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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

AICDA Gene

protein-coding GIFtS: 64
GCID: GC12M008754

activation-induced cytidine deaminase

Explore 52 diseases affiliated with
AICDA via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Activation-Induced Cytidine Deaminase¹ ²		CDA2¹ ²
AID¹ ² ³ ⁵		Cytidine Aminohydrolase² ³
HIGM2¹ ² ⁵		EC 3.5.4.5³ ⁸
ARP2¹ ²		Integrated Into Burkitt'S Lymphoma Cell Line Ramos²

External Ids:	HGNC: 13203¹	Entrez Gene: 57379²	Ensembl: ENSG00000111732⁷	OMIM: 605257⁵	UniProtKB: Q9GZX7³

Export aliases for AICDA gene to outside databases

Previous GC identifers: GC12M008462 GC12M008902 GC12M008655 GC12M008646 GC12M008537

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AICDA:

This gene encodes a RNA-editing deaminase that is a member of the cytidine deaminase family. The protein is involved in

somatic hypermutation, gene conversion, and class-switch recombination of immunoglobulin genes. Defects in this gene

are the cause of autosomal recessive hyper-IgM immunodeficiency syndrome type 2 (HIGM2). (provided by RefSeq, Feb

2009)

UniProtKB/Swiss-Prot: AICDA_HUMAN, Q9GZX7

Function: Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation, gene conversion, and

class-switch recombination in B-lymphocytes. Required for several crucial steps of B-cell terminal differentiation

necessary for efficient antibody responses. May also play a role in the epigenetic regulation of gene expression by

participating in DNA demethylation

Gene Wiki entry for AICDA

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_009714.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the AICDA gene promoter:
c-Fos AP-1 NF-kappaB HNF-1A CREB Max deltaCREB HSF2 NF-kappaB1 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: AICDA promoter sequence

Search SABiosciences Chromatin IP Primers for AICDA

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AICDA

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13 Ensembl cytogenetic band: 12p13.31 HGNC cytogenetic band: 12p13

AICDA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AICDA gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M008754: view genomic region (about GC identifiers)

Start:	8,754,762 bp from pter	End:	8,765,467 bp from pter
Size:	10,706 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AICDA_HUMAN, Q9GZX7 (See protein sequence)

Recommended Name: Activation-induced cytidine deaminase

Size: 198 amino acids; 23954 Da

Cofactor: Zinc (By similarity)

Subunit: Interacts with CTNNBL1; the interaction is important for the immunoglobulin switch activity of AICDA.

Interacts (via its NLS) with KPNA1. Interacts with PKA/PRKACA and PRKAR1A/PKR1

Subcellular location: Nucleus. Cytoplasm. Note=Predominantly cytoplasmic but shuttles between the nucleus and the

cytoplasm

Explore the universe of human proteins at neXtProt for AICDA: NX_Q9GZX7

Post-translational modifications:

Ser-38 is the major site whereas Thr-27 is the minor site of phosphorylation. Phosphorylation regulates its

class-switch recombination activity¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9GZX7

2 DME Specific Peptides for AICDA (Q9GZX7)

FTSWSPC

RQLRRILLPLYEVDDLRDAFR

AICDA Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_065712.1

ENSEMBL proteins:

ENSP00000229335 ENSP00000439103 ENSP00000439538 ENSP00000445691 ENSP00000443060

Human Recombinant Protein Products:

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	Novus Biologicals AICDA Proteins Novus Biologicals AICDA Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for AICDA

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000178	colocalizes with exosome (RNase complex)	IDA	--
GO:0005634	nucleus	IDA	14769937
GO:0005737	cytoplasm	IDA	--

AICDA for ontologies About GeneDecksing

AICDA Antibody Products:

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	Uscn ELISAs and CLIAs for AICDA

