AIDA

Summary

AIDA (axin interactor, dorsalization associated, HGNC:25761) is a protein-coding gene on chromosome 1q41, encoding Axin interactor, dorsalization-associated protein (Q96BJ3). Acts as a ventralizing factor during embryogenesis.

Predicted to enable phosphatidylinositol binding activity. Acts upstream of or within negative regulation of JUN kinase activity. Predicted to be located in cytoplasm. Predicted to be active in membrane.

Source: NCBI Gene 64853 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 45 total — 4 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_022831

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25761
Approved symbol	AIDA
Name	axin interactor, dorsalization associated
Location	1q41
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12806
Ensembl gene	ENSG00000186063
Ensembl biotype	protein_coding
OMIM	612375
Entrez	64853

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000340020, ENST00000355727, ENST00000470437, ENST00000474863, ENST00000495670, ENST00000497112, ENST00000888200, ENST00000888201, ENST00000888202, ENST00000888203, ENST00000888204, ENST00000888205

RefSeq mRNA: 1 — MANE Select: NM_022831 NM_022831

CCDS: CCDS1533

Canonical transcript exons

ENST00000340020 — 10 exons

Exon	Start	End
ENSE00001384229	222712208	222712491
ENSE00003470163	222694210	222694263
ENSE00003470250	222668013	222669989
ENSE00003535514	222686930	222687036
ENSE00003609919	222693789	222693843
ENSE00003610184	222687595	222687658
ENSE00003610860	222676096	222676218
ENSE00003611805	222670133	222670250
ENSE00003613918	222703148	222703217
ENSE00003669185	222673313	222673435

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 99.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.7094 / max 127.9293, expressed in 1789 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17611	14.6205	1787
17612	0.0618	15
17613	0.0270	11

Top tissues by expression

256 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
parietal pleura	UBERON:0002400	99.52	gold quality
pancreatic ductal cell	CL:0002079	99.50	gold quality
visceral pleura	UBERON:0002401	99.43	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.41	gold quality
epithelial cell of pancreas	CL:0000083	99.40	gold quality
germinal epithelium of ovary	UBERON:0001304	99.18	gold quality
left ventricle myocardium	UBERON:0006566	99.02	gold quality
upper arm skin	UBERON:0004263	98.92	gold quality
ileal mucosa	UBERON:0000331	98.70	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.60	gold quality
endothelial cell	CL:0000115	98.56	gold quality
esophagus squamous epithelium	UBERON:0006920	98.52	gold quality
superficial temporal artery	UBERON:0001614	98.51	gold quality
sperm	CL:0000019	98.46	gold quality
kidney epithelium	UBERON:0004819	98.45	gold quality
layer of synovial tissue	UBERON:0007616	98.32	gold quality
skin of hip	UBERON:0001554	98.30	gold quality
cauda epididymis	UBERON:0004360	98.28	gold quality
seminal vesicle	UBERON:0000998	98.26	gold quality
myocardium	UBERON:0002349	98.24	gold quality
trabecular bone tissue	UBERON:0002483	98.22	gold quality
amniotic fluid	UBERON:0000173	98.11	gold quality
decidua	UBERON:0002450	98.10	gold quality
lower lobe of lung	UBERON:0008949	98.08	gold quality
gingival epithelium	UBERON:0001949	98.04	gold quality
entorhinal cortex	UBERON:0002728	98.03	gold quality
palpebral conjunctiva	UBERON:0001812	98.00	gold quality
postcentral gyrus	UBERON:0002581	97.96	gold quality
gingiva	UBERON:0001828	97.86	gold quality
buccal mucosa cell	CL:0002336	97.80	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.56

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

158 targeting AIDA, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548A-5P	99.94	71.27	3482

Literature-anchored findings (GeneRIF, showing 2)

• genetic variant acts in the vascular endothelium to modulate inter-individual risk in coronary artery disease (PMID:31287004)
• MiR-32-5p/AIDA Mediates OxLDL-Induced Endothelial Injury and Inflammation. (PMID:36184552)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	aida	ENSDARG00000014532
mus_musculus	Aida	ENSMUSG00000042901
rattus_norvegicus	Aida	ENSRNOG00000058805

Protein

Protein identifiers

Axin interactor, dorsalization-associated protein — Q96BJ3 (reviewed: Q96BJ3)

Alternative names: Axin interaction partner and dorsalization antagonist

All UniProt accessions (1): Q96BJ3

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a ventralizing factor during embryogenesis. Inhibits axin-mediated JNK activation by binding axin and disrupting axin homodimerization. This in turn antagonizes a Wnt/beta-catenin-independent dorsalization pathway activated by AXIN/JNK-signaling.

