EIPR1
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Also known as EIPR-1
Summary
EIPR1 (EARP complex and GARP complex interacting protein 1, HGNC:12383) is a protein-coding gene on chromosome 2p25.3, encoding EARP and GARP complex-interacting protein 1 (Q53HC9). Acts as a component of endosomal retrieval machinery that is involved in protein transport from early endosomes to either recycling endosomes or the trans-Golgi network.
This gene has been reported in PMID 9403053 as one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. Alignment of this gene to genomic sequence data suggests that this gene resides on chromosome 2 rather than chromosome 11.
Source: NCBI Gene 7260 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 73 total — 1 pathogenic
- MANE Select transcript:
NM_003310
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12383 |
| Approved symbol | EIPR1 |
| Name | EARP complex and GARP complex interacting protein 1 |
| Location | 2p25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EIPR-1 |
| Ensembl gene | ENSG00000032389 |
| Ensembl biotype | protein_coding |
| OMIM | 608998 |
| Entrez | 7260 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 8 protein_coding, 3 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined, 3 retained_intron
ENST00000382125, ENST00000398659, ENST00000406835, ENST00000435721, ENST00000441271, ENST00000443925, ENST00000444776, ENST00000455162, ENST00000462515, ENST00000463662, ENST00000470625, ENST00000478754, ENST00000482570, ENST00000496433, ENST00000864323, ENST00000864324, ENST00000955638
RefSeq mRNA: 3 — MANE Select: NM_003310
NM_001330530, NM_001330531, NM_003310
CCDS: CCDS1651, CCDS82416
Canonical transcript exons
ENST00000382125 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001737497 | 3377648 | 3377818 |
| ENSE00003485237 | 3214149 | 3214248 |
| ENSE00003577527 | 3196881 | 3197017 |
| ENSE00003579689 | 3354550 | 3354633 |
| ENSE00003610735 | 3338017 | 3338149 |
| ENSE00003616665 | 3193999 | 3194166 |
| ENSE00003690705 | 3257299 | 3257455 |
| ENSE00003788368 | 3192414 | 3192581 |
| ENSE00003900920 | 3188970 | 3189508 |
Expression profiles
Bgee: expression breadth ubiquitous, 249 present calls, max score 92.28.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3503 / max 100.3328, expressed in 1798 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 26707 | 13.3503 | 1798 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| prefrontal cortex | UBERON:0000451 | 92.28 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.08 | gold quality |
| nucleus accumbens | UBERON:0001882 | 90.88 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 90.67 | gold quality |
| pituitary gland | UBERON:0000007 | 90.66 | gold quality |
| cingulate cortex | UBERON:0003027 | 90.59 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.57 | gold quality |
| putamen | UBERON:0001874 | 90.56 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 90.28 | gold quality |
| caudate nucleus | UBERON:0001873 | 90.25 | gold quality |
| oocyte | CL:0000023 | 90.13 | gold quality |
| frontal cortex | UBERON:0001870 | 89.90 | gold quality |
| neocortex | UBERON:0001950 | 89.83 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 89.83 | gold quality |
| cortical plate | UBERON:0005343 | 89.71 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 89.28 | gold quality |
| amygdala | UBERON:0001876 | 89.14 | gold quality |
| cerebellar vermis | UBERON:0004720 | 89.01 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 88.99 | gold quality |
| forebrain | UBERON:0001890 | 88.68 | gold quality |
| telencephalon | UBERON:0001893 | 88.65 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 88.58 | gold quality |
| cerebral cortex | UBERON:0000956 | 88.53 | gold quality |
| hypothalamus | UBERON:0001898 | 88.13 | gold quality |
