EMC2
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Summary
EMC2 (ER membrane protein complex subunit 2, HGNC:28963) is a protein-coding gene on chromosome 8q23.1, encoding ER membrane protein complex subunit 2 (Q15006). 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: 20.0% 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. Is extrinsic component of endoplasmic reticulum membrane. Part of EMC complex.
Source: NCBI Gene 9694 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 47 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 20.0% of screened cell lines
- MANE Select transcript:
NM_014673
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28963 |
| Approved symbol | EMC2 |
| Name | ER membrane protein complex subunit 2 |
| Location | 8q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000104412 |
| Ensembl biotype | protein_coding |
| OMIM | 607722 |
| Entrez | 9694 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 6 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000220853, ENST00000517593, ENST00000517784, ENST00000519450, ENST00000519642, ENST00000520294, ENST00000524143, ENST00000890427, ENST00000890428, ENST00000890429
RefSeq mRNA: 4 — MANE Select: NM_014673
NM_001329493, NM_001329494, NM_001329495, NM_014673
CCDS: CCDS6309
Canonical transcript exons
ENST00000220853 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001130722 | 108443624 | 108443698 |
| ENSE00002097848 | 108486512 | 108489196 |
| ENSE00003489653 | 108450428 | 108450492 |
| ENSE00003509694 | 108470062 | 108470121 |
| ENSE00003523467 | 108455873 | 108455930 |
| ENSE00003535617 | 108469826 | 108469911 |
| ENSE00003574064 | 108449823 | 108449936 |
| ENSE00003576346 | 108479006 | 108479110 |
| ENSE00003579331 | 108475882 | 108475963 |
| ENSE00003652475 | 108453062 | 108453147 |
| ENSE00003664948 | 108476782 | 108476892 |
Expression profiles
Bgee: expression breadth ubiquitous, 299 present calls, max score 98.41.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.9333 / max 2279.5144, expressed in 1799 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 90251 | 47.0040 | 1797 |
| 90250 | 0.9293 | 520 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 98.41 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 97.97 | gold quality |
| corpus callosum | UBERON:0002336 | 97.73 | gold quality |
| spinal cord | UBERON:0002240 | 97.45 | gold quality |
| sperm | CL:0000019 | 97.18 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 96.64 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.41 | gold quality |
| right coronary artery | UBERON:0001625 | 96.32 | gold quality |
| body of pancreas | UBERON:0001150 | 96.30 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.30 | gold quality |
| popliteal artery | UBERON:0002250 | 96.26 | gold quality |
| tibial artery | UBERON:0007610 | 96.26 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.15 | gold quality |
| aorta | UBERON:0000947 | 96.10 | gold quality |
| artery | UBERON:0001637 | 96.07 | gold quality |
| rectum | UBERON:0001052 | 96.01 | gold quality |
| cranial nerve II | UBERON:0000941 | 95.97 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.97 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.97 | gold quality |
| ascending aorta | UBERON:0001496 | 95.96 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 95.96 | gold quality |
| left coronary artery | UBERON:0001626 | 95.95 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 95.93 | gold quality |
| gall bladder | UBERON:0002110 | 95.82 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.82 | gold quality |
| lower esophagus | UBERON:0013473 | 95.79 | gold quality |
| colonic epithelium | UBERON:0000397 | 95.70 | gold quality |
| right lung | UBERON:0002167 | 95.63 | gold quality |
| putamen | UBERON:0001874 | 95.60 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.58 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting EMC2, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-12132 | 99.47 | 68.90 | 1341 |
| HSA-MIR-4666A-5P | 99.41 | 69.72 | 1887 |
| HSA-MIR-20B-3P | 99.29 | 67.05 | 784 |
| HSA-MIR-1264 | 99.25 | 66.81 | 1317 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-143-5P | 98.98 | 68.87 | 946 |
| HSA-MIR-4709-3P | 98.88 | 68.04 | 1594 |
| HSA-MIR-513B-3P | 98.76 | 68.12 | 1577 |
| HSA-MIR-1183 | 98.75 | 67.10 | 1116 |
| HSA-MIR-3689A-5P | 98.35 | 70.12 | 1049 |
| HSA-MIR-3689B-5P | 98.35 | 70.12 | 1049 |
| HSA-MIR-3689E | 98.35 | 70.12 | 1049 |
| HSA-MIR-3689F | 98.35 | 70.08 | 1052 |
| HSA-MIR-1972 | 97.67 | 67.38 | 1172 |
| HSA-MIR-4286 | 97.20 | 64.37 | 1587 |
| HSA-MIR-873-3P | 96.84 | 66.09 | 786 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 20.0% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- We then examined the oncogenic effects of the RSPO2-EMC2 fusion gene and confirmed that it can drive oncogenesis, sustain tumor growth and promote metastasis. (PMID:30250044)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | emc2 | ENSDARG00000003308 |
| mus_musculus | Emc2 | ENSMUSG00000022337 |
| rattus_norvegicus | Emc2 | ENSRNOG00000005123 |
| drosophila_melanogaster | EMC2B | FBGN0038461 |
| drosophila_melanogaster | EMC2A | FBGN0038462 |
| caenorhabditis_elegans | WBGENE00021973 |
Protein
Protein identifiers
ER membrane protein complex subunit 2 — Q15006 (reviewed: Q15006)
Alternative names: Tetratricopeptide repeat protein 35
All UniProt accessions (3): Q15006, E5RGJ2, H0YAS9
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). Interacts with WNK1 (via amphipathic alpha-helix region); promoting the ER membrane protein complex assembly by preventing EMC2 ubiquitination.
