PRR5

gene
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Also known as PP610FLJ20185kProtor-1.PROTOR1

Summary

PRR5 (proline rich 5, HGNC:31682) is a protein-coding gene on chromosome 22q13.31, encoding Proline-rich protein 5 (P85299). Associated subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cyt….

This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene.

Source: NCBI Gene 55615 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 80 total
  • MANE Select transcript: NM_181333

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:31682
Approved symbolPRR5
Nameproline rich 5
Location22q13.31
Locus typegene with protein product
StatusApproved
AliasesPP610, FLJ20185k, Protor-1., PROTOR1
Ensembl geneENSG00000186654
Ensembl biotypeprotein_coding
OMIM609406
Entrez55615

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 8 protein_coding, 4 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay, 2 retained_intron

ENST00000006251, ENST00000336985, ENST00000403581, ENST00000403696, ENST00000431834, ENST00000432186, ENST00000432916, ENST00000455389, ENST00000457960, ENST00000459857, ENST00000475850, ENST00000477331, ENST00000492289, ENST00000492475, ENST00000495017, ENST00000617066

RefSeq mRNA: 6 — MANE Select: NM_181333 NM_001017528, NM_001017529, NM_001017530, NM_001198721, NM_015366, NM_181333

CCDS: CCDS14058, CCDS14059, CCDS56232, CCDS74875

Canonical transcript exons

ENST00000336985 — 8 exons

ExonStartEnd
ENSE000015915014470220444702608
ENSE000034655564472657744726634
ENSE000035517064473677244737681
ENSE000035688254472524444725292
ENSE000036141594471459144714671
ENSE000036423814473173044731821
ENSE000036584914473225144732391
ENSE000036928654473502744735162

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 93.44.

FANTOM5 (CAGE): breadth broad, TPM avg 4.9542 / max 162.4310, expressed in 847 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter IDTPM avgSamples expressed
1926905.49941369
1926811.5677632
1926871.2263183
1926850.5736116
1926860.5070133
1926790.4583251
1926840.160436
1926800.146465
1926880.126967
1926830.111337

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
spleenUBERON:000210693.44gold quality
adenohypophysisUBERON:000219692.93gold quality
granulocyteCL:000009492.75gold quality
right lobe of liverUBERON:000111492.44gold quality
pituitary glandUBERON:000000791.55gold quality
mucosa of transverse colonUBERON:000499190.85gold quality
right uterine tubeUBERON:000130290.67gold quality
endocervixUBERON:000045889.43gold quality
bloodUBERON:000017888.35gold quality
ectocervixUBERON:001224988.06gold quality
metanephros cortexUBERON:001053387.98gold quality
small intestine Peyer’s patchUBERON:000345487.74gold quality
adipose tissue of abdominal regionUBERON:000780887.64gold quality
omental fat padUBERON:001041487.59gold quality
peritoneumUBERON:000235887.50gold quality
tibiaUBERON:000097987.19gold quality
adipose tissueUBERON:000101387.12gold quality
subcutaneous adipose tissueUBERON:000219086.90gold quality
connective tissueUBERON:000238486.55gold quality
anterior cingulate cortexUBERON:000983586.32gold quality
cingulate cortexUBERON:000302786.20gold quality
ileal mucosaUBERON:000033186.11gold quality
small intestineUBERON:000210886.11gold quality
putamenUBERON:000187485.58gold quality
vaginaUBERON:000099684.95gold quality
caudate nucleusUBERON:000187384.93gold quality
transverse colonUBERON:000115784.91gold quality
adult mammalian kidneyUBERON:000008284.72gold quality
nucleus accumbensUBERON:000188284.69gold quality
lower esophagus mucosaUBERON:003583484.47gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes6.29
E-GEOD-124858no11.50

