FKBP15
gene geneOn this page
Also known as PPP1R76FKBP133WAFL
Summary
FKBP15 (FKBP prolyl isomerase family member 15, HGNC:23397) is a protein-coding gene on chromosome 9q32, encoding FK506-binding protein 15 (Q5T1M5). May be involved in the cytoskeletal organization of neuronal growth cones.
Predicted to enable actin binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in endocytosis. Located in membrane.
Source: NCBI Gene 23307 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 211 total
- MANE Select transcript:
NM_015258
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23397 |
| Approved symbol | FKBP15 |
| Name | FKBP prolyl isomerase family member 15 |
| Location | 9q32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PPP1R76, FKBP133, WAFL |
| Ensembl gene | ENSG00000119321 |
| Ensembl biotype | protein_coding |
| OMIM | 617398 |
| Entrez | 23307 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 11 protein_coding, 10 nonsense_mediated_decay, 6 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000238256, ENST00000414250, ENST00000446284, ENST00000462889, ENST00000489645, ENST00000493847, ENST00000685068, ENST00000685945, ENST00000686727, ENST00000686828, ENST00000687395, ENST00000688113, ENST00000688949, ENST00000689059, ENST00000689480, ENST00000690399, ENST00000690630, ENST00000691254, ENST00000691776, ENST00000691917, ENST00000692890, ENST00000693271, ENST00000693409, ENST00000852798, ENST00000852799, ENST00000937400, ENST00000937401, ENST00000947249
RefSeq mRNA: 1 — MANE Select: NM_015258
NM_015258
CCDS: CCDS48007
Canonical transcript exons
ENST00000238256 — 28 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001691631 | 113221191 | 113221277 |
| ENSE00003473361 | 113211477 | 113211592 |
| ENSE00003479758 | 113207212 | 113207296 |
| ENSE00003548766 | 113186249 | 113186363 |
| ENSE00003549454 | 113184695 | 113184804 |
| ENSE00003657296 | 113187793 | 113187899 |
| ENSE00003678475 | 113184292 | 113184399 |
| ENSE00003889744 | 113173453 | 113173605 |
| ENSE00003889787 | 113183751 | 113183845 |
| ENSE00003889969 | 113202961 | 113203035 |
| ENSE00003890390 | 113174428 | 113174583 |
| ENSE00003890565 | 113171581 | 113171706 |
| ENSE00003890940 | 113169224 | 113169942 |
| ENSE00003891780 | 113161006 | 113166155 |
| ENSE00003891833 | 113176537 | 113176673 |
| ENSE00003892068 | 113193492 | 113193549 |
| ENSE00003892157 | 113194027 | 113194169 |
| ENSE00003892217 | 113182766 | 113182868 |
| ENSE00003892412 | 113198855 | 113198923 |
| ENSE00003892649 | 113178630 | 113178801 |
| ENSE00003892809 | 113190471 | 113190578 |
| ENSE00003893890 | 113188389 | 113188491 |
| ENSE00003894195 | 113199814 | 113199963 |
| ENSE00003894511 | 113202531 | 113202629 |
| ENSE00003894545 | 113206509 | 113206578 |
| ENSE00003894915 | 113170522 | 113170629 |
| ENSE00003895312 | 113196932 | 113197078 |
| ENSE00003895937 | 113168460 | 113168556 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 95.01.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.7676 / max 247.0974, expressed in 1819 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102089 | 16.4021 | 1807 |
| 102090 | 7.6708 | 1768 |
| 102092 | 3.2442 | 1467 |
| 102086 | 2.9359 | 542 |
| 102093 | 1.1845 | 716 |
| 102091 | 1.1322 | 629 |
| 102087 | 0.8200 | 179 |
| 102085 | 0.3779 | 118 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| monocyte | CL:0000576 | 95.01 | gold quality |
| mononuclear cell | CL:0000842 | 95.01 | gold quality |
| leukocyte | CL:0000738 | 94.76 | gold quality |
| olfactory bulb | UBERON:0002264 | 93.14 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 92.30 | gold quality |
| granulocyte | CL:0000094 | 92.08 | gold quality |
| type B pancreatic cell | CL:0000169 | 92.07 | gold quality |
| cardia of stomach | UBERON:0001162 | 91.46 | gold quality |
| blood | UBERON:0000178 | 91.32 | gold quality |
