REEP5

gene
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Also known as DP1TB2D5S346Yip2ePOB16

Summary

REEP5 (receptor accessory protein 5, HGNC:30077) is a protein-coding gene on chromosome 5q22.2, encoding Receptor expression-enhancing protein 5 (Q00765). Plays an essential role in heart function and development by regulating the organization and function of the sarcoplasmic reticulum in cardiomyocytes.

Predicted to be involved in endoplasmic reticulum membrane organization and regulation of intracellular transport. Located in endoplasmic reticulum tubular network.

Source: NCBI Gene 7905 — RefSeq curated summary.

At a glance

  • GWAS associations: 4
  • Clinical variants (ClinVar): 31 total — 1 pathogenic
  • Druggable target: yes
  • MANE Select transcript: NM_005669

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:30077
Approved symbolREEP5
Namereceptor accessory protein 5
Location5q22.2
Locus typegene with protein product
StatusApproved
AliasesDP1, TB2, D5S346, Yip2e, POB16
Ensembl geneENSG00000129625
Ensembl biotypeprotein_coding
OMIM125265
Entrez7905

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000261482, ENST00000379638, ENST00000474542, ENST00000497856, ENST00000504247, ENST00000511865, ENST00000513339, ENST00000868806, ENST00000938092, ENST00000938093

RefSeq mRNA: 1 — MANE Select: NM_005669 NM_005669

CCDS: CCDS4109

Canonical transcript exons

ENST00000379638 — 5 exons

ExonStartEnd
ENSE00000917819112921163112921256
ENSE00001349886112876385112878835
ENSE00002049327112922073112922227
ENSE00003488169112887015112887183
ENSE00003626661112902380112902518

Expression profiles

Bgee: expression breadth ubiquitous, 301 present calls, max score 99.74.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 115.1965 / max 1047.8138, expressed in 1825 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
62966110.45021825
629673.72271651
629651.0237598

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
middle temporal gyrusUBERON:000277199.74gold quality
lateral nuclear group of thalamusUBERON:000273699.72gold quality
endothelial cellCL:000011599.69gold quality
Brodmann (1909) area 23UBERON:001355499.68gold quality
ponsUBERON:000098899.45gold quality
dorsal root ganglionUBERON:000004499.25gold quality
primary visual cortexUBERON:000243699.25gold quality
occipital lobeUBERON:000202199.24gold quality
orbitofrontal cortexUBERON:000416799.24gold quality
superior vestibular nucleusUBERON:000722799.21gold quality
parietal lobeUBERON:000187299.18gold quality
superior frontal gyrusUBERON:000266199.17gold quality
Brodmann (1909) area 46UBERON:000648399.16gold quality
substantia nigra pars compactaUBERON:000196599.15gold quality
renal glomerulusUBERON:000007499.14gold quality
lateral globus pallidusUBERON:000247699.13gold quality
postcentral gyrusUBERON:000258199.13gold quality
entorhinal cortexUBERON:000272899.05gold quality
metanephric glomerulusUBERON:000473699.04gold quality
trigeminal ganglionUBERON:000167599.02gold quality
renal medullaUBERON:000036298.98gold quality
dorsal plus ventral thalamusUBERON:000189798.95gold quality
substantia nigra pars reticulataUBERON:000196698.93gold quality
medulla oblongataUBERON:000189698.90gold quality
pigmented layer of retinaUBERON:000178298.89gold quality
retinaUBERON:000096698.86gold quality
ventral tegmental areaUBERON:000269198.83gold quality
Brodmann (1909) area 9UBERON:001354098.80gold quality
kidney epitheliumUBERON:000481998.79gold quality
dorsolateral prefrontal cortexUBERON:000983498.76gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-HCAD-4yes41.73
E-CURD-46yes13.35
E-CURD-88no3.76
E-ANND-3no0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

