GEMIN7
gene geneOn this page
Also known as FLJ13956
Summary
GEMIN7 (gem nuclear organelle associated protein 7, HGNC:20045) is a protein-coding gene on chromosome 19q13.32, encoding Gem-associated protein 7 (Q9H840). The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs. It is a selective cancer dependency (DepMap: 84.9% of cell lines).
The protein encoded by this gene is a component of the core SMN complex, which is required for pre-mRNA splicing in the nucleus. The encoded protein is found in the nucleoplasm, in nuclear “gems” (Gemini of Cajal bodies), and in the cytoplasm. Three transcript variants encoding the same protein have been found for this gene.
Source: NCBI Gene 79760 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 37 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 84.9% of screened cell lines
- MANE Select transcript:
NM_024707
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20045 |
| Approved symbol | GEMIN7 |
| Name | gem nuclear organelle associated protein 7 |
| Location | 19q13.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ13956 |
| Ensembl gene | ENSG00000142252 |
| Ensembl biotype | protein_coding |
| OMIM | 607419 |
| Entrez | 79760 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 25 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000270257, ENST00000391951, ENST00000591607, ENST00000591747, ENST00000592351, ENST00000885624, ENST00000885625, ENST00000885626, ENST00000885627, ENST00000885628, ENST00000885629, ENST00000885630, ENST00000885631, ENST00000885632, ENST00000885633, ENST00000925297, ENST00000925298, ENST00000925299, ENST00000925300, ENST00000925301, ENST00000925302, ENST00000925303, ENST00000925304, ENST00000925305, ENST00000956990, ENST00000956991
RefSeq mRNA: 5 — MANE Select: NM_024707
NM_001007269, NM_001007270, NM_001319054, NM_001319055, NM_024707
CCDS: CCDS12654
Canonical transcript exons
ENST00000270257 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000953130 | 45090107 | 45091518 |
| ENSE00001048656 | 45079907 | 45080029 |
| ENSE00002974646 | 45079260 | 45079377 |
Expression profiles
Bgee: expression breadth ubiquitous, 214 present calls, max score 92.92.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.9815 / max 36.5861, expressed in 1435 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 176381 | 11.5652 | 1777 |
| 176379 | 1.5750 | 721 |
| 176382 | 1.3334 | 745 |
| 176380 | 0.8565 | 402 |
| 176383 | 0.2167 | 101 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 92.92 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.87 | gold quality |
| granulocyte | CL:0000094 | 92.32 | gold quality |
| ileal mucosa | UBERON:0000331 | 92.06 | gold quality |
| tibialis anterior | UBERON:0001385 | 91.50 | silver quality |
| monocyte | CL:0000576 | 90.56 | gold quality |
| leukocyte | CL:0000738 | 90.33 | gold quality |
| gastrocnemius | UBERON:0001388 | 89.84 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 88.95 | gold quality |
| muscle of leg | UBERON:0001383 | 88.87 | gold quality |
| spleen | UBERON:0002106 | 88.74 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.89 | gold quality |
| right lobe of liver | UBERON:0001114 | 87.81 | gold quality |
| body of stomach | UBERON:0001161 | 87.50 | gold quality |
| esophagus mucosa | UBERON:0002469 | 87.49 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 87.49 | gold quality |
| apex of heart | UBERON:0002098 | 87.01 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 86.33 | gold quality |
| transverse colon | UBERON:0001157 | 86.28 | gold quality |
| adenohypophysis | UBERON:0002196 | 86.27 | gold quality |
| skin of leg | UBERON:0001511 | 86.25 | gold quality |