| superficial temporal artery | UBERON:0001614 | 90.96 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 90.57 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 90.54 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 90.49 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 90.41 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 90.30 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 89.95 | gold quality |
| diaphragm | UBERON:0001103 | 89.94 | gold quality |
| vena cava | UBERON:0004087 | 89.84 | silver quality |
| inferior vagus X ganglion | UBERON:0005363 | 89.79 | gold quality |
| superior surface of tongue | UBERON:0007371 | 89.68 | gold quality |
| hair follicle | UBERON:0002073 | 89.67 | silver quality |
| pylorus | UBERON:0001166 | 89.41 | gold quality |
| cervix epithelium | UBERON:0004801 | 89.28 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 89.25 | gold quality |
| penis | UBERON:0000989 | 89.09 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 89.09 | gold quality |
| ventral tegmental area | UBERON:0002691 | 89.04 | gold quality |
| synovial joint | UBERON:0002217 | 88.86 | gold quality |
| body of tongue | UBERON:0011876 | 88.84 | gold quality |
| tongue | UBERON:0001723 | 88.79 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 13.97 |
| E-MTAB-9543 | yes | 13.69 |
| E-ANND-3 | yes | 12.75 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
32 targeting FKBP15, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-7974 | 99.24 | 65.48 | 1137 |
| HSA-MIR-4477B | 99.23 | 70.49 | 1733 |
| HSA-MIR-296-3P | 99.21 | 66.56 | 474 |
| HSA-MIR-4528 | 99.18 | 69.77 | 1936 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-3168 | 99.08 | 67.75 | 1384 |
| HSA-MIR-622 | 98.99 | 66.48 | 1050 |
| HSA-MIR-4709-3P | 98.88 | 68.04 | 1594 |
| HSA-MIR-6754-3P | 98.84 | 66.60 | 889 |
| HSA-MIR-4635 | 98.74 | 67.63 | 1339 |
| HSA-MIR-6761-5P | 98.71 | 68.03 | 1504 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-4726-3P | 98.49 | 63.89 | 1385 |
| HSA-MIR-6867-3P | 98.12 | 66.07 | 1305 |
| HSA-MIR-4287 | 97.55 | 67.24 | 1247 |
| HSA-MIR-4685-3P | 97.55 | 67.35 | 1255 |
| HSA-MIR-643 | 97.35 | 67.91 | 805 |
Literature-anchored findings (GeneRIF, showing 2)
- findings are compatible with a model whereby WAFL is involved in the transport of early endosomes at the level of transition between microfilament-based and microtubule-based movement. (PMID:19121306)
- WAFL may play an important role in endocytosis and subsequent membrane trafficking by interacting with AP2 through KIAA0196 and KIAA1033 (PMID:20376207)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fkbp15a | ENSDARG00000095142 |
| danio_rerio | fkbp15b | ENSDARG00000099294 |
| mus_musculus | Fkbp15 | ENSMUSG00000066151 |
| rattus_norvegicus | Fkbp15 | ENSRNOG00000024663 |
| caenorhabditis_elegans | WBGENE00001429 | |
| caenorhabditis_elegans | fkb-5 | WBGENE00001430 |
Paralogs (18): FKBP4 (ENSG00000004478), FKBP6 (ENSG00000077800), FKBP7 (ENSG00000079150), FKBP1A (ENSG00000088832), FKBP5 (ENSG00000096060), FKBP3 (ENSG00000100442), FKBP8 (ENSG00000105701), FKBP14 (ENSG00000106080), FKBP1B (ENSG00000119782), FKBP9 (ENSG00000122642), TTC9 (ENSG00000133985), FKBP11 (ENSG00000134285), FKBP10 (ENSG00000141756), TTC9C (ENSG00000162222), FKBP2 (ENSG00000173486), TTC9B (ENSG00000174521), FKBP1C (ENSG00000198225), FKBPL (ENSG00000204315)
Protein
Protein identifiers
FK506-binding protein 15 — Q5T1M5 (reviewed: Q5T1M5)
Alternative names: 133 kDa FK506-binding protein, WASP- and FKBP-like protein
All UniProt accessions (11): A0A8I5KQM8, A0A8I5KRH4, A0A8I5KRZ8, A0A8I5KUP6, A0A8I5KV70, A0A8I5KX71, A0A8I5KXA6, Q5T1M5, A0A8I5KXH0, A0A8I5QJ94, A0A8I5QJL3
UniProt curated annotations — full annotation on UniProt →
Function. May be involved in the cytoskeletal organization of neuronal growth cones. Seems to be inactive as a PPIase. Involved in the transport of early endosomes at the level of transition between microfilament-based and microtubule-based movement.
