SEC61G
gene geneOn this page
Also known as SSS1
Summary
SEC61G (SEC61 translocon subunit gamma, HGNC:18277) is a protein-coding gene on chromosome 7p11.2, encoding Protein transport protein Sec61 subunit gamma (P60059). Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across the endoplasmic reticulum (ER). It is a common-essential gene (DepMap: required in 96.1% of cancer cell lines).
The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. Oligomers of the Sec61 complex form a transmembrane channel where proteins are translocated across and integrated into the ER membrane. This complex consists of three membrane proteins- alpha, beta, and gamma. This gene encodes the gamma-subunit protein. Alternatively spliced transcript variants encoding the same protein have been identified.
Source: NCBI Gene 23480 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 8 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 96.1% of screened cell lines (common-essential)
- MANE Select transcript:
NM_014302
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18277 |
| Approved symbol | SEC61G |
| Name | SEC61 translocon subunit gamma |
| Location | 7p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SSS1 |
| Ensembl gene | ENSG00000132432 |
| Ensembl biotype | protein_coding |
| OMIM | 609215 |
| Entrez | 23480 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 21 protein_coding, 3 retained_intron
ENST00000352861, ENST00000395535, ENST00000415949, ENST00000450622, ENST00000460484, ENST00000461536, ENST00000480303, ENST00000873613, ENST00000873614, ENST00000873615, ENST00000873616, ENST00000916373, ENST00000916374, ENST00000916375, ENST00000916376, ENST00000916377, ENST00000916378, ENST00000916379, ENST00000916380, ENST00000916381, ENST00000916382, ENST00000916383, ENST00000916384, ENST00000946003
RefSeq mRNA: 2 — MANE Select: NM_014302
NM_001012456, NM_014302
CCDS: CCDS5513
Canonical transcript exons
ENST00000352861 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001084924 | 54759158 | 54759211 |
| ENSE00003644295 | 54757495 | 54757594 |
| ENSE00003889608 | 54755779 | 54755881 |
| ENSE00003892617 | 54752253 | 54752420 |
Expression profiles
Bgee: expression breadth ubiquitous, 293 present calls, max score 99.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 171.4870 / max 1512.7578, expressed in 1825 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 84131 | 139.7857 | 1824 |
| 84132 | 26.5168 | 1808 |
| 84130 | 5.1845 | 1604 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pituitary gland | UBERON:0000007 | 99.32 | gold quality |
| body of pancreas | UBERON:0001150 | 99.32 | gold quality |
| adenohypophysis | UBERON:0002196 | 99.27 | gold quality |
| islet of Langerhans | UBERON:0000006 | 99.16 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.98 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.94 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.92 | gold quality |
| cartilage tissue | UBERON:0002418 | 98.89 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 98.89 | gold quality |
| ventricular zone | UBERON:0003053 | 98.88 | gold quality |
| ascending aorta | UBERON:0001496 | 98.86 | gold quality |
| thoracic aorta | UBERON:0001515 | 98.86 | gold quality |
| pericardium | UBERON:0002407 | 98.86 | gold quality |
| left coronary artery | UBERON:0001626 | 98.84 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.82 | gold quality |
| right coronary artery | UBERON:0001625 | 98.81 | gold quality |
| aorta | UBERON:0000947 | 98.77 | gold quality |
| coronary artery | UBERON:0001621 | 98.74 | gold quality |
| tibial artery | UBERON:0007610 | 98.72 | gold quality |
| popliteal artery | UBERON:0002250 | 98.71 | gold quality |
| cortical plate | UBERON:0005343 | 98.71 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.65 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 98.64 | gold quality |
| calcaneal tendon | UBERON:0003701 | 98.64 | gold quality |
| tendon | UBERON:0000043 | 98.63 | gold quality |
| rectum | UBERON:0001052 | 98.63 | gold quality |
| right testis | UBERON:0004534 | 98.61 | gold quality |
| pancreas | UBERON:0001264 | 98.57 | gold quality |
| left uterine tube | UBERON:0001303 | 98.57 | gold quality |
| embryo | UBERON:0000922 | 98.54 | gold quality |
Single-cell (SCXA)
Detected in 21 experiment(s), a significant marker in 17.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6308 | yes | 13680.65 |
