SERP1
gene geneOn this page
Also known as RAMP4FLJ43424
Summary
SERP1 (stress associated endoplasmic reticulum protein 1, HGNC:10759) is a protein-coding gene on chromosome 3q25.1, encoding Stress-associated endoplasmic reticulum protein 1 (Q9Y6X1). Interacts with target proteins during their translocation into the lumen of the endoplasmic reticulum.
Predicted to be involved in endoplasmic reticulum unfolded protein response. Predicted to act upstream of or within several processes, including positive regulation of organ growth; positive regulation of peptide hormone secretion; and positive regulation of translation. Located in cytoplasmic microtubule.
Source: NCBI Gene 27230 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 10 total
- MANE Select transcript:
NM_014445
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10759 |
| Approved symbol | SERP1 |
| Name | stress associated endoplasmic reticulum protein 1 |
| Location | 3q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RAMP4, FLJ43424 |
| Ensembl gene | ENSG00000120742 |
| Ensembl biotype | protein_coding |
| OMIM | 617674 |
| Entrez | 27230 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 5 protein_coding, 4 protein_coding_CDS_not_defined
ENST00000239944, ENST00000463647, ENST00000479209, ENST00000484608, ENST00000487153, ENST00000490945, ENST00000491195, ENST00000491660, ENST00000914303
RefSeq mRNA: 1 — MANE Select: NM_014445
NM_014445
CCDS: CCDS3150
Canonical transcript exons
ENST00000239944 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001233110 | 150546052 | 150546496 |
| ENSE00003891354 | 150541998 | 150544498 |
| ENSE00003895983 | 150545703 | 150545778 |
Expression profiles
Bgee: expression breadth ubiquitous, 303 present calls, max score 99.67.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 227.4358 / max 1399.4231, expressed in 1828 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 45102 | 104.5855 | 1823 |
| 45100 | 79.6799 | 1828 |
| 45101 | 19.4184 | 1796 |
| 45105 | 6.2322 | 1510 |
| 45096 | 5.3120 | 1329 |
| 45097 | 4.6083 | 1209 |
| 45099 | 4.5156 | 1352 |
| 202975 | 0.8460 | 553 |
| 45098 | 0.7943 | 311 |
| 45106 | 0.5616 | 342 |
Top tissues by expression
303 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 99.67 | gold quality |
| corpus epididymis | UBERON:0004359 | 99.28 | gold quality |
| body of pancreas | UBERON:0001150 | 99.20 | gold quality |
| caput epididymis | UBERON:0004358 | 98.96 | gold quality |
| bronchial epithelial cell | CL:0002328 | 98.73 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 98.66 | gold quality |
| bronchus | UBERON:0002185 | 98.65 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 98.62 | gold quality |
| amniotic fluid | UBERON:0000173 | 98.50 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 98.50 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 98.50 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.47 | gold quality |
| lower lobe of lung | UBERON:0008949 | 98.46 | gold quality |
| mononuclear cell | CL:0000842 | 98.45 | gold quality |
| monocyte | CL:0000576 | 98.43 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 98.42 | gold quality |
| leukocyte | CL:0000738 | 98.39 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 98.35 | gold quality |
| gingival epithelium | UBERON:0001949 | 98.28 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 98.28 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.26 | gold quality |
| nasopharynx | UBERON:0001728 | 98.26 | gold quality |
| sperm | CL:0000019 | 98.16 | gold quality |
| pylorus | UBERON:0001166 | 98.16 | gold quality |