Subcellular location. Endoplasmic reticulum membrane.
Post-translational modifications. Ubiquitinated when soluble in the cytoplasm, leading to its degradation by the proteasome. Interaction with EMC2 prevents its ubiquitination and degradation.
Similarity. Belongs to the EMC2 family.
RefSeq proteins (4): NP_001316422, NP_001316423, NP_001316424, NP_055488* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
| IPR039856 | EMC2-like | Family |
| IPR055217 | TPR_EMC2 | Domain |
Pfam: PF22890
UniProt features (41 total): helix 18, mutagenesis site 13, repeat 3, strand 2, modified residue 2, initiator methionine 1, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
11 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6Y4L | X-RAY DIFFRACTION | 2.2 |
| 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-Q15006-F1 | 94.40 | 0.85 |
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): 2, 255
Mutagenesis-validated functional residues (13):
| Position | Phenotype |
|---|---|
| 122 | no effect on transmembrane domain binding of tail-anchored proteins; when associated with k-61 and k-95. |
| 156 | loss of interaction with emc5. |
| 160 | loss of interaction with emc5. |
| 171 | decreased interaction with emc5 and emc8. |
| 180 | decreased interaction with emc3. |
| 189–191 | decreased transmembrane domain binding of tail-anchored proteins. |
| 193–194 | no effect on transmembrane domain binding of tail-anchored proteins. |
| 200 | decreased interaction with emc5 and emc8. |
| 227 | loss of interaction with emc5 and emc8. |
| 259 | decreased interaction with emc3. |
| 28 | loss of interaction with emc5. |
| 61 | no effect on transmembrane domain binding of tail-anchored proteins; when associated with k-95 and e-122. |
| 95 | no effect on transmembrane domain binding of tail-anchored proteins; when associated with k-61 and e-122. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 157 (showing top):
STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, ONKEN_UVEAL_MELANOMA_UP, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, INGRAM_SHH_TARGETS_DN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_MEMBRANE_ORGANIZATION, GOBP_ENDOPLASMIC_RETICULUM_ORGANIZATION, BURTON_ADIPOGENESIS_12, GOBP_LOCALIZATION_WITHIN_MEMBRANE, GOBP_PROTEIN_INSERTION_INTO_MEMBRANE, BRACHAT_RESPONSE_TO_CAMPTOTHECIN_DN, GOCC_EXTRINSIC_COMPONENT_OF_ORGANELLE_MEMBRANE
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 (6): cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), extrinsic component of endoplasmic reticulum membrane (GO:0042406), EMC complex (GO:0072546), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein insertion into ER membrane | 2 |
| cellular anatomical structure | 2 |
| endoplasmic reticulum membrane | 2 |
| binding | 1 |
| establishment of protein localization to membrane | 1 |
| protein carrier activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| extrinsic component of organelle membrane | 1 |
| membrane protein complex | 1 |
| endoplasmic reticulum protein-containing complex | 1 |
Protein interactions and networks
STRING
1430 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EMC2 | EMC6 | Q9BV81 | 932 |
| EMC2 | EMC1 | Q8N766 | 926 |
| EMC2 | EMC4 | Q5J8M3 | 920 |
| EMC2 | EMC3 | Q9P0I2 | 895 |
| EMC2 | MMGT1 | Q8N4V1 | 873 |
| EMC2 | EMC8 | O43402 | 771 |
| EMC2 | DERL2 | Q9GZP9 | 760 |
| EMC2 | EMC9 | Q9Y3B6 | 742 |
| EMC2 | EMC10 | Q5UCC4 | 710 |
| EMC2 | EMC7 | Q9NPA0 | 710 |
| EMC2 | ATP5MC3 | P48201 | 622 |
