Triad

Partial Sacral Agenesis With Intact First Sacral Vertebra, Presacral Mass And Anorectal Malformation

CURRAS

Immunodeficiency With Hyper-Igm, Type 1

Immunodeficiency, X-Linked, With Hyper-Igm

Hyper Igm Syndrome

HIGM1

Xhim

Hyper-Igm Syndrome

Higm

Hyper-Igm Syndrome 1

Immunodeficiency 3

Imd3

Immunodeficiency With Hyper-Igm

Immunodeficiency With Hyper Igm Type 1

Ihis

X-Linked Hyper Igm Syndrome

Hyper-Igm Immunodeficiency, X-Linked

Hyper Igm Immunodeficiency, X-Linked

Hyper Igm Syndrome 1

X-Linked Immunodeficiency With Hyper-Igm 1

Immunodeficiency, With Hyper Igm

Immunodeficiency, With Hyper Igm, Type 1

Hyper-Igm Immunodeficiency Syndrome, Type 1

Hyperimmunoglobulin M Syndrome

Immunodeficiency With Hyper-Igm, Type 3

HIGM3

Immunodeficiency With Hyper Igm Type 3

Hyper-Igm Syndrome Type 3

Hyper-Igm Syndrome 3

Hyper-Igm Syndrome Due To Cd40 Deficiency

Cd40 Deficiency

Type 3 Hyper-Igm Immunodeficiency

Hyper Igm Syndrome 3

Immunodeficiency With Hyper-Igm 3

Hyper-Igm Immunodeficiency Type 3

Immunodeficiency, With Hyper Igm, Type 3

Hyper-Igm Immunodeficiency Syndrome, Type 3

Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Burkitt Lymphoma

Burkitt'S Lymphoma

BL

Burkitt Lymphoma, Somatic

Burkitt Lymphoma/Leukaemia

Burkitt'S Tumor

Burkitt'S Tumor Or Lymphoma

Malignant Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma, Burkitt'S Type

Small Non-Cleaved Cell Lymphoma

Burkitt Tumor

Burkitts Lymphoma

Lymphoma, Small Noncleaved-Cell

Burkitt Tumour

Diffuse Small Noncleaved Malignant Burkitt Lymphoma

Malignant Burkitt Lymphoma

“Burkitt-Like” Lymphoma

Undifferentiated Burkitt Lymphoma

Small Noncleaved Cell Burkitt Lymphoma

Follicular Lymphoma

Lymphoma, Follicular

Lymphoma Follicular

Brill-Symmers' Disease

Large Cell Follicular Non-Hodgkin Lymphoma

Diffuse Follicle Centre Lymphoma

Diffuse Follicular Lymphoma Nos

Follicular Nodular Non-Hodgkin Lymphoma, Unspecified

Follicular Large Cell Cleaved Or Noncleaved Lymphoma

Large Cell Follicular Noncleaved Lymphoma

Follicular Lymphoma With Or Without Diffuse Areas

Histiocytic Follicular Lymphoma

Histiocytic Nodular Lymphoma

Histiocytic Nodular Malignant Lymphoma

Large Cell Follicular Lymphoma

Large Cell Noncleaved Follicular Lymphoma

Large Cell Noncleaved Follicular Malignant Lymphoma

Nodular Reticulum Cell Sarcoma

Noncleaved Follicular Lymphoma

Cd40 Ligand Deficiency

X-Linked Hyper Igm Syndrome

Hyperimmunoglobulin M Syndrome

Higm1

Hyper-Igm Syndrome Type 1

X-Linked Hyper-Igm Syndrome

Xhigm

Higmx-1

X-Linked Hyper-Igm Immunodeficiency

Hyper-Igm Syndrome 1

Immunodeficiency With Hyper-Igm, Type 1

Hyper-Igm Syndrome Due To Cd40 Ligand Deficiency

Hyper-Igm Syndrome Due To Cd40l Deficiency

Hyper-Igm Immunodeficiency Syndrome

Hyper-Igm Immunodeficiency Syndrome, Type 1

Selective Ige Deficiency Disease

Selective Immunoglobulin E Deficiency

Selective Ige Immunodeficiency

Immunodeficiency With Hyper-Igm, Type 4

HIGM4

Hyper-Igm Syndrome Type 4

Immunodeficiency With Hyper-Igm Type 4

Hyper-Igm Syndrome 4

Immunodeficiency With Hyper Igm Type 4

Hyper Igm Syndrome 4

Immunodeficiency, With Hyper Igm, Type 4