| heart left ventricle | UBERON:0002084 | 86.18 | gold quality |
| skin of abdomen | UBERON:0001416 | 86.16 | gold quality |
| lymph node | UBERON:0000029 | 85.86 | gold quality |
| cardiac ventricle | UBERON:0002082 | 85.74 | gold quality |
| blood | UBERON:0000178 | 84.99 | gold quality |
| esophagus | UBERON:0001043 | 84.88 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 84.81 | gold quality |
| pituitary gland | UBERON:0000007 | 84.74 | gold quality |
| vermiform appendix | UBERON:0001154 | 84.67 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.19 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
28 targeting GEMIN7, 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-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-3609 | 99.52 | 69.89 | 2587 |
| HSA-MIR-548AH-5P | 99.52 | 69.73 | 2626 |
| HSA-MIR-3923 | 99.52 | 69.21 | 446 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-185-5P | 99.35 | 68.60 | 2497 |
| HSA-MIR-4644 | 99.35 | 69.12 | 2514 |
| HSA-MIR-3160-5P | 99.28 | 69.07 | 1938 |
| HSA-MIR-4695-5P | 99.06 | 64.87 | 1151 |
| HSA-MIR-1294 | 98.91 | 69.26 | 1030 |
| HSA-MIR-9986 | 98.91 | 69.28 | 1024 |
| HSA-MIR-6868-3P | 98.63 | 69.64 | 2259 |
| HSA-MIR-374B-3P | 98.63 | 68.24 | 1360 |
| HSA-MIR-3188 | 98.58 | 65.60 | 878 |
| HSA-MIR-4266 | 98.53 | 67.29 | 1035 |
| HSA-MIR-6730-5P | 98.03 | 68.12 | 1299 |
| HSA-MIR-5681A | 97.99 | 67.17 | 1658 |
| HSA-MIR-3652 | 97.71 | 65.43 | 1890 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-450B-3P | 97.56 | 66.12 | 512 |
| HSA-MIR-4430 | 97.47 | 65.61 | 1813 |
| HSA-MIR-148B-5P | 97.29 | 66.30 | 992 |
| HSA-MIR-6874-3P | 97.29 | 66.34 | 975 |
| HSA-MIR-769-3P | 97.06 | 64.83 | 464 |
| HSA-MIR-4793-5P | 96.88 | 65.90 | 872 |
| HSA-MIR-7706 | 95.96 | 63.68 | 172 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 84.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- Identification and characterization a novel protein component of the survival of motor neurons complex termed Gemin7 using native purified SMN complexes and peptide sequencing by mass spectrometry (PMID:12065586)
- Unrip is recruited to the active SMN complex via a stable interaction with Gemin7 (PMID:16159890)
- Gemin8 has an essential role in the proper structural organization of the SMN complex and the involvement of the heteromeric subunit containing Gemin6, Gemin7, Gemin8, and Unrip in the recruitment of Sm proteins to the snRNP assembly pathway (PMID:17023415)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gemin7 | ENSDARG00000041011 |
| mus_musculus | Gemin7 | ENSMUSG00000044709 |
| rattus_norvegicus | Gemin7l1 | ENSRNOG00000034168 |
| rattus_norvegicus | Gemin7 | ENSRNOG00000049772 |
| caenorhabditis_elegans | WBGENE00007702 |
Protein
Protein identifiers
Gem-associated protein 7 — Q9H840 (reviewed: Q9H840)
Alternative names: SIP3
All UniProt accessions (1): Q9H840
UniProt curated annotations — full annotation on UniProt →
Function. The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre-mRNAs. Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core). In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP. To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A forming an intermediate. Binding of snRNA inside 5Sm triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP.
Subunit / interactions. Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG. Interacts with GEMIN6; the interaction is direct. Interacts with STRAP/UNRIP; the interaction is direct. Interacts with GEMIN8; the interaction is direct. Interacts with SNRPB, SNRPD2, SNRPD3 and SNRPE; the interaction is direct.
Subcellular location. Nucleus. Nucleoplasm. Gem. Cytoplasm.
Similarity. Belongs to the gemin-7 family.