| EMC2 | RPL8 | P25120 | 621 |
| EMC2 | ACSF2 | Q96CM8 | 621 |
| EMC2 | UBAC2 | Q8NBM4 | 618 |
| EMC2 | CISD1 | Q9NZ45 | 546 |
IntAct
187 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| EMC9 | EMC2 | psi-mi:“MI:0915”(physical association) | 0.940 |
| EMC2 | EMC9 | psi-mi:“MI:0915”(physical association) | 0.940 |
| EMC2 | EMC8 | psi-mi:“MI:0915”(physical association) | 0.940 |
| EMC2 | EMC8 | psi-mi:“MI:0914”(association) | 0.940 |
| EMC8 | EMC2 | psi-mi:“MI:0915”(physical association) | 0.940 |
| EMC8 | EMC2 | psi-mi:“MI:0914”(association) | 0.940 |
| EMC3 | EMC2 | psi-mi:“MI:0915”(physical association) | 0.860 |
| MMGT1 | 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 |
BioGRID (596): EMC8 (Two-hybrid), IKZF3 (Two-hybrid), EMC9 (Two-hybrid), CCDC33 (Two-hybrid), EMC2 (Affinity Capture-MS), EMC2 (Affinity Capture-MS), EMC2 (Affinity Capture-MS), EMC2 (Affinity Capture-MS), EMC2 (Affinity Capture-MS), EMC2 (Affinity Capture-MS), EMC2 (Affinity Capture-MS), EMC3 (Affinity Capture-MS), EMC10 (Affinity Capture-MS), EMC6 (Affinity Capture-MS), MMGT1 (Affinity Capture-MS)
ESM2 similar proteins: A0MT11, A1Z3X3, A2VD00, A4GWN3, A4II09, A4QNE0, A4VCH4, B5KFI0, O35841, P23116, P49754, Q09161, Q0P5I8, Q14152, Q15006, Q15386, Q1JU68, Q3B8M3, Q5E993, Q5E9L7, Q5KU39, Q5R4J9, Q5R644, Q5R882, Q5RE70, Q5XI83, Q5ZJZ6, Q5ZKG8, Q5ZMW3, Q68E01, Q6GLK9, Q6N069, Q6NRL4, Q6PCR7, Q6TGY8, Q6WKZ8, Q7L5D6, Q7TPD0, Q80UM3, Q8BHL5
Diamond homologs: B0BNG0, O60110, Q15006, Q5E993, Q5M7J9, Q5R882, Q6INS3, Q6TGY8, Q8AVU9, Q9CRD2, Q86K48
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EMC2 | “form complex” | “Endoplasmic reticulum membrane complex- EMC9 variant” | binding |
| EMC2 | “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 157 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 |
|---|---|---|---|
| PD-L1(CD274) glycosylation and translocation to plasma membrane | 5 | 26.8× | 2e-04 |
| Regulation of CDH1 posttranslational processing and trafficking to plasma membrane | 5 | 17.3× | 1e-03 |
| Maturation of spike protein | 6 | 16.4× | 2e-04 |
| Maturation of DENV proteins | 7 | 15.3× | 1e-04 |
| Defective CFTR causes cystic fibrosis | 5 | 11.3× | 7e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| tail-anchored membrane protein insertion into ER membrane | 9 | 64.3× | 2e-12 |
| ERAD pathway | 11 | 15.2× | 5e-08 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 24 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2113 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:108449817:TTTCA:T | acceptor_loss | 1.0000 |
| 8:108449818:TTCAG:T | acceptor_loss | 1.0000 |
| 8:108449819:TCAGA:T | acceptor_loss | 1.0000 |
| 8:108449820:CAG:C | acceptor_loss | 1.0000 |
| 8:108449821:A:AG | acceptor_gain | 1.0000 |
| 8:108449821:AG:A | acceptor_loss | 1.0000 |
| 8:108449822:G:GT | acceptor_gain | 1.0000 |
| 8:108449822:GA:G | acceptor_gain | 1.0000 |
| 8:108449822:GAA:G | acceptor_gain | 1.0000 |
| 8:108449822:GAAA:G | acceptor_gain | 1.0000 |
| 8:108449822:GAAAT:G | acceptor_gain | 1.0000 |
| 8:108449885:G:GT | donor_gain | 1.0000 |
| 8:108449932:TGATA:T | donor_gain | 1.0000 |
| 8:108449933:GATA:G | donor_gain | 1.0000 |
| 8:108449933:GATAG:G | donor_gain | 1.0000 |
| 8:108449934:ATA:A | donor_gain | 1.0000 |
| 8:108449935:TA:T | donor_gain | 1.0000 |
| 8:108449936:AGTAA:A | donor_loss | 1.0000 |
| 8:108449937:G:GG | donor_gain | 1.0000 |
| 8:108449937:G:T | donor_loss | 1.0000 |
| 8:108450416:A:AG | acceptor_gain | 1.0000 |
| 8:108450416:AT:A | acceptor_gain | 1.0000 |
