GINS4
gene geneOn this page
Also known as MGC14799SLD5
Summary
GINS4 (GINS complex subunit 4, HGNC:28226) is a protein-coding gene on chromosome 8p11.21, encoding DNA replication complex GINS protein SLD5 (Q9BRT9). Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. It is a common-essential gene (DepMap: required in 97.9% of cancer cell lines).
The yeast heterotetrameric GINS complex is made up of Sld5, Psf1 (GINS1; MIM 610608), Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]). See GINS1 for additional information about the GINS complex.
Source: NCBI Gene 84296 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 35 total
- Cancer dependency (DepMap): dependent in 97.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_032336
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28226 |
| Approved symbol | GINS4 |
| Name | GINS complex subunit 4 |
| Location | 8p11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC14799, SLD5 |
| Ensembl gene | ENSG00000147536 |
| Ensembl biotype | protein_coding |
| OMIM | 610611 |
| Entrez | 84296 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 4 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay
ENST00000276533, ENST00000518430, ENST00000518671, ENST00000520354, ENST00000520631, ENST00000520710, ENST00000520736, ENST00000522642, ENST00000523277
RefSeq mRNA: 1 — MANE Select: NM_032336
NM_032336
CCDS: CCDS6116
Canonical transcript exons
ENST00000276533 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001253142 | 41541991 | 41545030 |
| ENSE00001746541 | 41529261 | 41529396 |
| ENSE00003516905 | 41539916 | 41540004 |
| ENSE00003554215 | 41536360 | 41536446 |
| ENSE00003585396 | 41530184 | 41530298 |
| ENSE00003691403 | 41537180 | 41537293 |
| ENSE00003692072 | 41539678 | 41539775 |
| ENSE00003889930 | 41541809 | 41541899 |
Expression profiles
Bgee: expression breadth ubiquitous, 174 present calls, max score 88.35.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0009 / max 91.0908, expressed in 1490 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 88646 | 4.7495 | 1303 |
| 88645 | 2.2514 | 996 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 88.35 | gold quality |
| secondary oocyte | CL:0000655 | 88.12 | gold quality |
| ventricular zone | UBERON:0003053 | 83.22 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.60 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.31 | gold quality |
| ganglionic eminence | UBERON:0004023 | 79.61 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.31 | gold quality |
| embryo | UBERON:0000922 | 74.89 | gold quality |
| adrenal tissue | UBERON:0018303 | 73.10 | gold quality |
| rectum | UBERON:0001052 | 72.60 | gold quality |
| vermiform appendix | UBERON:0001154 | 70.27 | gold quality |
| buccal mucosa cell | CL:0002336 | 70.09 | silver quality |
| lymph node | UBERON:0000029 | 69.80 | gold quality |
| gall bladder | UBERON:0002110 | 68.80 | gold quality |
| islet of Langerhans | UBERON:0000006 | 68.69 | gold quality |
| right testis | UBERON:0004534 | 68.21 | gold quality |
| bone marrow cell | CL:0002092 | 68.11 | silver quality |
| left testis | UBERON:0004533 | 67.94 | gold quality |
| testis | UBERON:0000473 | 67.83 | gold quality |
| caecum | UBERON:0001153 | 67.52 | gold quality |
| bone marrow | UBERON:0002371 | 67.39 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 66.73 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 66.68 | gold quality |
| monocyte | CL:0000576 | 66.63 | gold quality |
| leukocyte | CL:0000738 | 66.62 | gold quality |
| mononuclear cell | CL:0000842 | 66.48 | gold quality |
| esophagus mucosa | UBERON:0002469 | 65.84 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 64.91 | gold quality |
| colonic epithelium | UBERON:0000397 | 64.73 | silver quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 64.29 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6379 | no | 59.57 |
| E-ENAD-27 | no | 3.91 |
| E-ANND-3 | no | 3.37 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