119 targeting REEP5, 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-6867-5P100.0082.213464
HSA-MIR-450A-1-3P100.0069.331837
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-3163100.0077.238605
HSA-MIR-656-3P100.0072.152788
HSA-MIR-340-5P100.0072.504437
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-4476100.0068.182030
HSA-MIR-6876-5P100.0067.682126
HSA-MIR-428299.9975.366408
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-548N99.9871.944170
HSA-MIR-477599.9875.006394
HSA-MIR-4789-5P99.9870.762721
HSA-MIR-590-3P99.9674.346478
HSA-MIR-1250-3P99.9670.044038
HSA-MIR-146A-5P99.9668.93988
HSA-MIR-146B-5P99.9669.13977
HSA-MIR-493-5P99.9672.472382
HSA-MIR-23A-3P99.9574.243163
HSA-MIR-23B-3P99.9574.243163
HSA-MIR-23C99.9573.923192
HSA-MIR-55999.9572.283609
HSA-MIR-548AB99.9571.313488
HSA-MIR-7153-5P99.9468.891006
HSA-MIR-548A-5P99.9471.273482
HSA-MIR-548AD-5P99.9471.233502

Literature-anchored findings (GeneRIF, showing 4)

  • To determine the pathogenesis and treatment response of major depressive disorder. REEP5 gene polymorphisms may influence antidepressant treatment response in MDD. (PMID:22795047)
  • Depletion of receptor accessory proteins REEP5 and REEP6 causes a decrease in CXC Chemokine Receptor 1 (CXCR1) signaling. (PMID:27966653)
  • The sarco-endoplasmic reticulum (SR/ER) plays an important role in the development and progression of many heart diseases. Receptor accessory protein 5 (REEP5), a cardiac enriched, sarco-endoplasmic reticulum (SR/ER) membrane protein,is centrally involved in regulating SR/ER organization and cellular stress responses in cardiac myocytes. (PMID:32075961)
  • The REEP5/TRAM1 complex binds SARS-CoV-2 NSP3 and promotes virus replication. (PMID:37768083)

Cross-species orthologs

9 orthologs

OrganismSymbolGene ID
danio_rerioreep5ENSDARG00000100742
mus_musculusReep5ENSMUSG00000005873
rattus_norvegicusReep5ENSRNOG00000020167
drosophila_melanogasterReepBFBGN0033906
drosophila_melanogasterCG4960FBGN0039371
caenorhabditis_elegansWBGENE00011401
caenorhabditis_elegansWBGENE00012180
caenorhabditis_elegansWBGENE00018930
caenorhabditis_elegansyop-1WBGENE00022127

Paralogs (5): REEP1 (ENSG00000068615), REEP6 (ENSG00000115255), REEP2 (ENSG00000132563), REEP3 (ENSG00000165476), REEP4 (ENSG00000168476)

Protein

Protein identifiers

Receptor expression-enhancing protein 5Q00765 (reviewed: Q00765)

Alternative names: Polyposis locus protein 1, Protein TB2

All UniProt accessions (5): Q00765, B7Z332, B7Z510, E2QRG8, H0Y8J8

UniProt curated annotations — full annotation on UniProt →

Function. Plays an essential role in heart function and development by regulating the organization and function of the sarcoplasmic reticulum in cardiomyocytes.

Subunit / interactions. Monomer. Homodimer; maybe disulfide-linked. Homotrimer. Interacts with ATL1. Interacts with ATL2. Interacts with ATL3. Interacts with CKAP4. Interacts with RTN4 (isoforms A and B). Interacts with ZFYVE27.

Subcellular location. Endoplasmic reticulum membrane. Sarcoplasmic reticulum membrane.

Tissue specificity. Expressed in heart (at protein level). Expressed in circumvallate papillae and testis.

Domain organisation. The short lumenal loops between transmembrane domains 1 and 2 and between transmembrane domains 3 and 4 may impart a wedge-like configuration, thus deforming membranes.

Similarity. Belongs to the DP1 family.