Common Variable Immunodeficiency

Cvid

Common Variable Agammaglobulinemia

Common Variable Immune Deficiency

Acquired Hypogammaglobulinemia

Hypogamma-Globulinemia, Acquired

Idiopathic Immunoglobulin Deficiency

Primary Antibody Deficiency

Primary Hypogammaglobulinemia

Acquired Agammaglobulinemia

Sporadic Hypogammaglobulinemia

Common Variable Hypogamma-Globulinemia

Immunoglobulin Deficiency, Late-Onset

Common Variable Hypogammaglobulinemia

Immunodeficiency, Common Variable

Immunodeficiency With Hyper-Igm, Type 5

HIGM5

Hyper-Igm Syndrome 5

Immunodeficiency With Hyper Igm Type 5

Hyper-Igm Syndrome Type 5

Hyper-Igm Syndrome Due To Ung Deficiency

Hyper-Igm Syndrome Due To Uracil N-Glycosylase

Immunodeficiency With Hyper Igm, Type 5

Hyper Igm Syndrome 5

Immunodeficiency With Hyper-Igm 5

Hyper-Igm Immunodeficiency Type 5

Immunodeficiency, With Hyper Igm, Type 5

Hyper-Igm Immunodeficiency Syndrome, Type 5

B-Cell Lymphoma

Lymphoma, B-Cell

B-Cell Lymphomas

B-Cell Lymphocytic Neoplasm

Lymphoma B-Cell

B-Cell Lymphoma Nos

Fungal Gastritis
Nijmegen Breakage Syndrome

Berlin Breakage Syndrome

NBS

Microcephaly, Normal Intelligence And Immunodeficiency

Ataxia-Telangiectasia Variant

Ataxia-Telangiectasia Variant V1

Seemanova Syndrome Ii

Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome

Seemanova Syndrome Type 2

At-V1

Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies

Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence

Immunodeficiency, Microcephaly, And Chromosomal Instability

Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome

Microcephaly Immunodeficiency Lymphoreticuloma

Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies

Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence

Seemanova Syndrome 2

Ataxia-Telangiectasia Variant 1

Seemanova Syndrome

At V1

Ataxia-Telangiectasia, Variant 1

Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome

V-At

Ataxia Telangiectasia Variant V1

B Cell Deficiency

Immunoglobulin Heavy Chain Deficiency

B Cell Deficiencies

Immunoglobulin Heavy Chain Deletion

Humoral Immune Defect

Acute Maxillary Sinusitis

Acute Antritis

Ichthyosis, Congenital, Autosomal Recessive 11

Autosomal Recessive Congenital Ichthyosis 11

Ichthyosis With Hypotrichosis, Autosomal Recessive

Arih

Ichthyosis And Follicular Atrophoderma With Hypotrichosis And Hypohidrosis

Autosomal Recessive Ichthyosis With Hypotrichosis

ARCI11

Ifah

Hypotrichosis-Congenital Ichthyosis Syndrome

Ichthyosis-Follicular Atrophoderma-Hypotrichosis Syndrome

Ichthyosis-Follicular Atrophoderma-Hypotrichosis-Hypohidrosis Syndrome

Ichthyosis-Hypotrichosis Syndrome

Ifah Syndrome

Ihs

Plasmacytoma

Solitary Plasmacytoma

Solitary Myeloma

Myeloma - Solitary

Myeloma, Solitary

Plasmacytoma - Category

Solitary Osseous Plasmacytoma

Solitary Plasmacytoma Without Mention Of Remission

Localised Malignant Plasma Cell Tumour Nos

Plasmacytoma Nos

Immunoglobulin Alpha Deficiency

Iga Deficiency

Gamma-A-Globulin Deficiency

Immunoglobulin A Deficiency

Lymphoma, Non-Hodgkin, Familial

Non-Hodgkin Lymphoma

Lymphoma, Non-Hodgkin

NHL

