GGT7
gene geneOn this page
Also known as D20S101dJ18C9.2
Summary
GGT7 (gamma-glutamyltransferase 7, HGNC:4259) is a protein-coding gene on chromosome 20q11.22, encoding Glutathione hydrolase 7 (Q9UJ14). Hydrolyzes and transfers gamma-glutamyl moieties from glutathione and other gamma-glutamyl compounds to acceptors.
This gene is a member of a gene family that encodes enzymes involved in both the metabolism of glutathione and in the transpeptidation of amino acids. Changes in the activity of gamma-glutamyltransferase may signal preneoplastic or toxic conditions in the liver or kidney. The protein encoded by this gene consists of a heavy and a light chain, and it can interact with CT120, a plasma membrane-associated protein that is possibly involved in lung carcinogenesis.
Source: NCBI Gene 2686 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 103 total
- Druggable target: yes
- MANE Select transcript:
NM_178026
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4259 |
| Approved symbol | GGT7 |
| Name | gamma-glutamyltransferase 7 |
| Location | 20q11.22 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | D20S101, dJ18C9.2 |
| Ensembl gene | ENSG00000131067 |
| Ensembl biotype | protein_coding |
| OMIM | 612342 |
| Entrez | 2686 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 13 protein_coding, 1 nonsense_mediated_decay
ENST00000336431, ENST00000427420, ENST00000469018, ENST00000470952, ENST00000885988, ENST00000885989, ENST00000885990, ENST00000885991, ENST00000885992, ENST00000885993, ENST00000885994, ENST00000916019, ENST00000916020, ENST00000916021
RefSeq mRNA: 2 — MANE Select: NM_178026
NM_001351702, NM_178026
CCDS: CCDS13242
Canonical transcript exons
ENST00000336431 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001630039 | 34859969 | 34860042 |
| ENSE00001652470 | 34863313 | 34863548 |
| ENSE00001663829 | 34860254 | 34860321 |
| ENSE00001712832 | 34844720 | 34845491 |
| ENSE00001715119 | 34854531 | 34854619 |
| ENSE00001722304 | 34852389 | 34852538 |
| ENSE00001737341 | 34859443 | 34859639 |
| ENSE00001764330 | 34856806 | 34856893 |
| ENSE00001791460 | 34861445 | 34861562 |
| ENSE00001806527 | 34854796 | 34854923 |
| ENSE00001919755 | 34872647 | 34872856 |
| ENSE00003560714 | 34849961 | 34850060 |
| ENSE00003626044 | 34852155 | 34852272 |
| ENSE00003688917 | 34851231 | 34851368 |
| ENSE00003785877 | 34862814 | 34862965 |
Expression profiles
Bgee: expression breadth ubiquitous, 228 present calls, max score 97.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.0935 / max 109.0096, expressed in 1650 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187007 | 8.4271 | 1638 |
| 187008 | 0.5802 | 316 |
| 187005 | 0.0624 | 11 |
| 187006 | 0.0238 | 8 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 97.44 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.34 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.20 | gold quality |
| cerebellum | UBERON:0002037 | 96.25 | gold quality |
| adenohypophysis | UBERON:0002196 | 96.19 | gold quality |
| apex of heart | UBERON:0002098 | 95.71 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.61 | gold quality |
| pituitary gland | UBERON:0000007 | 95.15 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.71 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 94.69 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.15 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.84 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.33 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.25 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 93.11 | gold quality |
| body of pancreas | UBERON:0001150 | 93.04 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 92.91 | gold quality |
| thyroid gland | UBERON:0002046 | 92.89 | gold quality |
| metanephros cortex | UBERON:0010533 | 92.81 | gold quality |
| muscle of leg | UBERON:0001383 | 92.80 | gold quality |
| hypothalamus | UBERON:0001898 | 92.68 | gold quality |
| body of stomach | UBERON:0001161 | 92.58 | gold quality |
| right uterine tube | UBERON:0001302 | 92.51 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 92.43 | silver quality |
