FKBPL

gene
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Also known as DIR1NG7WISp39

Summary

FKBPL (FKBP prolyl isomerase like, HGNC:13949) is a protein-coding gene on chromosome 6p21.32, encoding FK506-binding protein-like (Q9UIM3). May be involved in response to X-ray.

The protein encoded by this gene has similarity to the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. The encoded protein is thought to have a potential role in the induced radioresistance. Also it appears to have some involvement in the control of the cell cycle.

Source: NCBI Gene 63943 — RefSeq curated summary.

At a glance

  • GWAS associations: 22
  • Clinical variants (ClinVar): 42 total
  • MANE Select transcript: NM_022110

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:13949
Approved symbolFKBPL
NameFKBP prolyl isomerase like
Location6p21.32
Locus typegene with protein product
StatusApproved
AliasesDIR1, NG7, WISp39
Ensembl geneENSG00000204315
Ensembl biotypeprotein_coding
OMIM617076
Entrez63943

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000375156, ENST00000887777, ENST00000930347, ENST00000930348, ENST00000930349, ENST00000958763

RefSeq mRNA: 1 — MANE Select: NM_022110 NM_022110

CCDS: CCDS4738

Canonical transcript exons

ENST00000375156 — 2 exons

ExonStartEnd
ENSE000018648783213009532130288
ENSE000019014203212870732129854

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 85.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.2412 / max 48.9123, expressed in 1459 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
728882.53911363
728870.7020394

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047385.31gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099183.87gold quality
lower esophagus mucosaUBERON:003583482.42gold quality
esophagus mucosaUBERON:000246979.16gold quality
skin of legUBERON:000151178.09gold quality
zone of skinUBERON:000001477.55gold quality
granulocyteCL:000009477.09gold quality
skin of abdomenUBERON:000141676.95gold quality
mucosa of transverse colonUBERON:000499176.89gold quality
islet of LangerhansUBERON:000000676.42gold quality
apex of heartUBERON:000209875.82gold quality
body of stomachUBERON:000116175.48gold quality
esophagusUBERON:000104375.34gold quality
bloodUBERON:000017874.89gold quality
stromal cell of endometriumCL:000225574.75gold quality
right adrenal glandUBERON:000123374.57gold quality
ventricular zoneUBERON:000305374.49gold quality
fundus of stomachUBERON:000116074.37gold quality
right adrenal gland cortexUBERON:003582774.30gold quality
pancreasUBERON:000126474.23gold quality
gastrocnemiusUBERON:000138874.16gold quality
ganglionic eminenceUBERON:000402374.12gold quality
right lobe of thyroid glandUBERON:000111974.08gold quality
left lobe of thyroid glandUBERON:000112073.86gold quality
placentaUBERON:000198773.72gold quality
olfactory segment of nasal mucosaUBERON:000538673.72gold quality
muscle of legUBERON:000138373.62gold quality
body of pancreasUBERON:000115073.58gold quality
left adrenal glandUBERON:000123473.56gold quality
descending thoracic aortaUBERON:000234573.56gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no0.90

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1

Literature-anchored findings (GeneRIF, showing 16)