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

AICDA for domains About GeneDecksing

3 InterPro domains/families:

IPR016193 Cytidine_deaminase-like

IPR016192 APOBEC/CMP_deaminase_Zn-bd

IPR013158 APOBEC_N

Graphical View of Domain Structure for InterPro Entry Q9GZX7

ProtoNet protein and cluster: Q9GZX7

2 Blocks protein families:

IPB002125 Cytidine/deoxycytidylate deaminase

IPB007904 APOBEC-like

UniProtKB/Swiss-Prot: AICDA_HUMAN, Q9GZX7

Similarity: Belongs to the cytidine and deoxycytidylate deaminase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: AICDA_HUMAN, Q9GZX7

Function: Single-stranded DNA-specific cytidine deaminase. Involved in somatic hypermutation, gene conversion, and

class-switch recombination in B-lymphocytes. Required for several crucial steps of B-cell terminal differentiation

necessary for efficient antibody responses. May also play a role in the epigenetic regulation of gene expression by

participating in DNA demethylation

Catalytic activity: Cytidine + H(2)O = uridine + NH(3)

Enzyme Number (IUBMB): EC 3.5.4.5¹ ²

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AICDA
		8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate AICDA (see all 18):
		hsa-miR-124* hsa-miR-498 hsa-miR-4291 hsa-miR-148b* hsa-miR-502-5p hsa-miR-4263 hsa-miR-155 hsa-miR-548c-3p

		SwitchGear 3'UTR luciferase reporter plasmid: AICDA 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AICDA (see all 4) OriGene shRNA RFP: AICDA OriGene siRNA: AICDA
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for AICDA

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for AICDA
		Search LifeMap BioReagents cell lines for AICDA

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AICDA

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004126	cytidine deaminase activity	NAS	10950930
GO:0005515	protein binding	IPI	--
GO:0008270	zinc ion binding	IEA	--
GO:0016814	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines	--	--

AICDA for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Aicda^tm1Hon for AICDA
     9 MGI mutant phenotypes (inferred from 11 alleles) (MGI details for Aicda):

cellular	digestive/alimentary	hematopoietic system	immune system	integument
mortality/aging	no phenotypic analysis	normal	tumorigenesis

AICDA for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Lymphocyte Signaling

Lymphocyte Signaling

1.00

IL4-mediated signaling events

IL4-mediated signaling events

1.00

Primary immunodeficiency

Primary immunodeficiency

1.00

pyrimidine ribonucleotides interconversion

salvage pathways of pyrimidine ribonucleotides

0.45

Allograft rejection

Intestinal immune network for IgA production

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for AICDA

Lymphocyte Signaling

3 BioSystems Pathways for AICDA

	IL4-mediated signaling events
	salvage pathways of pyrimidine ribonucleotides
	salvage pathways of pyrimidine deoxyribonucleotides

2 Kegg Pathways (Kegg details for AICDA):

	Intestinal immune network for IgA production
	Primary immunodeficiency

AICDA for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for AICDA

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/79 Interacting proteins for AICDA (Q9GZX7^{1, 2, 3} ENSP00000229335⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 79)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
DNAJA2	O60884²	MINT-8378360 MINT-8380842 MINT-8378435
ENSG00000258947	Q13509³	I2D: score=1
GLYR1	Q49A26³, ENSP00000322716⁴	I2D: score=1 STRING: ENSP00000322716
KPNA1	P52294³, ENSP00000343701⁴	I2D: score=1 STRING: ENSP00000343701
MRE11A	P49959³, ENSP00000325863⁴	I2D: score=1 STRING: ENSP00000325863

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006397	mRNA processing	IEA	--
GO:0009972	cytidine deamination	--	--
GO:0016445	somatic diversification of immunoglobulins	IDA	18722174
GO:0030183	B cell differentiation	NAS	11007475
GO:0045190	isotype switching	IEA	--

AICDA for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

AICDA for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for AICDA

2 HMDB Compounds for AICDA About this table

Compound	Synonyms	CAS #	PubMed Ids
Cytidine	1-(b-D-Ribofuranosyl)-2-oxo-4-amino-1,2-dihydro-1,3-diazine (see all 20)	65-46-3	--
dCMP	2'-Deoxycytidine 5'-monophosphate (see all 12)	1032-65-1	--

