SEC61A2
gene geneOn this page
Also known as FLJ10578
Summary
SEC61A2 (SEC61 translocon subunit alpha 2, HGNC:17702) is a protein-coding gene on chromosome 10p14, encoding Protein transport protein Sec61 subunit alpha isoform 2 (Q9H9S3). Component of SEC61 channel-forming translocon complex that mediates transport of signal peptide-containing precursor polypeptides across the endoplasmic reticulum (ER).
The protein encoded by this gene has similarity to a mouse protein which suggests a role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. It may also be required for the assembly of membrane and secretory proteins. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 55176 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 43 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_018144
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17702 |
| Approved symbol | SEC61A2 |
| Name | SEC61 translocon subunit alpha 2 |
| Location | 10p14 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10578 |
| Ensembl gene | ENSG00000065665 |
| Ensembl biotype | protein_coding |
| OMIM | 618271 |
| Entrez | 55176 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 11 protein_coding, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000298428, ENST00000304267, ENST00000379017, ENST00000379020, ENST00000379033, ENST00000379051, ENST00000418772, ENST00000419021, ENST00000441368, ENST00000457034, ENST00000466451, ENST00000472221, ENST00000475268, ENST00000495368, ENST00000905219
RefSeq mRNA: 3 — MANE Select: NM_018144
NM_001142627, NM_001142628, NM_018144
CCDS: CCDS44358, CCDS44359, CCDS7088
Canonical transcript exons
ENST00000298428 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001832114 | 12164268 | 12165407 |
| ENSE00003480870 | 12143117 | 12143195 |
| ENSE00003493408 | 12149595 | 12149726 |
| ENSE00003514961 | 12155778 | 12155931 |
| ENSE00003519327 | 12156907 | 12157067 |
| ENSE00003549157 | 12133241 | 12133308 |
| ENSE00003585386 | 12157908 | 12158105 |
| ENSE00003588559 | 12149852 | 12149961 |
| ENSE00003663429 | 12136105 | 12136170 |
| ENSE00003676964 | 12162213 | 12162289 |
| ENSE00003680481 | 12129677 | 12129794 |
| ENSE00003681188 | 12160930 | 12161121 |
Expression profiles
Bgee: expression breadth ubiquitous, 213 present calls, max score 93.23.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.1076 / max 63.8824, expressed in 1637 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 103905 | 6.6678 | 1621 |
| 103906 | 0.3713 | 172 |
| 103907 | 0.0685 | 17 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 93.23 | gold quality |
| sperm | CL:0000019 | 92.94 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 92.59 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.24 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.22 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.13 | gold quality |
| spinal cord | UBERON:0002240 | 91.35 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.17 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.04 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.02 | gold quality |
| endothelial cell | CL:0000115 | 91.00 | gold quality |
| cingulate cortex | UBERON:0003027 | 90.95 | gold quality |
| male germ cell | CL:0000015 | 90.83 | gold quality |
| right frontal lobe | UBERON:0002810 | 90.81 | gold quality |
| cerebellum | UBERON:0002037 | 90.65 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 90.54 | gold quality |
| neocortex | UBERON:0001950 | 89.86 | gold quality |
| frontal cortex | UBERON:0001870 | 89.69 | gold quality |
| frontal lobe | UBERON:0016525 | 89.69 | gold quality |
| hypothalamus | UBERON:0001898 | 89.62 | gold quality |
| cerebral cortex | UBERON:0000956 | 89.23 | gold quality |
| ventricular zone | UBERON:0003053 | 89.19 | gold quality |
| right testis | UBERON:0004534 | 89.19 | gold quality |
| left testis | UBERON:0004533 | 89.16 | gold quality |
| amygdala | UBERON:0001876 | 88.73 | gold quality |
| nucleus accumbens | UBERON:0001882 | 88.66 | gold quality |
| telencephalon | UBERON:0001893 | 88.64 | gold quality |
| caudate nucleus | UBERON:0001873 | 88.46 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 88.46 | gold quality |
| brain | UBERON:0000955 | 88.43 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.20 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
65 targeting SEC61A2, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-7856-5P | 99.75 | 69.99 | 2901 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-3714 | 99.71 | 70.74 | 2671 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Sec61a2 | ENSMUSG00000025816 |
| rattus_norvegicus | Sec61a2 | ENSRNOG00000023278 |
| drosophila_melanogaster | Sec61alpha | FBGN0086357 |
| caenorhabditis_elegans | WBGENE00013311 |
Paralogs (1): SEC61A1 (ENSG00000058262)
Protein
Protein identifiers
Protein transport protein Sec61 subunit alpha isoform 2 — Q9H9S3 (reviewed: Q9H9S3)
All UniProt accessions (10): Q9H9S3, A6NIF9, A6NK38, C9JJV4, F2Z2C7, F8W776, H7C069, H7C1Q9, H7C1S8, Q8TC24
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.