  • Results demonstrate the importance of posttranslational stabilization of p21 protein by WISp39 in regulating cellular p21 activity. (PMID:15664193)
  • FKBPL can be classed as a new member of the FKBP protein family with a role in steroid receptor complexes and signaling. (PMID:18669603)
  • Findings suggest that FKBPL may have prognostic value based on its impact on tumor proliferative capacity and sensitivity to endocrine therapies, which improve outcome. (PMID:20103631)
  • Alterations in the gene for FKBPL in azoospermic patients. (PMID:20210997)
  • Genome-wide association study of age-related macular degeneration identifies TNXB, FKBPL and NOTCH4 as candidate susceptibility genes. (PMID:22694956)
  • FKBPL and and its peptide derivative, AD-01 regulate expression of CD44. (PMID:23457460)
  • high levels of FKBPL and RBCK1 correlated with increased patient survival, whereas high RBCK1 predicted for a poor response to tamoxifen. (PMID:23912458)
  • FKBPL is an important regulator of developmental and pathological angiogenesis. (PMID:25767277)
  • WISp39 preferentially interacts with phosphorylated Coronin 1B, allowing it to complex with Slingshot phosphatase to dephosphorylate and activate Cofilin. (PMID:25800056)
  • The data suggests a role for FKBPL as a prognostic factor for BCSS, with the potential to be routinely evaluated within the clinic. (PMID:25906750)
  • This study identified two low-frequency nonsynonymous variants at FKBPL (rs200847762, OR = 0.34, 95% CI = 0.20-0.57, P = 4.31 x 10-5) and ARPC1B (rs1045012, OR = 0.56, 95% CI = 0.43-0.74, P = 4.30 x 10-5) associated with breast cancer risk. (PMID:27479355)
  • Role of A Novel Angiogenesis FKBPL-CD44 Pathway in Preeclampsia Risk Stratification and Mesenchymal Stem Cell Treatment. (PMID:32617576)
  • FKBPL and SIRT-1 Are Downregulated by Diabetes in Pregnancy Impacting on Angiogenesis and Endothelial Function. (PMID:34149611)
  • A novel mutation in FK506 binding protein-like (FKBPL) causes male infertility. (PMID:34212559)
  • Loss of Expression of Antiangiogenic Protein FKBPL in Endometrioid Endometrial Carcinoma: Implications for Clinical Practice. (PMID:36295491)
  • FK506-Binding Protein like (FKBPL) Has an Important Role in Heart Failure with Preserved Ejection Fraction Pathogenesis with Potential Diagnostic Utility. (PMID:36830764)

Cross-species orthologs

7 orthologs

OrganismSymbolGene ID
danio_reriofkbplENSDARG00000095322
mus_musculusFkbplENSMUSG00000033739
rattus_norvegicusFkbplENSRNOG00000000432
caenorhabditis_elegansfkb-2WBGENE00001427
caenorhabditis_elegansWBGENE00001429
caenorhabditis_elegansfkb-5WBGENE00001430
caenorhabditis_elegansfkb-8WBGENE00001433

Paralogs (18): FKBP4 (ENSG00000004478), FKBP6 (ENSG00000077800), FKBP7 (ENSG00000079150), FKBP1A (ENSG00000088832), FKBP5 (ENSG00000096060), FKBP3 (ENSG00000100442), FKBP8 (ENSG00000105701), FKBP14 (ENSG00000106080), FKBP15 (ENSG00000119321), FKBP1B (ENSG00000119782), FKBP9 (ENSG00000122642), TTC9 (ENSG00000133985), FKBP11 (ENSG00000134285), FKBP10 (ENSG00000141756), TTC9C (ENSG00000162222), FKBP2 (ENSG00000173486), TTC9B (ENSG00000174521), FKBP1C (ENSG00000198225)

Protein

Protein identifiers

FK506-binding protein-likeQ9UIM3 (reviewed: Q9UIM3)

Alternative names: WAF-1/CIP1 stabilizing protein 39

All UniProt accessions (2): A0A024RCQ6, Q9UIM3

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in response to X-ray. Regulates p21 protein stability by binding to Hsp90 and p21.

Subunit / interactions. Forms a ternary complex with CDKN1A/p21 and HSP90AB1/Hsp90.

Tissue specificity. Ubiquitously expressed with higher levels in testis.

RefSeq proteins (1): NP_071393* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR011990TPR-like_helical_dom_sfHomologous_superfamily
IPR019734TPR_rptRepeat
IPR050754FKBP4/5/8-likeFamily

Pfam: PF00515, PF13432

UniProt features (10 total): repeat 3, mutagenesis site 2, chain 1, region of interest 1, modified residue 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9UIM3-F177.000.53

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): 3

Mutagenesis-validated functional residues (2):

PositionPhenotype
287abolishes hsp90ab1 binding; when associated with a-291.
291abolishes hsp90ab1 binding; when associated with a-287.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-8852276The role of GTSE1 in G2/M progression after G2 checkpoint

MSigDB gene sets: 135 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE, MARTINEZ_RB1_TARGETS_UP, DOANE_RESPONSE_TO_ANDROGEN_DN, GOBP_BLOOD_VESSEL_MORPHOGENESIS, GOBP_RESPONSE_TO_RADIATION, CYTAGCAAY_UNKNOWN, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_MORPHOGENESIS_OF_A_BRANCHING_STRUCTURE, FISCHER_DREAM_TARGETS, GOBP_BRANCHING_MORPHOGENESIS_OF_AN_EPITHELIAL_TUBE, GOBP_TISSUE_MORPHOGENESIS, GOBP_CIRCULATORY_SYSTEM_DEVELOPMENT