Isoforms (2)

UniProt IDNamesCanonical?
Q00765-11yes
Q00765-22

RefSeq proteins (1): NP_005660* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR004345TB2_DP1_HVA22Family

Pfam: PF03134

UniProt features (14 total): topological domain 5, transmembrane region 4, sequence conflict 2, chain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q00765-F178.880.13

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 242 (showing top): FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, YANG_BREAST_CANCER_ESR1_BULK_UP, GOLDRATH_ANTIGEN_RESPONSE, BROWNE_HCMV_INFECTION_48HR_DN, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, TIEN_INTESTINE_PROBIOTICS_24HR_UP, GOBP_MEMBRANE_ORGANIZATION, GOBP_ENDOPLASMIC_RETICULUM_ORGANIZATION, RUAN_RESPONSE_TO_TNF_DN, JACKSON_DNMT1_TARGETS_UP

GO Biological Process (3): endoplasmic reticulum organization (GO:0007029), endoplasmic reticulum membrane organization (GO:0090158), regulation of intracellular transport (GO:0032386)

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

GO Cellular Component (6): endoplasmic reticulum (GO:0005783), sarcoplasmic reticulum membrane (GO:0033017), endoplasmic reticulum tubular network (GO:0071782), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), sarcoplasmic reticulum (GO:0016529)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
endoplasmic reticulum subcompartment2
organelle organization1
endomembrane system organization1
endoplasmic reticulum organization1
membrane organization1
intracellular transport1
regulation of transport1
regulation of cellular localization1
binding1
cytoplasm1
endomembrane system1
intracellular membrane-bounded organelle1
endoplasmic reticulum membrane1
sarcoplasmic reticulum1
bounding membrane of organelle1
organelle membrane1
nuclear outer membrane-endoplasmic reticulum membrane network1
cellular anatomical structure1
endoplasmic reticulum1
sarcoplasm1

Protein interactions and networks

STRING

1100 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
REEP5PFASO15067918
REEP5RTN4Q9NQC3901
REEP5RTN1Q16799885
REEP5RTN2O75298824
REEP5ATL2Q8NHH9819
REEP5ATL3Q6DD88819
REEP5ATL1Q8WXF7817
REEP5ZNF740Q8NDX6774
REEP5RTN3O95197749
REEP5MLH1P40692728
REEP5SRP19P09132719
REEP5MSH2P43246717
REEP5MSH6P52701713
REEP5APCP25054712
REEP5PMS2P54278696

IntAct

147 interactions, top by confidence:

ABTypeScore
RABAC1REEP5psi-mi:“MI:0915”(physical association)0.740
CFTRESYT2psi-mi:“MI:2364”(proximity)0.710
PMPCBpsi-mi:“MI:0914”(association)0.640
FPR2ARL6IP5psi-mi:“MI:0914”(association)0.640
OSBPL8CSNK2A2psi-mi:“MI:0914”(association)0.640
LETMD1REEP5psi-mi:“MI:0915”(physical association)0.580
REEP5PBX3psi-mi:“MI:0915”(physical association)0.560
REEP5SNX1psi-mi:“MI:0915”(physical association)0.560
REEP5ABHD4psi-mi:“MI:0915”(physical association)0.560
REEP5PITPNC1psi-mi:“MI:0915”(physical association)0.560
ARFIP2REEP5psi-mi:“MI:0915”(physical association)0.560
ZFYVE27REEP5psi-mi:“MI:0914”(association)0.540
ZFYVE27REEP5psi-mi:“MI:0403”(colocalization)0.540
ZFYVE27REEP5psi-mi:“MI:0915”(physical association)0.540
C3AR1TMEM120Bpsi-mi:“MI:0914”(association)0.530
TSPAN11IGLL5psi-mi:“MI:0914”(association)0.530
REEP5SCAMP1psi-mi:“MI:0914”(association)0.530
CLEC5ATSPAN6psi-mi:“MI:0914”(association)0.530
GPC3CLGNpsi-mi:“MI:0914”(association)0.530
EMC6EMC8psi-mi:“MI:0914”(association)0.530

