AIP (AHR interacting HSP90 co-chaperone)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9049
Gene name Gene Name - the full gene name approved by the HGNC.
AHR interacting HSP90 co-chaperone
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
AIP
Synonyms (NCBI Gene) Gene synonyms aliases
ARA9, FKBP16, FKBP37, PITA1, SMTPHN, XAP-2, XAP2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605555 358 ENSG00000110711
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
ELIIGKKFKLPVWETIVCTMREGEIAQFLCDIKHVVLYPLVAKSLRNIAVGKDPLEGQRH
CCGVAQMREHSSLGHADLDALQQNPQPLIFHMEMLKVESPGTYQQDPWAMTDEEKAKAVP
LIHQEGNRLYREGHVKEAAAKYYDAIACLKNLQMKEQPGSPEWIQLDQQITPLLLNYCQC
KLVVEEYYEVLDHCSSILNKYDDNVKAYFKRGKAHAAVWNAQEAQADFAKVLELDPALAP
VVSRELQALEARIRQKDEEDKARFRGIFSH
Sequence length 330
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cushing syndrome
Chemical carcinogenesis - receptor activation 		  Aryl hydrocarbon receptor signalling
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pituitary adenoma Pituitary adenoma predisposition, familial isolated pituitary adenoma rs104894194, rs121908356, rs886037871 N/A
somatotroph adenoma Somatotroph adenoma rs121908356, rs121908357, rs267606541, rs104895073, rs267606560, rs104894194, rs267606566, rs104894195, rs267606568, rs267606567, rs267606569, rs267606580, rs267606578, rs267606559, rs267606579 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Acromegaly acromegaly N/A N/A GenCC
pituitary dependent hypercortisolism Pituitary dependent hypercortisolism N/A N/A ClinVar
Pituitary Gigantism pituitary gigantism N/A N/A GenCC
Show/Hide Text Mining Associations (45)
Associations from Text Mining Disease 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