Subunit / interactions. Interacts with WIP and actin. Interacts with TBC1D23.
Subcellular location. Cytoplasm. Cell projection. Axon. Early endosome.
Domain organisation. The PPIase FKBP-type domain seems to be inactive both for FK506-binding and enzymatic activity. The central coiled-coil region is responsible for association with early endosomes.
Similarity. Belongs to the FKBP-type PPIase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5T1M5-1 | 1 | yes |
| Q5T1M5-2 | 2 | |
| Q5T1M5-3 | 3 |
RefSeq proteins (1): NP_056073* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001179 | PPIase_FKBP_dom | Domain |
| IPR046357 | PPIase_dom_sf | Homologous_superfamily |
| IPR056598 | FKBP-15_dom | Domain |
Pfam: PF00254, PF23649
UniProt features (54 total): modified residue 29, compositionally biased region 6, region of interest 6, sequence variant 5, coiled-coil region 3, splice variant 3, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T1M5-F1 | 64.81 | 0.30 |
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 (29): 1, 14, 23, 92, 307, 311, 326, 344, 346, 356, 619, 939, 940, 941, 956, 979, 1024, 1056, 1061, 1065 …
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 139 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_VESICLE_MEDIATED_TRANSPORT, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GNF2_MYD88, MORF_PML, GOMF_ACTIN_BINDING, SENESE_HDAC1_TARGETS_UP, GOCC_NEURON_PROJECTION, MARTINEZ_RESPONSE_TO_TRABECTEDIN_DN, MORF_IKBKG, GOBP_IMPORT_INTO_CELL, GOBP_ENDOCYTOSIS, OSMAN_BLADDER_CANCER_DN, MARSON_BOUND_BY_E2F4_UNSTIMULATED, GOCC_AXON
GO Biological Process (1): endocytosis (GO:0006897)
GO Molecular Function (4): peptidyl-prolyl cis-trans isomerase activity (GO:0003755), actin binding (GO:0003779), protein binding (GO:0005515), isomerase activity (GO:0016853)
GO Cellular Component (8): early endosome (GO:0005769), actin cytoskeleton (GO:0015629), membrane (GO:0016020), growth cone (GO:0030426), cytoplasm (GO:0005737), endosome (GO:0005768), axon (GO:0030424), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| vesicle budding from membrane | 1 |
| membrane invagination | 1 |
| vesicle-mediated transport | 1 |
| import into cell | 1 |
| cis-trans isomerase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| endosome | 1 |
| cytoskeleton | 1 |
| site of polarized growth | 1 |
| distal axon | 1 |
| intracellular anatomical structure | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| neuron projection | 1 |
Protein interactions and networks
STRING
1022 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FKBP15 | WASHC4 | Q2M389 | 739 |
| FKBP15 | TBC1D5 | Q92609 | 709 |
| FKBP15 | WASHC5 | Q12768 | 705 |
| FKBP15 | WASHC2C | Q9Y4E1 | 705 |
| FKBP15 | VPS29 | Q9UBQ0 | 591 |
| FKBP15 | WASHC2A | Q641Q2 | 585 |
| FKBP15 | CAPZA1 | P52907 | 550 |
| FKBP15 | WASHC1 | A8K0Z3 | 536 |
| FKBP15 | TBC1D23 | Q9NUY8 | 534 |
| FKBP15 | CCDC93 | Q567U6 | 520 |
| FKBP15 | FKBP7 | Q9Y680 | 513 |
| FKBP15 | CCDC22 | O60826 | 496 |
| FKBP15 | EHD1 | Q9H4M9 | 491 |
| FKBP15 | TCP10L | Q8TDR4 | 487 |
| FKBP15 | WASHC3 | Q9Y3C0 | 461 |
IntAct
84 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| STRN3 | STRN | psi-mi:“MI:2364”(proximity) | 0.880 |
| VPS29 | VPS26C | psi-mi:“MI:0914”(association) | 0.760 |
| WWOX | ENTREP3 | psi-mi:“MI:0914”(association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| FKBP15 | VPS35 | psi-mi:“MI:0403”(colocalization) | 0.640 |
| WWOX | DVL2 | psi-mi:“MI:0914”(association) | 0.560 |
| Vps29 | FKBP15 | psi-mi:“MI:0915”(physical association) | 0.550 |