BioGRID (517): REEP5 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), REEP5 (Proximity Label-MS), ACSL3 (Affinity Capture-MS), GALNT2 (Affinity Capture-MS)

ESM2 similar proteins: A0A8I3PI99, A0M8U1, A7Y521, B5DEN9, C5HGF3, O88544, O94973, P13666, P17427, P18484, P38024, Q00765, Q0VCK5, Q0X0A5, Q13098, Q1RLU8, Q28635, Q2PG42, Q3KNM2, Q3SZA0, Q3T0N3, Q3T126, Q3T178, Q3ZC24, Q4R5E6, Q5F418, Q5I0H4, Q5M7T4, Q5R648, Q5R9B0, Q5R9M4, Q5RE33, Q5ZJ41, Q5ZJD7, Q6DGW9, Q6GM44, Q6NRT5, Q7TQ48, Q8C407, Q8R1Z9

Diamond homologs: A0A509ADH4, B2RZ37, P0CN16, P0CN17, Q00765, Q07764, Q10010, Q12402, Q29RM3, Q2KI30, Q32LG5, Q3ZCI8, Q4KMI4, Q4P0H0, Q4QQW1, Q4WTW3, Q51VY4, Q5BB01, Q5BL63, Q5HZP8, Q5R598, Q5RE33, Q5XI60, Q60870, Q66IF1, Q682H0, Q6AZM3, Q6BWH8, Q6CE07, Q6CP93, Q6FMU3, Q6NLY8, Q6NUK4, Q6PBX9, Q75A56, Q7ZVX5, Q871R7, Q8BGH4, Q8K072, Q8LE10

SIGNOR signaling

1 interactions.

AEffectBMechanism
REEP5“up-regulates activity”CXCR1binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 161 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
intra-Golgi vesicle-mediated transport518.4×3e-03
retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum614.1×3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance21
Likely benign2
Benign1

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
1803764NC_000005.10:g.112837231_112890913delPathogenic

SpliceAI

1421 predictions. Top by Δscore:

VariantEffectΔscore
5:112887010:CTTA:Cdonor_loss1.0000
5:112887011:TTACC:Tdonor_loss1.0000
5:112887012:TACCT:Tdonor_loss1.0000
5:112887014:CCTT:Cdonor_gain1.0000
5:112887179:CCACA:Cacceptor_gain1.0000
5:112887180:CACA:Cacceptor_gain1.0000
5:112887180:CACAC:Cacceptor_gain1.0000
5:112887182:CA:Cacceptor_gain1.0000
5:112887184:C:CCacceptor_gain1.0000
5:112902375:CATA:Cdonor_loss1.0000
5:112902376:ATACC:Adonor_loss1.0000
5:112902377:TACCT:Tdonor_loss1.0000
5:112902378:ACC:Adonor_loss1.0000
5:112902379:C:CGdonor_loss1.0000
5:112902514:TAATT:Tacceptor_gain1.0000
5:112902516:ATTC:Aacceptor_loss1.0000
5:112902517:TT:Tacceptor_gain1.0000
5:112902518:TC:Tacceptor_loss1.0000
5:112902519:C:CCacceptor_gain1.0000
5:112902519:C:Tacceptor_loss1.0000
5:112902520:T:Aacceptor_loss1.0000
5:112902528:A:Tacceptor_gain1.0000
5:112902529:G:Cacceptor_gain1.0000
5:112902529:G:GCacceptor_gain1.0000
5:112921157:ACTT:Adonor_loss1.0000
5:112921158:CTT:Cdonor_loss1.0000
5:112921159:TTA:Tdonor_loss1.0000
5:112921160:TAC:Tdonor_loss1.0000
5:112921161:A:ACdonor_gain1.0000
5:112921161:ACGAG:Adonor_loss1.0000