| trachea | UBERON:0003126 | 98.13 | gold quality |
| decidua | UBERON:0002450 | 98.11 | gold quality |
| periodontal ligament | UBERON:0008266 | 98.08 | gold quality |
| colonic mucosa | UBERON:0000317 | 98.06 | gold quality |
| gingiva | UBERON:0001828 | 98.01 | gold quality |
| type B pancreatic cell | CL:0000169 | 97.94 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-1 | yes | 39.38 |
| E-HCAD-11 | yes | 20.45 |
| E-HCAD-9 | yes | 14.90 |
| E-HCAD-10 | yes | 14.16 |
| E-CURD-46 | yes | 10.93 |
| E-MTAB-10042 | yes | 7.85 |
| E-MTAB-8060 | no | 2773.32 |
| E-GEOD-125970 | no | 16.28 |
| E-HCAD-13 | no | 3.10 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): ATF6
miRNA regulators (miRDB)
151 targeting SERP1, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
Literature-anchored findings (GeneRIF, showing 9)
- SFRP1 DNA methylation, accumulates with age in normal-appearing kidney tissues and is associated with increased renal cancer risk. (PMID:22419128)
- SERP1 is a novel cochaperone and regulator of ENaC expression. (PMID:22526458)
- expression of SFRP1 mRNA and protein correlates with the Gleason score, survival rate and response for endocrine therapy of prostate cancer. (PMID:25719802)
- Study demonstrated that SERP1 expression level was significantly upregulated in human pancreatic ductal adenocarcinoma (PDAC) tissues which positively associated with advanced clinical stage and shorter survival time (OS and DFS). Downregulated SERP1 expression promoted PDAC cell apoptosis and inhibited NF-kappaB activation probably by upregulating SRPRB expression. (PMID:28902358)
- This study reveals the important role of SERP1/Ysy6 and Atg8 in endoplasmic reticulum stress response and virulence in Candida albicans. (PMID:29544880)
- SERP1 is an assembly regulator of gamma-secretase in metabolic stress conditions. (PMID:32184288)
- Let-7b-5p is involved in the response of endoplasmic reticulum stress in acute pulmonary embolism through upregulating the expression of stress-associated endoplasmic reticulum protein 1. (PMID:32534478)
- Low expression of endoplasmic reticulum stress-related gene SERP1 is associated with poor prognosis and immune infiltration in skin cutaneous melanoma. (PMID:34613934)
- CircWDR33 alleviates human pulmonary microvascular endothelial cell injury in sepsis-associated acute lung injury by targeting miR-217-5p/SERP1 axis. (PMID:36417821)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | SERP1 | ENSDARG00000076223 |
| danio_rerio | serp1 | ENSDARG00000099439 |
| mus_musculus | Serp1 | ENSMUSG00000027808 |
| rattus_norvegicus | Serp1 | ENSRNOG00000011763 |
| drosophila_melanogaster | CG32276 | FBGN0047135 |
| caenorhabditis_elegans | WBGENE00010337 | |
| caenorhabditis_elegans | WBGENE00020374 |
Paralogs (1): SERP2 (ENSG00000151778)
Protein
Protein identifiers
Stress-associated endoplasmic reticulum protein 1 — Q9Y6X1 (reviewed: Q9Y6X1)
Alternative names: Ribosome-attached membrane protein 4
All UniProt accessions (3): C9JSB0, C9JUH5, Q9Y6X1
UniProt curated annotations — full annotation on UniProt →
Function. Interacts with target proteins during their translocation into the lumen of the endoplasmic reticulum. Protects unfolded target proteins against degradation during ER stress. May facilitate glycosylation of target proteins after termination of ER stress. May modulate the use of N-glycosylation sites on target proteins.
Subunit / interactions. Interacts with SEC61B, SEC61A1 and the SEC61 complex. Interacts with CANX.
Subcellular location. Membrane. Endoplasmic reticulum membrane.
Similarity. Belongs to the RAMP4 family.
