AICDA - activation induced cytidine deaminase Gene

Also Known as AID; ARP2; CDA2; HIGM2; HEL-S-284

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57379

About 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).

Summary

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 Products (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
Molecular Function GO Annotation Evidence References Source
enables cytidine deaminase activity IDA
IDA: Inferred from direct assay
18722174 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
19412186 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
16387847 GOA
enables ubiquitin protein ligase binding IPI
IPI: Inferred from physical interaction
23277564 GOA
Biological Process GO Annotation Evidence References Source
involved in positive regulation of gene expression via chromosomal CpG island demethylation IDA
IDA: Inferred from direct assay
21496894 GOA
involved in regulation of nuclear cell cycle DNA replication IMP
IMP: Inferred from mutant phenotype
19734146 GOA
involved in somatic diversification of immunoglobulins IDA
IDA: Inferred from direct assay
18722174 GOA
involved in somatic hypermutation of immunoglobulin genes IMP
IMP: Inferred from mutant phenotype
21518874 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
14769937 GOA
located in nucleus IDA
IDA: Inferred from direct assay
14769937 GOA
part of protein-containing complex IPI
IPI: Inferred from physical interaction
21255825 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AICDA Protein Structure

APOBEC_N

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

  • 0
  • 100
  • 198 a.a.
Protein Preferred Names Protein Names

single-stranded DNA cytosine deaminase

  • cytidine aminohydrolase

AICDA Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
AICDA Q9GZX7 DNAJA1 Homo sapiens P31689 22085931
Intra
AICDA Q9GZX7 DNAJA1 Homo sapiens P31689 22085931
Intra
AICDA Q9GZX7 TDG Homo sapiens Q13569 21722948
Intra
AICDA Q9GZX7 TDG Homo sapiens Q13569 21722948
Intra
AICDA Q9GZX7 HSPA8 Homo sapiens P11142 22085931
Intra
AICDA Q9GZX7 DNAJA2 Homo sapiens O60884 22085931
Intra
AICDA Q9GZX7 KPNA3 Homo sapiens O00505 19412186
Intra
AICDA Q9GZX7 KPNA1 Homo sapiens P52294 19412186
Intra
AICDA Q9GZX7 PRKAR1A Homo sapiens P10644 16387847
Intra
AICDA Q9GZX7 PRKAR1A Homo sapiens P10644
TAP
16387847
Intra
AICDA Q9GZX7 PRKACA Homo sapiens P17612 16387847
Intra
AICDA Q9GZX7 GADD45A Homo sapiens P24522 21722948
Intra
AICDA Q9GZX7 PRKAR1A Homo sapiens P10644 16387847
Intra
AICDA Q9GZX7 KPNA5 Homo sapiens O15131 19412186
Intra
AICDA Q9GZX7 C Hepatitis B virus Q784Z8 26867650
Intra
AICDA Q9GZX7 C Hepatitis B virus Q784Z8 26867650
Cross: Cross-species interaction Intra: Intraspecies interaction

AICDA Antibodies

Cat. No. Product Name Application Reactivity
HY-P811544 AID Antibody (YA10091) WB, ICC/IF, IF-Tissue, IP, ELISA human

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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