EMC3
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Summary
EMC3 (ER membrane protein complex subunit 3, HGNC:23999) is a protein-coding gene on chromosome 3p25.3, encoding ER membrane protein complex subunit 3 (Q9P0I2). Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins. It is a selective cancer dependency (DepMap: 79.4% of cell lines).
Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex.
Source: NCBI Gene 55831 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 36 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 79.4% of screened cell lines
- MANE Select transcript:
NM_001394674
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23999 |
| Approved symbol | EMC3 |
| Name | ER membrane protein complex subunit 3 |
| Location | 3p25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000125037 |
| Ensembl biotype | protein_coding |
| OMIM | 620273 |
| Entrez | 55831 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 6 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000245046, ENST00000429759, ENST00000470827, ENST00000487465, ENST00000497557, ENST00000685575, ENST00000686016, ENST00000693754, ENST00000881006, ENST00000881007
RefSeq mRNA: 2 — MANE Select: NM_001394674
NM_001394674, NM_018447
CCDS: CCDS2594
Canonical transcript exons
ENST00000245046 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000852115 | 9969719 | 9969801 |
| ENSE00001324597 | 9962682 | 9964197 |
| ENSE00001901463 | 9986507 | 9986841 |
| ENSE00003471802 | 9977389 | 9977446 |
| ENSE00003535381 | 9973628 | 9973709 |
| ENSE00003611574 | 9976957 | 9977050 |
| ENSE00003620923 | 9970582 | 9970661 |
| ENSE00003688294 | 9974384 | 9974488 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 98.40.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 58.8229 / max 423.8560, expressed in 1826 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 41010 | 56.7426 | 1826 |
| 41013 | 1.7430 | 909 |
| 41011 | 0.1760 | 62 |
| 41014 | 0.1613 | 53 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| triceps brachii | UBERON:0001509 | 98.40 | gold quality |
| gluteal muscle | UBERON:0002000 | 98.34 | gold quality |
| monocyte | CL:0000576 | 98.21 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.21 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.16 | gold quality |
| biceps brachii | UBERON:0001507 | 98.15 | gold quality |
| mononuclear cell | CL:0000842 | 98.03 | gold quality |
| muscle of leg | UBERON:0001383 | 97.90 | gold quality |
| leukocyte | CL:0000738 | 97.85 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 97.82 | gold quality |
| muscle organ | UBERON:0001630 | 97.60 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.59 | gold quality |
| heart right ventricle | UBERON:0002080 | 97.21 | gold quality |
| islet of Langerhans | UBERON:0000006 | 97.12 | gold quality |
| stromal cell of endometrium | CL:0002255 | 97.02 | gold quality |
| diaphragm | UBERON:0001103 | 97.00 | gold quality |
| vastus lateralis | UBERON:0001379 | 96.89 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 96.83 | gold quality |
| quadriceps femoris | UBERON:0001377 | 96.71 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 96.68 | gold quality |
| blood | UBERON:0000178 | 96.50 | gold quality |
| rectum | UBERON:0001052 | 96.50 | gold quality |
| deltoid | UBERON:0001476 | 96.45 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.23 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.13 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.12 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 96.10 | gold quality |
| left testis | UBERON:0004533 | 96.10 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.97 | gold quality |
| right testis | UBERON:0004534 | 95.88 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 11.61 |
| E-MTAB-9221 | yes | 10.90 |
| E-HCAD-9 | yes | 5.67 |
| E-MTAB-7606 | no | 681.97 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
56 targeting EMC3, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-3059-5P | 99.70 | 69.93 | 2491 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-378A-5P | 99.65 | 66.33 | 1311 |
| HSA-MIR-4502 | 99.65 | 66.99 | 1021 |
| HSA-MIR-6848-3P | 99.64 | 66.49 | 885 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-516A-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-516B-3P | 99.46 | 67.96 | 1378 |
| HSA-MIR-7162-5P | 99.46 | 68.08 | 1368 |
| HSA-MIR-150-3P | 99.43 | 70.51 | 920 |
| HSA-MIR-4318 | 99.38 | 66.94 | 1505 |
| HSA-MIR-2116-5P | 99.32 | 69.34 | 1273 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 79.4% of screened cell lines.
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | emc3 | ENSDARG00000020607 |
| mus_musculus | Emc3 | ENSMUSG00000030286 |
| rattus_norvegicus | Emc3 | ENSRNOG00000009934 |
| drosophila_melanogaster | EMC3 | FBGN0032292 |
| caenorhabditis_elegans | WBGENE00013378 |
Protein
Protein identifiers
ER membrane protein complex subunit 3 — Q9P0I2 (reviewed: Q9P0I2)
Alternative names: Transmembrane protein 111
All UniProt accessions (5): Q9P0I2, A0A8I5KPL4, A0A8I5KS41, A0A8I5KU67, S4R3U9
UniProt curated annotations — full annotation on UniProt →
Function. Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins. Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues. Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices. It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes. By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors. By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes.
