KDELR3
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Summary
KDELR3 (KDEL endoplasmic reticulum protein retention receptor 3, HGNC:6306) is a protein-coding gene on chromosome 22q13.1, encoding ER lumen protein-retaining receptor 3 (O43731). Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum.
This gene encodes a member of the KDEL endoplasmic reticulum protein retention receptor family. Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. KDELR3 was the third member of the family to be identified. Alternate splicing results in multiple transcript variants.
Source: NCBI Gene 11015 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 42 total
- MANE Select transcript:
NM_006855
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6306 |
| Approved symbol | KDELR3 |
| Name | KDEL endoplasmic reticulum protein retention receptor 3 |
| Location | 22q13.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000100196 |
| Ensembl biotype | protein_coding |
| OMIM | 619900 |
| Entrez | 11015 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000216014, ENST00000409006, ENST00000471268, ENST00000862991, ENST00000943543, ENST00000943544
RefSeq mRNA: 2 — MANE Select: NM_006855
NM_006855, NM_016657
CCDS: CCDS13972, CCDS46705
Canonical transcript exons
ENST00000216014 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001122832 | 38482496 | 38483447 |
| ENSE00001838269 | 38468096 | 38468324 |
| ENSE00003626900 | 38481212 | 38481464 |
| ENSE00003633444 | 38479593 | 38479751 |
| ENSE00003633752 | 38474523 | 38474623 |
Expression profiles
Bgee: expression breadth ubiquitous, 249 present calls, max score 98.98.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.8657 / max 358.8421, expressed in 1467 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 192258 | 29.4276 | 1464 |
| 192257 | 0.4381 | 288 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibia | UBERON:0000979 | 98.98 | gold quality |
| parotid gland | UBERON:0001831 | 97.70 | gold quality |
| periodontal ligament | UBERON:0008266 | 97.32 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.89 | gold quality |
| pancreatic ductal cell | CL:0002079 | 94.44 | gold quality |
| jejunal mucosa | UBERON:0000399 | 93.72 | gold quality |
| skin of hip | UBERON:0001554 | 92.85 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 92.60 | gold quality |
| parietal pleura | UBERON:0002400 | 92.50 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 90.77 | gold quality |
| pleura | UBERON:0000977 | 90.68 | gold quality |
| cartilage tissue | UBERON:0002418 | 90.23 | gold quality |
| rectum | UBERON:0001052 | 89.79 | gold quality |
| gall bladder | UBERON:0002110 | 89.64 | gold quality |
| colonic mucosa | UBERON:0000317 | 89.63 | gold quality |
| decidua | UBERON:0002450 | 89.49 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.26 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 88.62 | gold quality |
| ileal mucosa | UBERON:0000331 | 88.61 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 87.68 | gold quality |
| duodenum | UBERON:0002114 | 87.62 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 87.62 | gold quality |
| visceral pleura | UBERON:0002401 | 87.61 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 87.36 | gold quality |
| renal glomerulus | UBERON:0000074 | 87.30 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 86.90 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 86.53 | gold quality |
| ascending aorta | UBERON:0001496 | 86.49 | gold quality |
| corpus epididymis | UBERON:0004359 | 86.43 | gold quality |
| thoracic aorta | UBERON:0001515 | 86.37 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 27.30 |
| E-CURD-112 | yes | 16.80 |
| E-ANND-3 | yes | 8.99 |
| E-CURD-10 | no | 800.96 |
| E-MTAB-7052 | no | 641.63 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
66 targeting KDELR3, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
Literature-anchored findings (GeneRIF, showing 1)
- Cell-type-specific differences in KDEL receptor clustering in mammalian cells. (PMID:32645101)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kdelr3 | ENSDARG00000040912 |
| danio_rerio | KDELR3 | ENSDARG00000104519 |
| mus_musculus | Kdelr3 | ENSMUSG00000010830 |
| rattus_norvegicus | Kdelr3 | ENSRNOG00000013577 |
| drosophila_melanogaster | KdelR | FBGN0267330 |
| caenorhabditis_elegans | WBGENE00001331 | |
| caenorhabditis_elegans | WBGENE00016195 |
Paralogs (2): KDELR1 (ENSG00000105438), KDELR2 (ENSG00000136240)
Protein
Protein identifiers
ER lumen protein-retaining receptor 3 — O43731 (reviewed: O43731)
Alternative names: KDEL endoplasmic reticulum protein retention receptor 3
All UniProt accessions (1): O43731
UniProt curated annotations — full annotation on UniProt →
Function. Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum.