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting PRR5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-548AJ-3P99.9673.385345
HSA-MIR-548X-3P99.9673.385345
HSA-MIR-548J-3P99.9472.614881
HSA-MIR-6721-5P99.9368.922981
HSA-MIR-548AE-3P99.9372.664867
HSA-MIR-548AH-3P99.9372.544872
HSA-MIR-548AM-3P99.9372.544872
HSA-MIR-548AQ-3P99.9372.664867
HSA-MIR-449299.8768.253611
HSA-MIR-76599.8468.242442
HSA-MIR-11181-3P99.7566.382205
HSA-MIR-545-5P99.6670.182308
HSA-MIR-3922-5P98.7766.531059
HSA-MIR-3135B98.6165.331470
HSA-MIR-313898.4167.53744
HSA-MIR-134-3P96.8366.221001
HSA-MIR-56396.2666.13450
HSA-MIR-380-5P95.6867.32512
HSA-MIR-6877-5P93.8461.4174
HSA-MIR-608989.7261.35324

Literature-anchored findings (GeneRIF, showing 4)

  • mRNA expression analyses revealed PRR5 overexpression in a majority of colorectal tumors but substantial downregulation of PRR5 expression in a subset of breast tumors and reduced expression in two breast cancer cell lines (PMID:15718101)
  • It was demonstrated that immunoprecipitation of Protor-1 or Protor-2 results in the co-immunoprecipitation of other mTORC2 subunits, but not Raptor, a specific component of mTORC1. (PMID:17461779)
  • The inhibition of Akt and S6K1 phosphorylation by PRR5 knock down correlates with reduction in the expression level of platelet-derived growth factor receptor beta (PDGFRbeta). (PMID:17599906)
  • Fusion protein PRR5-ARHGAP8 plays a role in bipolar disorder with binge eating behavior. (PMID:29391396)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_rerioprr5aENSDARG00000075977
danio_rerioprr5bENSDARG00000115971
mus_musculusPrr5ENSMUSG00000036106
rattus_norvegicusPrr5ENSRNOG00000076724

Paralogs (1): PRR5L (ENSG00000135362)

Protein

Protein identifiers

Proline-rich protein 5P85299 (reviewed: P85299)

Alternative names: Protein observed with Rictor-1

All UniProt accessions (7): A8K699, B1AHG3, B1AHG4, P85299, E9PH80, F8WEZ7, G3V0G2

UniProt curated annotations — full annotation on UniProt →

Function. Associated subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. PRR5 plays an important role in regulation of PDGFRB expression and in modulation of platelet-derived growth factor signaling. May act as a tumor suppressor in breast cancer.

Subunit / interactions. Associated component of the mechanistic target of rapamycin complex 2 (mTORC2). Binds directly to MTOR and RICTOR within the TORC2 complex.

Tissue specificity. Most abundant in kidney and liver. Also highly expressed in brain, spleen, testis and placenta. Overexpressed in several colorectal tumors.

Similarity. Belongs to the PROTOR family.

Isoforms (5)

UniProt IDNamesCanonical?
P85299-11, alphayes
P85299-22
P85299-33, beta
P85299-44, gamma
P85299-55

RefSeq proteins (6): NP_001017528, NP_001017529, NP_001017530, NP_001185650, NP_056181, NP_851850* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR013745Bit61/PRR5Family
IPR016159Cullin_repeat-like_dom_sfHomologous_superfamily

Pfam: PF08539

UniProt features (15 total): splice variant 5, region of interest 4, compositionally biased region 2, chain 1, sequence variant 1, sequence conflict 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P85299-F169.590.38

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): 252

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

IDPathway
R-HSA-1257604PIP3 activates AKT signaling
R-HSA-389357CD28 dependent PI3K/Akt signaling
R-HSA-5218920VEGFR2 mediated vascular permeability
R-HSA-5674400Constitutive Signaling by AKT1 E17K in Cancer
R-HSA-6804757Regulation of TP53 Degradation
R-HSA-9856530High laminar flow shear stress activates signaling by PIEZO1 and PECAM1:CDH5:KDR in endothelial cells
R-HSA-9920951Dengue virus modulates apoptosis