Subunit / interactions. Component of the ER membrane protein complex (EMC).
Subcellular location. Endoplasmic reticulum membrane.
Similarity. Belongs to the EMC3 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9P0I2-1 | 1 | yes |
| Q9P0I2-2 | 2 |
RefSeq proteins (2): NP_001381603, NP_060917 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002809 | EMC3/TMCO1 | Family |
| IPR008568 | EMC3 | Family |
Pfam: PF01956
UniProt features (43 total): helix 14, mutagenesis site 9, strand 6, sequence conflict 4, topological domain 4, transmembrane region 3, initiator methionine 1, chain 1, splice variant 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8J0O | ELECTRON MICROSCOPY | 3.32 |
| 7ADO | ELECTRON MICROSCOPY | 3.39 |
| 6WW7 | ELECTRON MICROSCOPY | 3.4 |
| 8EOI | ELECTRON MICROSCOPY | 3.4 |
| 8J0N | ELECTRON MICROSCOPY | 3.47 |
| 7ADP | ELECTRON MICROSCOPY | 3.6 |
| 8S9S | ELECTRON MICROSCOPY | 3.6 |
| 9ZZ6 | ELECTRON MICROSCOPY | 4.16 |
| 6Z3W | ELECTRON MICROSCOPY | 6.4 |
| 9C7V | ELECTRON MICROSCOPY | 6.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P0I2-F1 | 78.38 | 0.22 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (9):
| Position | Phenotype |
|---|---|
| 31 | no effect on emc assembly but decreased membrane insertion of hydrophobic transmembrane helices-containing proteins by t |
| 31 | no effect on emc assembly and no effect on membrane insertion of hydrophobic transmembrane helices-containing proteins b |
| 101 | no effect on emc assembly but decreased membrane insertion of hydrophobic transmembrane helices-containing proteins by t |
| 106 | no effect on emc assembly but decreased membrane insertion of hydrophobic transmembrane helices-containing proteins by t |
| 110 | no effect on emc assembly but decreased membrane insertion of hydrophobic transmembrane helices-containing proteins by t |
| 111 | no effect on emc assembly but decreased membrane insertion of hydrophobic transmembrane helices-containing proteins by t |
| 173 | no effect on emc assembly and no effect on membrane insertion of hydrophobic transmembrane helices-containing proteins b |
| 180 | no effect on emc assembly but decreased membrane insertion of hydrophobic transmembrane helices-containing proteins by t |
| 180 | no effect on emc assembly and no effect on membrane insertion of hydrophobic transmembrane helices-containing proteins b |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8980692 | RHOA GTPase cycle |
MSigDB gene sets: 174 (showing top):
E2F_Q4, E2F4DP1_01, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, TGACCTY_ERR1_Q2, E2F1DP1_01, E2F1DP2_01, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, PETRETTO_BLOOD_PRESSURE_UP, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, RYTTCCTG_ETS2_B, GOBP_MEMBRANE_ORGANIZATION, GOBP_ENDOPLASMIC_RETICULUM_ORGANIZATION, GOBP_LOCALIZATION_WITHIN_MEMBRANE, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN
GO Biological Process (2): protein insertion into ER membrane by stop-transfer membrane-anchor sequence (GO:0045050), tail-anchored membrane protein insertion into ER membrane (GO:0071816)
GO Molecular Function (2): protein binding (GO:0005515), membrane insertase activity (GO:0032977)
GO Cellular Component (4): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), EMC complex (GO:0072546), endoplasmic reticulum (GO:0005783)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein insertion into ER membrane | 2 |
| binding | 1 |
| establishment of protein localization to membrane | 1 |
| protein carrier activity | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| cellular anatomical structure | 1 |
| endoplasmic reticulum membrane | 1 |
| membrane protein complex | 1 |