Subcellular location. Endoplasmic reticulum membrane. Golgi apparatus membrane. Cytoplasmic vesicle. COPI-coated vesicle membrane.
Domain organisation. Binds the C-terminal sequence motif K-D-E-L in a hydrophilic cavity between the transmembrane domains. This triggers a conformation change that exposes a Lys-rich patch on the cytosolic surface of the protein. This patch mediates recycling from the Golgi to the endoplasmic reticulum, probably via COPI vesicles.
Similarity. Belongs to the ERD2 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O43731-1 | 1 | yes |
| O43731-2 | 2 |
RefSeq proteins (2): NP_006846, NP_057839 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000133 | ER_ret_rcpt | Family |
Pfam: PF00810
UniProt features (25 total): topological domain 8, transmembrane region 7, region of interest 3, site 3, chain 1, splice variant 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43731-F1 | 91.42 | 0.78 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 5 (interaction with the k-d-e-l motif on target proteins); 117 (interaction with the k-d-e-l motif on target proteins); 193 (important for recycling of cargo proteins with the sequence motif k-d-e-l from the golgi to the endoplasmic reticulum)
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-381038 | XBP1(S) activates chaperone genes |
| R-HSA-6807878 | COPI-mediated anterograde transport |
| R-HSA-6811434 | COPI-dependent Golgi-to-ER retrograde traffic |
MSigDB gene sets: 209 (showing top):
REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, PATIL_LIVER_CANCER, GOBP_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, MAHAJAN_RESPONSE_TO_IL1A_DN, ONKEN_UVEAL_MELANOMA_UP, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_MAINTENANCE_OF_LOCATION, GOCC_COATED_VESICLE, GOBP_MAINTENANCE_OF_PROTEIN_LOCALIZATION_IN_ORGANELLE, E4F1_Q6
GO Biological Process (4): protein retention in ER lumen (GO:0006621), retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (GO:0006890), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192)
GO Molecular Function (3): KDEL sequence binding (GO:0005046), ER lumen protein retrieval receptor activity (GO:0046923), protein binding (GO:0005515)
GO Cellular Component (9): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), cis-Golgi network (GO:0005801), transport vesicle (GO:0030133), COPI-coated vesicle membrane (GO:0030663), Golgi apparatus (GO:0005794), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| IRE1alpha activates chaperones | 1 |
| ER to Golgi Anterograde Transport | 1 |
| Golgi-to-ER retrograde transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| endomembrane system | 3 |
| intracellular membrane-bounded organelle | 3 |
| transport | 2 |
| Golgi apparatus | 2 |
| maintenance of protein localization in endoplasmic reticulum | 1 |
| Golgi vesicle transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| cellular process | 1 |
| ER lumen protein retrieval receptor activity | 1 |
| signal sequence receptor activity | 1 |
| binding | 1 |
| bounding membrane of organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cytoplasmic vesicle | 1 |
| COPI-coated vesicle | 1 |
| Golgi-associated vesicle membrane | 1 |
| coated vesicle membrane | 1 |
| cellular anatomical structure | 1 |
| intracellular vesicle | 1 |
Protein interactions and networks
STRING
842 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KDELR3 | CUL7 | Q14999 | 446 |
| KDELR3 | TMEM229B | Q8NBD8 | 443 |
| KDELR3 | TMEM131L | A2VDJ0 | 436 |
| KDELR3 | MANF | P55145 | 395 |
| KDELR3 | YIF1A | O95070 | 394 |
| KDELR3 | SEC31A | O94979 | 377 |
| KDELR3 | PPFIA1 | Q13136 | 366 |
| KDELR3 | CREB3L1 | Q96BA8 | 362 |
| KDELR3 | SEC24D | O94855 | 360 |
| KDELR3 | ARF4 | P18085 | 357 |
| KDELR3 | AGAP5 | A6NIR3 | 355 |
