Gene Gene information from NCBI Gene database.
Entrez ID 9049
Gene name AHR interacting HSP90 co-chaperone
Gene symbol AIP
Synonyms (NCBI Gene)
ARA9FKBP16FKBP37PITA1SMTPHNXAP-2XAP2
Chromosome 11
Chromosome location 11q13.2
Summary The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. Th
SNPs SNP information provided by dbSNP.
24
SNP ID Visualize variation Clinical significance Consequence
rs104894190 G>A Pathogenic, conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, drug-response Missense variant, coding sequence variant, 3 prime UTR variant
rs104894194 C>T Pathogenic Genic upstream transcript variant, upstream transcript variant, coding sequence variant, stop gained
rs104894195 C>G,T Pathogenic Missense variant, coding sequence variant, 3 prime UTR variant, stop gained
rs104895072 G>T Likely-pathogenic Coding sequence variant, synonymous variant
rs121908357 C>A,T Pathogenic-likely-pathogenic Synonymous variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
772
miRTarBase ID miRNA Experiments Reference
MIRT484297 hsa-miR-4779 PAR-CLIP 20371350
MIRT484298 hsa-miR-1321 PAR-CLIP 20371350
MIRT484296 hsa-miR-4739 PAR-CLIP 20371350
MIRT484295 hsa-miR-4756-5p PAR-CLIP 20371350
MIRT484294 hsa-miR-4738-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0003712 Function Transcription coregulator activity IEA
GO:0003713 Function Transcription coactivator activity TAS 9447995
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IDA 14557246
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IEA
GO:0005515 Function Protein binding IPI 14557246, 17329248, 19375531, 20029029, 21170051, 21903422, 22113938, 25036637, 28514442, 28634279, 31980649, 33961781, 35271311
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605555 358 ENSG00000110711
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00170
Protein name AH receptor-interacting protein (AIP) (Aryl-hydrocarbon receptor-interacting protein) (HBV X-associated protein 2) (XAP-2) (Immunophilin homolog ARA9)
Protein function May play a positive role in AHR-mediated (aromatic hydrocarbon receptor) signaling, possibly by influencing its receptivity for ligand and/or its nuclear targeting.; Cellular negative regulator of the hepatitis B virus (HBV) X protein.
PDB 2LKN , 4AIF , 4APO , 7ZUB , 8QMO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00254 FKBP_C 26 95 FKBP-type peptidyl-prolyl cis-trans isomerase Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Higher levels seen in the heart, placenta and skeletal muscle. Not expressed in the liver.
Sequence
MADIIARLREDGIQKRVIQEGRGELPDFQDGTKATFHYRTLHSDDEGTVLDDSRARGKPM
ELIIGKKFKLPVWETIVCTMREGEIAQFLCDIKHV
VLYPLVAKSLRNIAVGKDPLEGQRH
CCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESPGTYQQDPWAMTDEEKAKAVP
LIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALAP
VVSRELQALEARIRQKDEEDKARFRGIFSH
Sequence length 330
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cushing syndrome
Chemical carcinogenesis - receptor activation
  Aryl hydrocarbon receptor signalling
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
903
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial isolated pituitary adenoma Likely pathogenic; Pathogenic rs886037871, rs267606579 RCV000240114
RCV005600625
Hereditary cancer-predisposing syndrome Pathogenic; Likely pathogenic rs2134254613, rs2495405821, rs267606576, rs987431392, rs104894194, rs104894195, rs2495401766, rs1459480763, rs2495401581, rs1159928352, rs2495407485, rs267606541, rs267606552, rs104895073, rs267606566
View all (5 more)
RCV004951654
RCV002358357
RCV002412154
RCV002425666
RCV001021869
RCV001018873
RCV003341902
RCV004950592
RCV004516373
RCV004516374
RCV004516391
RCV004619192
RCV005831547
RCV001023250
RCV004018728
RCV004018729
RCV001027111
RCV002415456
RCV001014681
RCV001025263
Pituitary adenoma predisposition Pathogenic rs104894194, rs121908356 RCV000005163
RCV000005170
Somatotroph adenoma Pathogenic; Likely pathogenic rs104894194, rs104894195, rs267606567, rs267606580, rs267606559, rs121908356, rs121908357, rs2495405147, rs2495401264, rs2495409867, rs267606541, rs267606552, rs104895073, rs267606560, rs267606566
View all (4 more)
RCV000508640
RCV000005166
RCV000005167
RCV000005168
RCV000005169
RCV000034106
RCV000005172
RCV003333393
RCV003468096
RCV003460152
RCV000034066
RCV000034078
RCV000034084
RCV000034087
RCV000034093
RCV000034095
RCV000034096
RCV000034107
RCV000034109
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs267606540, rs267606585, rs267606583 -
Acroleukopathy, symmetric Conflicting classifications of pathogenicity rs139459091, rs61741147 RCV000765005
RCV000765006
AIP-related disorder Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign rs747157774, rs770634613, rs755320118, rs539027647, rs769858610, rs104894190, rs267606562, rs116940576, rs147931650, rs35665586, rs1865805178, rs142912418, rs79662690, rs138902236, rs760690172
View all (10 more)
RCV004749668
RCV003965928
RCV003930957
RCV003931134
RCV004749811
RCV004748499
RCV003959664
RCV003920260
RCV003967877
RCV003977888
RCV003966866
RCV003950030
RCV003957581
RCV003409472
RCV004748827
RCV003894847
RCV003924890
RCV003952391
RCV003904890
RCV004748542
RCV003396613
RCV003962996
RCV004749585
RCV003405241
RCV003963205
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs145047094 RCV005888914
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Pain Associate 31125088
Acromegaly Associate 17360484, 17893251, 23300914, 25019383, 25075136, 27253664, 27650164, 28634279, 36757586, 36843582, 40500813
ACTH Secreting Pituitary Adenoma Associate 19556287
Adenocarcinoma Follicular Associate 32333269
Adenoma Associate 17244780, 17360484, 21450940, 29729370, 36843582, 37149543
Adenomatous Polyposis Coli Associate 21450940
Adrenal Gland Neoplasms Associate 19522821
Adrenocortical Carcinoma Associate 20454499
Atherosclerosis Associate 34580389, 37372394
Autoimmune Pancreatitis Associate 19940298