GO Biological Process (3): response to radiation (GO:0009314), regulation of blood vessel branching (GO:1905553), regulation of angiogenesis (GO:0045765)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
G2/M Transition1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
response to abiotic stimulus1
branching involved in blood vessel morphogenesis1
regulation of angiogenesis1
regulation of morphogenesis of a branching structure1
regulation of morphogenesis of an epithelium1
angiogenesis1
regulation of anatomical structure morphogenesis1
regulation of vasculature development1
binding1
cytoplasm1

Protein interactions and networks

STRING

1748 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
FKBPLHSP90AA1P07900930
FKBPLHSP90AB1P08238929
FKBPLESR1P03372621
FKBPLEGFL8Q99944545
FKBPLDCTN2Q13561541
FKBPLMSH5O43196507
FKBPLCORO1BQ9BR76490
FKBPLST13P50502469
FKBPLFKBP15Q5T1M5456
FKBPLPPIDQ08752435
FKBPLMMRN2Q9H8L6434
FKBPLTRIM39Q9HCM9433
FKBPLGPSM3Q9Y4H4422
FKBPLFKBP3Q00688417
FKBPLUSP19O94966410
FKBPLATF6BQ99941410

IntAct

72 interactions, top by confidence:

ABTypeScore
CSNK1A1FAM83Gpsi-mi:“MI:0914”(association)0.900
ANKRD49FKBPLpsi-mi:“MI:0915”(physical association)0.860
CSNK1EPER2psi-mi:“MI:0914”(association)0.850
CSNK1DPER2psi-mi:“MI:0914”(association)0.810
ANKRD49CSNK1Epsi-mi:“MI:0914”(association)0.640
FKBPLCALCOCO2psi-mi:“MI:0915”(physical association)0.560
CALCOCO2FKBPLpsi-mi:“MI:0915”(physical association)0.560
CSNK1EZSWIM8psi-mi:“MI:0914”(association)0.530
FKBPLBRAFpsi-mi:“MI:0914”(association)0.530
FKBPLMATR3psi-mi:“MI:0915”(physical association)0.400
FKBPLIRS4psi-mi:“MI:0915”(physical association)0.400
FKBPLCFLARpsi-mi:“MI:0915”(physical association)0.400
FKBPLPSMD3psi-mi:“MI:0915”(physical association)0.400
FKBPLFBXO24psi-mi:“MI:0915”(physical association)0.400
FKBPLBAG2psi-mi:“MI:0915”(physical association)0.400
FKBPLMOSpsi-mi:“MI:0915”(physical association)0.400
FKBPLRAF1psi-mi:“MI:0915”(physical association)0.400
GNAZFKBPLpsi-mi:“MI:0915”(physical association)0.400
GNA15FKBPLpsi-mi:“MI:0915”(physical association)0.400
FKBPLHSPA2psi-mi:“MI:0915”(physical association)0.400
MLF1FKBPLpsi-mi:“MI:0915”(physical association)0.400
FKBPLNLRP12psi-mi:“MI:0915”(physical association)0.400
NR1H3FKBPLpsi-mi:“MI:0915”(physical association)0.400
SKP2FKBPLpsi-mi:“MI:0915”(physical association)0.400
KEAP1FKBPLpsi-mi:“MI:0915”(physical association)0.400
FKBPLSIM2psi-mi:“MI:0915”(physical association)0.400
FKBPLRCN2psi-mi:“MI:0915”(physical association)0.400
EFTUD2FKBPLpsi-mi:“MI:0915”(physical association)0.400

BioGRID (65): FKBPL (Two-hybrid), FKBPL (Affinity Capture-MS), FKBPL (Affinity Capture-MS), FKBPL (Affinity Capture-MS), NADSYN1 (Affinity Capture-MS), RBCK1 (Affinity Capture-MS), BRAF (Affinity Capture-MS), RNF31 (Affinity Capture-MS), CSNK1E (Affinity Capture-MS), PLS1 (Affinity Capture-MS), EDRF1 (Affinity Capture-MS), FKBPL (Affinity Capture-MS), CTU1 (Affinity Capture-MS), FKBPL (Synthetic Lethality), UNC119 (Two-hybrid)

