GNG13
gene geneOn this page
Also known as h2-35G(gamma)13
Summary
GNG13 (G protein subunit gamma 13, HGNC:14131) is a protein-coding gene on chromosome 16p13.3, encoding Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13 (Q9P2W3). Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems.
Heterotrimeric G proteins, which consist of alpha (see MIM 139320), beta (see MIM 139380), and gamma subunits, function as signal transducers for the 7-transmembrane-helix G protein-coupled receptors. GNG13 is a gamma subunit that is expressed in taste, retinal, and neuronal tissues and plays a key role in taste transduction (Li et al., 2006 [PubMed 16473877]).
Source: NCBI Gene 51764 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 18 total
- MANE Select transcript:
NM_016541
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14131 |
| Approved symbol | GNG13 |
| Name | G protein subunit gamma 13 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | h2-35, G(gamma)13 |
| Ensembl gene | ENSG00000127588 |
| Ensembl biotype | protein_coding |
| OMIM | 607298 |
| Entrez | 51764 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000248150, ENST00000851007, ENST00000851008
RefSeq mRNA: 1 — MANE Select: NM_016541
NM_016541
CCDS: CCDS10427
Canonical transcript exons
ENST00000248150 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000873984 | 798041 | 798824 |
| ENSE00000873985 | 798980 | 799111 |
| ENSE00001367900 | 800666 | 800734 |
Expression profiles
Bgee: expression breadth broad, 85 present calls, max score 94.05.
FANTOM5 (CAGE): breadth broad, TPM avg 1.5000 / max 474.8632, expressed in 200 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155788 | 1.3623 | 186 |
| 155787 | 0.0865 | 17 |
| 155789 | 0.0511 | 26 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 94.05 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.32 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.28 | gold quality |
| cerebellum | UBERON:0002037 | 88.60 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 86.30 | gold quality |
| right frontal lobe | UBERON:0002810 | 86.12 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.52 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 80.21 | gold quality |
| cingulate cortex | UBERON:0003027 | 80.08 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 76.97 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 76.92 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 76.33 | gold quality |
| neocortex | UBERON:0001950 | 73.22 | gold quality |
| frontal cortex | UBERON:0001870 | 73.11 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 72.80 | silver quality |
| prefrontal cortex | UBERON:0000451 | 71.89 | gold quality |
| cerebral cortex | UBERON:0000956 | 68.39 | gold quality |
| primary visual cortex | UBERON:0002436 | 67.37 | gold quality |
| endothelial cell | CL:0000115 | 66.62 | gold quality |
| brain | UBERON:0000955 | 62.56 | gold quality |
| amygdala | UBERON:0001876 | 62.01 | gold quality |
| telencephalon | UBERON:0001893 | 61.67 | gold quality |
| hypothalamus | UBERON:0001898 | 61.63 | gold quality |
| occipital lobe | UBERON:0002021 | 61.56 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 60.94 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 60.70 | gold quality |
| cerebellar vermis | UBERON:0004720 | 60.43 | silver quality |
| superior frontal gyrus | UBERON:0002661 | 59.75 | gold quality |
| forebrain | UBERON:0001890 | 59.60 | gold quality |
| spinal cord | UBERON:0002240 | 59.02 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 3226.67 |
| E-MTAB-9906 | yes | 1750.88 |
| E-MTAB-11121 | yes | 1185.65 |