| brain | UBERON:0000955 | 88.00 | gold quality |
| ganglionic eminence | UBERON:0004023 | 87.63 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 87.43 | gold quality |
| granulocyte | CL:0000094 | 87.14 | gold quality |
| cerebellar cortex | UBERON:0002129 | 87.01 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 87.00 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.53 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
9 targeting EIPR1, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-548V | 99.29 | 69.47 | 1157 |
| HSA-MIR-4727-5P | 99.23 | 67.55 | 1154 |
| HSA-MIR-558 | 97.50 | 67.16 | 977 |
| HSA-MIR-6802-3P | 97.29 | 65.42 | 613 |
| HSA-MIR-1306-5P | 97.11 | 64.04 | 755 |
| HSA-MIR-3649 | 96.85 | 64.10 | 340 |
Literature-anchored findings (GeneRIF, showing 3)
- TSSC1 inhibits breast cancer cell invasion. Subsequently, TSSC1 is confirmed as a target of Runx2 and is negatively regulated by Runx2. (PMID:23933319)
- Fluorescence recovery after photobleaching shows that TSSC1 is required for efficient recruitment of GARP to the TGN. These studies thus demonstrate that TSSC1 plays a critical role in endosomal retrieval pathways as a regulator of both GARP and EARP function. (PMID:27440922)
- Allele-specific DNA methylation maps in monozygotic twins discordant for psychiatric disorders reveal that disease-associated switching at the EIPR1 regulatory loci modulates neural function. (PMID:33963283)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | eipr1 | ENSDARG00000043417 |
| mus_musculus | Eipr1 | ENSMUSG00000036613 |
| rattus_norvegicus | Eipr1 | ENSRNOG00000009285 |
| drosophila_melanogaster | CG10646 | FBGN0036292 |
| caenorhabditis_elegans | eipr-1 | WBGENE00013599 |
Protein
Protein identifiers
EARP and GARP complex-interacting protein 1 — Q53HC9 (reviewed: Q53HC9)
Alternative names: Endosome-associated recycling protein-interacting protein, Golgi-associated retrograde protein-interacting protein, Tumor-suppressing STF cDNA 1 protein, Tumor-suppressing subchromosomal transferable fragment candidate gene 1 protein
All UniProt accessions (8): A8MUM1, C9J0U9, C9JVR6, D3YTH5, F8WB12, F8WDS8, F8WDX0, Q53HC9
UniProt curated annotations — full annotation on UniProt →
Function. Acts as a component of endosomal retrieval machinery that is involved in protein transport from early endosomes to either recycling endosomes or the trans-Golgi network. Mediates the recruitment of Golgi-associated retrograde protein (GARP) complex to the trans-Golgi network and controls early endosome-to-Golgi transport of internalized protein. Promotes the recycling of internalized transferrin receptor (TFRC) to the plasma membrane through interaction with endosome-associated recycling protein (EARP) complex. Controls proper insulin distribution and secretion, and retention of cargo in mature dense core vesicles. Required for the stability of the endosome-associated retrograde protein (EARP) complex subunits and for proper localization and association of EARP with membranes.
Subunit / interactions. Interacts with two multisubunit tethering complexes: EARP composed of VPS50, VPS51, VPS52 and VPS53 subunits and GARP complex composed of VPS51, VPS52, VPS53 and VPS54 subunits. Interacts with SNAP29.
Subcellular location. Golgi apparatus. trans-Golgi network.
Similarity. Belongs to the WD repeat EIPR1 family.
RefSeq proteins (3): NP_001317459, NP_001317460, NP_003301* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR040323 | EIPR1 | Family |
| IPR059104 | Beta-prop_EIPR1-like | Domain |
Pfam: PF00400, PF23609
UniProt features (14 total): repeat 7, modified residue 2, sequence conflict 2, chain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q53HC9-F1 | 89.26 | 0.79 |
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 (2): 1, 320
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 153 (showing top):
