REEP5
gene geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:30077 |
| Approved symbol | REEP5 |
| Name | receptor accessory protein 5 |
| Location | 5q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DP1, TB2, D5S346, Yip2e, POB16 |
| Ensembl gene | ENSG00000129625 |
| Ensembl biotype | protein_coding |
| OMIM | 125265 |
| Entrez | 7905 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00000917819 | 112921163 | 112921256 |
| ENSE00001349886 | 112876385 | 112878835 |
| ENSE00002049327 | 112922073 | 112922227 |
| ENSE00003488169 | 112887015 | 112887183 |
| ENSE00003626661 | 112902380 | 112902518 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 62966 | 110.4502 | 1825 |
| 62967 | 3.7227 | 1651 |
| 62965 | 1.0237 | 598 |
Top tissues by expression
302 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 99.74 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 99.72 | gold quality |
| endothelial cell | CL:0000115 | 99.69 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 99.68 | gold quality |
| pons | UBERON:0000988 | 99.45 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 99.25 | gold quality |
| primary visual cortex | UBERON:0002436 | 99.25 | gold quality |
| occipital lobe | UBERON:0002021 | 99.24 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 99.24 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 99.21 | gold quality |
| parietal lobe | UBERON:0001872 | 99.18 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 99.17 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 99.16 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 99.15 | gold quality |
| renal glomerulus | UBERON:0000074 | 99.14 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 99.13 | gold quality |
| postcentral gyrus | UBERON:0002581 | 99.13 | gold quality |
| entorhinal cortex | UBERON:0002728 | 99.05 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 99.04 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 99.02 | gold quality |
| renal medulla | UBERON:0000362 | 98.98 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 98.95 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 98.93 | gold quality |
| medulla oblongata | UBERON:0001896 | 98.90 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 98.89 | gold quality |
| retina | UBERON:0000966 | 98.86 | gold quality |
| ventral tegmental area | UBERON:0002691 | 98.83 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 98.80 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.79 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 98.76 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-4 | yes | 41.73 |
| E-CURD-46 | yes | 13.35 |
| E-CURD-88 | no | 3.76 |
| E-ANND-3 | no | 0.00 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-146A-5P | 99.96 | 68.93 | 988 |
| HSA-MIR-146B-5P | 99.96 | 69.13 | 977 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-7153-5P | 99.94 | 68.89 | 1006 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | reep5 | ENSDARG00000100742 |
| mus_musculus | Reep5 | ENSMUSG00000005873 |
| rattus_norvegicus | Reep5 | ENSRNOG00000020167 |
| drosophila_melanogaster | ReepB | FBGN0033906 |
| drosophila_melanogaster | CG4960 | FBGN0039371 |
| caenorhabditis_elegans | WBGENE00011401 | |
| caenorhabditis_elegans | WBGENE00012180 | |
| caenorhabditis_elegans | WBGENE00018930 | |
| caenorhabditis_elegans | yop-1 | WBGENE00022127 |
Paralogs (5): REEP1 (ENSG00000068615), REEP6 (ENSG00000115255), REEP2 (ENSG00000132563), REEP3 (ENSG00000165476), REEP4 (ENSG00000168476)
Protein
Protein identifiers
Receptor expression-enhancing protein 5 — Q00765 (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 ID | Names | Canonical? |
|---|---|---|
| Q00765-1 | 1 | yes |
| Q00765-2 | 2 |
RefSeq proteins (1): NP_005660* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004345 | TB2_DP1_HVA22 | Family |
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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q00765-F1 | 78.88 | 0.13 |
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:
| Category | Terms |
|---|---|
| endoplasmic reticulum subcompartment | 2 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| endoplasmic reticulum organization | 1 |
| membrane organization | 1 |
| intracellular transport | 1 |
| regulation of transport | 1 |
| regulation of cellular localization | 1 |
| binding | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| endoplasmic reticulum membrane | 1 |
| sarcoplasmic reticulum | 1 |
| bounding membrane of organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| cellular anatomical structure | 1 |
| endoplasmic reticulum | 1 |
| sarcoplasm | 1 |
Protein interactions and networks
STRING
1100 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| REEP5 | PFAS | O15067 | 918 |
| REEP5 | RTN4 | Q9NQC3 | 901 |
| REEP5 | RTN1 | Q16799 | 885 |
| REEP5 | RTN2 | O75298 | 824 |
| REEP5 | ATL2 | Q8NHH9 | 819 |
| REEP5 | ATL3 | Q6DD88 | 819 |
| REEP5 | ATL1 | Q8WXF7 | 817 |
| REEP5 | ZNF740 | Q8NDX6 | 774 |
| REEP5 | RTN3 | O95197 | 749 |
| REEP5 | MLH1 | P40692 | 728 |
| REEP5 | SRP19 | P09132 | 719 |
| REEP5 | MSH2 | P43246 | 717 |
| REEP5 | MSH6 | P52701 | 713 |
| REEP5 | APC | P25054 | 712 |
| REEP5 | PMS2 | P54278 | 696 |
IntAct
147 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RABAC1 | REEP5 | psi-mi:“MI:0915”(physical association) | 0.740 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| PMPCB | psi-mi:“MI:0914”(association) | 0.640 | |
| FPR2 | ARL6IP5 | psi-mi:“MI:0914”(association) | 0.640 |
| OSBPL8 | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.640 |
| LETMD1 | REEP5 | psi-mi:“MI:0915”(physical association) | 0.580 |
| REEP5 | PBX3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| REEP5 | SNX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| REEP5 | ABHD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| REEP5 | PITPNC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARFIP2 | REEP5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZFYVE27 | REEP5 | psi-mi:“MI:0914”(association) | 0.540 |
| ZFYVE27 | REEP5 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| ZFYVE27 | REEP5 | psi-mi:“MI:0915”(physical association) | 0.540 |
| C3AR1 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| TSPAN11 | IGLL5 | psi-mi:“MI:0914”(association) | 0.530 |
| REEP5 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC5A | TSPAN6 | psi-mi:“MI:0914”(association) | 0.530 |
| GPC3 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| EMC6 | EMC8 | psi-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.