9 Novoseek chemical compound relationships for AICDA gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cytidine	98.1	405	16964591 (4), 16697045 (4), 19380635 (4), 16580072 (3) (see all 99)
cytosine	76	35	15087440 (3), 15034045 (2), 15797512 (2), 14769937 (1) (see all 27)
deoxycytosine	66.4	2	16464563 (1), 16884961 (1)
deoxycytidine	63.2	14	20048284 (2), 17328676 (1), 11994423 (1), 18070939 (1) (see all 9)
deoxyuridine	51.1	6	18213388 (1), 15023419 (1), 18070939 (1), 17227912 (1)
ivig	3.72	1	12715918 (1)
zinc	0	3	17560271 (1)
estrogen	0	5	19139166 (3), 19139165 (2), 12591955 (1)
cycloheximide	0	1	12591955 (1)

Search CenterWatch for drugs/clinical trials and news about AICDA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AICDA gene:

NM_020661.2

Unigene Cluster for AICDA:

Activation-induced cytidine deaminase

Hs.149342 [show with all ESTs]

Unigene Representative Sequence: NM_020661

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000229335(uc001qup.1 uc001quq.1 uc009zgd.1 uc001qur.2)

ENST00000543081 ENST00000544516 ENST00000545576 ENST00000537228 ENST00000545512

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AICDA
		8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate AICDA (see all 18):
		hsa-miR-124* hsa-miR-498 hsa-miR-4291 hsa-miR-148b* hsa-miR-502-5p hsa-miR-4263 hsa-miR-155 hsa-miR-548c-3p

		SwitchGear 3'UTR luciferase reporter plasmid: AICDA 3' UTR sequence

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AICDA (see all 4) OriGene shRNA RFP: AICDA OriGene siRNA: AICDA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AICDA

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AICDA (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for AICDA OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: AICDA (NM_020661)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for AICDA
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AICDA

Additional cDNA sequence:

AB040431.1 AF529818.1 AJ577811.1 AY534975.1 AY536516.1 AY536517.1 AY541058.1 AY748364.1

BC006296.2 BT007402.1 DQ431660.1

3 DOTS entries:

DT.433929 DT.102821864 DT.91797647

24/96 AceView cDNA sequences (see all 96):

AY534975 AA831307 AY536517 BC006296 AI016902 AB040431 AJ577811 AI468242

CR615215 NM_020661 AF529845 BG754140 AF529826 AF529848 BG398364 BF664355

AF529833 AF529823 AF529816 AF529834 BT007402 BG755526 AF529842 AF529843

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for AICDA About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4
SP1:
SP2:					-
SP3:					-		-
SP4:			-		-		-

ECgene alternative splicing isoforms for AICDA

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AICDA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATTTCCTTTT

About this image

AICDA expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Antral Follicle

Cumulus Cells

Ovary

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See AICDA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AICDA

SOURCE GeneReport for Unigene cluster: Hs.149342

UniProtKB/Swiss-Prot: AICDA_HUMAN, Q9GZX7

Tissue specificity: Strongly expressed in lymph nodes and tonsils

SABiosciences Expression via Pathway-Focused PCR Array including AICDA:

T-cell & B-cell Activation in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AICDA

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AICDA

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for AICDA gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Aicda^{1 , 5}	activation-induced cytidine deaminase^{1, 5}	87.14(n)¹ 92.89(a)¹		6 (57.65 cM)⁵ 11628¹ NM_009645.2¹ NP_033775.1¹ 122553801⁵
chicken (Gallus gallus)	Aves	AICDA¹	activation-induced cytidine deaminase	80.47(n) 89.9(a)		418257 NM_001243222.1 NP_001230151.1
lizard (Anolis carolinensis)	Reptilia	AICDA⁶	--	85(a)	1 ↔ 1	2(81525306-81531876)
zebrafish (Danio rerio)	Actinopterygii	aicda¹	activation-induced cytidine deaminase	62.27(n) 64.47(a)		493784 NM_001008403.1 NP_001008403.1