Lymphoma, Non-Hodgkin, Somatic

Lymphoma, Follicular, Somatic

Familial Non-Hodgkin Lymphoma

Lymphoma Non-Hodgkins

Follicular Lymphoma, Somatic

Lymphosarcoma

Non-Hodgkins Lymphoma

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

Leukemia, Chronic Lymphocytic

Chronic Lymphocytic Leukemia

B-Cell Chronic Lymphocytic Leukemia

CLL

B-Cell Chronic Lymphoid Leukemia

Chronic Lymphatic Leukemia

Chronic Lymphocytic Leukaemia

Lymphoplasmacytic Leukemia

Small Lymphocytic Lymphoma

Leukemia, Chronic Lymphatic

B-Cell Chronic Lymphocytic Leukaemia

Chronic Lymphatic Leukaemia

Lymphoplasmacytic Leukaemia

B Cell Chronic Lymphocytic Leukemia

Chronic B-Cell Lymphocytic Leukemia

Leukemia, Lymphocytic, Chronic

B-Cll

Chronic Lymphoid Leukemia

Leukemia Lymphocytic Chronic

Lymphoma Small Lymphocytic

Leukemia, Lymphocytic, Chronic, B-Cell

Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency

Congenital Myasthenic Syndrome 9

CMS9

Congenital Myasthenic Syndrome 9, Associated With Acetylcholine Receptor Deficiency

Myasthenic Syndrome, Congenital, Type 9, Associated With Acetylcholine Receptor Deficiency

Mature B-Cell Neoplasm

Mature B-Cell Lymphocytic Neoplasm

Neoplasm Of Mature B-Cells

Mature B-Cell Non-Hodgkin Neoplasm With Leukaemic Behaviour

Asthma

Chronic Obstructive Asthma

Asthma, Diminished Response To Antileukotriene Treatment In

Bronchial Hyperreactivity

Asthma, Susceptibility To

Asthma, Bronchial

Asthma, Protection Against

Asthma, Nocturnal, Susceptibility To

Nocturnal Asthma

Asthma-Related Traits

Asthma-Related Traits, Susceptibility To

Asthma, Nocturnal

Chronic Obstructive Asthma With Acute Exacerbation

Chronic Obstructive Asthma With Status Asthmaticus

Exercise Induced Asthma

Exercise-Induced Asthma

Bronchial Asthma

Asthma, Exercise-Induced

Idiosyncratic Asthma

Unspecified Asthma With Acute Exacerbation

Asthma, Unspecified, With Stated Status Asthmaticus

Status Asthmaticus Nos

Acute Severe Asthma

Acute Severe Bronchial Asthma

Status Asthma

Status Post Asthmaticus

Small Intestine Leiomyosarcoma

Leiomyosarcoma Of The Small Bowel

Smooth Muscle Connective Tissue Tumor

Leiomyosarcoma Of Small Intestine

Lymphoma, Mucosa-Associated Lymphoid Type

Malt Lymphoma

Gastric Lymphoma, Primary

Lymphoma, Malt, Somatic

Mucosa-Associated Lymphoid Tissue Lymphoma

Extranodal Marginal Zone B-Cell Lymphoma

MALTOMA

Marginal Zone B-Cell Lymphoma

Mucosa-Associated Lymphatic Tissue Lymphoma

Primary Gastric Lymphoma

Gastric Lymphoma

Familial Primary Gastric Lymphoma

Omenn Syndrome

Histiocytic Medullary Reticulosis

Severe Combined Immunodeficiency With Hypereosinophilia

Combined Immunodeficiency With Hypereosinophilia

Reticuloendotheliosis, Familial, With Eosinophilia

Reticuloendotheliosis Familial With Eosinophilia

Familial Reticuloendotheliosis

Omenn'S Syndrome

OS

Malignant Histiocytosis

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Felis catus AICDA VGNC VGNC:59698
Canis familiaris AICDA VGNC VGNC:37733
Macaca mulatta AICDA VGNC VGNC:69602
Bos taurus AICDA VGNC VGNC:25757
Mus musculus AICDA MGD MGI:1342279
Rattus norvegicus AICDA RGD RGD:1303222
Others AICDA NCBI