ERGIC2
gene geneOn this page
Also known as PTX1Erv41
Summary
ERGIC2 (ERGIC and golgi 2, HGNC:30208) is a protein-coding gene on chromosome 12p11.22, encoding Endoplasmic reticulum-Golgi intermediate compartment protein 2 (Q96RQ1). Possible role in transport between endoplasmic reticulum and Golgi.
ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).
Source: NCBI Gene 51290 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 69 total — 1 pathogenic
- MANE Select transcript:
NM_016570
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30208 |
| Approved symbol | ERGIC2 |
| Name | ERGIC and golgi 2 |
| Location | 12p11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PTX1, Erv41 |
| Ensembl gene | ENSG00000087502 |
| Ensembl biotype | protein_coding |
| OMIM | 612236 |
| Entrez | 51290 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 20 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000360150, ENST00000546509, ENST00000546839, ENST00000548098, ENST00000548441, ENST00000548909, ENST00000549182, ENST00000550353, ENST00000551467, ENST00000552132, ENST00000552155, ENST00000869902, ENST00000869903, ENST00000869904, ENST00000869905, ENST00000869906, ENST00000869907, ENST00000869908, ENST00000869909, ENST00000869910, ENST00000869911, ENST00000966762, ENST00000966763
RefSeq mRNA: 1 — MANE Select: NM_016570
NM_016570
CCDS: CCDS41765
Canonical transcript exons
ENST00000360150 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000557344 | 29350013 | 29350068 |
| ENSE00000557345 | 29349079 | 29349177 |
| ENSE00000734382 | 29361645 | 29361685 |
| ENSE00000734384 | 29366877 | 29366947 |
| ENSE00000734385 | 29368241 | 29368287 |
| ENSE00000835977 | 29343120 | 29343282 |
| ENSE00001273303 | 29345443 | 29345540 |
| ENSE00001273326 | 29357623 | 29357724 |
| ENSE00001342532 | 29371528 | 29371670 |
| ENSE00002377131 | 29381115 | 29381172 |
| ENSE00002426265 | 29337352 | 29341218 |
| ENSE00003632947 | 29341734 | 29341816 |
| ENSE00003785317 | 29370114 | 29370222 |
| ENSE00003789004 | 29356382 | 29356477 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 97.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.9618 / max 842.0722, expressed in 1794 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 130308 | 34.0789 | 1794 |
| 130309 | 0.8829 | 573 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 97.53 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.12 | gold quality |
| colonic epithelium | UBERON:0000397 | 96.57 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.54 | gold quality |
| islet of Langerhans | UBERON:0000006 | 96.42 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 96.24 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.08 | gold quality |
| gingival epithelium | UBERON:0001949 | 96.08 | gold quality |
| superficial temporal artery | UBERON:0001614 | 96.07 | gold quality |
| oocyte | CL:0000023 | 95.99 | gold quality |
| ventricular zone | UBERON:0003053 | 95.71 | gold quality |
| tonsil | UBERON:0002372 | 95.48 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 95.48 | gold quality |
| decidua | UBERON:0002450 | 95.39 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 95.18 | gold quality |
| tibia | UBERON:0000979 | 95.07 | gold quality |
| cauda epididymis | UBERON:0004360 | 94.96 | gold quality |
| superior surface of tongue | UBERON:0007371 | 94.95 | gold quality |
| corpus epididymis | UBERON:0004359 | 94.89 | gold quality |