chr2p25, TGCGCANK_UNKNOWN, GOBP_INSULIN_SECRETION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, GOBP_REGULATION_OF_PROTEIN_SECRETION, GOCC_TRANS_GOLGI_NETWORK, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOBP_SECRETION, GOBP_SIGNAL_RELEASE
GO Biological Process (7): protein ubiquitination (GO:0016567), endocytic recycling (GO:0032456), regulation of insulin secretion (GO:0050796), positive regulation of retrograde transport, endosome to Golgi (GO:1905281), positive regulation of endocytic recycling (GO:2001137), regulation of transport (GO:0051049), regulation of cellular localization (GO:0060341)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): trans-Golgi network (GO:0005802), GARP complex (GO:0000938), Golgi apparatus (GO:0005794), EARP complex (GO:1990745)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| positive regulation of intracellular transport | 2 |
| regulation of localization | 2 |
| protein modification by small protein conjugation | 1 |
| endosomal transport | 1 |
| vesicle-mediated transport to the plasma membrane | 1 |
| insulin secretion | 1 |
| regulation of protein secretion | 1 |
| regulation of peptide hormone secretion | 1 |
| retrograde transport, endosome to Golgi | 1 |
| regulation of retrograde transport, endosome to Golgi | 1 |
| endocytic recycling | 1 |
| regulation of endocytic recycling | 1 |
| transport | 1 |
| regulation of cellular process | 1 |
| cellular localization | 1 |
| binding | 1 |
| Golgi apparatus subcompartment | 1 |
| Golgi apparatus | 1 |
| cytoplasmic vesicle | 1 |
| vesicle tethering complex | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
| recycling endosome | 1 |
Protein interactions and networks
STRING
650 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EIPR1 | CCDC186 | Q7Z3E2 | 717 |
| EIPR1 | VPS50 | Q96JG6 | 645 |
| EIPR1 | TRAPPC12 | Q8WVT3 | 612 |
| EIPR1 | VPS51 | Q9UID3 | 590 |
| EIPR1 | VPS54 | Q9P1Q0 | 588 |
| EIPR1 | RNF144A | P50876 | 582 |
| EIPR1 | VPS53 | Q5VIR6 | 559 |
| EIPR1 | DCDC2C | A8MYV0 | 513 |
| EIPR1 | VPS52 | Q8N1B4 | 501 |
| EIPR1 | RUNDC1 | Q96C34 | 496 |
| EIPR1 | DTWD2 | Q8NBA8 | 480 |
| EIPR1 | CPD | O75976 | 475 |
| EIPR1 | BRIX1 | Q8TDN6 | 475 |
| EIPR1 | DTNBP1 | Q96EV8 | 472 |
| EIPR1 | CLPB | Q9H078 | 470 |
IntAct
93 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ODAD1 | HGS | psi-mi:“MI:0914”(association) | 0.850 |
| EXOC1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.730 |
| VPS50 | EIPR1 | psi-mi:“MI:0914”(association) | 0.730 |
| CCT2 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.730 |
| CCT3 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| NOTO | EIPR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| EIPR1 | LDHC | psi-mi:“MI:0914”(association) | 0.530 |
| KXD1 | HIP1 | psi-mi:“MI:0914”(association) | 0.530 |
| DHH | HSPA5 | psi-mi:“MI:0914”(association) | 0.530 |
| CCT7 | PEX7 | psi-mi:“MI:0914”(association) | 0.530 |
| KXD1 | TRAK2 | psi-mi:“MI:0914”(association) | 0.530 |
| EIPR1 | TCP1 | psi-mi:“MI:0914”(association) | 0.530 |
| EXOC4 | EXOC5 | psi-mi:“MI:0914”(association) | 0.510 |
| MLF1 | EIPR1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MLF2 | EIPR1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HSP90AB1 | EIPR1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NUDC | EIPR1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EIPR1 | NUDCD3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EIPR1 | PSMD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EIPR1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| EIPR1 | FKBPL | psi-mi:“MI:0915”(physical association) | 0.400 |
| EIPR1 | STUB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EIPR1 | PFDN5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EIPR1 | AARSD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| EIPR1 | PPP5C | psi-mi:“MI:0915”(physical association) | 0.400 |