ESM2 similar proteins: A0JN53, A6NE52, A7E3N7, A8MYJ7, D3ZVB0, D4A615, E1BD59, G3MZC5, O15287, O43299, O75064, O94812, P58660, P60330, Q0P5G1, Q14674, Q1JPD6, Q2VPB7, Q3HNM7, Q3TAP4, Q3U829, Q58EX7, Q5BK61, Q6DT37, Q6NZL6, Q6ZNJ1, Q6ZQA0, Q76MJ5, Q7Z614, Q80TE0, Q80TT2, Q80UW5, Q80VA5, Q8BGI5, Q8BUI3, Q8BYG0, Q8C0Q3, Q8C159, Q8C3R1, Q8CIE4

Diamond homologs: A4K2V0, F4IRM4, F4JTI1, F4K487, K7TQE3, O35450, O48802, Q07617, Q3KRD5, Q6MG81, Q9CYG7, Q9UIM3, O00170, O08915, O97628, Q554J3, Q5FWY5, Q7YRC1, Q924K1, Q95MN7, Q95MN8, Q95MN9, Q95MP0, Q95MP1, Q9JLG9, Q9NZN9, Q9QVC8, A4IFF3, F1RBN2, H9IWW7, P15705, Q02790, Q28IV3, Q32PZ3, Q5RAP0, Q5U2X2, Q68FQ7, Q6NU95, Q75Q39, Q80ZX8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 67 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 termPartnersFoldFDR
regulation of circadian rhythm625.1×7e-05
circadian regulation of gene expression518.9×2e-03
positive regulation of proteasomal ubiquitin-dependent protein catabolic process517.0×2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance32
Likely benign6
Benign2

Top pathogenic / likely-pathogenic (0)

SpliceAI

106 predictions. Top by Δscore:

VariantEffectΔscore
6:32129852:CAC:Cacceptor_gain0.9900
6:32129853:ACCTG:Aacceptor_loss0.9900
6:32129855:C:CCacceptor_gain0.9900
6:32129851:GCAC:Gacceptor_gain0.9800
6:32129852:CACC:Cacceptor_gain0.9800
6:32129853:AC:Aacceptor_gain0.9700
6:32129854:CC:Cacceptor_gain0.9700
6:32130039:C:Adonor_gain0.9700
6:32129850:AGCAC:Aacceptor_gain0.9600
6:32130090:AGTAC:Adonor_loss0.9600
6:32130091:GTAC:Gdonor_loss0.9600
6:32130092:TACC:Tdonor_loss0.9600
6:32130093:A:Cdonor_loss0.9600
6:32130094:C:Tdonor_loss0.9600
6:32129856:T:Gacceptor_loss0.9400
6:32130095:C:Gdonor_loss0.9300
6:32130115:G:Cdonor_gain0.9100
6:32129855:C:Tacceptor_gain0.9000
6:32129970:T:Adonor_gain0.8600
6:32130035:AATTC:Adonor_gain0.8400
6:32130154:T:Adonor_gain0.8400
6:32130030:T:TAdonor_gain0.8300
6:32130097:G:Adonor_gain0.8200
6:32130158:T:TAdonor_gain0.8200
6:32130146:A:ACdonor_gain0.7700
6:32130038:T:TAdonor_gain0.7600
6:32129868:C:Tacceptor_gain0.7500
6:32130110:G:Adonor_gain0.7500
6:32129868:C:CTacceptor_gain0.7100
6:32129824:A:Tacceptor_gain0.6900

AlphaMissense

2230 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:32129428:G:TP118H0.992
6:32129463:C:AK106N0.989
6:32129463:C:GK106N0.989
6:32128855:A:GL309P0.987
6:32128737:A:CF348L0.986
6:32128737:A:TF348L0.986
6:32128739:A:GF348L0.986
6:32129205:G:CF192L0.986
6:32129205:G:TF192L0.986
6:32129207:A:GF192L0.986
6:32128816:G:TA322D0.983
6:32128998:A:CC261W0.982
6:32128909:C:GR291P0.981
6:32128913:A:CY290D0.981
6:32129095:G:TA229D0.981
6:32129008:A:GL258P0.980
6:32129294:A:GC163R0.980
6:32128999:C:TC261Y0.979
6:32128956:A:CC275W0.978
6:32128897:G:TA295D0.975
6:32129005:G:TA259D0.975
6:32129131:C:TG217D0.975
6:32129409:G:CC124W0.975
6:32128898:C:GA295P0.974
6:32128920:C:AK287N0.974
6:32128920:C:GK287N0.974
6:32129429:G:AP118S0.973
6:32128903:C:TG293E0.972
6:32128957:C:TC275Y0.972
6:32128958:A:GC275R0.972