RefSeq proteins (5): NP_001007270, NP_001007271, NP_001305983, NP_001305984, NP_078983* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR020338 | SMN_gemin7 | Family |
| IPR024642 | SUZ-C | Domain |
| IPR047575 | Sm | Domain |
Pfam: PF11095
UniProt features (15 total): strand 6, helix 3, domain 2, modified residue 2, chain 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7BBL | X-RAY DIFFRACTION | 1.52 |
| 1Y96 | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H840-F1 | 80.43 | 0.57 |
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, 3
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-191859 | snRNP Assembly |
| R-HSA-9754678 | SARS-CoV-2 modulates host translation machinery |
MSigDB gene sets: 114 (showing top):
GSE45365_NK_CELL_VS_CD8A_DC_DN, MODULE_255, RORA1_01, ROVERSI_GLIOMA_COPY_NUMBER_UP, MODULE_317, TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, MUELLER_PLURINET, KOYAMA_SEMA3B_TARGETS_UP, MODULE_480, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_RNA_SPLICING, OCT1_06, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_SPLICEOSOMAL_SNRNP_ASSEMBLY
GO Biological Process (4): spliceosomal snRNP assembly (GO:0000387), mRNA splicing, via spliceosome (GO:0000398), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (9): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), nuclear body (GO:0016604), SMN complex (GO:0032797), SMN-Sm protein complex (GO:0034719), Gemini of Cajal bodies (GO:0097504), Sm-like protein family complex (GO:0120114), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of non-coding RNA | 1 |
| SARS-CoV-2-host interactions | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| RNA processing | 2 |
| cytoplasm | 2 |
| Sm-like protein family complex | 2 |
| mRNA splicing, via spliceosome | 1 |
| protein-RNA complex assembly | 1 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| mRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
| SMN-Sm protein complex | 1 |
| SMN complex | 1 |
| nuclear body | 1 |
| protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
698 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GEMIN7 | GEMIN2 | O14893 | 993 |
| GEMIN7 | GEMIN6 | Q8WXD5 | 993 |
| GEMIN7 | STRAP | Q9Y3F4 | 974 |
| GEMIN7 | GEMIN8 | Q9NWZ8 | 968 |
| GEMIN7 | DDX20 | Q9UHI6 | 943 |
| GEMIN7 | GEMIN5 | Q8TEQ6 | 937 |
| GEMIN7 | GEMIN4 | P57678 | 881 |
| GEMIN7 | CSDE1 | O75534 | 782 |
| GEMIN7 | SNRPE | P08578 | 682 |
| GEMIN7 | SMN1 | Q16637 | 675 |
| GEMIN7 | SNRPB | P14678 | 584 |
| GEMIN7 | HNRNPR | O43390 | 561 |
| GEMIN7 | PHAX | Q9H814 | 548 |
| GEMIN7 | SNRPD3 | P43331 | 534 |
| GEMIN7 | COIL | P38432 | 533 |
IntAct
81 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GEMIN6 | GEMIN7 | psi-mi:“MI:0915”(physical association) | 0.960 |
| GEMIN7 | GEMIN6 | psi-mi:“MI:0915”(physical association) | 0.960 |
| GEMIN6 | GEMIN7 | psi-mi:“MI:0407”(direct interaction) | 0.960 |
| SMN1 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.960 |
| SNRPF | GEMIN2 | psi-mi:“MI:0914”(association) | 0.910 |
| STK24 | STRN | psi-mi:“MI:0914”(association) | 0.870 |
| SNRPE | GEMIN2 | psi-mi:“MI:0914”(association) | 0.770 |
| GEMIN7 | STRAP | psi-mi:“MI:0407”(direct interaction) | 0.760 |
| STRAP | GEMIN7 | psi-mi:“MI:0407”(direct interaction) | 0.760 |
| GEMIN7 | SNRNP70 | psi-mi:“MI:0914”(association) | 0.730 |
| GEMIN4 | SNRNP70 | psi-mi:“MI:0914”(association) | 0.730 |
| NCKIPSD | GEMIN2 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRNP70 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.640 |