| corpus callosum | UBERON:0002336 | 94.83 | gold quality |
| rectum | UBERON:0001052 | 94.77 | gold quality |
| mammary duct | UBERON:0001765 | 94.62 | gold quality |
| gall bladder | UBERON:0002110 | 94.56 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.49 | gold quality |
| endometrium | UBERON:0001295 | 94.45 | gold quality |
| body of pancreas | UBERON:0001150 | 94.38 | gold quality |
| secondary oocyte | CL:0000655 | 94.29 | gold quality |
| seminal vesicle | UBERON:0000998 | 94.19 | gold quality |
| amniotic fluid | UBERON:0000173 | 94.18 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 94.18 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 21.22 |
| E-GEOD-81383 | no | 616.89 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
58 targeting ERGIC2, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-3617-3P | 99.98 | 67.86 | 918 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| 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-548BB-3P | 99.86 | 70.58 | 4354 |
Literature-anchored findings (GeneRIF, showing 5)
- may play an important role in the growth and tumorigenicity of PC-3 prostate tumor cells (PMID:12932305)
- ERGIC-32 functions as a modulator of the hErv41-hErv46 complex by stabilizing hErv46 (PMID:15308636)
- Ectopic expression of a partial sequence of PTX1 (Met84 - Leu225) as a VP22-fusion protein in prostate cancer cell line, PC-3, induced cellular senescence. (PMID:16989575)
- CDA14 participated in the elongation factor 1alpha regulated mechanisms (PMID:17980171)
- A variant of ERGIC2 with four coding bases deleted has an abrogated function as a transport shuttle, but does continue to upregulate the heme oxygenase 1 gene, suggesting that it may be involved in the oxidative stress pathway. (PMID:24303950)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ERGIC2 | ENSDARG00000020224 |
| danio_rerio | ergic2 | ENSDARG00000051936 |
| mus_musculus | Ergic2 | ENSMUSG00000030304 |
| rattus_norvegicus | Ergic2 | ENSRNOG00000001852 |
| drosophila_melanogaster | CG4293 | FBGN0024983 |
| caenorhabditis_elegans | WBGENE00007668 |
Paralogs (2): ERGIC1 (ENSG00000113719), ERGIC3 (ENSG00000125991)
Protein
Protein identifiers
Endoplasmic reticulum-Golgi intermediate compartment protein 2 — Q96RQ1 (reviewed: Q96RQ1)
All UniProt accessions (10): Q96RQ1, F8VPA6, F8VR88, F8VRW9, F8VUZ2, F8W0R1, H0YHJ8, H0YHS0, H0YI50, H0YI58
UniProt curated annotations — full annotation on UniProt →
Function. Possible role in transport between endoplasmic reticulum and Golgi.
Subunit / interactions. May form a heteromeric complex composed of ERGIC1, ERGIC2 and ERGIC3. Interacts with ERGIC3, the interaction is required for the stable expression of both proteins. May interact with EEF1A1.
Subcellular location. Endoplasmic reticulum-Golgi intermediate compartment membrane. Golgi apparatus. cis-Golgi network membrane. Endoplasmic reticulum membrane. Cytoplasm. Nucleus.
Tissue specificity. Ubiquitously expressed.
Similarity. Belongs to the ERGIC family.
RefSeq proteins (1): NP_057654* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR012936 | Erv_C | Domain |
| IPR039542 | Erv_N | Domain |
| IPR045888 | Erv | Family |
Pfam: PF07970, PF13850