| right coronary artery | UBERON:0001625 | 92.32 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.22 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.16 | gold quality |
| right ovary | UBERON:0002118 | 92.10 | gold quality |
| ascending aorta | UBERON:0001496 | 92.06 | gold quality |
| thoracic aorta | UBERON:0001515 | 92.03 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.55 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
53 targeting GGT7, 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-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-204-5P | 99.79 | 71.62 | 2439 |
| HSA-MIR-211-5P | 99.79 | 71.65 | 2440 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-4446-5P | 99.72 | 69.19 | 2544 |
| HSA-MIR-1296-3P | 99.72 | 64.04 | 636 |
| HSA-MIR-4755-5P | 99.71 | 70.34 | 2716 |
| HSA-MIR-5006-3P | 99.71 | 70.26 | 2728 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-671-5P | 99.52 | 67.11 | 1277 |
| HSA-MIR-4708-3P | 99.51 | 67.99 | 870 |
| HSA-MIR-125A-5P | 99.36 | 70.59 | 1640 |
| HSA-MIR-125B-5P | 99.36 | 70.36 | 1662 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
| HSA-MIR-5787 | 99.22 | 67.86 | 2628 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-6506-5P | 99.04 | 65.66 | 1386 |
| HSA-MIR-622 | 98.99 | 66.48 | 1050 |
| HSA-MIR-6770-5P | 98.97 | 66.76 | 1853 |
| HSA-MIR-6871-5P | 98.90 | 66.67 | 671 |
Literature-anchored findings (GeneRIF, showing 5)
- GGTL3 protein interacts with CT120, a plasma membrane-associated protein possibly involved in lung carcinogenesis. (PMID:12270127)
- Our study demonstrates that GGT7 is a novel player in GBM growth and that GGT7 can play a critical role in tumorigenesis by regulating anti-oxidative damage. (PMID:25884624)
- A genome-wide association study identifies novel association between genetic variants in GGT7 and LINC00944 and hypertension. (PMID:34047475)
- [The role of polymorphic variants rs11546155 and rs6119534 of the GGT7 gene and risk factors in the development of acute pancreatitis]. (PMID:35596634)
- Gamma-glutamyltransferase 7 suppresses gastric cancer by cooperating with RAB7 to induce mitophagy. (PMID:35662282)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | GGT7 | ENSDARG00000115805 |
| mus_musculus | Ggt7 | ENSMUSG00000027603 |
| rattus_norvegicus | Ggt7 | ENSRNOG00000018441 |
| drosophila_melanogaster | CG17636 | FBGN0025837 |
| drosophila_melanogaster | Ggt-1 | FBGN0030932 |
Paralogs (6): GGT5 (ENSG00000099998), GGT1 (ENSG00000100031), GGTLC2 (ENSG00000100121), GGTLC1 (ENSG00000149435), GGT6 (ENSG00000167741), GGTLC3 (ENSG00000274252)
Protein
Protein identifiers
Glutathione hydrolase 7 — Q9UJ14 (reviewed: Q9UJ14)
Alternative names: Gamma-glutamyltransferase 7, Gamma-glutamyltransferase-like 3, Gamma-glutamyltransferase-like 5, Gamma-glutamyltranspeptidase 7
All UniProt accessions (4): Q9UJ14, A0A0D9SF08, A0A0D9SFH0, A2A2G5
UniProt curated annotations — full annotation on UniProt →
Function. Hydrolyzes and transfers gamma-glutamyl moieties from glutathione and other gamma-glutamyl compounds to acceptors.
Subunit / interactions. Interacts with TLCD3A. Heterodimer composed of the light and heavy chains. The active site is located in the light chain.
Subcellular location. Membrane.
Tissue specificity. Widely expressed, but at low level, except in the airway epithelial cells. Detected in brain, heart, kidney, liver, lung, spleen, testis and trachea.
Post-translational modifications. Cleaved by autocatalysis into a large and a small subunit and the autocatalytic cleavage is essential to the functional activation of the enzyme.
Pathway. Sulfur metabolism; glutathione metabolism.
Similarity. Belongs to the gamma-glutamyltransferase family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UJ14-1 | 1, a | yes |
| Q9UJ14-4 | 2 | |
| Q9UJ14-5 | 3, GGTL3B, B | |
| Q9UJ14-6 | 4 |
RefSeq proteins (2): NP_001338631, NP_821158* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000101 | GGT_peptidase | Family |
| IPR029055 | Ntn_hydrolases_N | Homologous_superfamily |