AlphaMissense

1249 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
5:112902380:C:AK117N0.999
5:112902380:C:GK117N0.999
5:112902471:A:GL87P0.999
5:112921172:G:TA68D0.999
5:112902450:C:TG94D0.998
5:112902463:A:GW90R0.998
5:112902463:A:TW90R0.998
5:112902511:C:GA74P0.998
5:112902451:C:GG94R0.997
5:112902475:A:GW86R0.997
5:112902475:A:TW86R0.997
5:112921179:A:CY66D0.997
5:112921187:C:TG63E0.997
5:112887163:G:CC124W0.996
5:112887165:A:GC124R0.996
5:112887168:A:GW123R0.996
5:112887168:A:TW123R0.996
5:112887173:A:GL121P0.996
5:112902461:C:AW90C0.996
5:112902461:C:GW90C0.996
5:112902471:A:TL87Q0.996
5:112921164:A:GS71P0.996
5:112921170:A:CY69D0.996
5:112887140:C:TG132E0.995
5:112887183:A:GC118R0.995
5:112902466:A:GY89H0.995
5:112921173:C:GA68P0.995
5:112921188:C:GG63R0.995
5:112921188:C:TG63R0.995
5:112921190:A:TI62K0.995

dbSNP variants (sampled 300 via entrez): RS1000001302 (5:112907516 G>A), RS1000051314 (5:112895273 G>A), RS1000138368 (5:112910827 C>T), RS1000168520 (5:112917242 C>T), RS1000200103 (5:112917480 C>A,G), RS1000307309 (5:112877842 T>A), RS1000313734 (5:112922294 G>A,C,T), RS1000346703 (5:112888905 G>A,C), RS1000450012 (5:112906698 A>C), RS1000489926 (5:112922420 C>T), RS1000583895 (5:112877543 G>A), RS1000584898 (5:112906445 TACATAC>T), RS1000585214 (5:112881974 G>T), RS1000707290 (5:112894701 A>G), RS1000765578 (5:112911909 A>T)

Disease associations

OMIM: gene MIM:125265 | disease phenotypes: MIM:175100

GenCC curated gene-disease

Mondo (1): familial adenomatous polyposis 1 (MONDO:0021056)

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

StudyTraitp-value
GCST000246_17Attention deficit hyperactivity disorder8.000000e-06
GCST006268_207Reaction time4.000000e-08
GCST006268_510Reaction time3.000000e-08
GCST011494_23Daytime nap2.000000e-11

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0008393reaction time measurement
EFO:0007828daytime rest measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4295797 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

2 annotations.

VariantTypeLevelDrugsPhenotypes
rs153549Efficacy3citalopram;fluoxetine;paroxetine;sertralineMajor Depressive Disorder
rs153560Efficacy3citalopram;fluoxetine;paroxetine;sertralineMajor Depressive Disorder

PharmGKB variants

2 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs153549REEP533.001citalopram;fluoxetine;paroxetine;sertraline
rs153560REEP533.001citalopram;fluoxetine;paroxetine;sertraline