| STRAP | CDK2AP1 | psi-mi:“MI:0914”(association) | 0.530 |
| DDX20 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| SNRNP70 | GTPBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPE | PRMT5 | psi-mi:“MI:0914”(association) | 0.530 |
| GEMIN7 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (118): GEMIN6 (Two-hybrid), GEMIN6 (Two-hybrid), GEMIN6 (Two-hybrid), CSNK1D (Affinity Capture-MS), EZH2 (Affinity Capture-MS), ITGB4 (Affinity Capture-MS), SMN1 (Affinity Capture-MS), SNRNP70 (Affinity Capture-MS), SNRPD1 (Affinity Capture-MS), GEMIN2 (Affinity Capture-MS), FARP1 (Affinity Capture-MS), RCL1 (Affinity Capture-MS), YME1L1 (Affinity Capture-MS), STRAP (Affinity Capture-MS), DDX20 (Affinity Capture-MS)
ESM2 similar proteins: A2BIG9, A4IGZ4, B0R0W9, B4H303, B7PXE3, D3ZEY4, G2TRR1, H9JD76, O15116, O74499, O75912, P0C550, P23059, P32019, P33279, P47017, P53905, P87173, Q03606, Q0JKV1, Q17QA0, Q17QV9, Q4R8E0, Q52T38, Q58DC8, Q5E9Z8, Q5ZK92, Q6AZT2, Q6GQ67, Q6NU60, Q6NW58, Q6P5D3, Q8IPZ7, Q8K337, Q8LFL8, Q8VC85, Q945P8, Q96P47, Q96S15, Q9BRA0
Diamond homologs: Q17QA0, Q9CWY4, Q9H840, G2TRR1
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GEMIN7 | “form complex” | “SMN complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 69 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 |
|---|---|---|---|
| Metabolism of non-coding RNA | 5 | 64.7× | 1e-06 |
| snRNP Assembly | 12 | 51.8× | 1e-15 |
| SARS-CoV-2 modulates host translation machinery | 10 | 45.7× | 2e-12 |
| Metabolism of RNA | 7 | 6.0× | 7e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| spliceosomal snRNP assembly | 13 | 121.8× | 2e-22 |
| spliceosomal complex assembly | 5 | 48.5× | 1e-05 |
| mRNA splicing, via spliceosome | 6 | 8.9× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
37 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
517 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:45075711:A:AC | donor_gain | 1.0000 |
| 19:45075711:AC:A | donor_gain | 1.0000 |
| 19:45075711:ACC:A | donor_loss | 1.0000 |
| 19:45075712:C:CC | donor_gain | 1.0000 |
| 19:45075712:CC:C | donor_gain | 1.0000 |
| 19:45075712:CCT:C | donor_gain | 1.0000 |
| 19:45075712:CCTG:C | donor_gain | 1.0000 |
| 19:45075859:CGGT:C | acceptor_gain | 1.0000 |
| 19:45075860:GGT:G | acceptor_gain | 1.0000 |
| 19:45075861:GT:G | acceptor_gain | 1.0000 |
| 19:45075862:TCT:T | acceptor_loss | 1.0000 |
| 19:45075863:C:CC | acceptor_gain | 1.0000 |
| 19:45075863:CTGCA:C | acceptor_loss | 1.0000 |
| 19:45090098:A:AG | acceptor_gain | 1.0000 |
| 19:45090099:C:G | acceptor_gain | 1.0000 |
| 19:45090102:A:AG | acceptor_gain | 1.0000 |
| 19:45090105:A:AG | acceptor_gain | 1.0000 |
| 19:45090105:A:AT | acceptor_loss | 1.0000 |
| 19:45090106:G:GG | acceptor_gain | 1.0000 |
| 19:45090106:GC:G | acceptor_gain | 1.0000 |
| 19:45090106:GCC:G | acceptor_gain | 1.0000 |
| 19:45090106:GCCA:G | acceptor_gain | 1.0000 |
| 19:45090106:GCCAA:G | acceptor_gain | 1.0000 |
| 19:45075708:CTCA:C | donor_gain | 0.9900 |
| 19:45075712:CCTGA:C | donor_gain | 0.9900 |
| 19:45075858:GCGGT:G | acceptor_gain | 0.9900 |
| 19:45075859:CGGTC:C | acceptor_gain | 0.9900 |
| 19:45075861:GTCT:G | acceptor_gain | 0.9900 |
| 19:45075862:TCTGC:T | acceptor_gain | 0.9900 |
| 19:45075866:C:CT | acceptor_gain | 0.9900 |
AlphaMissense
830 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:45090353:T:C | F80S | 0.994 |
| 19:45090470:T:A | L119H | 0.991 |
| 19:45090319:A:C | S69R | 0.989 |
