ERMP1
gene geneOn this page
Also known as FLJ23309FXNA
Summary
ERMP1 (endoplasmic reticulum metallopeptidase 1, HGNC:23703) is a protein-coding gene on chromosome 9p24.1, encoding Endoplasmic reticulum metallopeptidase 1 (Q7Z2K6). Within the ovary, required for the organization of somatic cells and oocytes into discrete follicular structures.
Predicted to enable metal ion binding activity and metalloexopeptidase activity. Involved in cellular response to oxidative stress. Acts upstream of or within endoplasmic reticulum unfolded protein response. Located in membrane.
Source: NCBI Gene 79956 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 159 total — 2 pathogenic
- Phenotypes (HPO): 1
- Druggable target: yes
- MANE Select transcript:
NM_024896
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23703 |
| Approved symbol | ERMP1 |
| Name | endoplasmic reticulum metallopeptidase 1 |
| Location | 9p24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ23309, FXNA |
| Ensembl gene | ENSG00000099219 |
| Ensembl biotype | protein_coding |
| OMIM | 611156 |
| Entrez | 79956 |
Gene structure
Transcript identifiers
Ensembl transcripts: 39 — 18 protein_coding, 16 nonsense_mediated_decay, 4 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000214893, ENST00000339450, ENST00000462592, ENST00000475005, ENST00000487088, ENST00000489219, ENST00000684950, ENST00000685462, ENST00000686418, ENST00000688202, ENST00000688283, ENST00000688887, ENST00000688899, ENST00000689030, ENST00000689259, ENST00000689268, ENST00000689364, ENST00000689671, ENST00000689742, ENST00000690037, ENST00000690284, ENST00000690648, ENST00000690753, ENST00000691058, ENST00000691251, ENST00000691560, ENST00000692524, ENST00000692974, ENST00000693487, ENST00000693638, ENST00000908727, ENST00000908728, ENST00000908729, ENST00000908730, ENST00000914774, ENST00000914775, ENST00000914776, ENST00000943573, ENST00000943574
RefSeq mRNA: 2 — MANE Select: NM_024896
NM_001410952, NM_024896
CCDS: CCDS34983, CCDS94378
Canonical transcript exons
ENST00000339450 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001659147 | 5784572 | 5787308 |
| ENSE00001838248 | 5832690 | 5833117 |
| ENSE00003459953 | 5787430 | 5787593 |
| ENSE00003463105 | 5797817 | 5797932 |
| ENSE00003495105 | 5825092 | 5825219 |
| ENSE00003496114 | 5823896 | 5824001 |
| ENSE00003506226 | 5801176 | 5801328 |
| ENSE00003515678 | 5805027 | 5805217 |
| ENSE00003532137 | 5798806 | 5799008 |
| ENSE00003532567 | 5830727 | 5831028 |
| ENSE00003621862 | 5805611 | 5805785 |
| ENSE00003658784 | 5810011 | 5810231 |
| ENSE00003664270 | 5812889 | 5813035 |
| ENSE00003666426 | 5811111 | 5811323 |
| ENSE00003669659 | 5812125 | 5812217 |
Expression profiles
Bgee: expression breadth ubiquitous, 284 present calls, max score 99.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.8026 / max 261.2606, expressed in 1647 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 99841 | 8.5527 | 1644 |
| 99840 | 0.2377 | 134 |
| 99839 | 0.0122 | 4 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| palpebral conjunctiva | UBERON:0001812 | 99.15 | gold quality |
| renal medulla | UBERON:0000362 | 98.22 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 98.08 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 96.92 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 96.77 | gold quality |