| Snap29 | PTTG1IP | psi-mi:“MI:0914”(association) | 0.350 |
| VPS50 | PHF20L1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (159): TSSC1 (Affinity Capture-MS), TSSC1 (Affinity Capture-MS), TSSC1 (Affinity Capture-MS), CCT7 (Affinity Capture-MS), VPS53 (Affinity Capture-MS), CCT3 (Affinity Capture-MS), CCT6B (Affinity Capture-MS), CCT6A (Affinity Capture-MS), YEATS2 (Affinity Capture-MS), TCP1 (Affinity Capture-MS), VPS51 (Affinity Capture-MS), VPS54 (Affinity Capture-MS), RPL23 (Affinity Capture-MS), LRIF1 (Affinity Capture-MS), VPS52 (Affinity Capture-MS)
ESM2 similar proteins: A4QNE6, B0BNA7, B5FZ19, O43172, O74184, Q13347, Q29RH4, Q29RZ9, Q38884, Q3KPT3, Q3MHE2, Q3UGF1, Q4R571, Q53HC9, Q561Y0, Q5E959, Q5E966, Q5M7F6, Q5M8I4, Q5MNZ6, Q5NVD0, Q5PPK9, Q5R7W0, Q5XIG8, Q5XJP1, Q5ZL16, Q5ZL33, Q640T2, Q66J51, Q68F45, Q6DUZ9, Q6H8D5, Q6H8D6, Q7ZUW6, Q8BGF3, Q8K0G5, Q8NEZ3, Q8VE80, Q91VM3, Q96J01
Diamond homologs: A1CF18, A1CUD6, A1DP19, A2QP30, A4R3M4, A7ECP3, A7EKM8, A8NEG8, A8XZJ9, B0XM00, B2AEZ5, B2B766, B2VWG7, B6GZD3, B6HP56, B6QC06, B6QC56, B8M0Q1, B8N9H4, B8PD53, B9WD30, C0NRC6, C0S902, C1GB49, C4JPW9, C4JZS6, C4Q0P6, C4YPI7, C5FWH1, C5GVJ9, C5JD40, C5MJE8, C5PFX0, C6HTE8, C7Z6H2, D1ZEB4, D1ZEM6, D4AZ50, D4DG66, D5GBI7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 103 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:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Prefoldin mediated transfer of substrate to CCT/TriC | 5 | 29.0× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein folding | 8 | 8.7× | 8e-04 |
| protein transport | 11 | 5.1× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
73 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 57 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4279236 | GRCh37/hg19 2p25.3(chr2:887655-3350776)x1 | Pathogenic |
SpliceAI
4671 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:3189504:TGCTC:T | acceptor_gain | 1.0000 |
| 2:3189506:CTC:C | acceptor_gain | 1.0000 |
| 2:3189508:CCT:C | acceptor_loss | 1.0000 |
| 2:3189509:C:CA | acceptor_loss | 1.0000 |
| 2:3189510:T:A | acceptor_loss | 1.0000 |
| 2:3192412:A:AC | donor_gain | 1.0000 |
| 2:3192413:C:CC | donor_gain | 1.0000 |
| 2:3192413:CTT:C | donor_gain | 1.0000 |
| 2:3192413:CTTCT:C | donor_gain | 1.0000 |
| 2:3192415:T:TA | donor_gain | 1.0000 |
| 2:3192435:T:TA | donor_gain | 1.0000 |
| 2:3193961:AATCC:A | donor_gain | 1.0000 |
| 2:3193972:C:A | donor_gain | 1.0000 |
| 2:3193993:CCCTA:C | donor_loss | 1.0000 |
| 2:3193994:CCTAC:C | donor_loss | 1.0000 |
| 2:3193995:CTA:C | donor_loss | 1.0000 |
| 2:3193996:TAC:T | donor_loss | 1.0000 |
| 2:3193997:A:AC | donor_gain | 1.0000 |
| 2:3193997:A:T | donor_loss | 1.0000 |
| 2:3193998:C:CC | donor_gain | 1.0000 |
| 2:3194162:TCTGG:T | acceptor_loss | 1.0000 |
| 2:3194163:CTGG:C | acceptor_gain | 1.0000 |
| 2:3194163:CTGGC:C | acceptor_loss | 1.0000 |
| 2:3194164:TGG:T | acceptor_gain | 1.0000 |
| 2:3194166:GCTG:G | acceptor_loss | 1.0000 |
| 2:3194167:C:CC | acceptor_gain | 1.0000 |
| 2:3194167:CT:C | acceptor_loss | 1.0000 |
| 2:3194168:T:G | acceptor_loss | 1.0000 |
| 2:3194186:A:T | acceptor_gain | 1.0000 |
| 2:3197040:C:CT | acceptor_gain | 1.0000 |
AlphaMissense
2583 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:3189352:C:A | K382N | 1.000 |
| 2:3189352:C:G | K382N | 1.000 |
| 2:3189397:G:C | S367R | 1.000 |
| 2:3189397:G:T | S367R | 1.000 |
| 2:3189399:T:G | S367R | 1.000 |
| 2:3189407:G:T | A364D | 1.000 |
| 2:3189417:A:G | W361R | 1.000 |
| 2:3189417:A:T | W361R | 1.000 |
| 2:3189433:C:A | W355C | 1.000 |
| 2:3189433:C:G | W355C | 1.000 |
| 2:3189435:A:G | W355R | 1.000 |
| 2:3189435:A:T | W355R | 1.000 |
| 2:3189449:A:T | V350D | 1.000 |
| 2:3189451:G:C | S349R | 1.000 |
| 2:3189451:G:T | S349R | 1.000 |