RefSeq proteins (1): NP_055260* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR010580 | ER_stress-assoc | Family |
Pfam: PF06624
UniProt features (4 total): chain 1, transmembrane region 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9N9J | ELECTRON MICROSCOPY | 3.2 |
| 9YGY | ELECTRON MICROSCOPY | 4.1 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y6X1-F1 | 77.19 | 0.24 |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-381038 | XBP1(S) activates chaperone genes |
| R-HSA-9609523 | Insertion of tail-anchored proteins into the endoplasmic reticulum membrane |
| R-HSA-2262752 | Cellular responses to stress |
| R-HSA-381070 | IRE1alpha activates chaperones |
| R-HSA-381119 | Unfolded Protein Response (UPR) |
| R-HSA-8953897 | Cellular responses to stimuli |
| R-HSA-9609507 | Protein localization |
MSigDB gene sets: 395 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, MORF_MTA1, AAGCAAT_MIR137, REACTOME_UNFOLDED_PROTEIN_RESPONSE_UPR, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, WANG_CLIM2_TARGETS_UP, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_INSULIN_SECRETION, GOBP_GROWTH, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_PLASMA_MEMBRANE_ORGANIZATION, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT
GO Biological Process (16): skeletal system development (GO:0001501), glucose metabolic process (GO:0006006), plasma membrane organization (GO:0007009), glycoprotein biosynthetic process (GO:0009101), post-embryonic development (GO:0009791), insulin secretion (GO:0030073), endoplasmic reticulum unfolded protein response (GO:0030968), positive regulation of insulin secretion (GO:0032024), protein modification process (GO:0036211), positive regulation of translation (GO:0045727), positive regulation of organ growth (GO:0046622), muscle organ morphogenesis (GO:0048644), positive regulation of growth hormone secretion (GO:0060124), obsolete protein glycosylation (GO:0006486), response to unfolded protein (GO:0006986), protein transport (GO:0015031)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), cytosol (GO:0005829), ribosome (GO:0005840), cytoplasmic microtubule (GO:0005881), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| IRE1alpha activates chaperones | 1 |
| Protein localization | 1 |
| Cellular responses to stimuli | 1 |
| Unfolded Protein Response (UPR) | 1 |
| Cellular responses to stress | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| positive regulation of peptide hormone secretion | 2 |
| cellular anatomical structure | 2 |
| system development | 1 |
| hexose metabolic process | 1 |
| endomembrane system organization | 1 |
| membrane organization | 1 |
| macromolecule biosynthetic process | 1 |
| glycoprotein metabolic process | 1 |
| carbohydrate derivative biosynthetic process | 1 |
| multicellular organism development | 1 |
| multicellular organismal process | 1 |
| protein secretion | 1 |
| peptide hormone secretion | 1 |
| cellular response to unfolded protein | 1 |
| response to endoplasmic reticulum stress | 1 |
| intracellular signal transduction | 1 |
| insulin secretion | 1 |
| positive regulation of protein secretion | 1 |
| regulation of insulin secretion | 1 |
| protein metabolic process | 1 |
| macromolecule modification | 1 |
| translation | 1 |
| regulation of translation | 1 |
| positive regulation of gene expression | 1 |
| positive regulation of protein metabolic process | 1 |
| organ growth | 1 |
| regulation of organ growth | 1 |
| positive regulation of developmental growth | 1 |
| positive regulation of multicellular organismal process | 1 |
| muscle organ development | 1 |
| animal organ morphogenesis | 1 |
| growth hormone secretion | 1 |
| regulation of growth hormone secretion | 1 |
| response to topologically incorrect protein | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| binding | 1 |
| endomembrane system | 1 |
Protein interactions and networks
STRING
778 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SERP1 | GET1 | O00258 | 528 |
| SERP1 | F10 | P00742 | 509 |
| SERP1 | SEC61A1 | P38378 | 507 |