| E-MTAB-8410 | yes | 4.15 |
| E-ANND-3 | no | 0.86 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
58 targeting GNG13, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-1296-3P | 99.72 | 64.04 | 636 |
| HSA-MIR-6848-3P | 99.64 | 66.49 | 885 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4437 | 99.52 | 65.29 | 1266 |
| HSA-MIR-4489 | 99.50 | 65.56 | 785 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-2392 | 99.43 | 67.50 | 708 |
| HSA-MIR-4284 | 99.36 | 65.25 | 1293 |
| HSA-MIR-128-1-5P | 99.33 | 60.46 | 332 |
| HSA-MIR-128-2-5P | 99.33 | 60.83 | 311 |
| HSA-MIR-504-3P | 99.30 | 67.18 | 1745 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-6843-3P | 99.26 | 66.42 | 915 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-3199 | 99.17 | 65.19 | 696 |
| HSA-MIR-8052 | 99.17 | 65.01 | 719 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-1228-3P | 99.00 | 66.53 | 857 |
Literature-anchored findings (GeneRIF, showing 3)
- Ggamma13 interacts with PDZ domain-containing proteins (PMID:16473877)
- GNG13 Is a Potential Marker of the State of Health of Alzheimer’s Disease Patients’ Cerebellum. (PMID:33057964)
- High GNG13 expression is associated with poor survival in epithelial ovarian cancer and breast cancer. (PMID:34734529)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gng13b | ENSDARG00000037921 |
| mus_musculus | Gng13 | ENSMUSG00000025739 |
| rattus_norvegicus | Gng13 | ENSRNOG00000039350 |
| caenorhabditis_elegans | gpc-2 | WBGENE00001682 |
Protein
Protein identifiers
Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-13 — Q9P2W3 (reviewed: Q9P2W3)
All UniProt accessions (1): Q9P2W3
UniProt curated annotations — full annotation on UniProt →
Function. Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.
Subunit / interactions. G proteins are composed of 3 units, alpha, beta and gamma.
Subcellular location. Cell membrane.
Similarity. Belongs to the G protein gamma family.
RefSeq proteins (1): NP_057625* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001770 | G-protein_gamma | Family |
| IPR015898 | G-protein_gamma-like_dom | Domain |
| IPR036284 | GGL_sf | Homologous_superfamily |
| IPR039227 | GNG13 | Family |
Pfam: PF00631
UniProt features (4 total): chain 1, propeptide 1, modified residue 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9M8K | ELECTRON MICROSCOPY | 3 |
| 9M8L | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P2W3-F1 | 88.95 | 0.61 |
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): 64, 64
Function
Pathways and Gene Ontology
Reactome pathways
32 pathways
| ID | Pathway |
|---|---|
| R-HSA-1296041 | Activation of G protein gated Potassium channels |
| R-HSA-163359 | Glucagon signaling in metabolic regulation |
| R-HSA-202040 | G-protein activation |
| R-HSA-381676 | Glucagon-like Peptide-1 (GLP1) regulates insulin secretion |
| R-HSA-381753 | Olfactory Signaling Pathway |
| R-HSA-381771 | Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) |
| R-HSA-392170 | ADP signalling through P2Y purinoceptor 12 |
| R-HSA-392451 | G beta:gamma signalling through PI3Kgamma |
| R-HSA-392851 | Prostacyclin signalling through prostacyclin receptor |
| R-HSA-400042 | Adrenaline,noradrenaline inhibits insulin secretion |
| R-HSA-4086398 | Ca2+ pathway |
| R-HSA-416476 | G alpha (q) signalling events |
| R-HSA-416482 | G alpha (12/13) signalling events |
| R-HSA-418217 | G beta:gamma signalling through PLC beta |
| R-HSA-418555 | G alpha (s) signalling events |
| R-HSA-418592 | ADP signalling through P2Y purinoceptor 1 |
| R-HSA-418594 | G alpha (i) signalling events |
| R-HSA-418597 | G alpha (z) signalling events |