| IPR043137 | GGT_ssub_C | Homologous_superfamily |
| IPR043138 | GGT_lsub | Homologous_superfamily |
Pfam: PF01019
Catalyzed reactions (Rhea), 3 shown:
- an N-terminal (5-L-glutamyl)-[peptide] + an alpha-amino acid = 5-L-glutamyl amino acid + an N-terminal L-alpha-aminoacyl-[peptide] (RHEA:23904)
- glutathione + H2O = L-cysteinylglycine + L-glutamate (RHEA:28807)
- an S-substituted glutathione + H2O = an S-substituted L-cysteinylglycine + L-glutamate (RHEA:59468)
UniProt features (30 total): glycosylation site 10, splice variant 8, modified residue 4, chain 2, topological domain 2, sequence conflict 1, transmembrane region 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UJ14-F1 | 85.00 | 0.72 |
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): 83, 17, 72, 79
Glycosylation sites (10): 198, 267, 283, 330, 353, 394, 452, 519, 523, 586
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-174403 | Glutathione synthesis and recycling |
| R-HSA-5423646 | Aflatoxin activation and detoxification |
| R-HSA-9753281 | Paracetamol ADME |
MSigDB gene sets: 146 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, REACTOME_BIOLOGICAL_OXIDATIONS, NIKOLSKY_BREAST_CANCER_20Q11_AMPLICON, GOBP_MODIFIED_AMINO_ACID_CATABOLIC_PROCESS, DARWICHE_PAPILLOMA_PROGRESSION_RISK, GOBP_NEGATIVE_REGULATION_OF_RESPONSE_TO_OXIDATIVE_STRESS, GOBP_LEUKOTRIENE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_PEPTIDE_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_SULFUR_COMPOUND_CATABOLIC_PROCESS, KEGG_TAURINE_AND_HYPOTAURINE_METABOLISM, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_NONRIBOSOMAL_PEPTIDE_BIOSYNTHETIC_PROCESS
GO Biological Process (5): glutathione biosynthetic process (GO:0006750), glutathione catabolic process (GO:0006751), leukotriene D4 biosynthetic process (GO:1901750), negative regulation of response to oxidative stress (GO:1902883), glutathione metabolic process (GO:0006749)
GO Molecular Function (6): glutathione gamma-glutamate hydrolase (GO:0036374), obsolete leukotriene C4 gamma-glutamyl transferase activity (GO:0103068), protein binding (GO:0005515), transferase activity (GO:0016740), acyltransferase activity (GO:0016746), hydrolase activity (GO:0016787)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Glutathione conjugation | 1 |
| Biological oxidations | 1 |
| Drug ADME | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| glutathione metabolic process | 2 |
| sulfur compound biosynthetic process | 2 |
| catalytic activity | 2 |
| nonribosomal peptide biosynthetic process | 1 |
| modified amino acid biosynthetic process | 1 |
| modified amino acid catabolic process | 1 |
| sulfur compound catabolic process | 1 |
| leukotriene biosynthetic process | 1 |
| fatty acid derivative biosynthetic process | 1 |
| response to oxidative stress | 1 |
| negative regulation of response to stimulus | 1 |
| regulation of response to oxidative stress | 1 |
| modified amino acid metabolic process | 1 |
| sulfur compound metabolic process | 1 |
| omega peptidase activity | 1 |
| threonine-type peptidase activity | 1 |
| binding | 1 |
| transferase activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1046 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GGT7 | TLCD3A | Q8TBR7 | 927 |
| GGT7 | ALPG | P10696 | 767 |
| GGT7 | GOT1L1 | Q8NHS2 | 710 |
| GGT7 | SLC3A2 | P08195 | 671 |
| GGT7 | ALPI | P09923 | 657 |
| GGT7 | GOT1 | P17174 | 656 |
| GGT7 | ALPP | P05187 | 651 |
| GGT7 | LDHAL6B | Q9BYZ2 | 626 |
| GGT7 | NPEPPS | P55786 | 626 |
| GGT7 | LDHAL6A | Q6ZMR3 | 624 |
| GGT7 | LDHC | P07864 | 607 |
| GGT7 | ALPL | P05186 | 591 |
| GGT7 | GPT | P24298 | 508 |
| GGT7 | GOT2 | P00505 | 503 |
| GGT7 | SACK1C | Q9BQN1 | 496 |
IntAct
145 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GGT7 | LHFPL5 | psi-mi:“MI:0915”(physical association) | 0.890 |
| LHFPL5 | GGT7 | psi-mi:“MI:0915”(physical association) | 0.890 |
| TUSC3 | RPN2 | psi-mi:“MI:0914”(association) | 0.730 |
| GGT7 | GPR25 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GGT7 | MALL | psi-mi:“MI:0915”(physical association) | 0.720 |