| A | Effect | B | Mechanism |
|---|---|---|---|
| REEP5 | “up-regulates activity” | CXCR1 | binding |
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 term | Partners | Fold | FDR |
|---|---|---|---|
| intra-Golgi vesicle-mediated transport | 5 | 18.4× | 3e-03 |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 6 | 14.1× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
31 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 21 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1803764 | NC_000005.10:g.112837231_112890913del | Pathogenic |
SpliceAI
1421 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:112887010:CTTA:C | donor_loss | 1.0000 |
| 5:112887011:TTACC:T | donor_loss | 1.0000 |
| 5:112887012:TACCT:T | donor_loss | 1.0000 |
| 5:112887014:CCTT:C | donor_gain | 1.0000 |
| 5:112887179:CCACA:C | acceptor_gain | 1.0000 |
| 5:112887180:CACA:C | acceptor_gain | 1.0000 |
| 5:112887180:CACAC:C | acceptor_gain | 1.0000 |
| 5:112887182:CA:C | acceptor_gain | 1.0000 |
| 5:112887184:C:CC | acceptor_gain | 1.0000 |
| 5:112902375:CATA:C | donor_loss | 1.0000 |
| 5:112902376:ATACC:A | donor_loss | 1.0000 |
| 5:112902377:TACCT:T | donor_loss | 1.0000 |
| 5:112902378:ACC:A | donor_loss | 1.0000 |
| 5:112902379:C:CG | donor_loss | 1.0000 |
| 5:112902514:TAATT:T | acceptor_gain | 1.0000 |
| 5:112902516:ATTC:A | acceptor_loss | 1.0000 |
| 5:112902517:TT:T | acceptor_gain | 1.0000 |
| 5:112902518:TC:T | acceptor_loss | 1.0000 |
| 5:112902519:C:CC | acceptor_gain | 1.0000 |
| 5:112902519:C:T | acceptor_loss | 1.0000 |
| 5:112902520:T:A | acceptor_loss | 1.0000 |
| 5:112902528:A:T | acceptor_gain | 1.0000 |
| 5:112902529:G:C | acceptor_gain | 1.0000 |
| 5:112902529:G:GC | acceptor_gain | 1.0000 |
| 5:112921157:ACTT:A | donor_loss | 1.0000 |
| 5:112921158:CTT:C | donor_loss | 1.0000 |
| 5:112921159:TTA:T | donor_loss | 1.0000 |
| 5:112921160:TAC:T | donor_loss | 1.0000 |
| 5:112921161:A:AC | donor_gain | 1.0000 |
| 5:112921161:ACGAG:A | donor_loss | 1.0000 |
AlphaMissense
1249 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:112902380:C:A | K117N | 0.999 |
| 5:112902380:C:G | K117N | 0.999 |
| 5:112902471:A:G | L87P | 0.999 |
| 5:112921172:G:T | A68D | 0.999 |
| 5:112902450:C:T | G94D | 0.998 |
| 5:112902463:A:G | W90R | 0.998 |
| 5:112902463:A:T | W90R | 0.998 |
| 5:112902511:C:G | A74P | 0.998 |
| 5:112902451:C:G | G94R | 0.997 |
| 5:112902475:A:G | W86R | 0.997 |
| 5:112902475:A:T | W86R | 0.997 |
| 5:112921179:A:C | Y66D | 0.997 |
| 5:112921187:C:T | G63E | 0.997 |
| 5:112887163:G:C | C124W | 0.996 |
| 5:112887165:A:G | C124R | 0.996 |
| 5:112887168:A:G | W123R | 0.996 |
| 5:112887168:A:T | W123R | 0.996 |
| 5:112887173:A:G | L121P | 0.996 |
| 5:112902461:C:A | W90C | 0.996 |
| 5:112902461:C:G | W90C | 0.996 |
| 5:112902471:A:T | L87Q | 0.996 |
| 5:112921164:A:G | S71P | 0.996 |
| 5:112921170:A:C | Y69D | 0.996 |
| 5:112887140:C:T | G132E | 0.995 |
| 5:112887183:A:G | C118R | 0.995 |
| 5:112902466:A:G | Y89H | 0.995 |
| 5:112921173:C:G | A68P | 0.995 |
| 5:112921188:C:G | G63R | 0.995 |
| 5:112921188:C:T | G63R | 0.995 |
| 5:112921190:A:T | I62K | 0.995 |
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):
| Study | Trait | p-value |
|---|---|---|
| GCST000246_17 | Attention deficit hyperactivity disorder | 8.000000e-06 |
| GCST006268_207 | Reaction time | 4.000000e-08 |
| GCST006268_510 | Reaction time | 3.000000e-08 |
| GCST011494_23 | Daytime nap | 2.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008393 | reaction time measurement |
| EFO:0007828 | daytime 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.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs153549 | Efficacy | 3 | citalopram;fluoxetine;paroxetine;sertraline | Major Depressive Disorder |
| rs153560 | Efficacy | 3 | citalopram;fluoxetine;paroxetine;sertraline | Major Depressive Disorder |
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs153549 | REEP5 | 3 | 3.00 | 1 | citalopram;fluoxetine;paroxetine;sertraline |
| rs153560 | REEP5 | 3 | 3.00 | 1 | citalopram;fluoxetine;paroxetine;sertraline |