Subunit / interactions. Interacts with AXIN1.

Tissue specificity. Widely expressed in adult tissues, with highest expression in the heart and skeletal muscle.

Similarity. Belongs to the AIDA family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q96BJ3-1	1	yes
Q96BJ3-2	2
Q96BJ3-3	3

RefSeq proteins (1): NP_073742* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR023421	AIDA_N	Domain
IPR025939	Aida_C	Domain
IPR035892	C2_domain_sf	Homologous_superfamily
IPR036818	AIDA_N_sf	Homologous_superfamily

Pfam: PF08910, PF14186

UniProt features (10 total): region of interest 2, splice variant 2, chain 1, domain 1, coiled-coil region 1, compositionally biased region 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96BJ3-F1	86.37	0.72

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 144

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 240 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_UP, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_NEGATIVE_REGULATION_OF_MAP_KINASE_ACTIVITY, GCM_MAP4K4, GOBP_REGULATION_OF_PHOSPHORYLATION, GOBP_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, GOBP_NEGATIVE_REGULATION_OF_JUN_KINASE_ACTIVITY, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_MAPK_CASCADE, GOBP_DORSAL_VENTRAL_PATTERN_FORMATION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_SPECIFICATION_OF_SYMMETRY, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1

GO Biological Process (6): dorsal/ventral pattern formation (GO:0009953), negative regulation of protein-containing complex assembly (GO:0031333), negative regulation of JUN kinase activity (GO:0043508), negative regulation of JNK cascade (GO:0046329), determination of ventral identity (GO:0048264), regulation of protein-containing complex assembly (GO:0043254)

GO Molecular Function (3): protein domain specific binding (GO:0019904), phosphatidylinositol binding (GO:0035091), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein-containing complex assembly	2
cellular anatomical structure	2
regionalization	1
regulation of protein-containing complex assembly	1
negative regulation of cellular component organization	1
JUN kinase activity	1
negative regulation of MAP kinase activity	1
regulation of JUN kinase activity	1
negative regulation of JNK cascade	1
JNK cascade	1
negative regulation of MAPK cascade	1
regulation of JNK cascade	1
dorsal/ventral pattern formation	1
determination of dorsal/ventral asymmetry	1
regulation of cellular component biogenesis	1
regulation of cellular component organization	1
protein binding	1
anion binding	1
binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

286 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AIDA	PAGE2B	Q5JRK9	447
AIDA	AXIN1	O15169	432
AIDA	NAT14	Q8WUY8	412
AIDA	DHRS7	Q9Y394	368
AIDA	ENDOD1	O94919	354
AIDA	MAPK8	P45983	337
AIDA	DST	Q03001	314
AIDA	PLA2G1B	P04054	296
AIDA	PAFAH1B1	P43034	292
AIDA	SF3A2	Q15428	290
AIDA	SARAF	Q96BY9	290
AIDA	OR51E2	Q9H255	286
AIDA	ABCE1	P61221	277
AIDA	CDC50A	Q9NV96	275
AIDA	VPS13B	Q7Z7G8	275

IntAct

58 interactions, top by confidence:

A	B	Type	Score
AIDA	FAM118A	psi-mi:“MI:0915”(physical association)	0.720
FAM118A	AIDA	psi-mi:“MI:0915”(physical association)	0.720
NFKBIA	POLRMT	psi-mi:“MI:0914”(association)	0.670
AIDA	PINX1	psi-mi:“MI:0915”(physical association)	0.670
AIDA	LNX1	psi-mi:“MI:0915”(physical association)	0.560
LNX1	AIDA	psi-mi:“MI:0915”(physical association)	0.560
AIDA	DDX41	psi-mi:“MI:0915”(physical association)	0.560
EMSY	AIDA	psi-mi:“MI:0915”(physical association)	0.560
AIDA	DDIT4L	psi-mi:“MI:0915”(physical association)	0.560
RPL36A	AIDA	psi-mi:“MI:0915”(physical association)	0.560
SLC25A41	NUDT19	psi-mi:“MI:0914”(association)	0.530
TNFAIP3	UBB	psi-mi:“MI:0914”(association)	0.530
FSD1	UBFD1	psi-mi:“MI:0914”(association)	0.530
TMEM185A	TSPAN6	psi-mi:“MI:0914”(association)	0.530
AIDA	E2	psi-mi:“MI:0915”(physical association)	0.490
AIDA	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
AIDA	AIDA	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (48): AIDA (Two-hybrid), AIDA (Two-hybrid), LNX1 (Two-hybrid), AIDA (Two-hybrid), AIDA (Affinity Capture-MS), AIDA (Affinity Capture-MS), AIDA (Affinity Capture-MS), AIDA (Affinity Capture-MS), AIDA (Co-fractionation), PLEKHF2 (Two-hybrid), AIDA (Affinity Capture-MS), AIDA (Affinity Capture-MS), AIDA (Affinity Capture-MS), AIDA (Affinity Capture-MS), AIDA (Affinity Capture-MS)

ESM2 similar proteins: A0A1B7XV12, A3GFU8, A5DK05, A5DWI6, A5PF44, A7KAJ7, A7TJM4, A8PJX4, A8WXX7, B3MZY6, F4HVA6, H2KZB2, O59800, O94817, P0C075, P87068, Q10931, Q18691, Q2TBJ5, Q3T0W7, Q3V0G7, Q3V2K1, Q5QFG1, Q5R7W1, Q5RAV3, Q5VVW2, Q62625, Q6BT31, Q6BZZ1, Q6C4Q6, Q6CUD5, Q6DTM3, Q6FMM7, Q6PB19, Q6PBN2, Q6XL73, Q75EB4, Q7LKZ5, Q8C4Q6, Q8CDA1

Diamond homologs: Q4R8C7, Q5RAV3, Q6PAW0, Q6PB19, Q6PBN2, Q8C4Q6, Q96BJ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

45 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	1
Uncertain significance	30
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1199386	Single allele	Pathogenic
146516	GRCh38/hg38 1q41(chr1:220673535-223683512)x1	Pathogenic
4682498	GRCh37/hg19 1q41(chr1:218253812-223932158)x1	Pathogenic
814162	GRCh37/hg19 1q41-42.11(chr1:219734913-224104993)x1	Pathogenic
146329	GRCh38/hg38 1q41(chr1:222676842-223882311)x1	Likely pathogenic

SpliceAI

1451 predictions. Top by Δscore:

Variant	Effect	Δscore
1:222670131:A:AC	donor_gain	1.0000
1:222670132:C:CC	donor_gain	1.0000
1:222670132:CAGTT:C	donor_gain	1.0000
1:222673309:AAAC:A	donor_loss	1.0000
1:222673310:AAC:A	donor_loss	1.0000
1:222673311:A:T	donor_loss	1.0000
1:222673431:CAGAT:C	acceptor_gain	1.0000
1:222673432:AGAT:A	acceptor_gain	1.0000
1:222673433:GAT:G	acceptor_gain	1.0000
1:222673433:GATC:G	acceptor_loss	1.0000
1:222673434:AT:A	acceptor_gain	1.0000
1:222673434:ATCTA:A	acceptor_loss	1.0000
1:222673436:C:CC	acceptor_gain	1.0000
1:222676094:A:AC	donor_gain	1.0000
1:222676094:AC:A	donor_gain	1.0000
1:222676094:ACC:A	donor_gain	1.0000
1:222676094:ACCCT:A	donor_loss	1.0000
1:222676095:C:CA	donor_loss	1.0000
1:222676095:C:CC	donor_gain	1.0000
1:222676095:CC:C	donor_gain	1.0000
1:222676095:CCC:C	donor_gain	1.0000
1:222676095:CCCTT:C	donor_gain	1.0000
1:222676214:AGTAC:A	acceptor_gain	1.0000
1:222676215:GTAC:G	acceptor_gain	1.0000
1:222676216:TAC:T	acceptor_gain	1.0000
1:222676219:C:G	acceptor_loss	1.0000
1:222676224:A:T	acceptor_gain	1.0000
1:222686926:CTA:C	donor_loss	1.0000
1:222686927:TA:T	donor_loss	1.0000
1:222686928:A:AC	donor_gain	1.0000