MSigDB gene sets: 170 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_GROWTH, REACTOME_CO_STIMULATION_BY_CD28, PID_MTOR_4PATHWAY, KOYAMA_SEMA3B_TARGETS_UP, GOBP_POSITIVE_REGULATION_OF_CELL_GROWTH, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, REACTOME_CD28_DEPENDENT_PI3K_AKT_SIGNALING, GOBP_POSITIVE_REGULATION_OF_GROWTH, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_POSITIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, GOBP_TOR_SIGNALING, BURTON_ADIPOGENESIS_2, BURTON_ADIPOGENESIS_PEAK_AT_8HR

GO Biological Process (7): cytoskeleton organization (GO:0007010), positive regulation of cell growth (GO:0030307), cellular response to nutrient levels (GO:0031669), TORC2 signaling (GO:0038203), negative regulation of apoptotic process (GO:0043066), phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0043491), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897)

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

GO Cellular Component (2): cytosol (GO:0005829), TORC2 complex (GO:0031932)

Reactome top-level categories

Rollup of top-7 pathways:

CategoryPathways
Intracellular signaling by second messengers1
Co-stimulation by CD281
VEGFA-VEGFR2 Pathway1
PI3K/AKT Signaling in Cancer1
Regulation of TP53 Expression and Degradation1
Response of endothelial cells to shear stress1
Dengue Virus-Host Interactions1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
organelle organization1
regulation of cell growth1
cell growth1
positive regulation of growth1
positive regulation of cellular process1
response to nutrient levels1
cellular response to stimulus1
TOR signaling1
apoptotic process1
regulation of apoptotic process1
negative regulation of programmed cell death1
intracellular signaling cassette1
phosphatidylinositol 3-kinase/protein kinase B signal transduction1
regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction1
positive regulation of intracellular signal transduction1
binding1
cytoplasm1
cellular anatomical structure1
TOR complex1

Protein interactions and networks

STRING

562 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PRR5MAPKAP1Q9BPZ7999
PRR5RICTORQ6R327999
PRR5DEPTORQ8TB45998
PRR5MLST8Q9BVC4998
PRR5MTORP42345997
PRR5TTI1O43156992
PRR5PRR5LQ6MZQ0917
PRR5ARHGAP8P85298914
PRR5RPTORQ8N122863
PRR5AKT1S1Q96B36863
PRR5SGK1O00141769
PRR5INPP5JQ15735716
PRR5BNIP2Q12982678
PRR5PRR7Q8TB68671
PRR5PRR9Q5T870665

IntAct

38 interactions, top by confidence:

ABTypeScore
RICTORMTORpsi-mi:“MI:0914”(association)0.970
MAPKAP1MTORpsi-mi:“MI:0914”(association)0.860
WDR5MEN1psi-mi:“MI:0914”(association)0.710
PRR5YWHAHpsi-mi:“MI:0915”(physical association)0.650
YWHAGBLTP3Bpsi-mi:“MI:2364”(proximity)0.640
PRR5DLG1psi-mi:“MI:0915”(physical association)0.610
DLG1PRR5psi-mi:“MI:0407”(direct interaction)0.610
YWHAHPLEKHG3psi-mi:“MI:0914”(association)0.610
YWHAERGS12psi-mi:“MI:0914”(association)0.610
YWHABBLTP3Bpsi-mi:“MI:2364”(proximity)0.610
YWHAHBLTP3Bpsi-mi:“MI:2364”(proximity)0.570
YWHAESRSF10psi-mi:“MI:0914”(association)0.560
YWHAQIGLC7psi-mi:“MI:0914”(association)0.530
YWHABPLEKHG3psi-mi:“MI:0914”(association)0.480
RICTORHSPA1Apsi-mi:“MI:0914”(association)0.460
RICTORWIZpsi-mi:“MI:0914”(association)0.350
PRR5MTORpsi-mi:“MI:0914”(association)0.350
MTORPRR5psi-mi:“MI:0914”(association)0.350
YWHABPLEKHG3psi-mi:“MI:0914”(association)0.350
YWHAGC1orf226psi-mi:“MI:0914”(association)0.350
YWHABFOXO6psi-mi:“MI:0914”(association)0.350
YWHAGFOXO6psi-mi:“MI:0914”(association)0.350
YWHAQFOXO6psi-mi:“MI:0914”(association)0.350
GIMAP1PRR5psi-mi:“MI:0914”(association)0.350
CIR1IGLL5psi-mi:“MI:0914”(association)0.350
PRR5HNRNPCL1psi-mi:“MI:0914”(association)0.350