| 19:45090321:C:A | S69R | 0.989 |
| 19:45090321:C:G | S69R | 0.989 |
| 19:45090434:T:C | L107P | 0.989 |
| 19:45090419:T:C | F102S | 0.988 |
| 19:45090187:T:C | F25L | 0.986 |
| 19:45090189:T:A | F25L | 0.986 |
| 19:45090189:T:G | F25L | 0.986 |
| 19:45090310:T:G | Y66D | 0.986 |
| 19:45090425:T:A | V104E | 0.985 |
| 19:45090463:G:C | A117P | 0.985 |
| 19:45090482:A:T | D123V | 0.985 |
| 19:45090314:T:C | L67P | 0.983 |
| 19:45090493:T:G | Y127D | 0.982 |
| 19:45090434:T:A | L107Q | 0.981 |
| 19:45090389:T:C | F92S | 0.980 |
| 19:45090449:G:A | G112D | 0.976 |
| 19:45090470:T:C | L119P | 0.975 |
| 19:45090482:A:C | D123A | 0.975 |
| 19:45090481:G:C | D123H | 0.974 |
| 19:45090483:C:A | D123E | 0.974 |
| 19:45090483:C:G | D123E | 0.974 |
| 19:45090383:C:A | A90D | 0.973 |
| 19:45090464:C:A | A117E | 0.973 |
| 19:45090482:A:G | D123G | 0.973 |
| 19:45090470:T:G | L119R | 0.972 |
| 19:45090473:G:C | R120P | 0.972 |
| 19:45090311:A:C | Y66S | 0.971 |
dbSNP variants (sampled 300 via entrez): RS1000032922 (19:45073654 G>A), RS1000132736 (19:45079173 A>G), RS1000141476 (19:45077508 G>T), RS1000363910 (19:45083598 T>C), RS1000545230 (19:45083060 T>C,G), RS1000612333 (19:45089514 G>C), RS1000646217 (19:45083762 G>A), RS1000657357 (19:45078132 A>C,G), RS1000740619 (19:45084118 C>G,T), RS1001351208 (19:45078797 G>A), RS1001430582 (19:45074869 G>A,C), RS1001540621 (19:45078370 G>A,C), RS1001589249 (19:45086482 A>G), RS1001634573 (19:45089009 T>G), RS1001832017 (19:45083318 G>A)
Disease associations
OMIM: gene MIM:607419 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004069_16 | Cerebrospinal fluid AB1-42 levels | 6.000000e-10 |
| GCST005950_15 | Body mass index x sex x age interaction (4df test) | 2.000000e-10 |
| GCST005951_56 | Body mass index | 1.000000e-06 |
| GCST005952_8 | Body mass index (age>50) | 9.000000e-12 |
| GCST005954_4 | Body mass index x age interaction | 2.000000e-07 |
| GCST007320_89 | Alzheimer’s disease or family history of Alzheimer’s disease | 1.000000e-08 |
| GCST007827_13 | Alzheimer’s disease or HDL levels (pleiotropy) | 7.000000e-22 |
| GCST007827_3 | Alzheimer’s disease or HDL levels (pleiotropy) | 1.000000e-97 |
| GCST007827_5 | Alzheimer’s disease or HDL levels (pleiotropy) | 7.000000e-74 |
| GCST007827_8 | Alzheimer’s disease or HDL levels (pleiotropy) | 3.000000e-36 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004670 | beta-amyloid 1-42 measurement |
| EFO:0004340 | body mass index |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0009268 | family history of Alzheimer’s disease |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4105841 (SINGLE PROTEIN)
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 |
|---|---|---|
| GSK-J4 | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| sodium arsenite | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Catechin | affects cotreatment, decreases expression | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Gallic Acid | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Lactic Acid | decreases 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 |
|---|---|---|---|
| CHEMBL4012567 | Binding | Binding affinity to GEMIN7 in human INA-6 cells after 3 hrs by nanoLC-MS/MS method | Ugi Reaction-Derived α-Acyl Aminocarboxamides Bind to Phosphatidylinositol 3-Kinase-Related Kinases, Inhibit HSF1-Dependent Heat Shock Response, and Induce Apoptosis in Multiple Myeloma Cells. — J Med Chem |
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.