91 targeting GINS4, 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-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| 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-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 97.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 18)
- The C-terminal domains of the Sld5 and Psf1 subunits are connected by linker regions to the core complex, and the C-terminal domain of Sld5 is important for core complex assembly. (PMID:17417653)
- Knockdown of SLD5 using small interfering RNA resulted in reduction of cell growth both in vitro and an in vivo xenograft model. Moreover, we found that high levels of SLD5 in bladder cancer cells result from downregulation of microRNA (miR)-370 that otherwise suppresses its expression. (PMID:27499248)
- Sld5 a component of GINS complex interacts with SIK1 and recruits it to the sites of DNA replication at the onset of S phase. (PMID:27592030)
- The authors show that GINS is a compact tetramer in solution as observed in crystal structures, but also forms a double-tetrameric population, detectable by electron microscopy. (PMID:28071757)
- Sld5 has an independent role in maintaining the centrosome structure by resisting the microtubule-mediated forces during mitosis. (PMID:29061732)
- mRNA expressions of all GINS subunits were significantly up-regulated in hepatocellular carcinoma tumor than in non-tumor liver tissues. (PMID:30413605)
- Influenza virus matrix protein M1 interacts with SLD5 to block host cell cycle. (PMID:31050118)
- GINS4 facilitates lung cancer progression by promoting key characteristics of tumor potential, and LSH epigenetically interacts with and stabilizes GINS4 transcripts. (PMID:31253190)
- The novel GINS4 axis promotes gastric cancer growth and progression by activating Rac1 and CDC42. (PMID:31754397)
- Besides, our results also indicated that Kruppel-like factor 4 (KLF4) can negatively regulate GINS4 expression at the transcriptional level and the KLF/GINS4 pathway might play a vital role in the growth and prognosis of colorectal cancer (CRC). (PMID:32012389)
- Overexpression of GINS4 is associated with poor prognosis and survival in glioma patients. (PMID:34556022)
- Multiple RNA virus matrix proteins interact with SLD5 to manipulate host cell cycle. (PMID:34882534)
- GINS4 might be a novel prognostic immune-related biomarker of not only esophageal squamous cell carcinoma and other cancers. (PMID:35365175)
- Combined analysis of expression, prognosis and immune infiltration of GINS family genes in human sarcoma. (PMID:35896011)
- MicroRNA-133a-3p Inhibits Lung Adenocarcinoma Development and Cisplatin Resistance through Targeting GINS4. (PMID:36273455)
- Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia. (PMID:36345943)
- Hsa_circ_0008673 Promotes Breast Cancer Progression by MiR-578/GINS4 Axis. (PMID:36628810)
- The Molecular Pathogenesis of Tumor-Suppressive miR-486-5p and miR-486-3p Target Genes: GINS4 Facilitates Aggressiveness in Lung Adenocarcinoma. (PMID:37508549)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gins4 | ENSDARG00000016044 |
| mus_musculus | Gins4 | ENSMUSG00000031546 |
| rattus_norvegicus | Gins4 | ENSRNOG00000018040 |
| drosophila_melanogaster | Sld5 | FBGN0039403 |
| caenorhabditis_elegans | WBGENE00013768 |
Protein
Protein identifiers
DNA replication complex GINS protein SLD5 — Q9BRT9 (reviewed: Q9BRT9)
Alternative names: GINS complex subunit 4
All UniProt accessions (3): Q9BRT9, E5RFF9, E5RH56
UniProt curated annotations — full annotation on UniProt →
Function. Required for correct functioning of the GINS complex, a complex that plays an essential role in the initiation of DNA replication, and progression of DNA replication forks. GINS complex is a core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built.
Subunit / interactions. Component of the GINS complex which is a heterotetramer of GINS1, GINS2, GINS3 and GINS4. Forms a stable subcomplex with GINS1. GINS complex interacts with DNA primase in vitro. Component of the CMG helicase complex, a hexameric ring of related MCM2-7 subunits stabilized by CDC45 and the tetrameric GINS complex.
Subcellular location. Nucleus. Chromosome. Cytoplasm.
Induction. Significantly up-regulated in aggressive melanomas.