BioGRID (56): PRR5 (Affinity Capture-RNA), PRR5 (Affinity Capture-MS), PRR5 (Affinity Capture-MS), PRR5 (Two-hybrid), PRR5 (Two-hybrid), PRR5 (Two-hybrid), PRR5 (Two-hybrid), GPSM3 (Two-hybrid), PRR5 (Affinity Capture-MS), PRR5 (Proximity Label-MS), PRR5 (Proximity Label-MS), PRR5 (Proximity Label-MS), PRR5 (Proximity Label-MS), YWHAH (Affinity Capture-MS), PRR5 (Affinity Capture-MS)

ESM2 similar proteins: A0A088MLT8, A2AQ25, B3KU38, B5DF41, E9PSK7, O15079, O35274, P0DPB3, P0DPB4, P12755, P49140, P85299, Q0D2I5, Q14DQ1, Q1LY51, Q3B7M3, Q3SYW5, Q4KMA0, Q4R3X1, Q50H33, Q5F3L9, Q5FVG6, Q5RD40, Q5XKK7, Q60698, Q6ZNC4, Q6ZUS6, Q6ZWB6, Q80U23, Q80U62, Q80XA6, Q812A5, Q86YI8, Q8BXL9, Q8K2W6, Q8ND83, Q8NFH8, Q8QFX1, Q8TEK3, Q924W7

Diamond homologs: A1L1K1, A2AVJ5, P85299, Q5E9R0, Q5FVG6, Q6MZQ0, Q812A5, Q8AVJ1

SIGNOR signaling

1 interactions.

AEffectBMechanism
PRR5“form complex”mTORC2binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 29 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.

Reactome pathways:

PathwayPartnersFoldFDR
Activation of BAD and translocation to mitochondria6240.4×4e-12
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex6212.1×5e-12
SARS-CoV-1 targets host intracellular signalling and regulatory pathways6212.1×5e-12
Activation of BH3-only proteins6156.8×3e-11
RHO GTPases activate PKNs6100.2×5e-10
Intrinsic Pathway for Apoptosis692.5×7e-10
SARS-CoV-1-host interactions655.5×1e-08
Apoptosis653.0×1e-08

GO biological processes:

GO termPartnersFoldFDR
intracellular protein localization627.3×2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance71
Likely benign5
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2422 predictions. Top by Δscore:

VariantEffectΔscore
22:44702609:G:GAdonor_loss1.0000
22:44702610:T:Gdonor_loss1.0000
22:44714582:T:TAacceptor_gain1.0000
22:44714586:CCCAG:Cacceptor_loss1.0000
22:44714587:CCAGC:Cacceptor_loss1.0000
22:44714588:CAGCA:Cacceptor_loss1.0000
22:44714589:A:AGacceptor_gain1.0000
22:44714589:AGCAT:Aacceptor_loss1.0000
22:44714590:G:Aacceptor_loss1.0000
22:44714590:G:GCacceptor_gain1.0000
22:44714590:G:GGacceptor_gain1.0000
22:44714590:GC:Gacceptor_gain1.0000
22:44714590:GCA:Gacceptor_gain1.0000
22:44714590:GCAT:Gacceptor_gain1.0000
22:44714590:GCATC:Gacceptor_gain1.0000
22:44714667:GTCCG:Gdonor_gain1.0000
22:44714668:TCCGG:Tdonor_loss1.0000
22:44714669:CCGG:Cdonor_loss1.0000
22:44714670:CGG:Cdonor_loss1.0000
22:44714672:G:Adonor_loss1.0000
22:44714672:G:GGdonor_gain1.0000
22:44714673:T:Adonor_loss1.0000
22:44714673:T:Gdonor_loss1.0000
22:44714674:GAGT:Gdonor_loss1.0000
22:44726575:A:AGacceptor_gain1.0000
22:44726576:G:GAacceptor_gain1.0000
22:44726631:GAGG:Gdonor_gain1.0000
22:44726633:GG:Gdonor_gain1.0000
22:44726634:GG:Gdonor_gain1.0000
22:44726635:GTGA:Gdonor_loss1.0000