| E-MTAB-8530 | yes | 2806.45 |
| E-MTAB-10662 | yes | 1879.22 |
| E-GEOD-84465 | yes | 498.83 |
| E-HCAD-1 | yes | 95.17 |
| E-HCAD-4 | yes | 68.84 |
| E-MTAB-9467 | yes | 48.69 |
| E-HCAD-5 | yes | 33.04 |
| E-CURD-46 | yes | 33.00 |
| E-MTAB-8410 | yes | 27.73 |
| E-CURD-122 | yes | 23.32 |
| E-HCAD-9 | yes | 21.72 |
| E-MTAB-6701 | yes | 17.80 |
| E-MTAB-10042 | yes | 13.00 |
| E-MTAB-8142 | yes | 10.61 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting SEC61G, 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-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-488-3P | 99.61 | 68.79 | 1731 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-548AS-3P | 99.12 | 69.12 | 2294 |
| HSA-MIR-3675-3P | 99.09 | 67.70 | 968 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-4742-5P | 98.89 | 68.41 | 1542 |
| HSA-MIR-10395-3P | 98.10 | 66.70 | 1726 |
| HSA-MIR-6865-3P | 97.54 | 64.67 | 684 |
| HSA-MIR-630 | 97.50 | 66.38 | 921 |
| HSA-MIR-342-3P | 96.44 | 67.48 | 1344 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 96.1% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 12)
- Cotransin, a substrate-selective Sec61 inhibitor, traps nascent transmembrane domains in the cytosolic vestibule, permitting detailed interrogation of an early pre-integration intermediate. (PMID:24497544)
- Sequencing of childhood ependymoma samples indicate Sec61 gamma subunit protein (SEC61G)-epidermal growth factor receptor (EGFR) chimeric mRNAs in one infratentorial ependymoma , arguing that this fusion occurs in a small proportion of these tumors. (PMID:29092923)
- High expression of SEC61G was significantly correlated with poor prognosis in all GBM patients. High expression of SEC61G was also associated with poor outcome. (PMID:31094363)
- LncRNA LINC02418 regulates proliferation and apoptosis of non-small cell lung cancer cells by regulating miR-4677-3p/SEC61G. (PMID:31841189)
- SEC61G plays an oncogenic role in hepatocellular carcinoma cells. (PMID:33171060)
- SEC61G is upregulated and required for tumor progression in human kidney cancer. (PMID:33846795)
- SEC61G promotes breast cancer development and metastasis via modulating glycolysis and is transcriptionally regulated by E2F1. (PMID:34039955)
- SEC61G identified as a prognostic biomarker of head and neck squamous cell carcinoma. (PMID:34173014)
- SEC61G overexpression and DNA amplification correlates with prognosis and immune cell infiltration in head and neck squamous cell carcinoma. (PMID:34590792)
- Prognostic value of SEC61G in lung adenocarcinoma: a comprehensive study based on bioinformatics and in vitro validation. (PMID:34774014)
- SEC61G Promotes Cervical Cancer Proliferation by Activating MAPK Signaling Pathway. (PMID:36092956)
- Knockdown of circ_0044226 promotes endoplasmic reticulum stress-mediated autophagy and apoptosis in hepatic stellate cells via miR-4677-3p/SEC61G axis. (PMID:38421527)
Cross-species orthologs
12 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sec61g | ENSDARG00000018637 |
| mus_musculus | Sec61g | ENSMUSG00000078974 |
| rattus_norvegicus | Sec61g | ENSRNOG00000005203 |
| rattus_norvegicus | AABR07067441.3 | ENSRNOG00000052328 |
| rattus_norvegicus | AABR07028668.1 | ENSRNOG00000060417 |
| rattus_norvegicus | Sec61g-ps4 | ENSRNOG00000061620 |
| rattus_norvegicus | ENSRNOG00000064831 | |
| rattus_norvegicus | ENSRNOG00000076767 | |
| drosophila_melanogaster | Sec61gamma | FBGN0031049 |
| drosophila_melanogaster | CG8860 | FBGN0033691 |
| drosophila_melanogaster | CG13426 | FBGN0034510 |
| caenorhabditis_elegans | WBGENE00001303 |
Protein
Protein identifiers
Protein transport protein Sec61 subunit gamma — P60059 (reviewed: P60059)
All UniProt accessions (1): P60059
UniProt curated annotations — full annotation on UniProt →
Function. Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across the endoplasmic reticulum (ER). Forms a ribosome receptor and a gated pore in the ER membrane, both functions required for cotranslational translocation of nascent polypeptides. The SEC61 channel is also involved in ER membrane insertion of transmembrane proteins: it mediates membrane insertion of the first few transmembrane segments of proteins, while insertion of subsequent transmembrane regions of multi-pass membrane proteins is mediated by the multi-pass translocon (MPT) complex. The SEC61 channel cooperates with the translocating protein TRAM1 to import nascent proteins into the ER.