| R-HSA-420092 | Glucagon-type ligand receptors |
| R-HSA-428930 | Thromboxane signalling through TP receptor |
| R-HSA-432040 | Vasopressin regulates renal water homeostasis via Aquaporins |
| R-HSA-456926 | Thrombin signalling through proteinase activated receptors (PARs) |
| R-HSA-500657 | Presynaptic function of Kainate receptors |
| R-HSA-6814122 | Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding |
| R-HSA-8964315 | G beta:gamma signalling through BTK |
| R-HSA-8964616 | G beta:gamma signalling through CDC42 |
| R-HSA-9009391 | Extra-nuclear estrogen signaling |
| R-HSA-9634597 | GPER1 signaling |
| R-HSA-9660821 | ADORA2B mediated anti-inflammatory cytokines production |
| R-HSA-9717207 | Sensory perception of sweet, bitter, and umami (glutamate) taste |
MSigDB gene sets: 170 (showing top):
REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS, REACTOME_ADRENALINE_NORADRENALINE_INHIBITS_INSULIN_SECRETION, REACTOME_POTASSIUM_CHANNELS, REACTOME_INWARDLY_RECTIFYING_K_CHANNELS, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, REACTOME_G_ALPHA_Z_SIGNALLING_EVENTS, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, REACTOME_GLUCAGON_SIGNALING_IN_METABOLIC_REGULATION, GOBP_SENSORY_PERCEPTION_OF_TASTE, SMID_BREAST_CANCER_LUMINAL_B_UP, REACTOME_G_PROTEIN_ACTIVATION, REACTOME_G_BETA_GAMMA_SIGNALLING_THROUGH_PI3KGAMMA, REACTOME_G_PROTEIN_BETA_GAMMA_SIGNALLING, GOBP_SENSORY_PERCEPTION
GO Biological Process (4): G protein-coupled receptor signaling pathway (GO:0007186), phospholipase C-activating G protein-coupled receptor signaling pathway (GO:0007200), sensory perception of taste (GO:0050909), signal transduction (GO:0007165)
GO Molecular Function (2): G-protein beta-subunit binding (GO:0031681), protein binding (GO:0005515)
GO Cellular Component (5): heterotrimeric G-protein complex (GO:0005834), plasma membrane (GO:0005886), dendrite (GO:0030425), synapse (GO:0045202), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-12 pathways:
| Category | Pathways |
|---|---|
| GPCR downstream signalling | 5 |
| Signal amplification | 3 |
| Regulation of insulin secretion | 2 |
| G-protein beta:gamma signalling | 2 |
| G protein gated Potassium channels | 1 |
| Integration of energy metabolism | 1 |
| Opioid Signalling | 1 |
| Sensory Perception | 1 |
| Incretin synthesis, secretion, and inactivation | 1 |
| Platelet homeostasis | 1 |
| Beta-catenin independent WNT signaling | 1 |
| Class B/2 (Secretin family receptors) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| phospholipase C activator activity | 1 |
| sensory perception of chemical stimulus | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| protein binding | 1 |
| binding | 1 |
| extrinsic component of cytoplasmic side of plasma membrane | 1 |
| plasma membrane protein complex | 1 |
| GTPase complex | 1 |
| membrane | 1 |
| cell periphery | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| cell junction | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2350 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GNG13 | GNB3 | P16520 | 918 |
| GNG13 | GNB1 | P04697 | 888 |
| GNG13 | GNG3 | P29798 | 873 |
| GNG13 | GNB4 | Q9HAV0 | 832 |
| GNG13 | GNGT2 | O14610 | 780 |
| GNG13 | GNGT1 | P63211 | 768 |
| GNG13 | GNG12 | Q9UBI6 | 766 |
| GNG13 | GNG10 | P50151 | 751 |
| GNG13 | GNG4 | P50150 | 716 |
| GNG13 | GNAT3 | A8MTJ3 | 705 |
| GNG13 | GNAL | P38405 | 692 |
| GNG13 | GNG2 | P59768 | 687 |
| GNG13 | PLCB2 | Q00722 | 678 |
| GNG13 | GRIK2 | Q13002 | 665 |
| GNG13 | GNAO1 | P09471 | 649 |
IntAct