| 8:108450416:ATGT:A | acceptor_gain | 1.0000 |
| 8:108450417:T:G | acceptor_gain | 1.0000 |
| 8:108450426:A:AG | acceptor_gain | 1.0000 |
| 8:108450426:AGTTT:A | acceptor_gain | 1.0000 |
| 8:108450427:G:GA | acceptor_gain | 1.0000 |
| 8:108450427:GT:G | acceptor_gain | 1.0000 |
| 8:108450427:GTT:G | acceptor_gain | 1.0000 |
| 8:108450427:GTTT:G | acceptor_gain | 1.0000 |
AlphaMissense
1974 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:108449892:G:A | G37E | 1.000 |
| 8:108450430:T:A | W53R | 1.000 |
| 8:108450430:T:C | W53R | 1.000 |
| 8:108450460:G:C | A63P | 1.000 |
| 8:108453078:T:C | L79P | 1.000 |
| 8:108453089:T:C | F83L | 1.000 |
| 8:108453091:C:A | F83L | 1.000 |
| 8:108453091:C:G | F83L | 1.000 |
| 8:108453106:A:C | R88S | 1.000 |
| 8:108453106:A:T | R88S | 1.000 |
| 8:108453122:G:C | G94R | 1.000 |
| 8:108453123:G:A | G94D | 1.000 |
| 8:108453137:G:C | A99P | 1.000 |
| 8:108469838:C:A | R126S | 1.000 |
| 8:108469839:G:C | R126P | 1.000 |
| 8:108469893:T:C | L144P | 1.000 |
| 8:108469905:T:C | L148P | 1.000 |
| 8:108470084:T:A | W158R | 1.000 |
| 8:108470084:T:C | W158R | 1.000 |
| 8:108470094:T:C | L161P | 1.000 |
| 8:108475892:G:C | A174P | 1.000 |
| 8:108475903:T:G | C177W | 1.000 |
| 8:108475914:T:C | L181P | 1.000 |
| 8:108475959:C:A | A196D | 1.000 |
| 8:108476882:G:A | G231E | 1.000 |
| 8:108449850:G:C | R23T | 0.999 |
| 8:108449850:G:T | R23I | 0.999 |
| 8:108449851:A:C | R23S | 0.999 |
| 8:108449851:A:T | R23S | 0.999 |
| 8:108449891:G:A | G37R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000123960 (8:108456043 TAAA>T,TAA,TAAAA), RS1000141446 (8:108477612 A>C,G), RS1000271665 (8:108472114 T>C), RS1000274174 (8:108471341 T>G), RS1000289146 (8:108449438 A>G), RS1000302681 (8:108472454 A>T), RS1000412524 (8:108464905 A>G,T), RS1000469442 (8:108460066 C>G), RS1000544160 (8:108460385 CT>C), RS1000583644 (8:108478805 C>G), RS1000684376 (8:108454182 T>G), RS1000709279 (8:108470976 T>C), RS1000805680 (8:108489334 C>T), RS1000836762 (8:108489035 A>G), RS1000873510 (8:108447929 T>A)
Disease associations
OMIM: gene MIM:607722 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002545_2 | Ossification of the posterior longitudinal ligament of the spine | 2.000000e-13 |
| GCST003983_17 | Male-pattern baldness | 4.000000e-13 |
| GCST006661_172 | Male-pattern baldness | 2.000000e-11 |
| GCST006661_282 | Male-pattern baldness | 5.000000e-27 |
| GCST010703_334 | Brain morphology (MOSTest) | 2.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066426 (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 |
|---|---|---|---|---|
| 6.48 | Kd | 331.1 | nM | CHEMBL5653589 |
| 6.48 | ED50 | 331.1 | 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 | 2148317: Binding affinity to human EMC2 incubated for 45 mins by Kinobead based pull down assay | kd | 0.3311 | uM |
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Vorinostat | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Tamoxifen | affects expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 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 |
|---|---|---|---|
| CHEMBL5651359 | Binding | Binding affinity to human EMC2 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
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1R3 | Abcam HeLa EMC2 KO | Cancer cell line | Female |
| CVCL_E1W0 | HAP1 EMC2 (-) | 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): androgenetic alopecia, ossification of the posterior longitudinal ligament of the spine