| urethra | UBERON:0000057 | 96.76 | gold quality |
| secondary oocyte | CL:0000655 | 96.40 | gold quality |
| decidua | UBERON:0002450 | 96.39 | gold quality |
| oocyte | CL:0000023 | 96.02 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.98 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 95.64 | gold quality |
| retina | UBERON:0000966 | 95.62 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 95.57 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 95.50 | gold quality |
| medial globus pallidus | UBERON:0002477 | 95.40 | gold quality |
| oral cavity | UBERON:0000167 | 95.37 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 95.34 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 95.32 | gold quality |
| pons | UBERON:0000988 | 95.09 | gold quality |
| globus pallidus | UBERON:0001875 | 95.05 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.85 | gold quality |
| penis | UBERON:0000989 | 94.81 | gold quality |
| squamous epithelium | UBERON:0006914 | 94.67 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 94.35 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 94.35 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.25 | gold quality |
| sperm | CL:0000019 | 94.24 | gold quality |
| mammalian vulva | UBERON:0000997 | 94.07 | gold quality |
| colonic mucosa | UBERON:0000317 | 94.04 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 93.69 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.40 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
129 targeting ERMP1, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-652-5P | 99.91 | 67.49 | 505 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-3133 | 99.81 | 70.92 | 3506 |
Literature-anchored findings (GeneRIF, showing 2)
- Functional analysis of the rat Fxna ortholog. (PMID:17267443)
- High expression of ERMP1 is correlated with cancer. (PMID:27566589)
Cross-species orthologs
16 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| ENSDARG00000107947 | ||
| danio_rerio | ENSDARG00000110653 | |
| mus_musculus | Ermp1 | ENSMUSG00000046324 |
| rattus_norvegicus | Ermp1 | ENSRNOG00000010915 |
| drosophila_melanogaster | CG13160 | FBGN0033720 |
| drosophila_melanogaster | CG11961 | FBGN0034436 |
| drosophila_melanogaster | CG10051 | FBGN0034437 |
| drosophila_melanogaster | CG9416 | FBGN0034438 |
| drosophila_melanogaster | CG10062 | FBGN0034439 |
| drosophila_melanogaster | CG10073 | FBGN0034440 |
| drosophila_melanogaster | CG10081 | FBGN0034441 |
| drosophila_melanogaster | CG30043 | FBGN0050043 |
| drosophila_melanogaster | CG30047 | FBGN0050047 |
| drosophila_melanogaster | CG30049 | FBGN0050049 |
| drosophila_melanogaster | CG33012 | FBGN0053012 |
| caenorhabditis_elegans | WBGENE00015206 |
Protein
Protein identifiers
Endoplasmic reticulum metallopeptidase 1 — Q7Z2K6 (reviewed: Q7Z2K6)
Alternative names: Felix-ina
All UniProt accessions (15): Q7Z2K6, A0A0C4DGF0, A0A8I5KNY4, A0A8I5KR85, A0A8I5KUT1, A0A8I5KWW9, A0A8I5KXJ0, A0A8I5KYJ3, A0A8I5QJH1, A0A8I5QJM6, A0A8I5QJQ5, A0A8I5QJT4, A0A8I5QKK8, A0A8I5QL16, E7ER77
UniProt curated annotations — full annotation on UniProt →
Function. Within the ovary, required for the organization of somatic cells and oocytes into discrete follicular structures.
Subcellular location. Endoplasmic reticulum membrane.
Cofactor. Binds 2 Zn(2+) ions per subunit.