104 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GNG13 | FTO | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNG13 | UQCC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PAX5 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CTAG1A | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT37 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DISC1 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM54 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEAD2 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEOX2 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RASSF10 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADAMTSL4 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT27 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT38 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP9-2 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GLRX3 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCHCR1 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT34 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNG13 | WASHC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLSCR2 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNG13 | EMILIN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BEX5 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPRM | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HOXA10 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HAUS3 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RSPO4 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FTO | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ABI3 | GNG13 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (41): GNG13 (Two-hybrid), GNG13 (Two-hybrid), GNG13 (Two-hybrid), GNG13 (Two-hybrid), GNG13 (Two-hybrid), GNG13 (Two-hybrid), GNG13 (Two-hybrid), KRT34 (Two-hybrid), UQCC2 (Two-hybrid), EMILIN1 (Two-hybrid), TRIM54 (Two-hybrid), FTO (Two-hybrid), ADAMTSL4 (Two-hybrid), DISC1 (Two-hybrid), PLSCR2 (Two-hybrid)
ESM2 similar proteins: A0A804HLA8, O14610, O60262, O97564, P02698, P30671, P38040, P43425, P50150, P50151, P50153, P50154, P54406, P59768, P61952, P61953, P61954, P63077, P63078, P63210, P63211, P63212, P63213, P63214, P63215, P63216, P63217, P63218, P63219, Q28024, Q4VT26, Q5E9F0, Q5R639, Q5R7U4, Q5RBQ0, Q5REH7, Q61012, Q61016, Q61017, Q6CPB4
Diamond homologs: O14610, O60262, O97564, P02698, P30671, P38040, P43425, P50150, P50151, P50153, P50154, P54406, P59768, P61952, P61953, P61954, P63210, P63211, P63212, P63213, P63214, P63215, P63216, Q28024, Q5E9F0, Q5R639, Q5R7U4, Q5RBQ0, Q61012, Q61016, Q61017, Q9CXP8, Q9DAS9, Q9NFZ2, Q9NFZ3, Q9P2W3, Q9UBI6, Q9UK08, Q9JMF3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 35 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 |
|---|---|---|---|
| ADORA2B mediated anti-inflammatory cytokines production | 5 | 63.4× | 4e-07 |
| GPER1 signaling | 5 | 62.1× | 4e-07 |
| G alpha (z) signalling events | 5 | 58.3× | 4e-07 |
| G alpha (s) signalling events | 5 | 18.3× | 3e-05 |
| Keratinization | 5 | 13.9× | 7e-05 |
| G alpha (i) signalling events | 5 | 9.7× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
18 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 18 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
508 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:798978:A:AC | donor_gain | 1.0000 |
| 16:798979:C:CC | donor_gain | 1.0000 |
| 16:798979:CT:C | donor_gain | 1.0000 |
| 16:798821:CAGC:C | acceptor_gain | 0.9900 |
| 16:798822:AGCC:A | acceptor_loss | 0.9900 |
| 16:798824:CCTGC:C | acceptor_loss | 0.9900 |
| 16:798825:C:CC | acceptor_gain | 0.9900 |
| 16:798825:C:T | acceptor_loss | 0.9900 |
| 16:798826:T:G | acceptor_loss | 0.9900 |
| 16:798971:GGCAC:G | donor_loss | 0.9900 |