Similarity. Belongs to the GINS4/SLD5 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BRT9-1 | 1 | yes |
| Q9BRT9-2 | 2 |
RefSeq proteins (1): NP_115712* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR008591 | GINS_Sld5 | Family |
| IPR021151 | GINS_A | Domain |
| IPR031633 | SLD5_C | Domain |
| IPR036224 | GINS_bundle-like_dom_sf | Homologous_superfamily |
| IPR038749 | Sld5_GINS_A | Domain |
Pfam: PF05916, PF16922
UniProt features (26 total): helix 10, strand 6, modified residue 4, chain 2, splice variant 2, initiator methionine 1, region of interest 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2E9X | X-RAY DIFFRACTION | 2.3 |
| 2Q9Q | X-RAY DIFFRACTION | 2.36 |
| 9E2Z | ELECTRON MICROSCOPY | 2.6 |
| 7PLO | ELECTRON MICROSCOPY | 2.8 |
| 2EHO | X-RAY DIFFRACTION | 3 |
| 7PFO | ELECTRON MICROSCOPY | 3.2 |
| 6XTX | ELECTRON MICROSCOPY | 3.29 |
| 8B9D | ELECTRON MICROSCOPY | 3.4 |
| 8OK2 | ELECTRON MICROSCOPY | 4.1 |
| 6XTY | ELECTRON MICROSCOPY | 6.77 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BRT9-F1 | 90.84 | 0.82 |
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 (4): 1, 2, 12, 16
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-176974 | Unwinding of DNA |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-69190 | DNA strand elongation |
| R-HSA-69239 | Synthesis of DNA |
| R-HSA-69242 | S Phase |
| R-HSA-69278 | Cell Cycle, Mitotic |
| R-HSA-69306 | DNA Replication |
MSigDB gene sets: 146 (showing top):
REACTOME_DNA_REPLICATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_GROWTH, GOBP_INNER_CELL_MASS_CELL_PROLIFERATION, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_BLASTOCYST_DEVELOPMENT, GOBP_DNA_DAMAGE_RESPONSE, FISCHER_DREAM_TARGETS, GOBP_EMBRYO_DEVELOPMENT, GOBP_BLASTOCYST_GROWTH, GOBP_RECOMBINATIONAL_REPAIR, ROSTY_CERVICAL_CANCER_PROLIFERATION_CLUSTER, GOBP_DNA_REPLICATION
GO Biological Process (4): double-strand break repair via break-induced replication (GO:0000727), inner cell mass cell proliferation (GO:0001833), DNA replication (GO:0006260), DNA-templated DNA replication (GO:0006261)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): GINS complex (GO:0000811), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), CMG complex (GO:0071162), chromosome (GO:0005694)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| DNA strand elongation | 1 |
| Synthesis of DNA | 1 |
| S Phase | 1 |
| DNA Replication | 1 |
| Cell Cycle, Mitotic | 1 |
| Cell Cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear chromosome | 2 |
| DNA replication preinitiation complex | 2 |
| cellular anatomical structure | 2 |
| double-strand break repair via homologous recombination | 1 |
| blastocyst growth | 1 |
| cell population proliferation | 1 |
| DNA metabolic process | 1 |
| DNA biosynthetic process | 1 |
| DNA replication | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| GINS complex | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1298 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GINS4 | GINS2 | Q9Y248 | 999 |
| GINS4 | GINS1 | Q14691 | 999 |
| GINS4 | GINS3 | Q9BRX5 | 999 |
| GINS4 | CDC45 | O75419 | 996 |
| GINS4 | TICRR | Q7Z2Z1 | 875 |
| GINS4 | MCM10 | Q7L590 | 857 |
| GINS4 | MCM4 | P33991 | 831 |
| GINS4 | TOPBP1 | Q92547 | 826 |
| GINS4 | WDHD1 | O75717 | 816 |
| GINS4 | MCM3 | P25205 | 797 |
| GINS4 | DBF4 | Q9UBU7 | 792 |
| GINS4 | CDT1 | Q9H211 | 737 |
| GINS4 | MCM7 | P33993 | 732 |
| GINS4 | RECQL4 | O94761 | 725 |