| SERP1 | C1S | P09871 | 487 |
| SERP1 | GET3 | O43681 | 479 |
| SERP1 | EDEM1 | Q92611 | 478 |
| SERP1 | DNAJC3 | Q13217 | 478 |
| SERP1 | TMED2 | Q15363 | 474 |
| SERP1 | DNAJB9 | Q9UBS3 | 447 |
| SERP1 | SEC62 | Q99442 | 441 |
| SERP1 | CCDC134 | Q9H6E4 | 418 |
| SERP1 | DNAJB11 | Q9UBS4 | 418 |
| SERP1 | SSR3 | Q9UNL2 | 412 |
| SERP1 | GOLM2 | Q6P4E1 | 410 |
| SERP1 | SEC61B | P38390 | 397 |
IntAct
131 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KCNF1 | SERP1 | psi-mi:“MI:0915”(physical association) | 0.600 |
| SERP1 | TMEM79 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM79 | SERP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERP1 | FAM210B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERP1 | HSD17B13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERP1 | AQP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERP1 | LHFPL5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERP1 | TMEM14B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERP1 | ALG3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERP1 | CYBRD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERP1 | BSCL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERP1 | MTIF3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX4 | SERP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX1A | SERP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD74 | SERP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNFRSF9 | SERP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRMD3 | SERP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BIK | SERP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GKN1 | SERP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TMEM52B | SERP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (86): LOC100355886 (Affinity Capture-MS), BAG6 (Affinity Capture-Western), ASNA1 (Affinity Capture-Western), ASNA1 (Affinity Capture-MS), BAG6 (Affinity Capture-MS), DNAJB1 (Affinity Capture-MS), DNAJB1 (Affinity Capture-Western), HSPA4 (Affinity Capture-MS), HSPA4 (Affinity Capture-Western), HSPA8 (Affinity Capture-MS), HSPA8 (Affinity Capture-Western), SGTA (Affinity Capture-Western), TMEM79 (Two-hybrid), SERP1 (Two-hybrid), SERP1 (PCA)
ESM2 similar proteins: A0A0H2ZNG3, A0A242DI27, A3N0X3, A4ZUD5, A5UE01, A5UHM6, A9MHQ7, B0BPQ7, B3GXV7, C5DQ18, C5DT30, G2TRT3, O60071, P44844, P47301, P52871, P75090, P94520, P96728, Q07541, Q08JR8, Q0I282, Q20687, Q3T073, Q3ZBR1, Q4QMH2, Q54P38, Q553P6, Q5FB24, Q5HJ89, Q5REZ1, Q5UQ15, Q65W23, Q6CLJ7, Q6GCI8, Q6TAW2, Q7NX81, Q7VKZ7, Q87TF6, Q8MN49
Diamond homologs: Q3T073, Q3ZBR1, Q5REZ1, Q6TAW2, Q8N6R1, Q9R2C1, Q9Y6X1, Q9Z1W5
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
10 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 5 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1618 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:150544499:C:CC | acceptor_gain | 1.0000 |
| 3:150546045:T:A | donor_gain | 1.0000 |
| 3:150546046:CCTTA:C | donor_loss | 1.0000 |
| 3:150546047:CTTAC:C | donor_loss | 1.0000 |
| 3:150546048:TTACC:T | donor_loss | 1.0000 |
| 3:150546049:TACCG:T | donor_loss | 1.0000 |
| 3:150546050:A:AC | donor_gain | 1.0000 |
| 3:150546050:ACCG:A | donor_loss | 1.0000 |
| 3:150546051:C:CC | donor_gain | 1.0000 |
| 3:150546826:GACAG:G | donor_gain | 1.0000 |
| 3:150546831:G:GG | donor_gain | 1.0000 |
| 3:150552341:A:AG | acceptor_gain | 1.0000 |
| 3:150552342:T:G | acceptor_gain | 1.0000 |
| 3:150552346:A:AG | acceptor_gain | 1.0000 |
| 3:150552347:C:G | acceptor_gain | 1.0000 |
| 3:150552354:A:AG | acceptor_gain | 1.0000 |
| 3:150552354:A:C | acceptor_loss | 1.0000 |
| 3:150552354:AGTCC:A | acceptor_gain | 1.0000 |
| 3:150552355:G:GG | acceptor_gain | 1.0000 |
| 3:150552355:GT:G | acceptor_gain | 1.0000 |
| 3:150552355:GTC:G | acceptor_gain | 1.0000 |
| 3:150552355:GTCC:G | acceptor_gain | 1.0000 |
| 3:150552355:GTCCG:G | acceptor_gain | 1.0000 |
| 3:150552421:CCAAG:C | donor_loss | 1.0000 |
| 3:150552422:CAAGG:C | donor_loss | 1.0000 |
| 3:150552424:AGGTA:A | donor_loss | 1.0000 |
| 3:150552425:GGTA:G | donor_loss | 1.0000 |