| 16:798972:GCAC:G | donor_loss | 0.9900 |
| 16:798973:CACTC:C | donor_loss | 0.9900 |
| 16:798974:ACTC:A | donor_loss | 0.9900 |
| 16:798976:T:TC | donor_loss | 0.9900 |
| 16:798977:CACT:C | donor_loss | 0.9900 |
| 16:798978:A:C | donor_loss | 0.9900 |
| 16:798979:C:CA | donor_loss | 0.9900 |
| 16:798979:CTCG:C | donor_gain | 0.9900 |
| 16:799107:TGGGG:T | acceptor_gain | 0.9900 |
| 16:799108:GGGG:G | acceptor_gain | 0.9900 |
| 16:799110:GG:G | acceptor_gain | 0.9900 |
| 16:799112:C:CC | acceptor_gain | 0.9900 |
| 16:800661:CCTA:C | donor_loss | 0.9900 |
| 16:800662:CTAC:C | donor_loss | 0.9900 |
| 16:800663:TAC:T | donor_loss | 0.9900 |
| 16:800665:CCTTG:C | donor_loss | 0.9900 |
| 16:798823:GC:G | acceptor_gain | 0.9800 |
| 16:798824:CC:C | acceptor_gain | 0.9800 |
| 16:798978:ACT:A | donor_gain | 0.9800 |
| 16:798979:CTC:C | donor_gain | 0.9800 |
AlphaMissense
446 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:798751:A:G | W58R | 0.996 |
| 16:798751:A:T | W58R | 0.996 |
| 16:798749:C:A | W58C | 0.993 |
| 16:798749:C:G | W58C | 0.993 |
| 16:799031:A:G | L16P | 0.992 |
| 16:798755:G:C | N56K | 0.991 |
| 16:798755:G:T | N56K | 0.991 |
| 16:798822:A:G | L34P | 0.983 |
| 16:798750:C:G | W58S | 0.982 |
| 16:799019:A:G | L20P | 0.981 |
| 16:798733:A:G | C64R | 0.978 |
| 16:798780:A:G | L48P | 0.977 |
| 16:798790:C:G | D45H | 0.976 |
| 16:798731:G:C | C64W | 0.969 |
| 16:799033:G:C | S15R | 0.969 |
| 16:799033:G:T | S15R | 0.969 |
| 16:799035:T:G | S15R | 0.969 |
| 16:798789:T:G | D45A | 0.968 |
| 16:799007:C:G | R24P | 0.968 |
| 16:798732:C:G | C64S | 0.967 |
| 16:798733:A:T | C64S | 0.967 |
| 16:798783:A:G | F47S | 0.967 |
| 16:798751:A:C | W58G | 0.965 |
| 16:798789:T:C | D45G | 0.965 |
| 16:798757:T:C | N56D | 0.963 |
| 16:798789:T:A | D45V | 0.962 |
| 16:799007:C:A | R24L | 0.961 |
| 16:799031:A:T | L16H | 0.961 |
| 16:798788:G:C | D45E | 0.960 |
| 16:798788:G:T | D45E | 0.960 |
dbSNP variants (sampled 300 via entrez): RS1000512492 (16:800254 T>A,C), RS1000968959 (16:798515 C>A,G,T), RS1001968399 (16:800128 T>G), RS1002035161 (16:799276 G>A,T), RS1002647091 (16:800683 G>A), RS1002698044 (16:800562 C>T), RS1002968228 (16:799210 A>G), RS1003948879 (16:797588 G>A,T), RS1004521249 (16:798954 G>A), RS1004980289 (16:801354 G>T), RS1005306988 (16:799609 T>C), RS1006323536 (16:800642 C>G,T), RS1006353338 (16:800715 A>C,G), RS1006967320 (16:801034 A>G), RS1007658016 (16:800414 G>A)
Disease associations
OMIM: gene MIM:607298 | 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 |
|---|---|---|
| GCST009391_719 | Metabolite levels | 5.000000e-06 |
| GCST90002390_646 | Mean corpuscular hemoglobin | 3.000000e-14 |
| GCST90002396_574 | Mean reticulocyte volume | 6.000000e-20 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010532 | salicylurate measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0010701 | mean reticulocyte volume |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Particulate Matter | affects methylation, increases abundance, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| perfluorohexanesulfonic acid | increases expression | 1 |
| licochalcone B | increases expression | 1 |
| jinfukang | increases expression | 1 |
| Air Pollutants | affects methylation, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Chelating Agents | decreases expression, affects binding | 1 |
| Copper | affects binding, decreases expression | 1 |
| Nitrogen Dioxide | affects methylation, increases abundance | 1 |
| Phthalic Acids | increases methylation | 1 |
| Valproic Acid | increases methylation | 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.