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.
Subcellular location. Endoplasmic reticulum membrane.
Similarity. Belongs to the SecY/SEC61-alpha family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H9S3-1 | 1 | yes |
| Q9H9S3-2 | 2 | |
| Q9H9S3-3 | 3 |
RefSeq proteins (3): NP_001136099, NP_001136100, NP_060614* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002208 | SecY/SEC61-alpha | Family |
| IPR019561 | Translocon_Sec61/SecY_plug_dom | Domain |
| IPR023201 | SecY_dom_sf | Homologous_superfamily |
| IPR030659 | SecY_CS | Conserved_site |
Pfam: PF00344, PF10559
UniProt features (27 total): topological domain 11, transmembrane region 10, sequence conflict 3, splice variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H9S3-F1 | 72.77 | 0.00 |
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-1236974 | ER-Phagosome pathway |
| R-HSA-1799339 | SRP-dependent cotranslational protein targeting to 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-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 154 (showing top):
RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, GOBP_PROTEIN_TARGETING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ENDOPLASMIC_RETICULUM, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, MARTINEZ_RB1_TARGETS_UP, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, AAAGGGA_MIR204_MIR211, DODD_NASOPHARYNGEAL_CARCINOMA_UP, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_DENDRITIC_CELL, GOBP_PROTEIN_TRANSMEMBRANE_TRANSPORT, RASHI_RESPONSE_TO_IONIZING_RADIATION_6
GO Biological Process (3): SRP-dependent cotranslational protein targeting to membrane, translocation (GO:0006616), post-translational protein targeting to membrane, translocation (GO:0031204), protein transport (GO:0015031)
GO Molecular Function (4): signal sequence receptor activity (GO:0005048), transmembrane protein transporter activity (GO:0008320), ribosome binding (GO:0043022), protein binding (GO:0005515)
GO Cellular Component (4): Sec61 translocon complex (GO:0005784), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Antigen processing-Cross presentation | 1 |
| Translation | 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 |
|---|---|
| intracellular protein transmembrane transport | 2 |
| SRP-dependent cotranslational protein targeting to membrane | 1 |
| post-translational protein targeting to endoplasmic reticulum membrane | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| molecular_function | 1 |
| macromolecule transmembrane transporter activity | 1 |
| protein transmembrane transport | 1 |
| protein transporter activity | 1 |
| ribonucleoprotein complex binding | 1 |
| binding | 1 |
| translocon complex | 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 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2565 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SEC61A2 | SEC61B | P38390 | 707 |
| SEC61A2 | SEC61G | P38384 | 643 |
| SEC61A2 | DDOST | P39656 | 643 |
| SEC61A2 | SEC63 | Q9UGP8 | 522 |
| SEC61A2 | PMFBP1 | Q8TBY8 | 484 |
| SEC61A2 | VPS33B | Q9H267 | 481 |
| SEC61A2 | TATDN3 | Q17R31 | 478 |
| SEC61A2 | TMEM147 | Q9BVK8 | 447 |
| SEC61A2 | SEC62 | Q99442 | 443 |
| SEC61A2 | ALLC | Q8N6M5 | 425 |
| SEC61A2 | SRPRA | P08240 | 423 |
| SEC61A2 | CCDC47 | Q96A33 | 422 |
| SEC61A2 | SRP54 | P13624 | 422 |
| SEC61A2 | SPCS2 | Q15005 | 420 |
| SEC61A2 | SRP19 | P09132 | 410 |
IntAct
36 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | XPO1 | psi-mi:“MI:0914”(association) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| RAF1 | CALU | psi-mi:“MI:0914”(association) | 0.640 |
| SEC61A2 | SEC61B | psi-mi:“MI:0915”(physical association) | 0.560 |
| PTPN5 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 |