| KDELR3 | IL2RG | P31785 | 353 |
| KDELR3 | PREB | Q9HCU5 | 351 |
| KDELR3 | COPB2 | P35606 | 340 |
| KDELR3 | CREB3L2 | Q70SY1 | 339 |
IntAct
31 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| TMEM63A | AP3D1 | psi-mi:“MI:0914”(association) | 0.530 |
| GPR17 | IPO8 | psi-mi:“MI:0914”(association) | 0.530 |
| ESYT2 | psi-mi:“MI:0914”(association) | 0.350 | |
| CRELD1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC22A4 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| KDELR3 | SLC4A2 | psi-mi:“MI:0914”(association) | 0.350 |
| FFAR1 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| REEP5 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| DUOXA2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.350 |
| GPR45 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| KDELR3 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| OPALIN | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC1A1 | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
| ATP2A3 | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
| SPPL2B | HAS3 | psi-mi:“MI:0914”(association) | 0.350 |
| VIPR1 | SLC33A1 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC2A1 | SLC33A1 | psi-mi:“MI:0914”(association) | 0.350 |
| LPAR2 | EI24 | psi-mi:“MI:0914”(association) | 0.350 |
| VIPR2 | EI24 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN2 | TPP1 | psi-mi:“MI:0914”(association) | 0.350 |
| FPR2 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.350 |
| GP5 | MGST3 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM72 | MGST3 | psi-mi:“MI:0914”(association) | 0.350 |
| P2RY8 | BTAF1 | psi-mi:“MI:0914”(association) | 0.350 |
| S1PR4 | NPC1 | psi-mi:“MI:0914”(association) | 0.350 |
| BSCL2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| CXCR4 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC10A4 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (68): KDELR3 (Affinity Capture-MS), KDELR3 (Affinity Capture-MS), KDELR3 (Affinity Capture-MS), KDELR3 (Affinity Capture-MS), KDELR3 (Affinity Capture-MS), KDELR3 (Affinity Capture-MS), TMEM56 (Affinity Capture-MS), ALG8 (Affinity Capture-MS), KDELR3 (Affinity Capture-MS), LPCAT3 (Affinity Capture-MS), SLC4A2 (Affinity Capture-MS), KDELR3 (Affinity Capture-MS), KDELR3 (Affinity Capture-MS), KDELR3 (Affinity Capture-MS), KDELR3 (Affinity Capture-MS)
ESM2 similar proteins: A0A097ZPD8, A0A0E3D8M2, A0A0E3D8Q2, A0A140JWT2, A0A1B7YCX1, A0A2I6PJ07, A0A3G9H8P0, A9JPE3, E3UBL6, J7FIJ6, K2RU64, M1VJS5, O42580, O43731, O44017, O76767, O94270, P18413, P18414, P24390, P33946, P33947, P33948, P35402, P48583, P9WEX1, P9WEX7, P9WEY0, Q09473, Q2KJ37, Q4WLD2, Q569A6, Q5U305, Q5XHA2, Q5ZKX9, Q611C8, Q66JF2, Q68ES4, Q6NRS2, Q6P257
Diamond homologs: O42580, O43731, O44017, O76767, O94270, P18413, P18414, P24390, P33946, P33947, P33948, P35402, P48583, Q09473, Q2KJ37, Q569A6, Q5U305, Q5XHA2, Q5ZKX9, Q611C8, Q66JF2, Q68ES4, Q6P257, Q6PAB8, Q6PEH1, Q6PFS5, Q76NM1, Q7ZXS5, Q86JE5, Q8R1L4, Q8VWI1, Q99JH8, Q9CQM2, Q9ZTN2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 49 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 |
|---|---|---|---|
| G protein-coupled receptor signaling pathway | 9 | 7.6× | 7e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
900 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:38468296:G:GT | donor_gain | 1.0000 |
| 22:38468296:G:T | donor_gain | 1.0000 |
| 22:38468305:G:GT | donor_gain | 1.0000 |
| 22:38468323:GG:G | donor_gain | 1.0000 |
| 22:38468324:GG:G | donor_gain | 1.0000 |
| 22:38474514:T:TA | acceptor_gain | 1.0000 |
| 22:38474517:CCACA:C | acceptor_loss | 1.0000 |
| 22:38474518:CACAG:C | acceptor_loss | 1.0000 |
| 22:38474521:A:AG | acceptor_gain | 1.0000 |
| 22:38474521:AGGC:A | acceptor_loss | 1.0000 |
| 22:38474522:G:GC | acceptor_loss | 1.0000 |