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression | 6 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| bisphenol A | affects cotreatment, increases expression | 2 |
| Air Pollutants | increases abundance, decreases expression, affects expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Cyclosporine | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| tetrahydropalmatine | decreases expression | 1 |
| methylparaben | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| 2-bromopalmitate | decreases reaction, increases abundance, increases palmitoylation | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| nefazodone | affects cotreatment, decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Atazanavir Sulfate | affects cotreatment, decreases expression | 1 |
| Acetaminophen | affects cotreatment, decreases expression | 1 |
| Cadmium | decreases reaction, increases abundance, increases palmitoylation | 1 |
| Chenodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Cisplatin | decreases expression, decreases reaction | 1 |
| Coumestrol | affects cotreatment, decreases expression | 1 |
| Deoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diazinon | increases methylation | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4232643 | Binding | Binding 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 analysis | Covalent 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):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D1IL | H9 AAVS1-TRE3G-NGN2 CCPG1-/- Keima-REEP5 | Embryonic stem cell | Female |
| CVCL_D1IN | H9 AAVS1-TRE3G-NGN2 RETREG1-/- Keima-REEP5 | Embryonic stem cell | Female |
| CVCL_D1IQ | H9 AAVS1-TRE3G-NGN2 RETREG3-/- Keima-REEP5 | Embryonic stem cell | Female |
| CVCL_D1IS | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- Keima-REEP5 | Embryonic stem cell | Female |
| CVCL_D1IU | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- Keima-REEP5 | Embryonic stem cell | Female |
| CVCL_D1IW | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- Keima-REEP5 | Embryonic stem cell | Female |
| CVCL_D1IY | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- CCPG1-/- Keima-REEP5 | Embryonic stem cell | Female |
| CVCL_D1J0 | H9 AAVS1-TRE3G-NGN2 TEX264-/- Keima-REEP5 | Embryonic stem cell | Female |
| CVCL_D1J2 | H9 AAVS1-TRE3G-NGN2 RETREG2-/- Keima-REEP5 | Embryonic stem cell | Female |
| CVCL_D1QD | Abcam K-562 REEP5 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
12 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00140894 | PHASE4 | TERMINATED | A Study of Rofecoxib in Familial Adenomatous Polyposis (FAP) (0966-205)(TERMINATED) |
| NCT00585312 | PHASE3 | TERMINATED | Trial In Pediatric Patients With Familial Adenomatous Polyposis (FAP) |
| NCT00319007 | PHASE2 | UNKNOWN | Influence of Sulindac and Probiotics on the Development of Pouch Adenomas in Patients With Familial Adenomatous Polyposis |
| NCT01187901 | PHASE2 | COMPLETED | A Clinical Trial of COX and EGFR Inhibition in Familial Polyposis Patients |
| NCT03095703 | PHASE2 | COMPLETED | Sirolimus and Familial Adenomatous Polyposis (FAP) |
| NCT02113202 | PHASE1 | COMPLETED | Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CW |
| NCT03649971 | PHASE1 | COMPLETED | A Study of Guselkumab in Participants With Familial Adenomatous Polyposis |
| NCT05014360 | PHASE1 | COMPLETED | A Study of JNJ-64251330 in Participants With Familial Adenomatous Polyposis |
| NCT01604564 | Not specified | COMPLETED | Registry With Information About Colitis Ulcerosa and Familial Adenomatous Polyposis Patients |
| NCT03027401 | Not specified | WITHDRAWN | Clinical Sequencing of Cancer and Tissue Repository: OncoGenomics |
| NCT04948398 | Not specified | NO_LONGER_AVAILABLE | Post-Trial Access for Guselkumab in Participants With Familial Adenomatous Polyposis |
| NCT06435533 | Not specified | RECRUITING | Cold Atmospheric Plasma for the Endoscopic Treatment of Duodenal Polyps in Patients With Familial Adenomatous Polyposis |
Related Atlas pages
- 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