Subunit / interactions. The SEC61 channel-forming translocon complex consists of channel-forming core components SEC61A1, SEC61B and SEC61G and different auxiliary components such as SEC62 and SEC63. The SEC61 channel associates with the multi-pass translocon (MPT) complex. (Microbial infection) May interact with Zika virus strain Mr-766 non-structural protein 4A/NS4A. May interact with Zika virus French Polynesia 10087PF/2013 non-structural protein 4A/NS4A. (Microbial infection) May interact with Dengue virus DENV2 16681 non-structural protein 4A/NS4A.
Subcellular location. Endoplasmic reticulum membrane.
Similarity. Belongs to the SecE/SEC61-gamma family.
RefSeq proteins (2): NP_001012474, NP_055117* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001901 | Translocase_SecE/Sec61-g | Family |
| IPR008158 | Translocase_Sec61-g | Family |
| IPR023391 | Prot_translocase_SecE_dom_sf | Homologous_superfamily |
Pfam: PF00584
UniProt features (8 total): topological domain 2, modified residue 2, helix 2, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
16 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8DNZ | ELECTRON MICROSCOPY | 2.57 |
| 8DNY | ELECTRON MICROSCOPY | 2.85 |
| 8DO0 | ELECTRON MICROSCOPY | 2.86 |
| 8DO2 | ELECTRON MICROSCOPY | 2.95 |
| 8DNX | ELECTRON MICROSCOPY | 2.98 |
| 8DO1 | ELECTRON MICROSCOPY | 3.01 |
| 8DNV | ELECTRON MICROSCOPY | 3.03 |
| 9D6L | ELECTRON MICROSCOPY | 3.1 |
| 9N9J | ELECTRON MICROSCOPY | 3.2 |
| 8DO3 | ELECTRON MICROSCOPY | 3.22 |
| 8OJ0 | ELECTRON MICROSCOPY | 3.3 |
| 8OJ8 | ELECTRON MICROSCOPY | 3.3 |
| 8DNW | ELECTRON MICROSCOPY | 3.4 |
| 6W6L | ELECTRON MICROSCOPY | 3.84 |
| 9YGY | ELECTRON MICROSCOPY | 4.1 |
| 8B6L | ELECTRON MICROSCOPY | 7.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P60059-F1 | 92.02 | 0.83 |
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): 1, 18
Function
Pathways and Gene Ontology
Reactome pathways
10 pathways
| ID | Pathway |
|---|---|
| R-HSA-1236974 | ER-Phagosome pathway |
| R-HSA-1799339 | SRP-dependent cotranslational protein targeting to membrane |
| R-HSA-9609523 | Insertion of tail-anchored proteins into the endoplasmic reticulum membrane |
| R-HSA-1236975 | Antigen processing-Cross presentation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-72766 | Translation |
| R-HSA-9609507 | Protein localization |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 202 (showing top):
BORCZUK_MALIGNANT_MESOTHELIOMA_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, GOBP_PROTEIN_TARGETING, MORF_RAD21, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, MORF_PSMC2, PUJANA_CHEK2_PCC_NETWORK, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, MORF_ATOX1, GGAANCGGAANY_UNKNOWN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13
GO Biological Process (5): post-translational protein targeting to membrane, translocation (GO:0031204), protein targeting to ER (GO:0045047), protein targeting (GO:0006605), intracellular protein transport (GO:0006886), protein transport (GO:0015031)
GO Molecular Function (3): transmembrane protein transporter activity (GO:0008320), ribosome binding (GO:0043022), protein binding (GO:0005515)
GO Cellular Component (6): Sec61 translocon complex (GO:0005784), cytosol (GO:0005829), membrane (GO:0016020), Ssh1 translocon complex (GO:0071261), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789)
Reactome top-level categories
Rollup of top-7 pathways:
| Category | Pathways |
|---|---|
| Antigen processing-Cross presentation | 1 |
| Translation | 1 |
| Protein localization | 1 |
| Class I MHC mediated antigen processing & presentation | 1 |
| Immune System | 1 |
| Metabolism of proteins | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| establishment of protein localization | 2 |
| intracellular protein localization | 2 |
| translocon complex | 2 |
| cytoplasm | 2 |
| cellular anatomical structure | 2 |
| post-translational protein targeting to endoplasmic reticulum membrane | 1 |