AlphaMissense

2018 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:222669924:A:G	L297P	1.000
1:222669962:T:A	R284S	1.000
1:222669962:T:G	R284S	1.000
1:222670183:A:C	F258L	1.000
1:222670183:A:T	F258L	1.000
1:222670185:A:G	F258L	1.000
1:222670186:A:C	C257W	1.000
1:222670188:A:G	C257R	1.000
1:222670195:G:C	S254R	1.000
1:222670195:G:T	S254R	1.000
1:222670197:T:G	S254R	1.000
1:222670216:C:A	K247N	1.000
1:222670216:C:G	K247N	1.000
1:222670218:T:C	K247E	1.000
1:222676149:C:T	G177D	1.000
1:222703203:A:G	L42P	1.000
1:222712227:C:G	A31P	1.000
1:222712241:C:A	G26V	1.000
1:222712241:C:T	G26D	1.000
1:222712242:C:A	G26C	1.000
1:222712242:C:G	G26R	1.000
1:222712243:C:A	W25C	1.000
1:222712243:C:G	W25C	1.000
1:222712245:A:G	W25R	1.000
1:222712245:A:T	W25R	1.000
1:222712284:A:G	W12R	1.000
1:222712284:A:T	W12R	1.000
1:222669918:A:G	L299P	0.999
1:222669924:A:C	L297R	0.999
1:222669924:A:T	L297H	0.999

dbSNP variants (sampled 300 via entrez): RS1000015069 (1:222706480 T>C), RS1000081598 (1:222689710 A>C,G), RS1000095755 (1:222711862 G>A), RS1000164543 (1:222699681 T>C), RS1000175183 (1:222696776 T>C), RS1000350703 (1:222693028 A>C), RS1000422565 (1:222692685 A>G), RS1000437296 (1:222696993 T>C), RS1000504434 (1:222698257 T>A), RS1000516370 (1:222679512 C>T), RS1000538332 (1:222705323 TCTAA>T), RS1000682427 (1:222673022 C>T), RS1000861881 (1:222710208 C>T), RS1000973182 (1:222691461 C>A), RS1001039894 (1:222686233 G>A)

Disease associations

OMIM: gene MIM:612375 | disease phenotypes: MIM:614816

GenCC curated gene-disease

Mondo (1): Loeys-Dietz syndrome 4 (MONDO:0013897)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005194_20	Coronary artery disease	9.000000e-28

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

7 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2378597	AIDA		0.00	0
rs3008634	AIDA		0.00	0
rs3748631	AIDA, BROX		0.00	0
rs17011686	AIDA		0.00	0
rs17163429	AIDA		0.00	0
rs35684750	AIDA		0.00	0
rs35762933	AIDA, BROX		0.00	0

CTD chemical–gene interactions

32 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression	2
aristolochic acid I	decreases expression, increases expression	1
bisphenol F	affects cotreatment, decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
salinomycin	decreases expression	1
arsenite	affects binding, decreases reaction	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	increases expression, affects cotreatment	1
chloropicrin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
Temozolomide	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Arsenic	increases abundance, increases expression	1
Dexamethasone	affects cotreatment, increases expression, decreases expression	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, increases expression, decreases expression	1
Ivermectin	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression, decreases expression	1
Metribolone	increases expression	1
Sodium Selenite	increases expression	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.