AlphaMissense

2502 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
22:44731762:T:AW119R1.000
22:44731762:T:CW119R1.000
22:44702601:T:AW43R0.999
22:44702601:T:CW43R0.999
22:44714593:T:AI46N0.999
22:44714616:T:CF54L0.999
22:44714617:T:CF54S0.999
22:44714618:C:AF54L0.999
22:44714618:C:GF54L0.999
22:44725249:T:CL74P0.999
22:44725288:T:CL87P0.999
22:44726595:G:CG95R0.999
22:44726596:G:AG95D0.999
22:44731764:G:CW119C0.999
22:44731764:G:TW119C0.999
22:44731796:T:CL130P0.999
22:44732291:T:CF152S0.999
22:44702603:G:CW43C0.998
22:44702603:G:TW43C0.998
22:44714593:T:GI46S0.998
22:44714668:T:AV71D0.998
22:44714671:G:CR72P0.998
22:44726608:T:CL99P0.998
22:44731751:T:CL115P0.998
22:44732282:T:CL149P0.998
22:44732290:T:CF152L0.998
22:44732292:C:AF152L0.998
22:44732292:C:GF152L0.998
22:44732294:G:CR153P0.998
22:44732378:T:CL181P0.998

dbSNP variants (sampled 300 via entrez): RS1000069395 (22:44736733 G>T), RS1000073712 (22:44710389 C>G), RS1000119494 (22:44679896 G>A,T), RS1000120407 (22:44678036 GTGC>G), RS1000123701 (22:44730111 C>T), RS1000132849 (22:44669353 C>T), RS1000138845 (22:44709640 T>A), RS1000172126 (22:44679654 C>G,T), RS1000212445 (22:44723960 A>G), RS1000216762 (22:44712551 A>T), RS1000246495 (22:44674382 C>A,G,T), RS1000252404 (22:44674188 T>C,G), RS1000312760 (22:44717381 G>A), RS1000342210 (22:44717189 C>G,T), RS1000383720 (22:44684495 C>G,T)

Disease associations

OMIM: gene MIM:609406 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

StudyTraitp-value
GCST001503_4Electroencephalographic traits in alcoholism3.000000e-06
GCST002420_1Binge eating behaviour in bipolar disorder9.000000e-07
GCST005387_1Binge eating behaviour in bipolar disorder3.000000e-08

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004800frontal theta oscillation measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, increases methylation2
Valproic Acidincreases expression, increases methylation2
Aflatoxin B1affects methylation, increases methylation2
Cadmium Chloridedecreases expression2
FR900359decreases phosphorylation1
beta-lapachoneincreases expression1
sodium arsenitedecreases expression1
benzo(e)pyreneaffects methylation1
aflatoxin B2affects methylation1
coumarinincreases phosphorylation1
di-n-butylphosphoric acidaffects expression1
CGP 52608affects binding, increases reaction1
abrinedecreases expression1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidinedecreases expression, increases response to substance1
bisphenol Sdecreases methylation1
jinfukangaffects cotreatment, increases expression1
NSC 689534affects binding, decreases expression1
Caffeineaffects phosphorylation1
Cisplatinaffects cotreatment, increases expression1
Copperaffects binding, decreases expression1
Estradiolincreases expression1
Methapyrileneaffects methylation1
Phthalic Acidsincreases methylation1
Smokedecreases expression1
Dihydrotestosteroneincreases expression1
Tobacco Smoke Pollutionincreases expression1
Antirheumatic Agentsincreases expression1
Acrylamidedecreases expression1
Particulate Matterincreases 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): binge eating disorder