ENSEMBL Gene Tree for AICDA (if available)
TreeFam Gene Tree for AICDA (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for AICDA gene

APOBEC3G² APOBEC3D² APOBEC3F² APOBEC1² APOBEC2² APOBEC3B² APOBEC3C² APOBEC3A²

APOBEC3H²

12 SIMAP similar genes for AICDA using alignment to 9 protein entries: AICDA_HUMAN (see all proteins):

AID APOBEC1 APOBEC3F APOBEC3C APOBEC3A APOBEC3G

APOBEC2 APOBEC3B APOBEC3D APOBEC3DE APOBEC3H bK150C2.9

AICDA for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894327^1,2	C	pathogenic	8540291(-)	`TACTTC/TTGTAG`	2	S F	mis¹		0	--	--	--	--
rs104894323^1,2	C	pathogenic	8540302(-)	`TACTGA/CTGGAA`	2	* C	stg¹		0	--	--	--	--
rs104894322^1,2	C	pathogenic	8540621(-)	`CCATCA/GTGACC`	2	M V	mis¹		0	--	--	--	--
rs104894321^1,2	C	pathogenic	8540719(-)	`CAGTCC/TGAGGA`	2	P L	mis¹		0	--	--	--	--
rs104894320^1,2	C	pathogenic	8540798(-)	`TCACCC/TGGTTC`	2	R W	mis¹		0	--	--	--	--
rs104894325^1,2	C	pathogenic	8540833(-)	`GGACTA/GGGACC`	2	* W	stg¹		0	--	--	--	--
rs104894324^1,2	C	pathogenic	8542345(-)	`AGGGTC/TGGCGT`	2	R W	mis¹		0	--	--	--	--
rs104894982^1,2	C,	untested	8539231(-)	`TTGACG/ATTTAC`	1	--	ut3¹		1		NA	120
rs104894984^1,2	C,F,	untested	8540826(-)	`GACCTA/GGACCC`	2	L	syn¹		1		EU	1323
rs7316523^1,2	C,F,A,H,	--	8537350(+)	`tataaA/Tttagt`	1	--	ds500¹		8		NA WA CSA	249

HapMap Linkage Disequilibrium report for AICDA (8754762 - 8765467 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for AICDA: --
Human Gene Mutation Database (HGMD): AICDA

Locus Specific Mutation Databases (LSDB): AICDA

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AICDA

DNA2.0 Custom Variant and Variant Library Synthesis for AICDA

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

AICDA for disorders           About GeneDecksing

OMIM gene information: 605257
OMIM disorders: 605258
UniProtKB/Swiss-Prot: AICDA_HUMAN, Q9GZX7

Defects in AICDA are the cause of immunodeficiency with hyper-IgM type 2 (HIGM2) [MIM:605258]. A rare

immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It

results in a profound susceptibility to bacterial infections

20/52 diseases for AICDA (see all 52): About MalaCards

burkitt's lymphoma immunodeficiency with hyper igm type 2 immunodeficiency with hyper igm splenic marginal zone lymphoma

immunodeficiency nijmegen breakage syndrome b-cell non-hodgkin lymphoma common variable immunodeficiency

non-hodgkin lymphoma plasma cell neoplasm ataxia telangiectasia atrophic gastritis

hodgkin's lymphoma b-cell lymphomas hairy cell leukemia mantle cell lymphoma

plasmacytoma malt lymphoma lymphocytic leukemia allergic rhinitis

3 diseases from the University of Copenhagen DISEASES database for AICDA:

Lymphoma X-linked hyper IgM syndrome Chronic lymphocytic leukemia

10/37 Novoseek disease relationships for AICDA gene (see all 37) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
higm2	92.1	10	11007475 (3), 12840068 (2), 19266080 (1), 14610488 (1)
hyper-igm syndrome	88.3	17	11007475 (2), 14564357 (2), 19266080 (1), 12840068 (1) (see all 10)
higm3	84	4	12840068 (1), 14610488 (1)
somatic mutations	64.9	14	18329947 (2), 12511417 (1), 15284115 (1), 16574227 (1) (see all 12)
nijmegen breakage syndrome	56.3	1	17183606 (1)
lymphoma b-cell	54.3	20	12511417 (2), 17560277 (1), 15385936 (1), 16541139 (1) (see all 11)
burkitt lymphoma	52.4	6	15304391 (1), 18090274 (1), 12873980 (1), 15061213 (1) (see all 6)
lymphoma	47	41	18776814 (5), 17251349 (3), 19941823 (3), 18066064 (2) (see all 19)
lymphocytic leukemia chronic b-cell	47	4	16323428 (1), 15304391 (1), 15561888 (1), 12521993 (1)
lymphoma follicular	46.9	5	12511417 (1), 12873980 (1), 19309412 (1), 14990977 (1) (see all 5)

Genetic Association Database (GAD): AICDA
Human Genome Epidemiology (HuGE) Navigator: AICDA (13 documents)

Export disorders for AICDA gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for AICDA gene, integrated from 9 sources (see all 347):
(articles sorted by number of sources associating them with AICDA)

Utopia: connect your pdf to the dynamic
world of online information

Association between a new polymorphism in the activation-induced cytidine deaminase gene and atopic asthma and the regulation of total serum IgE levels. (PubMed id 11544457)^{1, 2, 4, 9} Noguchi E.... Arinami T. (2001)
Isolation, tissue distribution, and chromosomal localization of the human activation-induced cytidine deaminase (hAID) gene. (PubMed id 10950930)^{1, 2, 9} Muto T.... Honjo T. (2000)
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). (PubMed id 11007475)^{1, 2, 9} Revy P....Durandy A. (2000)
Interaction between antibody-diversification enzyme AID and spliceosome-associated factor CTNNBL1. (PubMed id 18722174)^{1, 2, 9} Conticello S.G....Neuberger M.S. (2008)
Activation-induced cytidine deaminase shuttles between nucleus and cytoplasm like apolipoprotein B mRNA editing catalytic polypeptide 1. (PubMed id 14769937)^{1, 2, 9} Ito S....Honjo T. (2004)
[Correlation between activation-induced cytidine deaminase gene polymorphism and atopic asthma and plasma IgE in adult] (PubMed id 15182647)^{1, 4, 9} Cui T.P....Wu J.M. (2003)
Polymorphisms of IL-4, IL-4R alpha, and AICDA genes in adult allergic asthma. (PubMed id 12973929)^{1, 4, 9} Cui T....Xie J. (2003)
CTNNBL1 is a novel nuclear localization sequence-bind ing protein that recognizes RNA-splicing factors CDC5L and Prp31. (PubMed id 21385873)^{1, 2} Ganesh K....Neuberger M. (2011)
Phosphorylation directly regulates the intrinsic DNA cytidine deaminase activity of activation-induced deaminase and APOBEC3G protei n. (PubMed id 21659520)^{1, 2} Demorest Z.L....Harris R.S. (2011)
PKA-mediated phosphorylation regulates the function of activation-induced deaminase (AID) in B cells. (PubMed id 16387847)^{1, 2} Pasqualucci L....Dalla-Favera R. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 57379	HGNC: 13203	AceView: AICDA	Ensembl:ENSG00000111732	euGenes: HUgn57379
ECgene: AICDA	Kegg: 57379	H-InvDB: AICDA

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for AICDA	Pharmacogenomics, SNPs, Pathways
AICDAbase	http://bioinf.uta.fi/AICDAbase/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AICDA

Intellectual Property for AICDA gene
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Patent Information for AICDA gene:
Search GeneIP for patents involving AICDA

GeneCards and IP:
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