Similarity. Belongs to the peptidase M28 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z2K6-1 | 1 | yes |
| Q7Z2K6-2 | 2 |
RefSeq proteins (2): NP_001397881, NP_079172* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007484 | Peptidase_M28 | Domain |
| IPR045175 | M28_fam | Family |
| IPR048024 | Fxna-like_M28_dom | Domain |
| IPR053973 | ERMP1-like_C | Domain |
| IPR053974 | ERMP1_1-A_TM | Domain |
Pfam: PF04389, PF22248, PF22249
UniProt features (39 total): topological domain 10, transmembrane region 9, binding site 6, glycosylation site 2, splice variant 2, sequence conflict 2, chain 1, region of interest 1, compositionally biased region 1, active site 1, site 1, modified residue 1, disulfide bond 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z2K6-F1 | 89.45 | 0.80 |
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 (2): 251 (proton acceptor); 353 (transition state stabilizer)
Ligand- & substrate-binding residues (6): 205; 217; 217; 252; 278; 354
Post-translational modifications (1): 1
Disulfide bonds (1): 204–222
Glycosylation sites (2): 182, 730
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 180 (showing top):
AGGAAGC_MIR5163P, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOMF_METALLOPEPTIDASE_ACTIVITY, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_DN, GOBP_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN, PATIL_LIVER_CANCER, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, KIM_GERMINAL_CENTER_T_HELPER_UP, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, ONDER_CDH1_SIGNALING_VIA_CTNNB1, TGCCTTA_MIR124A, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN
GO Biological Process (3): proteolysis (GO:0006508), endoplasmic reticulum unfolded protein response (GO:0030968), cellular response to oxidative stress (GO:0034599)
GO Molecular Function (6): metalloexopeptidase activity (GO:0008235), metal ion binding (GO:0046872), protein binding (GO:0005515), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237), hydrolase activity (GO:0016787)
GO Cellular Component (3): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), endoplasmic reticulum (GO:0005783)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein metabolic process | 1 |
| cellular response to unfolded protein | 1 |
| response to endoplasmic reticulum stress | 1 |
| intracellular signal transduction | 1 |
| response to oxidative stress | 1 |
| cellular response to chemical stress | 1 |
| metallopeptidase activity | 1 |
| exopeptidase activity | 1 |
| cation binding | 1 |
| binding | 1 |
| hydrolase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| peptidase activity | 1 |
| catalytic activity | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
850 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ERMP1 | RIC1 | Q4ADV7 | 659 |
| ERMP1 | BRD10 | Q5HYC2 | 602 |
| ERMP1 | UPP2 | O95045 | 529 |
| ERMP1 | COMMD2 | Q86X83 | 519 |
| ERMP1 | UPP1 | Q16831 | 490 |
| ERMP1 | TOR1AIP1 | Q5JTV8 | 474 |
| ERMP1 | COMMD4 | Q9H0A8 | 464 |
| ERMP1 | UHRF2 | Q96PU4 | 462 |
| ERMP1 | PITRM1 | Q5JRX3 | 462 |
| ERMP1 | MRPL38 | Q96DV4 | 456 |
| ERMP1 | TMTC2 | Q8N394 | 453 |
| ERMP1 | WDR81 | Q562E7 | 453 |
| ERMP1 | CHST14 | Q8NCH0 | 450 |
| ERMP1 | TASP1 | Q9H6P5 | 428 |
| ERMP1 | DMRT3 | Q9NQL9 | 427 |
IntAct
276 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAH | FAM83G | psi-mi:“MI:0914”(association) | 0.710 |
| NIPAL1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.640 |
| ERMP1 | CD200R1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERMP1 | GPR42 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERMP1 | SLC22A23 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERMP1 | TMEM45A | psi-mi:“MI:0915”(physical association) | 0.560 |
