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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AIP
AHR interacting HSP90 co-chaperone
Chromosome 11 Β· 11q13.2
NCBI Gene: 9049Ensembl: ENSG00000110711.11HGNC: HGNC:358UniProt: A0A804HJ38
209PubMed Papers
21Diseases
0Drugs
67Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein maturationprotein localization to mitochondrionpeptidyl-prolyl cis-trans isomerase activityplasma membranegrowth hormone-secreting pituitary adenomafamilial isolated pituitary adenomagrowth hormone secreting pituitary adenoma 1Pituitary Gland Adenoma
✦AI Summary

AIP (AHR Interacting Protein) is a co-chaperone protein that functions as a negative regulator of cellular signaling and lipid metabolism. Mechanistically, AIP interacts with the Aryl Hydrocarbon Receptor (AHR) and phosphodiesterases (PDE4A5 and PDE2A3) to modulate cAMP signaling pathways 1. In macrophages, AIP suppresses cholesterol-ester accumulation by inhibiting p38-c-JUN-mediated HM13/SPP transactivation via its AHR-chaperone interaction, thereby preventing foamy macrophage formation and reducing atherogenesis 2. Clinically, AIP mutations are associated with familial isolated pituitary adenoma (FIPA), accounting for approximately 20% of cases, typically presenting as somatotropinomas causing gigantism or young-onset acromegaly 1. The tumor suppressor properties of AIP in somatotroph cells involve negative regulation of cAMP signaling. Loss-of-function AIP mutations impair these protective mechanisms, predisposing to pituitary adenoma development. Genetic evaluation of AIP variants through AIP-PDE4A5 interaction studies enhances pathogenicity assessment and enables prospective adenoma diagnosis in mutation carriers, guiding clinical screening and genetic counseling strategies.

Sources cited
1
AIP reduces macrophage cholesterol-ester accumulation and inhibits HM13/SPP transactivation via AHR-chaperone interaction to suppress foamy macrophage formation
PMID: 40112173
2
AIP mutations cause ~20% of familial isolated pituitary adenoma cases, AIP acts as tumor suppressor in somatotrophs through cAMP pathway regulation, and AIP interacts with PDE4A5 and PDE2A3
PMID: 28427099
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
growth hormone-secreting pituitary adenomaOpen Targets
0.76Strong
familial isolated pituitary adenomaOpen Targets
0.70Strong
growth hormone secreting pituitary adenoma 1Open Targets
0.61Moderate
Pituitary Gland AdenomaOpen Targets
0.56Moderate
acromegalyOpen Targets
0.56Moderate
hereditary neoplastic syndromeOpen Targets
0.55Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.55Moderate
Pituitary prolactin cell adenomaOpen Targets
0.47Moderate
pituitary tumorOpen Targets
0.47Moderate
Prolactin-Producing Pituitary Gland AdenomaOpen Targets
0.46Moderate
ACTH-Producing Pituitary Gland AdenomaOpen Targets
0.46Moderate
Cushing syndromeOpen Targets
0.46Moderate
endocrine neoplasmOpen Targets
0.46Moderate
malignant endocrine neoplasmOpen Targets
0.46Moderate
pituitary-dependent Cushing's diseaseOpen Targets
0.17Weak
acroleukopathy, symmetricOpen Targets
0.15Weak
cardiovascular diseaseOpen Targets
0.10Weak
strokeOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
hypertensionOpen Targets
0.09Suggestive
Pituitary adenoma 1, multiple typesUniProt
Pathogenic Variants67
NM_003977.4(AIP):c.910C>T (p.Arg304Ter)Pathogenic
Somatotroph adenoma|Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 304
NM_003977.4(AIP):c.717del (p.Gln239fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 239
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup)Pathogenic
Somatotroph adenoma|Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 269
NM_003977.4(AIP):c.504G>A (p.Trp168Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 168