| rep | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| STX11 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| NUP62 | RGPD8 | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| COMMD10 | VPS26C | psi-mi:“MI:0914”(association) | 0.530 |
| ITPRID2 | PIGR | psi-mi:“MI:0914”(association) | 0.530 |
| ZYX | TBC1D10B | psi-mi:“MI:0914”(association) | 0.530 |
| WASHC3 | WASH3P | psi-mi:“MI:0914”(association) | 0.530 |
| ITPRID2 | CBL | psi-mi:“MI:0914”(association) | 0.530 |
| AIPL1 | SUPT5H | psi-mi:“MI:0914”(association) | 0.510 |
| FKBP15 | Vps35 | psi-mi:“MI:0915”(physical association) | 0.480 |
| Vps35 | FKBP15 | psi-mi:“MI:0915”(physical association) | 0.480 |
| PPP1CA | FKBP15 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FKBP15 | WASHC1 | psi-mi:“MI:0403”(colocalization) | 0.430 |
| FKBP15 | DPEP1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBP15 | WASHC2C | psi-mi:“MI:0915”(physical association) | 0.370 |
| FKBP15 | FKBP15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CTR9 | POLR2B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (143): FKBP15 (Affinity Capture-MS), FKBP15 (Affinity Capture-MS), FKBP15 (Affinity Capture-MS), FKBP15 (Proximity Label-MS), FKBP15 (Affinity Capture-MS), FKBP15 (Affinity Capture-MS), FKBP15 (Affinity Capture-MS), FKBP15 (Affinity Capture-MS), FKBP15 (Affinity Capture-MS), FKBP15 (Affinity Capture-MS), KIAA0196 (Affinity Capture-Western), FKBP15 (Affinity Capture-Western), KIAA1033 (Affinity Capture-MS), TTBK2 (Affinity Capture-MS), KIAA0196 (Affinity Capture-MS)
ESM2 similar proteins: A0A7P0TBJ1, A0A804C8T0, A1YB07, A2RRV3, A4IG66, A4IIE8, D4A4K3, O35625, O70239, P57095, Q02225, Q08AY9, Q09YK4, Q09YM8, Q0VDN7, Q108T9, Q1JPG0, Q1LXR6, Q2IBF8, Q2KJD6, Q2QL82, Q2QLF8, Q2QLG9, Q32N92, Q503U3, Q58D79, Q5BLE2, Q5T1M5, Q5XJS0, Q62141, Q6DFB7, Q6GR21, Q6NRB7, Q6P7D5, Q6P9Q6, Q7L4E1, Q86YS3, Q8BHS8, Q8BK03, Q8BQP8
Diamond homologs: G0SC91, O04287, O42123, O42993, O46638, O60046, O74191, O94746, P0A0W2, P0A0W3, P0C1B0, P0C1J3, P0C1J5, P0C1J6, P0C1J7, P0CP94, P0CP95, P0CP96, P0CP97, P0CP98, P0CP99, P0CY37, P18203, P20080, P20081, P26883, P26884, P26885, P27124, P30416, P38911, P45878, P48375, P54397, P56989, P62942, P62943, P68106, P68107, P97534
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FKBP15 | “up-regulates activity” | ACTB | binding |
| FKBP15 | “up-regulates activity” | WIPF1 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 97 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| endocytic recycling | 7 | 23.1× | 1e-05 |
| retrograde transport, endosome to Golgi | 7 | 17.8× | 2e-05 |
| exocytosis | 8 | 15.0× | 2e-05 |
| protein transport | 11 | 6.0× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
211 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 160 |
| Likely benign | 12 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4242 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:113168557:C:CC | acceptor_gain | 1.0000 |
| 9:113169939:CCAT:C | acceptor_gain | 1.0000 |
| 9:113169940:CATC:C | acceptor_gain | 1.0000 |
| 9:113169943:C:CC | acceptor_gain | 1.0000 |
| 9:113170516:CTGTA:C | donor_loss | 1.0000 |
| 9:113170517:TGTA:T | donor_loss | 1.0000 |
| 9:113170518:GTAC:G | donor_loss | 1.0000 |
| 9:113170519:TA:T | donor_loss | 1.0000 |
| 9:113170521:C:CT | donor_loss | 1.0000 |
| 9:113170625:TTGAC:T | acceptor_gain | 1.0000 |
| 9:113170626:TGAC:T | acceptor_gain | 1.0000 |
| 9:113170627:GAC:G | acceptor_gain | 1.0000 |
| 9:113170628:AC:A | acceptor_gain | 1.0000 |