UniProt features (9 total): topological domain 3, sequence conflict 3, transmembrane region 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96RQ1-F1 | 81.21 | 0.39 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 163 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, TAATAAT_MIR126, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_VESICLE_MEDIATED_TRANSPORT, chr12p11, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_ENDOPLASMIC_RETICULUM_TO_GOLGI_VESICLE_MEDIATED_TRANSPORT, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOCC_COATED_VESICLE, CUI_TCF21_TARGETS_2_DN, ACEVEDO_LIVER_CANCER_UP, NUYTTEN_EZH2_TARGETS_DN, GOCC_TRANSPORTER_COMPLEX, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK
GO Biological Process (3): endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum (GO:0006890), vesicle-mediated transport (GO:0016192)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (12): nucleus (GO:0005634), nucleolus (GO:0005730), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), membrane (GO:0016020), COPII-coated ER to Golgi transport vesicle (GO:0030134), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), retrograde cargo receptor complex, Golgi to ER (GO:0061852), transporter complex (GO:1990351), Golgi membrane (GO:0000139)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| intracellular membrane-bounded organelle | 3 |
| Golgi vesicle transport | 2 |
| cellular anatomical structure | 2 |
| endomembrane system | 2 |
| bounding membrane of organelle | 2 |
| intercellular transport | 1 |
| intracellular transport | 1 |
| transport | 1 |
| cellular process | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
| coated vesicle | 1 |
| endoplasmic reticulum-Golgi intermediate compartment | 1 |
| cargo receptor complex | 1 |
| protein-containing complex | 1 |
| Golgi apparatus | 1 |
Protein interactions and networks
STRING
2180 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ERGIC2 | ERGIC3 | Q9Y282 | 941 |
| ERGIC2 | UBN1 | Q9NPG3 | 846 |
| ERGIC2 | RNF215 | Q9Y6U7 | 595 |
| ERGIC2 | TMPRSS12 | Q86WS5 | 571 |
| ERGIC2 | RER1 | O15258 | 544 |
| ERGIC2 | CCDC61 | Q9Y6R9 | 531 |
| ERGIC2 | BET1 | O15155 | 527 |
| ERGIC2 | SURF4 | O15260 | 506 |
| ERGIC2 | LMAN1 | P49257 | 480 |
| ERGIC2 | ZNF10 | P21506 | 473 |
| ERGIC2 | SEC13 | P55735 | 470 |
| ERGIC2 | STX5 | Q13190 | 461 |
| ERGIC2 | RAB8B | Q92930 | 448 |
| ERGIC2 | ZNF382 | Q96SR6 | 442 |
| ERGIC2 | KDELR1 | P24390 | 420 |
IntAct
116 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SIL1 | HSPA5 | psi-mi:“MI:0914”(association) | 0.740 |
| COPG1 | COPB2 | psi-mi:“MI:0914”(association) | 0.730 |
| PPP2R5A | PPP2R1B | psi-mi:“MI:0914”(association) | 0.670 |
| COPG1 | COPE | psi-mi:“MI:0914”(association) | 0.640 |
| HSD17B2 | ERGIC2 | psi-mi:“MI:0915”(physical association) | 0.640 |
| ZFPL1 | PPP2R5E | psi-mi:“MI:0914”(association) | 0.640 |
| ERGIC2 | ERGIC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERGIC3 | ERGIC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ERGIC2 | psi-mi:“MI:0915”(physical association) | 0.550 | |
| LPAR1 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| SPPL2B | UQCRQ | psi-mi:“MI:0914”(association) | 0.530 |
| ENPP7 | TUBB3 | psi-mi:“MI:0914”(association) | 0.530 |
| TM2D2 | TMEM97 | psi-mi:“MI:0914”(association) | 0.530 |
| YIPF3 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| PPP2R5A | AXIN1 | psi-mi:“MI:0914”(association) | 0.530 |
| CHRND | TPST2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC22A15 | ZFPL1 | psi-mi:“MI:0914”(association) | 0.530 |