| 2:3189453:T:G | S349R | 1.000 |
| 2:3192522:T:A | D294V | 1.000 |
| 2:3192523:C:G | D294H | 1.000 |
| 2:3192524:A:C | S293R | 1.000 |
| 2:3192524:A:T | S293R | 1.000 |
| 2:3192526:T:G | S293R | 1.000 |
| 2:3192527:G:C | S292R | 1.000 |
| 2:3192527:G:T | S292R | 1.000 |
| 2:3192528:C:A | S292I | 1.000 |
| 2:3192529:T:G | S292R | 1.000 |
| 2:3192543:A:G | L287P | 1.000 |
| 2:3194000:A:G | W274R | 1.000 |
| 2:3194000:A:T | W274R | 1.000 |
| 2:3194003:G:C | H273D | 1.000 |
| 2:3194054:A:G | W256R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000008140 (2:3287836 T>C), RS1000040378 (2:3331165 G>A,C), RS1000043431 (2:3251656 G>C), RS1000067738 (2:3363551 C>A,T), RS1000085371 (2:3322839 G>A), RS1000096348 (2:3306790 C>T), RS1000097549 (2:3325497 C>T), RS1000098279 (2:3363375 A>C,G), RS1000100495 (2:3209653 G>A), RS1000118292 (2:3288012 C>T), RS1000128929 (2:3267505 A>G), RS1000130178 (2:3283292 C>A), RS1000180034 (2:3310014 G>A), RS1000199259 (2:3225768 T>G), RS1000206642 (2:3366698 G>A)
Disease associations
OMIM: gene MIM:608998 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002726_73 | Glucose homeostasis traits | 1.000000e-06 |
| GCST003075_105 | Cognitive decline rate in late mild cognitive impairment | 7.000000e-09 |
| GCST003075_84 | Cognitive decline rate in late mild cognitive impairment | 5.000000e-10 |
| GCST003097_36 | Pediatric autoimmune diseases | 2.000000e-07 |
| GCST003458_1 | World class endurance athleticism | 2.000000e-06 |
| GCST003809_5 | Response to selective serotonin reuptake inhibitors and depression | 2.000000e-06 |
| GCST007622_1 | Impulsivity | 1.000000e-07 |
| GCST007628_2 | Impulsivity (motor) | 9.000000e-07 |
| GCST007629_2 | Impulsivity (non-planning) | 4.000000e-07 |
| GCST010002_383 | Refractive error | 5.000000e-10 |
| GCST010345_1 | TPE interval (response to exercise) | 2.000000e-08 |
| GCST010727_3 | Deep white matter hyperintensities | 3.000000e-06 |
| GCST012305_6 | Major depressive disorder x sex interaction | 4.000000e-06 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004471 | insulin sensitivity measurement |
| EFO:0007710 | cognitive decline measurement |
| EFO:0007818 | athletic endurance measurement |
| EFO:0005658 | response to selective serotonin reuptake inhibitor |
| EFO:0006946 | behavioural disinhibition measurement |
| EFO:0004644 | TPE interval measurement |
| EFO:0007768 | response to exercise |
| EFO:0005665 | white matter hyperintensity measurement |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression | 6 |
| bisphenol A | decreases expression, decreases methylation | 2 |
| Air Pollutants | increases abundance, increases oxidation, decreases expression, affects cotreatment | 2 |
| Arsenic | increases abundance, affects methylation, decreases expression | 2 |
| Aflatoxin B1 | affects methylation, decreases methylation, affects expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | increases abundance, decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases oxidation | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Fluorouracil | decreases expression, affects reaction | 1 |
| Gallic Acid | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Ozone | affects cotreatment, increases oxidation, increases abundance | 1 |
| Thiram | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1QY | Abcam HeLa EIPR1 KO | Cancer cell line | Female |
| CVCL_TU97 | HAP1 TSSC1 (-) 1 | Cancer cell line | Male |
| CVCL_TU98 | HAP1 TSSC1 (-) 2 | Cancer cell line | Male |
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): ankylosing spondylitis, autoimmune disease, autoimmune thyroid disease, celiac disease, common variable immunodeficiency, juvenile idiopathic arthritis, major depressive disorder, mood disorder, psoriasis, systemic lupus erythematosus, type 1 diabetes mellitus, ulcerative colitis