dbSNP variants (sampled 300 via entrez): RS1000439018 (6:32131347 C>G), RS1000814463 (6:32129672 G>A,C), RS1001180453 (6:32131495 A>G), RS1001729851 (6:32131089 T>C), RS1001790787 (6:32131533 G>T), RS1004554070 (6:32131010 G>A,C), RS1005498688 (6:32131106 G>A), RS1006195348 (6:32128657 GCCCCC>G,GC,GCCCC,GCCCCCC), RS1006599742 (6:32130227 G>A), RS1007599659 (6:32128476 G>A,C), RS1008037338 (6:32131640 G>A,T), RS1008993377 (6:32129919 C>T), RS1009941406 (6:32129806 G>A), RS1011564375 (6:32131960 T>G), RS1012030948 (6:32131560 A>T)

Disease associations

OMIM: gene MIM:617076 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

22 associations (top):

StudyTraitp-value
GCST001942_21Prostate cancer5.000000e-09
GCST003450_2Clozapine-induced agranulocytosis/granulocytopenia in treatment-resistant schizophrenia3.000000e-09
GCST004131_25Inflammatory bowel disease2.000000e-31
GCST004133_79Ulcerative colitis5.000000e-65
GCST004521_114Autism spectrum disorder or schizophrenia3.000000e-17
GCST004521_117Autism spectrum disorder or schizophrenia3.000000e-15
GCST004521_118Autism spectrum disorder or schizophrenia3.000000e-15
GCST004521_126Autism spectrum disorder or schizophrenia2.000000e-10
GCST004521_154Autism spectrum disorder or schizophrenia3.000000e-08
GCST004521_17Autism spectrum disorder or schizophrenia2.000000e-12
GCST004521_170Autism spectrum disorder or schizophrenia4.000000e-14
GCST004521_173Autism spectrum disorder or schizophrenia4.000000e-14
GCST004521_209Autism spectrum disorder or schizophrenia5.000000e-16
GCST004521_211Autism spectrum disorder or schizophrenia5.000000e-15
GCST004521_213Autism spectrum disorder or schizophrenia5.000000e-13
GCST004521_226Autism spectrum disorder or schizophrenia4.000000e-12
GCST004521_296Autism spectrum disorder or schizophrenia6.000000e-18
GCST004521_45Autism spectrum disorder or schizophrenia2.000000e-16
GCST004521_81Autism spectrum disorder or schizophrenia1.000000e-14
GCST005542_1Sarcoidosis (non-Lofgren’s syndrome without extrapulmonary manifestations)7.000000e-06
GCST005580_265Intraocular pressure3.000000e-10
GCST005830_112Hand grip strength4.000000e-11

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0004695intraocular pressure measurement
EFO:0006941grip strength measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Peptidyl-prolyl cis/trans isomerases

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
aristolochic acid Iincreases expression1
dicrotophosdecreases expression1
triphenyl phosphateaffects expression1
pirinixic acidincreases expression, affects binding, increases activity1
bisphenol Aincreases expression1
sodium arsenitedecreases expression1
manganese chlorideincreases abundance, increases expression1
ferrous chloridedecreases expression1
di-n-butylphosphoric acidaffects expression1
2-palmitoylglycerolincreases expression1
abrineincreases expression1
jinfukangincreases expression1
Resveratrolaffects cotreatment, decreases expression1
Fulvestrantincreases response to substance1
Leflunomidedecreases expression1
Arsenicaffects methylation1
Benzo(a)pyreneaffects methylation1
Cisplatinincreases expression1
Coumestrolincreases expression1
Cyclophosphamideincreases expression1
Estradiolincreases phosphorylation, decreases reaction1
Fluorouracilincreases expression1
Manganeseincreases abundance, increases expression1
Methyl Methanesulfonateincreases expression1
Plant Extractsaffects cotreatment, decreases expression1
Tamoxifendecreases reaction, increases phosphorylation, increases response to substance1
Urethaneincreases expression1
Epirubicinincreases expression1
Cadmium Chloridedecreases expression1
Copper Sulfatedecreases expression1

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): sarcoidosis