| VAMP5 | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| DLK1 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.530 |
| CRHBP | TNIP1 | psi-mi:“MI:0914”(association) | 0.530 |
| GHITM | MFN2 | psi-mi:“MI:0914”(association) | 0.530 |
| env | PGRMC1 | psi-mi:“MI:0914”(association) | 0.460 |
| ERGIC2 | MAGT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| YIPF3 | TMEM223 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (289): ERGIC2 (Affinity Capture-MS), ERGIC2 (Affinity Capture-MS), ERGIC2 (Affinity Capture-MS), ERGIC2 (Affinity Capture-MS), ERGIC2 (Affinity Capture-MS), ERGIC2 (Affinity Capture-MS), ERGIC2 (Proximity Label-MS), ERGIC2 (Affinity Capture-MS), ERGIC2 (Affinity Capture-MS), ERGIC2 (Affinity Capture-MS), ERGIC2 (Affinity Capture-MS), ERGIC2 (Affinity Capture-MS), ERGIC2 (Affinity Capture-MS), ERGIC2 (Affinity Capture-MS), ERGIC2 (Affinity Capture-MS)
ESM2 similar proteins: A5A6J8, A5D7U4, O18824, O35114, O35409, P05026, P05027, P05028, P06583, P07340, P08251, P13638, P14094, P14231, P14415, P16671, P26201, P27615, P51168, P58421, P70110, P70627, P97943, Q07969, Q08857, Q14108, Q28030, Q2HZ96, Q4R4V5, Q4R5C3, Q5F362, Q5J583, Q5R8S8, Q60417, Q61009, Q6P9A2, Q708S3, Q708S7, Q7T2D4, Q8L8W0
Diamond homologs: P39727, Q09895, Q4R5C3, Q4R8X1, Q54DW2, Q5EAE0, Q5R8G3, Q66KH2, Q6NS19, Q6NVS2, Q7T2D4, Q803I2, Q96RQ1, Q9CQE7, Q9CR89, Q9Y282, O94283
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 161 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 |
|---|---|---|---|
| Lysosphingolipid and LPA receptors | 5 | 33.7× | 9e-06 |
| Signaling by GSK3beta mutants | 5 | 33.7× | 9e-06 |
| CTNNB1 S33 mutants aren’t phosphorylated | 5 | 33.7× | 9e-06 |
| CTNNB1 S37 mutants aren’t phosphorylated | 5 | 33.7× | 9e-06 |
| CTNNB1 S45 mutants aren’t phosphorylated | 5 | 33.7× | 9e-06 |
| CTNNB1 T41 mutants aren’t phosphorylated | 5 | 33.7× | 9e-06 |
| Beta-catenin phosphorylation cascade | 5 | 29.7× | 2e-05 |
| Signaling by WNT in cancer | 5 | 26.6× | 3e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
69 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 47 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4796686 | NM_016570.3(ERGIC2):c.572+5G>A | Pathogenic |
SpliceAI
1886 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:29345441:AC:A | donor_gain | 1.0000 |
| 12:29345442:CC:C | donor_gain | 1.0000 |
| 12:29349070:AATAC:A | donor_loss | 1.0000 |
| 12:29349071:ATAC:A | donor_loss | 1.0000 |
| 12:29349072:TACTT:T | donor_loss | 1.0000 |
| 12:29349073:AC:A | donor_loss | 1.0000 |
| 12:29349074:C:A | donor_loss | 1.0000 |
| 12:29349075:T:TG | donor_loss | 1.0000 |
| 12:29349076:TA:T | donor_loss | 1.0000 |
| 12:29349077:A:AC | donor_gain | 1.0000 |
| 12:29349077:A:AG | donor_loss | 1.0000 |
| 12:29349077:ACGAT:A | donor_gain | 1.0000 |
| 12:29349078:C:CT | donor_gain | 1.0000 |
| 12:29349078:C:T | donor_loss | 1.0000 |
| 12:29349078:CG:C | donor_gain | 1.0000 |
| 12:29349078:CGA:C | donor_gain | 1.0000 |
| 12:29349078:CGAT:C | donor_gain | 1.0000 |
| 12:29349078:CGATC:C | donor_gain | 1.0000 |
| 12:29349174:TAAG:T | acceptor_gain | 1.0000 |
| 12:29349178:C:CC | acceptor_gain | 1.0000 |
| 12:29350008:CTTA:C | donor_loss | 1.0000 |
| 12:29350009:TTA:T | donor_loss | 1.0000 |
| 12:29350010:TA:T | donor_loss | 1.0000 |
| 12:29350011:A:AC | donor_gain | 1.0000 |
| 12:29350011:ACA:A | donor_loss | 1.0000 |
| 12:29350011:ACATT:A | donor_gain | 1.0000 |
| 12:29350012:C:CT | donor_gain | 1.0000 |