| intracellular protein transmembrane transport | 1 |
| protein targeting | 1 |
| establishment of protein localization to endoplasmic reticulum | 1 |
| protein transport | 1 |
| intracellular transport | 1 |
| transport | 1 |
| macromolecule transmembrane transporter activity | 1 |
| protein transmembrane transport | 1 |
| protein transporter activity | 1 |
| ribonucleoprotein complex binding | 1 |
| binding | 1 |
| endomembrane system | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle membrane | 1 |
| nuclear outer membrane-endoplasmic reticulum membrane network | 1 |
| endoplasmic reticulum subcompartment | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
52 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SEC61G | SFTPC | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFTPC | SEC61G | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC61G | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC61G | LCN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC61G | FAM209A | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC61G | TMEM51 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC61G | AQP6 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PEX12 | SEC61G | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC61G | LRRC25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SEC61G | CREB3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| HLA-C | psi-mi:“MI:0914”(association) | 0.350 | |
| CANX | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2B | OSBPL8 | psi-mi:“MI:0914”(association) | 0.350 |
| DRG1 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC47 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ILF3 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| MAPRE1 | SCAMP1 | psi-mi:“MI:0914”(association) | 0.350 |
| PSPC1 | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| RACK1 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| RBM39 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| RBM42 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| RBM8A | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| RPL5 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| RPS16 | MCRIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| SEC61B | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| SRP19 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| SRP68 | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (49): SEC61G (Two-hybrid), SEC61G (Two-hybrid), SEC61G (Reconstituted Complex), SEC61G (Affinity Capture-MS), SEC61G (Synthetic Lethality), SEC61G (Two-hybrid), SEC61G (Two-hybrid), SEC61G (Two-hybrid), LCN2 (Two-hybrid), CREB3L1 (Two-hybrid), TMEM51 (Two-hybrid), LRRC25 (Two-hybrid), SEC61G (Affinity Capture-MS), SEC61G (Affinity Capture-MS), SEC61G (Affinity Capture-RNA)
ESM2 similar proteins: A6H769, A6MMB1, A6MZM2, C9WPN6, F1QGW6, G1SVB0, O60739, P20461, P30742, P41091, P41567, P41568, P48024, P49171, P51971, P53026, P56330, P60058, P60059, P60060, P61220, P61251, P62081, P62082, P62083, P62854, P62855, P62856, P81795, Q0D5W6, Q2KHU8, Q2VIR3, Q3T104, Q4R4X9, Q56JV1, Q5E938, Q5R797, Q5RFF4, Q5RT64, Q5ZMS3
Diamond homologs: O27713, P0DI74, P0DI75, P35179, P38385, P60058, P60059, P60060, Q09827, Q19967, Q3T104, Q54JV6, Q66KU2, Q7SZU9, Q7T207, Q7Z1B8, Q8I7D9, Q8SRW9, Q962X7, Q9C2D4, Q9SMP2, Q9V668, Q9VWE9, Q2NEV8, A5UKV2, Q6LXB7, Q12UQ2, Q46EU5, Q8PY55, Q8TI84
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SEC61G | “form complex” | “SEC61 complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 39 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 |
|---|---|---|---|
| SRP-dependent cotranslational protein targeting to membrane | 8 | 24.3× | 2e-07 |
| Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) | 5 | 14.8× | 2e-03 |
| Translation | 6 | 11.3× | 1e-03 |
| Regulation of expression of SLITs and ROBOs | 5 | 10.5× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cytoplasmic translation | 6 | 30.9× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