| GINS4 | CDC6 | Q99741 | 718 |
IntAct
89 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RPA2 | RPA1 | psi-mi:“MI:0914”(association) | 0.960 |
| RPA1 | RPA2 | psi-mi:“MI:0914”(association) | 0.960 |
| RPA3 | RPA2 | psi-mi:“MI:0914”(association) | 0.930 |
| GINS3 | GINS1 | psi-mi:“MI:0914”(association) | 0.880 |
| GINS4 | GINS2 | psi-mi:“MI:0915”(physical association) | 0.870 |
| GINS2 | GINS4 | psi-mi:“MI:0915”(physical association) | 0.870 |
| GINS1 | GINS4 | psi-mi:“MI:0915”(physical association) | 0.860 |
| GINS1 | GINS4 | psi-mi:“MI:0914”(association) | 0.860 |
| MCM2 | MCM4 | psi-mi:“MI:0914”(association) | 0.830 |
| GINS4 | SIK1 | psi-mi:“MI:0915”(physical association) | 0.800 |
| SIK1 | GINS4 | psi-mi:“MI:0914”(association) | 0.800 |
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| GINS4 | MCMBP | psi-mi:“MI:0915”(physical association) | 0.590 |
| CDC45 | GINS4 | psi-mi:“MI:0407”(direct interaction) | 0.570 |
| PPP1R13B | GINS4 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (131): GINS4 (Two-hybrid), GINS4 (Affinity Capture-MS), GINS4 (Affinity Capture-MS), GINS4 (Affinity Capture-MS), GINS4 (Two-hybrid), GINS4 (Co-fractionation), GINS4 (Co-fractionation), GINS4 (Co-fractionation), GINS4 (Co-fractionation), GINS4 (Co-fractionation), WDHD1 (Co-fractionation), GINS4 (Affinity Capture-MS), GINS4 (Affinity Capture-MS), GINS4 (Affinity Capture-MS), GINS4 (Affinity Capture-MS)
ESM2 similar proteins: A2VE40, A4IFH4, G5EDN3, O94329, P0CQ30, P29458, P41229, P41230, P52590, P57740, P91133, Q03406, Q09915, Q12488, Q14691, Q22019, Q2HE71, Q2KI89, Q38JA7, Q499W2, Q54HR6, Q55EA2, Q5R629, Q626F4, Q6BXX6, Q6BZ44, Q6CE80, Q6CHE4, Q6CKF3, Q6CPV6, Q6CRT8, Q6CW43, Q6FS76, Q6FT85, Q6FVY5, Q6NQP5, Q753I0, Q75E92, Q7ZT47, Q7ZT48
Diamond homologs: A2VE40, Q499W2, Q55EA2, Q6NQP5, Q7ZT48, Q99LZ3, Q9BRT9, Q9P7C8, Q2HE71, Q4IQM6, Q753I0, Q03406, Q6BXX6, Q6CE80, Q6CKF3, Q6FT85
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 63 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 |
|---|---|---|---|
| Activation of the pre-replicative complex | 8 | 58.0× | 1e-10 |
| Activation of ATR in response to replication stress | 8 | 53.4× | 1e-10 |
| DNA Replication Pre-Initiation | 5 | 35.2× | 2e-05 |
| Synthesis of DNA | 5 | 33.4× | 2e-05 |
| DNA Replication | 5 | 26.4× | 5e-05 |
| G1/S Transition | 5 | 25.9× | 5e-05 |
| Mitotic G1 phase and G1/S transition | 5 | 20.5× | 1e-04 |
| S Phase | 5 | 20.1× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| DNA replication | 13 | 36.4× | 8e-15 |
| nucleosome assembly | 5 | 11.9× | 3e-03 |
| DNA repair | 7 | 7.6× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
35 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1358 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:41529397:G:GG | donor_gain | 1.0000 |
| 8:41530295:GCAG:G | donor_gain | 1.0000 |
| 8:41530296:CAGGT:C | donor_loss | 1.0000 |
| 8:41530297:AGGT:A | donor_loss | 1.0000 |
| 8:41530298:GGTAA:G | donor_loss | 1.0000 |
| 8:41530299:G:GG | donor_gain | 1.0000 |
| 8:41530299:GTA:G | donor_loss | 1.0000 |
| 8:41530300:T:G | donor_loss | 1.0000 |
| 8:41535596:A:AG | donor_gain | 1.0000 |
| 8:41535601:T:G | donor_gain | 1.0000 |
| 8:41536354:TTTTA:T | acceptor_loss | 1.0000 |
| 8:41536356:TTAG:T | acceptor_loss | 1.0000 |
| 8:41536357:TA:T | acceptor_loss | 1.0000 |
| 8:41536358:A:AG | acceptor_gain | 1.0000 |
| 8:41536358:A:G | acceptor_loss | 1.0000 |
| 8:41536358:AG:A | acceptor_gain | 1.0000 |