| BSCL2 | ERMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERMP1 | ATP1B4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERMP1 | SLC13A4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERMP1 | TMEM237 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERMP1 | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLRC1 | ERMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERMP1 | BCL2L13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERMP1 | CLEC2D | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERMP1 | SPAG4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERMP1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| AQP6 | ERMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM209A | ERMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLDN5 | ERMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERMP1 | SSMEM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LYPD5 | ERMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP2 | ERMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| IFNGR2 | ERMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERMP1 | MR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLDN7 | ERMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HIBADH | ERMP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (220): ERMP1 (Affinity Capture-MS), ERMP1 (Affinity Capture-MS), ERMP1 (Affinity Capture-MS), ERMP1 (Affinity Capture-MS), ERMP1 (Affinity Capture-MS), ERMP1 (Affinity Capture-MS), ERMP1 (Affinity Capture-MS), ERMP1 (Affinity Capture-MS), ERMP1 (Co-fractionation), ERMP1 (Affinity Capture-MS), ERMP1 (Affinity Capture-MS), ERMP1 (Affinity Capture-MS), ERMP1 (Affinity Capture-MS), ERMP1 (Affinity Capture-MS), ERMP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D6L709, A2XYW8, A3ACF3, F4JJH5, F4KEL0, O43023, O54697, O64481, P47161, P52708, P91406, Q0DCM5, Q0DM48, Q0J930, Q0JJD4, Q1PDX5, Q2KNB4, Q2KNB7, Q3UVK0, Q43763, Q53NL5, Q5NAT0, Q5WN23, Q5Z678, Q5Z8T8, Q6Z398, Q6ZLK0, Q7M758, Q7Y228, Q7Z2K6, Q84WS0, Q852M4, Q8GUK4, Q8H3C9, Q8H7L6, Q8LH82, Q8RUV9, Q90997, Q9FIG1, Q9FIG2
Diamond homologs: A1CR68, A1D432, A2RAN5, A3LW86, A4R254, A6QS12, A6S8A1, A7F4S1, A8N513, B0DC53, B0XPG0, B2B585, B2W0S3, B6H1I3, B6K327, B6Q656, B8M853, B8NSP6, B9WCV6, C0NU79, C0S345, C1G0X0, C1GTI3, C4YS59, C5FDH0, C5G8H4, C5JPM9, C5M545, C5P998, C6H1N5, C7Z274, C8V4D5, C9SXB4, D1ZV85, D4AMV1, D4D8C1, D5GI81, D8QAM0, E3Q4R4, E3RFJ1
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ERMP1 | “up-regulates activity” | UPR |
Disease & clinical
Clinical variants and AI predictions
ClinVar
159 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 132 |
| Likely benign | 4 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 815188 | GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 | Pathogenic |
| 815189 | GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 | Pathogenic |
SpliceAI
4357 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:5753198:A:AG | acceptor_gain | 1.0000 |
| 9:5753199:G:GG | acceptor_gain | 1.0000 |
| 9:5753236:CGGGT:C | donor_loss | 1.0000 |
| 9:5753237:GG:G | donor_gain | 1.0000 |
| 9:5753238:GG:G | donor_gain | 1.0000 |
| 9:5753238:GGTG:G | donor_loss | 1.0000 |
| 9:5753239:G:C | donor_loss | 1.0000 |
| 9:5753240:T:G | donor_loss | 1.0000 |
| 9:5753534:A:AG | acceptor_gain | 1.0000 |
| 9:5753535:G:GG | acceptor_gain | 1.0000 |
| 9:5754931:G:GA | donor_loss | 1.0000 |
| 9:5754932:T:TC | donor_loss | 1.0000 |
| 9:5756210:A:AG | acceptor_gain | 1.0000 |
| 9:5756211:G:GA | acceptor_gain | 1.0000 |
| 9:5756211:GC:G | acceptor_gain | 1.0000 |
| 9:5756211:GCT:G | acceptor_gain | 1.0000 |
| 9:5756211:GCTT:G | acceptor_gain | 1.0000 |
| 9:5756211:GCTTA:G | acceptor_gain | 1.0000 |
| 9:5756368:GATGG:G | donor_gain | 1.0000 |
| 9:5756369:ATGGG:A | donor_loss | 1.0000 |
| 9:5756370:TGGGT:T | donor_loss | 1.0000 |