| 12:29350012:CA:C | donor_gain | 1.0000 |
| 12:29350012:CAT:C | donor_gain | 1.0000 |
| 12:29350012:CATT:C | donor_gain | 1.0000 |
AlphaMissense
2500 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:29343236:A:T | I291K | 1.000 |
| 12:29343239:C:T | G290E | 1.000 |
| 12:29343240:C:A | G290W | 1.000 |
| 12:29356398:G:C | H186D | 1.000 |
| 12:29368258:A:T | V82D | 1.000 |
| 12:29343197:A:T | V304D | 0.999 |
| 12:29343232:A:C | F292L | 0.999 |
| 12:29343232:A:T | F292L | 0.999 |
| 12:29343234:A:G | F292L | 0.999 |
| 12:29343236:A:C | I291R | 0.999 |
| 12:29343240:C:G | G290R | 0.999 |
| 12:29343240:C:T | G290R | 0.999 |
| 12:29343278:C:G | R277P | 0.999 |
| 12:29349145:A:G | S221P | 0.999 |
| 12:29349163:G:C | H215D | 0.999 |
| 12:29350038:A:C | H201Q | 0.999 |
| 12:29350038:A:T | H201Q | 0.999 |
| 12:29350040:G:C | H201D | 0.999 |
| 12:29356385:C:A | G190V | 0.999 |
| 12:29356385:C:T | G190D | 0.999 |
| 12:29356386:C:G | G190R | 0.999 |
| 12:29356394:A:C | I187R | 0.999 |
| 12:29356394:A:T | I187K | 0.999 |
| 12:29356396:G:C | H186Q | 0.999 |
| 12:29356396:G:T | H186Q | 0.999 |
| 12:29356402:A:C | N184K | 0.999 |
| 12:29356402:A:T | N184K | 0.999 |
| 12:29356406:C:T | G183E | 0.999 |
| 12:29356407:C:A | G183W | 0.999 |
| 12:29356414:T:A | K180N | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000037745 (12:29341653 G>A), RS1000145425 (12:29356730 G>A), RS1000202987 (12:29374121 T>C), RS1000212584 (12:29379649 T>C), RS1000244337 (12:29361304 T>C), RS1000331513 (12:29375708 A>C,G), RS1000429801 (12:29342110 C>G), RS1000507718 (12:29348776 GCA>G), RS1000522114 (12:29347426 T>C), RS1000649452 (12:29341544 C>T), RS1000706250 (12:29355161 A>G), RS1000787998 (12:29380770 G>C), RS1000807551 (12:29362332 T>C), RS1000837848 (12:29368592 C>T), RS1000963276 (12:29355732 T>C)
Disease associations
OMIM: gene MIM:612236 | disease phenotypes: MIM:607812
GenCC curated gene-disease
Mondo (1): craniolenticulosutural dysplasia (MONDO:0011911)
Orphanet (1): Craniolenticulosutural dysplasia (Orphanet:50814)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006103_5 | Interleukin-6 levels | 3.000000e-06 |
| GCST006661_121 | Male-pattern baldness | 5.000000e-16 |
| GCST009391_1784 | Metabolite levels | 9.000000e-07 |
| GCST90000025_1032 | Appendicular lean mass | 2.000000e-16 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004810 | interleukin-6 measurement |
| EFO:0004468 | glucose measurement |
| EFO:0010477 | fructose measurement |
| EFO:0010481 | galactose measurement |
| EFO:0004980 | appendicular lean mass |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C564332 | Craniolenticulosutural Dysplasia (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, decreases methylation | 3 |
| Cyclosporine | increases expression | 3 |
| sodium arsenite | increases abundance, increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol F | affects cotreatment, decreases methylation | 1 |
| dicrotophos | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Manganese | decreases expression | 1 |
| Quercetin | decreases expression | 1 |
| Dihydrotestosterone | increases expression | 1 |
| Tetrachlorodibenzodioxin | decreases expression | 1 |
| Thimerosal | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1RG | Abcam HeLa ERGIC2 KO | Cancer cell line | Female |
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): craniolenticulosutural dysplasia