NM_003977.4(AIP):c.241C>T (p.Arg81Ter)Pathogenic
Somatotroph adenoma|not provided|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 81
NM_003977.4(AIP):c.504_510del (p.Pro167_Trp168insTer)Pathogenic
Somatotroph adenoma|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 167
NM_003977.4(AIP):c.811C>T (p.Arg271Trp)Pathogenic
Somatotroph adenoma|not provided|Hereditary cancer-predisposing syndrome|Familial isolated pituitary adenoma
β˜…β˜…β˜†β˜†2025β†’ Residue 271
NM_003977.4(AIP):c.649C>T (p.Gln217Ter)Pathogenic
Somatotroph adenoma|not provided|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 217
NM_003977.4(AIP):c.376C>T (p.Gln126Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 126
NM_003977.4(AIP):c.40C>T (p.Gln14Ter)Pathogenic
Pituitary adenoma predisposition|Somatotroph adenoma|Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 14
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)Pathogenic
Pituitary adenoma predisposition|Somatotroph adenoma|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 268
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr)Likely pathogenic
Somatotroph adenoma|not provided|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 238
NM_003977.4(AIP):c.863_864del (p.Phe288fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 288
NM_003977.4(AIP):c.99+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_003977.4(AIP):c.788-1G>CLikely pathogenic
Hereditary cancer-predisposing syndrome
β˜…β˜†β˜†β˜†2025
NM_003977.4(AIP):c.745G>T (p.Glu249Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 249
NM_003977.4(AIP):c.99+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_003977.4(AIP):c.535del (p.Val179fs)Pathogenic
Hereditary cancer-predisposing syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 179
NM_003977.4(AIP):c.516_535delinsGAAGGCAAAGGCA (p.Asp172fs)Pathogenic
Hereditary cancer-predisposing syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 172
NM_003977.4(AIP):c.609C>A (p.Tyr203Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 203
View on ClinVar β†—
Related Genes
AHRProtein interaction100%ARNTProtein interaction100%HSP90AA1Protein interaction100%HSP90AB1Protein interaction100%SRCProtein interaction93%PTGES3Protein interaction91%
Tissue Expression6 tissues
Ovary
100%
Lung
91%
Heart
78%
Brain
77%
Liver
64%
Bone Marrow
45%
Gene Interaction Network
Click a node to explore
AIPAHRARNTHSP90AA1HSP90AB1SRCPTGES3
PROTEIN STRUCTURE
Preparing viewer…
PDB4APO Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.63LoF Tolerant
pLIβ“˜
0.28Tolerant
Observed/Expected LoF0.41 [0.28–0.63]
RankingsWhere AIP stands among ~20K protein-coding genes
  • #1,994of 20,598
    Most Researched209 Β· top 10%
  • #1,079of 5,498
    Most Pathogenic Variants67 Β· top quartile
  • #4,402of 17,882
    Most Constrained (LOEUF)0.63 Β· top quartile
Genes detectedAIP
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Association between atherogenic index of plasma and future risk of cardiovascular disease in individuals with cardiovascular-kidney-metabolic syndrome stages 0-3: a nationwide prospective cohort study.
PMID: 39827127
Cardiovasc Diabetol Β· 2025
1.00
2
Autoimmune pancreatitis: Cornerstones and future perspectives.
PMID: 38516247
World J Gastroenterol Β· 2024
0.90
3
Association of atherogenic index of plasma and its modified indices with stroke risk in individuals with cardiovascular-kidney-metabolic syndrome stages 0-3: a longitudinal analysis based on CHARLS.
PMID: 40517240
Cardiovasc Diabetol Β· 2025
0.80
4
Macrophage HM13/SPP Enhances Foamy Macrophage Formation and Atherogenesis.
PMID: 40112173
Adv Sci (Weinh) Β· 2025
0.70
5
Elevated AIP is associated with the prevalence of MAFLD in the US adults: evidence from NHANES 2017-2018.
PMID: 38808115
Front Endocrinol (Lausanne) Β· 2024
0.60