| 8:41536359:G:GA | acceptor_gain | 1.0000 |
| 8:41536359:GG:G | acceptor_gain | 1.0000 |
| 8:41536359:GGC:G | acceptor_gain | 1.0000 |
| 8:41536359:GGCC:G | acceptor_gain | 1.0000 |
| 8:41536359:GGCCT:G | acceptor_gain | 1.0000 |
| 8:41536444:ATG:A | donor_loss | 1.0000 |
| 8:41536447:G:GG | donor_gain | 1.0000 |
| 8:41537177:TA:T | acceptor_loss | 1.0000 |
| 8:41537178:AGG:A | acceptor_loss | 1.0000 |
| 8:41537179:G:GC | acceptor_loss | 1.0000 |
| 8:41537269:C:G | donor_gain | 1.0000 |
| 8:41537317:GGAT:G | donor_gain | 1.0000 |
| 8:41537328:GCACA:G | donor_gain | 1.0000 |
| 8:41537333:GTCT:G | donor_gain | 1.0000 |
AlphaMissense
1476 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:41542074:T:A | V220D | 0.996 |
| 8:41537277:G:C | R94P | 0.994 |
| 8:41537282:C:A | R96S | 0.994 |
| 8:41537283:G:C | R96P | 0.994 |
| 8:41542037:T:G | Y208D | 0.994 |
| 8:41542059:T:A | V215D | 0.994 |
| 8:41542080:T:C | L222P | 0.994 |
| 8:41537282:C:G | R96G | 0.992 |
| 8:41537286:T:C | L97P | 0.992 |
| 8:41536363:T:A | W34R | 0.991 |
| 8:41536363:T:C | W34R | 0.991 |
| 8:41536374:A:C | E37D | 0.991 |
| 8:41536374:A:T | E37D | 0.991 |
| 8:41537248:G:C | R84S | 0.991 |
| 8:41537248:G:T | R84S | 0.991 |
| 8:41542080:T:A | L222Q | 0.991 |
| 8:41530279:T:C | L26P | 0.990 |
| 8:41536382:C:A | A40D | 0.990 |
| 8:41541842:T:C | L173P | 0.990 |
| 8:41536424:T:A | V54D | 0.989 |
| 8:41537262:T:C | L89P | 0.989 |
| 8:41541838:T:C | F172L | 0.989 |
| 8:41541839:T:C | F172S | 0.989 |
| 8:41541840:T:A | F172L | 0.989 |
| 8:41541840:T:G | F172L | 0.989 |
| 8:41536373:A:T | E37V | 0.988 |
| 8:41536436:T:C | L58P | 0.988 |
| 8:41537247:G:C | R84T | 0.988 |
| 8:41542019:T:C | S202P | 0.987 |
| 8:41542029:T:C | L205S | 0.987 |
dbSNP variants (sampled 300 via entrez): RS1000262073 (8:41544986 G>T), RS1000419496 (8:41530507 G>T), RS1000702407 (8:41532427 A>C,G,T), RS1000805511 (8:41545255 C>A,T), RS1000866372 (8:41534597 T>A), RS1001887933 (8:41531675 T>C), RS1002215363 (8:41540529 G>A), RS1002479101 (8:41537561 C>T), RS1002548466 (8:41528971 G>C,T), RS1002754481 (8:41534779 C>T), RS1002807634 (8:41541184 C>G,T), RS1002829166 (8:41537327 A>G), RS1002881352 (8:41537606 A>C,G), RS1003166577 (8:41531661 C>T), RS1003179090 (8:41543186 C>T)
Disease associations
OMIM: gene MIM:610611 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
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
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases expression, increases expression, increases methylation | 4 |
| Cyclosporine | decreases expression | 3 |
| Aflatoxin B1 | affects expression, increases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Cisplatin | affects cotreatment, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| GSK-J4 | decreases expression | 1 |
| afuresertib | decreases expression | 1 |
| bisphenol A | decreases expression | 1 |
| 2,2’-methylenebis(4-methyl-6-tert-butylphenol) | affects expression, affects response to substance | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| K 7174 | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Dasatinib | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Niclosamide | decreases expression | 1 |
| Oxygen | decreases expression | 1 |
| Quercetin | increases expression | 1 |
| Testosterone | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Oxyquinoline | decreases expression | 1 |
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.