| 3:150552426:GTATG:G | donor_loss | 1.0000 |
| 3:150552427:T:G | donor_loss | 1.0000 |
| 3:150558458:GAAAA:G | donor_gain | 1.0000 |
AlphaMissense
439 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:150545708:C:T | G52D | 1.000 |
| 3:150545709:C:G | G52R | 1.000 |
| 3:150546108:C:G | A10P | 1.000 |
| 3:150545712:A:G | C51R | 0.999 |
| 3:150545717:A:T | V49D | 0.999 |
| 3:150545732:G:T | A44D | 0.999 |
| 3:150546071:C:A | G22V | 0.999 |
| 3:150546071:C:T | G22D | 0.999 |
| 3:150546072:C:A | G22C | 0.999 |
| 3:150546072:C:G | G22R | 0.999 |
| 3:150546075:G:A | R21C | 0.999 |
| 3:150546075:G:T | R21S | 0.999 |
| 3:150546119:C:A | R6M | 0.999 |
| 3:150545711:C:T | C51Y | 0.998 |
| 3:150545729:A:T | L45H | 0.998 |
| 3:150546083:A:T | I18N | 0.998 |
| 3:150546096:G:C | H14D | 0.998 |
| 3:150546103:G:C | N11K | 0.998 |
| 3:150546103:G:T | N11K | 0.998 |
| 3:150546107:G:T | A10D | 0.998 |
| 3:150546118:C:A | R6S | 0.998 |
| 3:150546118:C:G | R6S | 0.998 |
| 3:150546119:C:G | R6T | 0.998 |
| 3:150545710:A:C | C51W | 0.997 |
| 3:150545714:A:T | V50D | 0.997 |
| 3:150545729:A:G | L45P | 0.997 |
| 3:150546083:A:C | I18S | 0.997 |
| 3:150546113:C:G | R8P | 0.997 |
| 3:150546120:T:A | R6W | 0.997 |
| 3:150545703:C:G | A54P | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000413088 (3:150544825 C>A,G), RS1000861731 (3:150542883 A>G), RS1000928135 (3:150546844 A>G), RS1001150410 (3:150543270 T>C), RS1001257435 (3:150547637 T>C), RS1001303814 (3:150547375 G>A,C), RS1002183890 (3:150546510 C>G), RS1002914490 (3:150545222 A>C,G), RS1003335820 (3:150546594 C>A,G,T), RS1003719823 (3:150544887 C>G), RS1004058908 (3:150547537 G>C,T), RS1005338575 (3:150543673 T>G), RS1005363356 (3:150548418 C>G), RS1005408795 (3:150541585 C>A), RS1005414258 (3:150548022 A>G)
Disease associations
OMIM: gene MIM:617674 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST011358_15 | Academic attainment (English) | 5.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0011015 | educational attainment |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 4 |
| Cyclosporine | increases expression | 4 |
| Air Pollutants | affects expression, increases abundance, decreases expression, increases expression | 3 |
| Valproic Acid | decreases methylation, increases expression | 3 |
| Cisplatin | decreases expression, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Tunicamycin | increases expression | 2 |
| Cadmium Chloride | increases expression, increases abundance | 2 |
| Thapsigargin | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bis(tri-n-butyltin)oxide | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| celastrol | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| gedunin | increases expression | 1 |
| entinostat | increases expression | 1 |
| clothianidin | decreases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Diuron | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
Cellosaurus cell lines
10 cell lines: 9 embryonic stem cell, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3GU | Abcam HEK293T SERP1 KO | Transformed cell line | Female |
| CVCL_D1IK | H9 AAVS1-TRE3G-NGN2 CCPG1-/- Keima-RAMP4 | Embryonic stem cell | Female |
| CVCL_D1IM | H9 AAVS1-TRE3G-NGN2 RETREG1-/- Keima-RAMP4 | Embryonic stem cell | Female |
| CVCL_D1IP | H9 AAVS1-TRE3G-NGN2 RETREG3-/- Keima-RAMP4 | Embryonic stem cell | Female |
| CVCL_D1IR | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- Keima-RAMP4 | Embryonic stem cell | Female |
| CVCL_D1IT | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- Keima-RAMP4 | Embryonic stem cell | Female |
| CVCL_D1IV | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- Keima-RAMP4 | Embryonic stem cell | Female |
| CVCL_D1IX | H9 AAVS1-TRE3G-NGN2 RETREG3-/- RETREG2-/- RETREG1-/- TEX264-/- CCPG1-/- Keima-RAMP4 | Embryonic stem cell | Female |
| CVCL_D1IZ | H9 AAVS1-TRE3G-NGN2 TEX264-/- Keima-RAMP4 | Embryonic stem cell | Female |
| CVCL_D1J1 | H9 AAVS1-TRE3G-NGN2 RETREG2-/- Keima-RAMP4 | Embryonic stem cell | Female |
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.