| USP19 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC16A11 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ADCK2 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| POMK | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| CLN3 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| RAF1 | EIF3CL | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC47 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| SEC61B | RPS3A | psi-mi:“MI:0914”(association) | 0.350 |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN8 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| ASPH | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| OPALIN | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD4A | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC1A1 | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
| AQP3 | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
| SYP | HAS3 | psi-mi:“MI:0914”(association) | 0.350 |
| VIPR1 | SLC33A1 | psi-mi:“MI:0914”(association) | 0.350 |
| ENTPD2 | CLGN | psi-mi:“MI:0914”(association) | 0.350 |
| LRRN4CL | BTAF1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM192 | EXTL3 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC15A2 | LGALS8 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (51): SEC61A2 (Affinity Capture-MS), SEC61A2 (Affinity Capture-MS), SEC61A2 (Affinity Capture-MS), SEC61A2 (Affinity Capture-MS), SEC61A2 (Affinity Capture-MS), SEC61A2 (Affinity Capture-MS), SEC61A2 (Synthetic Lethality), SEC61A2 (Affinity Capture-RNA), TOMM6 (Two-hybrid), SEC61A2 (Affinity Capture-MS), SEC61A2 (Affinity Capture-MS), SEC61A2 (Proximity Label-MS), SEC61A2 (Affinity Capture-MS), SEC61A2 (Proximity Label-MS), SEC61A2 (Affinity Capture-MS)
ESM2 similar proteins: A1C3L4, A3CK84, A3CM55, A6QKE2, A8AWV0, B2ISB6, B9DJQ6, D3HAJ5, D8MEB8, F0P5S5, F2QF13, F6CD01, F6CFW7, F8LHW1, F8LR08, P27148, P28527, P38377, P58118, P61619, P61620, P61621, P79088, Q2FUW2, Q2KHX4, Q2YZ90, Q3K059, Q4L9N9, Q54XK2, Q5EA68, Q5HCP4, Q5NVM7, Q5R5L5, Q74L41, Q7A363, Q7T277, Q7T278, Q8AY31, Q8AY32, Q8AY34
Diamond homologs: O26134, O28377, O59442, P28541, P28542, P32915, P38377, P38379, P49978, P61619, P61620, P61621, P78979, P79088, Q25147, Q2KHX4, Q54XK2, Q5EA68, Q5NVM7, Q5R5L5, Q60175, Q6BN08, Q6CPY9, Q6FRY3, Q752H7, Q7T277, Q7T278, Q870W0, Q8AY31, Q8AY32, Q8AY33, Q8AY34, Q8AY35, Q8AY36, Q8U019, Q90YL4, Q90ZM2, Q96TW8, Q977V3, Q98SN8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SEC61A2 | “form complex” | “SEC61 complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 48 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 |
|---|---|---|---|
| SLC-mediated transmembrane transport | 5 | 10.6× | 8e-03 |
| Transport of small molecules | 7 | 6.3× | 8e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ERAD pathway | 5 | 22.1× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2708 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:12129790:GGGCA:G | donor_gain | 1.0000 |
| 10:12129791:GGCA:G | donor_gain | 1.0000 |
| 10:12129791:GGCAG:G | donor_gain | 1.0000 |
| 10:12129792:GCA:G | donor_gain | 1.0000 |
| 10:12129792:GCAG:G | donor_gain | 1.0000 |
| 10:12129795:G:GG | donor_gain | 1.0000 |
| 10:12133239:A:AG | acceptor_gain | 1.0000 |
| 10:12133240:G:GA | acceptor_gain | 1.0000 |
| 10:12133240:GT:G | acceptor_gain | 1.0000 |
| 10:12133240:GTC:G | acceptor_gain | 1.0000 |
| 10:12133240:GTCA:G | acceptor_gain | 1.0000 |
| 10:12133240:GTCAA:G | acceptor_gain | 1.0000 |
| 10:12133304:GGAAA:G | donor_gain | 1.0000 |
| 10:12133305:GAAA:G | donor_gain | 1.0000 |
| 10:12133305:GAAAG:G | donor_gain | 1.0000 |
| 10:12133306:A:T | donor_gain | 1.0000 |
| 10:12133306:AAA:A | donor_gain | 1.0000 |
| 10:12133307:AA:A | donor_gain | 1.0000 |
| 10:12133308:AG:A | donor_loss | 1.0000 |
| 10:12133309:G:GG | donor_gain | 1.0000 |
| 10:12133310:TAA:T | donor_loss | 1.0000 |
| 10:12149722:GAAAC:G | donor_gain | 1.0000 |
| 10:12149727:G:GG | donor_gain | 1.0000 |
| 10:12149840:A:AG | acceptor_gain | 1.0000 |
| 10:12149841:A:G | acceptor_gain | 1.0000 |
| 10:12149850:A:AG | acceptor_gain | 1.0000 |
| 10:12149851:G:GG | acceptor_gain | 1.0000 |
| 10:12149851:GT:G | acceptor_gain | 1.0000 |
| 10:12156040:GGGA:G | donor_gain | 1.0000 |
| 10:12157904:TTAG:T | acceptor_loss | 1.0000 |
AlphaMissense
3084 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:12136145:T:A | L39H | 1.000 |
| 10:12136145:T:C | L39P | 1.000 |
| 10:12136153:T:C | F42L | 1.000 |
| 10:12136155:C:A | F42L | 1.000 |
| 10:12136155:C:G | F42L | 1.000 |
| 10:12136162:T:C | C45R | 1.000 |