| 9:5756371:GG:G | donor_gain | 1.0000 |
| 9:5756371:GGGTA:G | donor_loss | 1.0000 |
| 9:5756372:GG:G | donor_gain | 1.0000 |
| 9:5756372:GGTA:G | donor_loss | 1.0000 |
| 9:5756373:G:GG | donor_gain | 1.0000 |
| 9:5756373:GTAA:G | donor_loss | 1.0000 |
| 9:5756374:T:G | donor_loss | 1.0000 |
| 9:5757311:A:AG | acceptor_gain | 1.0000 |
| 9:5757312:G:GA | acceptor_gain | 1.0000 |
AlphaMissense
5910 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:5812177:G:C | H354Q | 1.000 |
| 9:5812177:G:T | H354Q | 1.000 |
| 9:5812179:G:C | H354D | 1.000 |
| 9:5812179:G:T | H354N | 1.000 |
| 9:5812205:G:T | A345D | 1.000 |
| 9:5812924:T:A | D329V | 1.000 |
| 9:5812927:G:A | T328I | 1.000 |
| 9:5812953:A:C | F319L | 1.000 |
| 9:5812953:A:T | F319L | 1.000 |
| 9:5812954:A:C | F319C | 1.000 |
| 9:5812955:A:G | F319L | 1.000 |
| 9:5823903:G:C | F289L | 1.000 |
| 9:5823903:G:T | F289L | 1.000 |
| 9:5823904:A:G | F289S | 1.000 |
| 9:5823905:A:G | F289L | 1.000 |
| 9:5823928:C:T | G281D | 1.000 |
| 9:5823937:T:A | E278V | 1.000 |
| 9:5825105:T:A | E252V | 1.000 |
| 9:5825107:C:A | E251D | 1.000 |
| 9:5825107:C:G | E251D | 1.000 |
| 9:5825108:T:A | E251V | 1.000 |
| 9:5825209:A:C | D217E | 1.000 |
| 9:5825209:A:T | D217E | 1.000 |
| 9:5825210:T:A | D217V | 1.000 |
| 9:5825210:T:G | D217A | 1.000 |
| 9:5825211:C:A | D217Y | 1.000 |
| 9:5825211:C:G | D217H | 1.000 |
| 9:5801188:T:A | R685S | 0.999 |
| 9:5801188:T:G | R685S | 0.999 |
| 9:5805105:T:A | R612S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000026131 (9:5793429 G>A,C), RS1000041524 (9:5827790 G>A,C), RS1000054927 (9:5809540 CTT>C,CTTT), RS1000148524 (9:5851282 C>T), RS1000162158 (9:5814470 C>A), RS1000170766 (9:5847386 A>G), RS1000179226 (9:5814642 A>C), RS1000198080 (9:5828006 A>G), RS1000218699 (9:5860593 T>G), RS1000226338 (9:5809359 T>G), RS1000272188 (9:5855532 C>T), RS1000280395 (9:5809682 T>C), RS1000364678 (9:5832234 G>A), RS1000365202 (9:5865423 G>A), RS1000396451 (9:5865317 T>C)
Disease associations
OMIM: gene MIM:611156 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (1): autism (MONDO:0005260)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006988_120 | Blond vs. brown/black hair color | 6.000000e-11 |
| GCST008155_52 | Waist-hip ratio | 4.000000e-06 |
| GCST008916_119 | Asthma | 1.000000e-15 |
| GCST009798_74 | Asthma | 2.000000e-15 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003924 | hair color |
| EFO:0004343 | waist-hip ratio |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066506 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.40 | Kd | 3993 | nM | CHEMBL5653589 |
| 5.34 | ED50 | 4553 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2148335: Binding affinity to human ERMP1 incubated for 45 mins by Kinobead based pull down assay | kd | 3.9935 | uM |
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression, affects cotreatment | 6 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Tetrachlorodibenzodioxin | affects expression, decreases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 3 |
| methylmercuric chloride | decreases expression | 2 |
| perfluorooctanoic acid | decreases expression | 2 |
| Calcitriol | increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bufotalin | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| potassium chromate(VI) | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic | affects expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cisplatin | affects expression | 1 |
| Diuron | decreases expression | 1 |
| Ivermectin | decreases expression | 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 |
|---|---|---|---|
| CHEMBL5651377 | Binding | Binding affinity to human ERMP1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1RI | Abcam HeLa ERMP1 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.