| 9:113170629:CCTG:C | acceptor_gain | 1.0000 |
| 9:113170630:C:CA | acceptor_loss | 1.0000 |
| 9:113170630:C:CC | acceptor_gain | 1.0000 |
| 9:113170631:T:C | acceptor_loss | 1.0000 |
| 9:113170632:G:C | acceptor_gain | 1.0000 |
| 9:113170632:G:GC | acceptor_gain | 1.0000 |
| 9:113170634:G:C | acceptor_gain | 1.0000 |
| 9:113170639:C:CT | acceptor_gain | 1.0000 |
| 9:113170640:A:T | acceptor_gain | 1.0000 |
| 9:113171576:CTCA:C | donor_loss | 1.0000 |
| 9:113171577:TCA:T | donor_loss | 1.0000 |
| 9:113171578:CA:C | donor_loss | 1.0000 |
| 9:113171579:A:T | donor_loss | 1.0000 |
| 9:113171580:C:CA | donor_loss | 1.0000 |
| 9:113171580:CCTT:C | donor_gain | 1.0000 |
| 9:113171702:AAACA:A | acceptor_gain | 1.0000 |
| 9:113171703:AACA:A | acceptor_gain | 1.0000 |
AlphaMissense
7958 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:113197035:C:G | R254P | 0.998 |
| 9:113202581:A:G | W150R | 0.998 |
| 9:113202581:A:T | W150R | 0.998 |
| 9:113207227:A:T | V80D | 0.998 |
| 9:113182780:C:G | A634P | 0.997 |
| 9:113183769:A:G | L598P | 0.997 |
| 9:113202578:A:G | S151P | 0.997 |
| 9:113206534:A:T | V100D | 0.997 |
| 9:113206538:C:G | A99P | 0.997 |
| 9:113184705:A:G | L533P | 0.996 |
| 9:113176565:A:G | L732P | 0.995 |
| 9:113190544:C:G | R367P | 0.995 |
| 9:113190553:A:G | L364S | 0.995 |
| 9:113199953:G:T | A170D | 0.995 |
| 9:113178774:C:G | A648P | 0.994 |
| 9:113190539:C:G | A369P | 0.994 |
| 9:113190541:A:G | M368T | 0.994 |
| 9:113190550:A:G | I365T | 0.994 |
| 9:113190550:A:T | I365N | 0.994 |
| 9:113198887:G:T | R229S | 0.994 |
| 9:113202541:A:G | F163S | 0.994 |
| 9:113207221:G:T | A82E | 0.994 |
| 9:113184302:C:G | R569P | 0.993 |
| 9:113202598:T:A | D144V | 0.993 |
| 9:113202599:C:G | D144H | 0.993 |
| 9:113176574:A:G | L729P | 0.992 |
| 9:113184739:C:G | A522P | 0.992 |
| 9:113190538:G:T | A369D | 0.992 |
| 9:113190550:A:C | I365S | 0.992 |
| 9:113202567:A:C | F154L | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000063211 (9:113212751 C>T), RS1000092763 (9:113167206 T>C), RS1000097616 (9:113212990 T>C), RS1000118432 (9:113162019 G>C), RS1000165771 (9:113212390 T>C), RS1000167199 (9:113173836 G>A,T), RS1000202125 (9:113219007 A>G), RS1000222147 (9:113185382 C>T), RS1000262391 (9:113174297 A>T), RS1000281414 (9:113212595 CTT>C), RS1000413814 (9:113206713 T>A,C), RS1000445174 (9:113174802 A>G), RS1000503265 (9:113166215 C>T), RS1000658150 (9:113188803 T>C), RS1000774911 (9:113172900 G>C)
Disease associations
OMIM: gene MIM:617398 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
4 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs10981694 | FKBP15, SLC31A1 | 3 | 0.50 | 1 | cisplatin |
| rs4979223 | FKBP15, SLC31A1 | 3 | 5.75 | 1 | Platinum compounds |
| rs4978536 | FKBP15, SLC31A1 | 3 | 2.50 | 1 | Platinum compounds |
| rs2233914 | FKBP15, SLC31A1 | 3 | 5.50 | 1 | Platinum compounds |
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation | 2 |
| sodium arsenite | increases abundance, increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | increases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Doxorubicin | decreases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Formaldehyde | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Methamphetamine | affects response to substance | 1 |
| Nickel | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Palmitic Acid | decreases phosphorylation | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SN59 | HAP1 FKBP15 (-) 1 | Cancer cell line | Male |
| CVCL_SN60 | HAP1 FKBP15 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.