| 10:12143124:T:A | L50Q | 1.000 |
| 10:12143129:G:A | G52R | 1.000 |
| 10:12143129:G:C | G52R | 1.000 |
| 10:12143130:G:A | G52E | 1.000 |
| 10:12143153:G:C | D60H | 1.000 |
| 10:12143172:G:C | R66T | 1.000 |
| 10:12143172:G:T | R66I | 1.000 |
| 10:12143184:C:A | A70D | 1.000 |
| 10:12143186:T:C | S71P | 1.000 |
| 10:12143187:C:T | S71F | 1.000 |
| 10:12143195:G:A | G74R | 1.000 |
| 10:12143195:G:C | G74R | 1.000 |
| 10:12149595:G:A | G74E | 1.000 |
| 10:12149595:G:T | G74V | 1.000 |
| 10:12149598:C:T | T75I | 1.000 |
| 10:12149606:G:A | E78K | 1.000 |
| 10:12149612:G:A | G80S | 1.000 |
| 10:12149612:G:C | G80R | 1.000 |
| 10:12149612:G:T | G80C | 1.000 |
| 10:12149613:G:A | G80D | 1.000 |
| 10:12149613:G:T | G80V | 1.000 |
| 10:12149622:C:A | P83Q | 1.000 |
| 10:12149622:C:G | P83R | 1.000 |
| 10:12149622:C:T | P83L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000003758 (10:12154125 T>C), RS1000078891 (10:12155218 G>A,C), RS1000203386 (10:12153917 C>A,T), RS1000311819 (10:12133557 G>A,C), RS1000323179 (10:12160671 G>A), RS1000360604 (10:12166007 G>A), RS1000443631 (10:12168303 C>A,T), RS1000502581 (10:12147626 A>G), RS1000525151 (10:12132336 A>T), RS1000630939 (10:12137347 G>A), RS1000719988 (10:12132364 A>G), RS1000893248 (10:12128027 G>A,C), RS1000955107 (10:12143420 G>A,T), RS1001024770 (10:12143652 G>T), RS1001058073 (10:12155538 A>G)
Disease associations
OMIM: gene MIM:618271 | disease phenotypes: MIM:174050
GenCC curated gene-disease
Mondo (1): autosomal dominant polycystic liver disease (MONDO:0000447)
Orphanet (1): Isolated polycystic liver disease (Orphanet:2924)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0006557 | Polycystic liver disease |
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases expression | 5 |
| Acetaminophen | increases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | increases expression | 1 |
| cupric oxide | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Testosterone | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Okadaic Acid | increases expression | 1 |
Clinical trials (associated diseases)
17 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01157858 | PHASE2 | COMPLETED | Everolimus and LongActing Octreotide Trial in Polycystic Livers |
| NCT01670110 | PHASE2 | COMPLETED | Pasireotide LAR in Severe Polycystic Liver Disease |
| NCT02021110 | PHASE2 | COMPLETED | Ursodeoxycholic Acid as Treatment for Polycystic Liver Disease |
| NCT05478083 | PHASE2 | RECRUITING | A GnRH Agonist IN Pre-menopausal Women STudy to Treat Severe Polycystic Liver Disease |
| NCT00426153 | PHASE2/PHASE3 | COMPLETED | Octreotide in Severe Polycystic Liver Disease |
| NCT00565097 | PHASE2/PHASE3 | COMPLETED | Lanreotide as Treatment of Polycystic Livers |
| NCT00771888 | PHASE2/PHASE3 | UNKNOWN | Open-Label Extension of LOCKCYST Trial |
| NCT01315795 | PHASE2/PHASE3 | COMPLETED | Lanreotide Autogel in the Treatment of Symptomatic Polycystic Liver Disease |
| NCT05281328 | PHASE2/PHASE3 | ACTIVE_NOT_RECRUITING | A Trial to Assess the Efficacy and Safety of Octreotide Subcutaneous Depot in Patients With PLD |
| NCT00934791 | Not specified | TERMINATED | Polycystic Liver Disease in Kidney Transplant |
| NCT01354405 | Not specified | COMPLETED | Somatostatin Analogues as a Volume Reducing Treatment of Polycystic Livers (RESOLVE) |
| NCT02173080 | Not specified | COMPLETED | Development and Assessment of The Polycystic Liver Disease Questionnaire (PLD-Q). |
| NCT03960710 | Not specified | UNKNOWN | Automatic Segmentation of Polycystic Liver |
| NCT04111692 | Not specified | RECRUITING | A Prospective Observational Study of Foam Sclerotherapy . |
| NCT04645251 | Not specified | RECRUITING | Polycystic Liver Disease Registry (UK) |
| NCT05215964 | Not specified | UNKNOWN | The Association Between Skeletal Muscle Mass and Severity of Polycystic Liver Disease and Polycystic Kidney Disease |
| NCT05500157 | Not specified | UNKNOWN | Assessment of Treatment With Laparoscopic Fenestration or Aspiration Sclerotherapy for Large Symptomatic Hepatic Cysts |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal dominant polycystic liver disease