| endoplasmic reticulum protein-containing complex | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
918 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EMC3 | EMC6 | Q9BV81 | 904 |
| EMC3 | EMC2 | Q15006 | 895 |
| EMC3 | EMC1 | Q8N766 | 892 |
| EMC3 | EMC4 | Q5J8M3 | 891 |
| EMC3 | MMGT1 | Q8N4V1 | 885 |
| EMC3 | EMC7 | Q9NPA0 | 827 |
| EMC3 | GET1 | O00258 | 795 |
| EMC3 | EMC8 | O43402 | 794 |
| EMC3 | EMC9 | Q9Y3B6 | 774 |
| EMC3 | DERL2 | Q9GZP9 | 758 |
| EMC3 | OXA1L | Q15070 | 733 |
| EMC3 | EMC10 | Q5UCC4 | 710 |
| EMC3 | TMCO1 | Q9UM00 | 690 |
| EMC3 | UBAC2 | Q8NBM4 | 685 |
| EMC3 | GET3 | O43681 | 606 |
IntAct
109 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EMC2 | EMC8 | psi-mi:“MI:0914”(association) | 0.940 |
| EMC8 | EMC2 | psi-mi:“MI:0914”(association) | 0.940 |
| EMC3 | EMC2 | psi-mi:“MI:0915”(physical association) | 0.860 |
| EMC2 | EMC10 | psi-mi:“MI:0914”(association) | 0.800 |
| EMC7 | EMC8 | psi-mi:“MI:0914”(association) | 0.790 |
| EMC3 | EMC8 | psi-mi:“MI:0914”(association) | 0.730 |
| MMGT1 | EMC8 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| EMC1 | EMC8 | psi-mi:“MI:0914”(association) | 0.640 |
| TRDN | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| EMC4 | EMC8 | psi-mi:“MI:0914”(association) | 0.640 |
| SLC12A2 | CLGN | psi-mi:“MI:0914”(association) | 0.640 |
| EMC10 | EMC8 | psi-mi:“MI:0915”(physical association) | 0.620 |
| MTAP | EMC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (211): EMC3 (Affinity Capture-MS), EMC3 (Affinity Capture-MS), EMC3 (Affinity Capture-MS), EMC3 (Affinity Capture-MS), EMC3 (Affinity Capture-MS), EMC3 (Affinity Capture-MS), EMC9 (Affinity Capture-MS), UBQLN2 (Affinity Capture-MS), EMC8 (Affinity Capture-MS), EMC2 (Affinity Capture-MS), EMC1 (Affinity Capture-MS), EMC7 (Affinity Capture-MS), EMC3 (Affinity Capture-MS), EMC3 (Affinity Capture-MS), EMC3 (Affinity Capture-MS)
ESM2 similar proteins: A8N0V8, B2RZ37, C0HLM6, D3Z7Q2, F1MDB2, O35092, O49636, O60830, O80840, O95563, P00130, P08200, P0CM24, P0CM25, P11024, P38718, P39515, P59670, Q00765, Q13423, Q29RM3, Q2HJE9, Q3ZCB8, Q5BIN4, Q5M7K0, Q5R4Z3, Q5R7C1, Q5RE33, Q5U2V8, Q5U4U5, Q60870, Q61941, Q68EQ9, Q6INE8, Q6PBX9, Q6ZL94, Q7SXW4, Q8L7H8, Q8LD38, Q8N5G0
Diamond homologs: A7A082, B3LQQ2, B5VLV9, P36039, Q3ZCB8, Q54YN3, Q5R7C1, Q5U2V8, Q7SXW4, Q99KI3, Q9P0I2, Q9P787
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EMC3 | “form complex” | “Endoplasmic reticulum membrane complex- EMC9 variant” | binding |
| EMC3 | “form complex” | “Endoplasmic reticulum membrane complex, EMC8 variant” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 115 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 |
|---|---|---|---|
| Defective CFTR causes cystic fibrosis | 5 | 15.5× | 4e-03 |
| Anchoring of the basal body to the plasma membrane | 9 | 14.3× | 5e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| tail-anchored membrane protein insertion into ER membrane | 9 | 86.9× | 7e-14 |
| ERAD pathway | 9 | 16.8× | 6e-07 |
| cilium assembly | 8 | 6.1× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
36 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 21 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1242 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:9964194:CTGT:C | acceptor_gain | 1.0000 |
| 3:9964218:C:T | acceptor_gain | 1.0000 |
| 3:9970576:TCTTA:T | donor_loss | 1.0000 |
| 3:9970577:CTTAC:C | donor_loss | 1.0000 |
| 3:9970578:TTACC:T | donor_loss | 1.0000 |
| 3:9970579:TACCA:T | donor_loss | 1.0000 |
| 3:9970580:A:T | donor_loss | 1.0000 |
| 3:9970581:C:CA | donor_loss | 1.0000 |
| 3:9970657:TCACC:T | acceptor_gain | 1.0000 |
| 3:9970658:CACC:C | acceptor_gain | 1.0000 |