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, affects expression, decreases expression6
trichostatin Aaffects cotreatment, increases expression3
bisphenol Aaffects cotreatment, increases expression2
Air Pollutantsincreases abundance, decreases expression, affects expression2
Phenylmercuric Acetateaffects cotreatment, increases expression2
Cyclosporineaffects cotreatment, decreases expression2
aristolochic acid Idecreases expression1
dicrotophosdecreases expression1
triphenyl phosphateaffects expression1
tetrahydropalmatinedecreases expression1
methylparabendecreases expression1
tris(1,3-dichloro-2-propyl)phosphatedecreases expression1
2-bromopalmitatedecreases reaction, increases abundance, increases palmitoylation1
2,3-bis(3’-hydroxybenzyl)butyrolactoneaffects cotreatment, decreases expression1
nefazodoneaffects cotreatment, decreases expression1
CGP 52608affects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideincreases expression, affects cotreatment1
bisphenol Bincreases expression1
abrinedecreases expression1
dorsomorphinaffects cotreatment, increases expression1
bisphenol AFincreases expression1
Atazanavir Sulfateaffects cotreatment, decreases expression1
Acetaminophenaffects cotreatment, decreases expression1
Cadmiumdecreases reaction, increases abundance, increases palmitoylation1
Chenodeoxycholic Acidaffects cotreatment, decreases expression1
Cisplatindecreases expression, decreases reaction1
Coumestrolaffects cotreatment, decreases expression1
Deoxycholic Acidaffects cotreatment, decreases expression1
Dexamethasoneaffects cotreatment, increases expression1
Diazinonincreases methylation1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL4232643BindingBinding affinity to REEP5 cysteine residue in human 786-O cell soluble proteomic lysate at 5 uM incubated for 1 hr followed by cell lysis by IA-alkyne probe based isoTOP-ABPP analysisCovalent inhibitors of nicotinamide N-methyltransferase (NNMT) provide evidence for target engagement challenges in situ. — Bioorg Med Chem Lett

Cellosaurus cell lines

12 cell lines: 9 embryonic stem cell, 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_D1ILH9 AAVS1-TRE3G-NGN2 CCPG1-/- Keima-REEP5Embryonic stem cellFemale
CVCL_D1INH9 AAVS1-TRE3G-NGN2 RETREG1-/- Keima-REEP5Embryonic stem cellFemale
CVCL_D1IQH9 AAVS1-TRE3G-NGN2 RETREG3-/- Keima-REEP5Embryonic stem cellFemale
CVCL_D1ISH9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- Keima-REEP5Embryonic stem cellFemale
CVCL_D1IUH9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- Keima-REEP5Embryonic stem cellFemale
CVCL_D1IWH9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- Keima-REEP5Embryonic stem cellFemale
CVCL_D1IYH9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- CCPG1-/- Keima-REEP5Embryonic stem cellFemale
CVCL_D1J0H9 AAVS1-TRE3G-NGN2 TEX264-/- Keima-REEP5Embryonic stem cellFemale
CVCL_D1J2H9 AAVS1-TRE3G-NGN2 RETREG2-/- Keima-REEP5Embryonic stem cellFemale
CVCL_D1QDAbcam K-562 REEP5 KOCancer cell lineFemale

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00140894PHASE4TERMINATEDA Study of Rofecoxib in Familial Adenomatous Polyposis (FAP) (0966-205)(TERMINATED)
NCT00585312PHASE3TERMINATEDTrial In Pediatric Patients With Familial Adenomatous Polyposis (FAP)
NCT00319007PHASE2UNKNOWNInfluence of Sulindac and Probiotics on the Development of Pouch Adenomas in Patients With Familial Adenomatous Polyposis
NCT01187901PHASE2COMPLETEDA Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients
NCT03095703PHASE2COMPLETEDSirolimus and Familial Adenomatous Polyposis (FAP)
NCT02113202PHASE1COMPLETEDMolecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CW
NCT03649971PHASE1COMPLETEDA Study of Guselkumab in Participants With Familial Adenomatous Polyposis
NCT05014360PHASE1COMPLETEDA Study of JNJ-64251330 in Participants With Familial Adenomatous Polyposis
NCT01604564Not specifiedCOMPLETEDRegistry With Information About Colitis Ulcerosa and Familial Adenomatous Polyposis Patients
NCT03027401Not specifiedWITHDRAWNClinical Sequencing of Cancer and Tissue Repository: OncoGenomics
NCT04948398Not specifiedNO_LONGER_AVAILABLEPost-Trial Access for Guselkumab in Participants With Familial Adenomatous Polyposis
NCT06435533Not specifiedRECRUITINGCold Atmospheric Plasma for the Endoscopic Treatment of Duodenal Polyps in Patients With Familial Adenomatous Polyposis
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): familial adenomatous polyposis 1