| 22:38474522:G:GG | acceptor_gain | 1.0000 |
| 22:38474615:G:GG | donor_gain | 1.0000 |
| 22:38474621:AAGG:A | donor_loss | 1.0000 |
| 22:38474622:AGG:A | donor_loss | 1.0000 |
| 22:38474623:GGTGA:G | donor_loss | 1.0000 |
| 22:38481204:T:TA | acceptor_gain | 1.0000 |
| 22:38481324:T:TA | acceptor_gain | 1.0000 |
| 22:38481325:G:A | acceptor_gain | 1.0000 |
| 22:38482494:A:AG | acceptor_gain | 1.0000 |
| 22:38482495:G:GG | acceptor_gain | 1.0000 |
| 22:38468323:GGGT:G | donor_loss | 0.9900 |
| 22:38468344:G:T | donor_gain | 0.9900 |
| 22:38474515:G:A | acceptor_gain | 0.9900 |
| 22:38474522:GGC:G | acceptor_gain | 0.9900 |
| 22:38479589:TTA:T | acceptor_loss | 0.9900 |
| 22:38479590:TAG:T | acceptor_loss | 0.9900 |
| 22:38479591:AGGT:A | acceptor_gain | 0.9900 |
| 22:38479592:GGTG:G | acceptor_gain | 0.9900 |
| 22:38479747:TGGAG:T | donor_loss | 0.9900 |
AlphaMissense
1401 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:38474571:G:T | R47M | 0.993 |
| 22:38474537:A:C | S36R | 0.991 |
| 22:38474539:C:A | S36R | 0.991 |
| 22:38474539:C:G | S36R | 0.991 |
| 22:38474561:T:C | F44L | 0.990 |
| 22:38474563:C:A | F44L | 0.990 |
| 22:38474563:C:G | F44L | 0.990 |
| 22:38481258:C:A | P133H | 0.990 |
| 22:38468255:G:C | G8R | 0.987 |
| 22:38468256:G:A | G8D | 0.987 |
| 22:38468264:A:C | S11R | 0.987 |
| 22:38468266:C:A | S11R | 0.987 |
| 22:38468266:C:G | S11R | 0.987 |
| 22:38481237:T:C | L126P | 0.987 |
| 22:38481240:A:T | E127V | 0.987 |
| 22:38474571:G:C | R47T | 0.985 |
| 22:38481248:G:C | A130P | 0.985 |
| 22:38481258:C:G | P133R | 0.985 |
| 22:38481228:C:T | S123F | 0.984 |
| 22:38481249:C:A | A130D | 0.984 |
| 22:38481440:T:C | F194L | 0.983 |
| 22:38481442:C:A | F194L | 0.983 |
| 22:38481442:C:G | F194L | 0.983 |
| 22:38481336:G:C | R159P | 0.982 |
| 22:38481257:C:T | P133S | 0.980 |
| 22:38481356:T:A | W166R | 0.980 |
| 22:38481356:T:C | W166R | 0.980 |
| 22:38468267:C:G | H12D | 0.979 |
| 22:38481241:A:C | E127D | 0.979 |
| 22:38481241:A:T | E127D | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000362297 (22:38482655 G>A), RS1000411664 (22:38483710 C>T), RS1000646102 (22:38473100 TAAAAAA>T,TA,TAA,TAAAAA), RS1000708027 (22:38472448 G>C), RS1000912400 (22:38472479 A>T), RS1000947925 (22:38469180 A>G), RS1000965588 (22:38472243 C>T), RS1001161070 (22:38479075 T>C), RS1001350243 (22:38467450 A>G), RS1001364321 (22:38477082 T>A), RS1001572632 (22:38471520 C>T), RS1001637643 (22:38467149 C>T), RS1001833126 (22:38472617 G>C), RS1001984096 (22:38479534 G>C), RS1002062063 (22:38477667 G>T)
Disease associations
OMIM: gene MIM:619900 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007209_16 | Gallstone disease | 1.000000e-10 |
| GCST007561_72 | Sleep duration | 4.000000e-08 |
| GCST007576_168 | Chronotype | 2.000000e-08 |
| GCST010244_327 | Triglyceride levels | 2.000000e-14 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008328 | chronotype measurement |
| EFO:0004530 | triglyceride measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects cotreatment, increases expression, decreases expression | 5 |
| Tretinoin | decreases expression, increases expression | 3 |
| sodium arsenite | affects methylation, increases expression | 2 |
| Resveratrol | decreases expression, affects cotreatment, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Particulate Matter | increases expression, decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | decreases expression | 1 |
| lead acetate | increases expression | 1 |
| salinomycin | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| avobenzone | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| NSC 689534 | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Orlistat | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): gallstones