| 3:9970658:CACCC:C | acceptor_gain | 1.0000 |
| 3:9970659:ACC:A | acceptor_gain | 1.0000 |
| 3:9970660:CC:C | acceptor_gain | 1.0000 |
| 3:9970660:CCC:C | acceptor_gain | 1.0000 |
| 3:9970661:CC:C | acceptor_gain | 1.0000 |
| 3:9970662:C:CC | acceptor_gain | 1.0000 |
| 3:9970671:C:CT | acceptor_gain | 1.0000 |
| 3:9973705:CTTGG:C | acceptor_gain | 1.0000 |
| 3:9974382:A:AC | donor_gain | 1.0000 |
| 3:9974383:C:CC | donor_gain | 1.0000 |
| 3:9977051:C:CC | acceptor_gain | 1.0000 |
| 3:9977442:CTTGA:C | acceptor_gain | 1.0000 |
| 3:9986503:TGA:T | donor_loss | 1.0000 |
| 3:9986504:GACCT:G | donor_loss | 1.0000 |
| 3:9986505:ACCTG:A | donor_loss | 1.0000 |
| 3:9986506:C:CG | donor_loss | 1.0000 |
| 3:9964195:TGT:T | acceptor_gain | 0.9900 |
| 3:9964197:TCT:T | acceptor_loss | 0.9900 |
| 3:9964198:C:CA | acceptor_loss | 0.9900 |
| 3:9964198:C:CC | acceptor_gain | 0.9900 |
AlphaMissense
1736 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:9964185:C:G | A224P | 1.000 |
| 3:9970620:A:G | L179P | 1.000 |
| 3:9970623:C:T | G178E | 1.000 |
| 3:9970635:A:G | L174P | 1.000 |
| 3:9970635:A:T | L174H | 1.000 |
| 3:9970645:A:G | W171R | 1.000 |
| 3:9970645:A:T | W171R | 1.000 |
| 3:9973675:C:A | K149N | 1.000 |
| 3:9973675:C:G | K149N | 1.000 |
| 3:9973678:A:C | F148L | 1.000 |
| 3:9973678:A:T | F148L | 1.000 |
| 3:9973679:A:G | F148S | 1.000 |
| 3:9973680:A:G | F148L | 1.000 |
| 3:9973696:A:C | F142L | 1.000 |
| 3:9973696:A:T | F142L | 1.000 |
| 3:9973698:A:G | F142L | 1.000 |
| 3:9974389:A:T | V136D | 1.000 |
| 3:9974391:A:C | F135L | 1.000 |
| 3:9974391:A:T | F135L | 1.000 |
| 3:9974393:A:G | F135L | 1.000 |
| 3:9974417:A:G | W127R | 1.000 |
| 3:9974417:A:T | W127R | 1.000 |
| 3:9974422:C:T | G125D | 1.000 |
| 3:9977428:G:C | S58R | 1.000 |
| 3:9977428:G:T | S58R | 1.000 |
| 3:9977430:T:G | S58R | 1.000 |
| 3:9970620:A:T | L179H | 0.999 |
| 3:9970624:C:G | G178R | 0.999 |
| 3:9970624:C:T | G178R | 0.999 |
| 3:9970625:A:C | F177L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000041788 (3:9963006 C>A), RS1000078926 (3:9980878 G>C), RS1000202791 (3:9975504 G>C), RS1000235520 (3:9980449 T>C), RS1000289192 (3:10007052 T>C), RS1000305352 (3:9982364 C>T), RS1000374148 (3:9986414 C>A,T), RS1000466282 (3:9974321 T>C,G), RS1000573300 (3:9979101 C>T), RS1000626481 (3:9982185 C>A,G,T), RS1000678041 (3:10004105 G>T), RS1000765082 (3:9990789 A>G), RS1000783703 (3:10004676 T>A), RS1000970499 (3:9976511 C>T), RS1000971877 (3:9962624 G>A)
Disease associations
OMIM: gene MIM:620273 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067207 (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 |
|---|---|---|---|---|
| 8.00 | Kd | 10.02 | nM | CHEMBL5653589 |
| 8.00 | ED50 | 10.02 | 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 | 2148318: Binding affinity to human EMC3 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0100 | uM |
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Nickel | decreases expression | 2 |
| Valproic Acid | increases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| zinc chromate | increases expression, increases abundance | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Hydrogen Peroxide | increases expression, affects cotreatment | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Theophylline | affects cotreatment, increases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Sodium Selenite | decreases expression | 1 |
| Copper Sulfate | increases 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 |
|---|---|---|---|
| CHEMBL5651360 | Binding | Binding affinity to human EMC3 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 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.