8 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 4 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
723 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:54752416:CACCA:C | acceptor_gain | 1.0000 |
| 7:54752418:CCA:C | acceptor_gain | 1.0000 |
| 7:54752419:CAC:C | acceptor_gain | 1.0000 |
| 7:54752421:C:CC | acceptor_gain | 1.0000 |
| 7:54755770:TTTAC:T | donor_loss | 1.0000 |
| 7:54755771:TTACT:T | donor_loss | 1.0000 |
| 7:54755772:TACTT:T | donor_loss | 1.0000 |
| 7:54755773:ACTTA:A | donor_loss | 1.0000 |
| 7:54755774:C:CA | donor_loss | 1.0000 |
| 7:54755775:T:TG | donor_loss | 1.0000 |
| 7:54755777:A:AC | donor_gain | 1.0000 |
| 7:54755777:ACACA:A | donor_loss | 1.0000 |
| 7:54755778:C:CA | donor_gain | 1.0000 |
| 7:54755778:CA:C | donor_gain | 1.0000 |
| 7:54755778:CACA:C | donor_gain | 1.0000 |
| 7:54755778:CACAA:C | donor_gain | 1.0000 |
| 7:54755880:TT:T | acceptor_gain | 1.0000 |
| 7:54755882:C:CC | acceptor_gain | 1.0000 |
| 7:54755888:T:C | acceptor_gain | 1.0000 |
| 7:54757490:ATTAC:A | donor_loss | 1.0000 |
| 7:54757491:TTA:T | donor_loss | 1.0000 |
| 7:54757492:TA:T | donor_loss | 1.0000 |
| 7:54757494:C:CT | donor_loss | 1.0000 |
| 7:54757591:CTGC:C | acceptor_gain | 1.0000 |
| 7:54757592:TGC:T | acceptor_gain | 1.0000 |
| 7:54757595:C:CC | acceptor_gain | 1.0000 |
| 7:54752417:ACCA:A | acceptor_gain | 0.9900 |
| 7:54752417:ACCAC:A | acceptor_loss | 0.9900 |
| 7:54752418:CCAC:C | acceptor_gain | 0.9900 |
| 7:54752418:CCACT:C | acceptor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000155095 (7:54756566 T>C), RS1000943817 (7:54756740 T>G), RS1001203345 (7:54759404 T>C), RS1001376226 (7:54756956 TAC>T), RS1001700578 (7:54754002 G>A), RS1002319753 (7:54758368 A>G), RS1002578709 (7:54756196 T>C,G), RS1002892878 (7:54759038 C>A), RS1002981079 (7:54760487 A>G), RS1003038001 (7:54758851 G>A,C), RS1003234823 (7:54760185 T>C), RS1003277076 (7:54760716 T>C), RS1003376402 (7:54755364 G>A), RS1003427202 (7:54755165 A>G), RS1004196236 (7:54754900 A>T)
Disease associations
OMIM: gene MIM:609215 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002463_15 | Systemic lupus erythematosus | 2.000000e-06 |
| GCST002690_9 | Very long-chain saturated fatty acid levels (fatty acid 20:0) | 8.000000e-06 |
| GCST009391_896 | Metabolite levels | 3.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006796 | very long-chain saturated fatty acid measurement |
| EFO:0010441 | triacylglycerol 58:7 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067244 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.50 | Kd | 3174 | nM | CHEMBL5653589 |
| 5.50 | ED50 | 3174 | 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 | 2149369: Binding affinity to human SEC61G incubated for 45 mins by Kinobead based pull down assay | kd | 3.1742 | uM |
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 2 |
| sodium arsenite | increases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Particulate Matter | increases abundance, affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| lead acetate | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| butyraldehyde | increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| nivalenol | decreases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| chloropicrin | increases expression | 1 |
| Ethanol | affects cotreatment, decreases expression, increases abundance | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Diuron | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Isoniazid | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Nicotine | increases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Rotenone | 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 |
|---|---|---|---|
| CHEMBL5652411 | Binding | Binding affinity to human SEC61G incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3GQ | Abcam HEK293T SEC61G KO | Transformed cell line | 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.