| GGT7 | TMEM242 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TMEM242 | GGT7 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MALL | GGT7 | psi-mi:“MI:0915”(physical association) | 0.720 |
| GPR25 | GGT7 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| IFT27 | IFT56 | psi-mi:“MI:0914”(association) | 0.690 |
| LNPEP | GGT7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLDN19 | GGT7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35A4 | GGT7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TSPO2 | GGT7 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (169): GPR25 (Two-hybrid), MALL (Two-hybrid), LHFPL5 (Two-hybrid), TMEM242 (Two-hybrid), GGT7 (Two-hybrid), NAALAD2 (Affinity Capture-MS), GGT7 (Affinity Capture-MS), PIGB (Affinity Capture-MS), GGT7 (Affinity Capture-MS), ALG12 (Affinity Capture-MS), GGT7 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), MANEA (Affinity Capture-MS), POMT1 (Affinity Capture-MS), FAM69A (Affinity Capture-MS)
ESM2 similar proteins: A6NGU5, B5MD39, B6EWW8, D4B387, F8S0Z7, O35409, O77564, P07314, P07686, P0DPU3, P0DPU6, P15693, P17439, P19111, P19440, P20735, P21588, P24822, P24823, P36268, P36269, P49614, P58242, P70627, Q04609, Q05927, Q0V8L2, Q14390, Q29548, Q2KHZ8, Q501L1, Q5RFI5, Q5RFU0, Q5TYS5, Q5XIG6, Q60928, Q680I5, Q68FH4, Q6DH69, Q6GMR7
Diamond homologs: A6NGU5, B5MD39, B8NM71, D4B387, O14194, P07314, P0DPU3, P0DPU6, P18956, P19440, P20735, P36267, P36268, P36269, P54422, P63186, Q05902, Q0V8L2, Q14390, Q60928, Q680I5, Q8VYW6, Q99JP7, Q99MZ4, Q9BX51, Q9CAR5, Q9I406, Q9M0G0, Q9QWE9, Q9UJ14, Q9US04, Q9Z2A9, A7YWM1, Q6IE08, Q6P531, Q6PDE7, P15557, Q05053, Q51693, A6T9C8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
103 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 90 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3034 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:34849959:A:AC | donor_gain | 1.0000 |
| 20:34849960:C:CT | donor_gain | 1.0000 |
| 20:34852269:GGAG:G | acceptor_gain | 1.0000 |
| 20:34852273:C:CC | acceptor_gain | 1.0000 |
| 20:34852392:A:C | donor_gain | 1.0000 |
| 20:34852535:CTTG:C | acceptor_gain | 1.0000 |
| 20:34852536:TTG:T | acceptor_gain | 1.0000 |
| 20:34852537:TG:T | acceptor_gain | 1.0000 |
| 20:34852539:C:CC | acceptor_gain | 1.0000 |
| 20:34854526:CCCA:C | donor_loss | 1.0000 |
| 20:34854527:CCAC:C | donor_loss | 1.0000 |
| 20:34854528:CA:C | donor_loss | 1.0000 |
| 20:34854529:A:AT | donor_loss | 1.0000 |
| 20:34854530:C:CA | donor_loss | 1.0000 |
| 20:34854617:GGT:G | acceptor_gain | 1.0000 |
| 20:34854618:GT:G | acceptor_gain | 1.0000 |
| 20:34854618:GTCT:G | acceptor_loss | 1.0000 |
| 20:34854619:TC:T | acceptor_loss | 1.0000 |
| 20:34854620:C:CC | acceptor_gain | 1.0000 |
| 20:34854621:T:G | acceptor_loss | 1.0000 |
| 20:34854626:A:C | acceptor_gain | 1.0000 |
| 20:34854630:A:T | acceptor_gain | 1.0000 |
| 20:34854790:CCTTA:C | donor_loss | 1.0000 |
| 20:34854791:CTTA:C | donor_loss | 1.0000 |
| 20:34854792:TTACC:T | donor_loss | 1.0000 |
| 20:34854793:TA:T | donor_loss | 1.0000 |
| 20:34854795:C:T | donor_loss | 1.0000 |
| 20:34854795:CCT:C | donor_gain | 1.0000 |
| 20:34859439:TTAC:T | donor_loss | 1.0000 |
| 20:34859440:TA:T | donor_loss | 1.0000 |
AlphaMissense
4262 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:34863365:G:T | A118D | 0.999 |
| 20:34863378:A:G | C114R | 0.999 |
| 20:34863356:A:T | V121D | 0.998 |
| 20:34863359:C:T | G120D | 0.998 |
| 20:34863360:C:G | G120R | 0.998 |
| 20:34863380:G:T | A113D | 0.998 |
| 20:34863347:G:T | A124E | 0.997 |
| 20:34850016:G:C | S590R | 0.996 |
| 20:34850016:G:T | S590R | 0.996 |
| 20:34850018:T:G | S590R | 0.996 |
| 20:34863344:A:G | L125P | 0.996 |
| 20:34863366:C:G | A118P | 0.996 |
| 20:34863374:A:G | L115P | 0.996 |
| 20:34863386:A:T | V111D | 0.996 |
| 20:34863381:C:G | A113P | 0.995 |
| 20:34863389:A:T | I110N | 0.995 |
| 20:34852215:G:C | N509K | 0.994 |
| 20:34852215:G:T | N509K | 0.994 |
| 20:34852216:T:A | N509I | 0.993 |
| 20:34852420:C:G | G480R | 0.993 |
| 20:34852420:C:T | G480R | 0.993 |
| 20:34862852:A:C | C173W | 0.993 |
| 20:34862854:A:G | C173R | 0.993 |
| 20:34862924:G:C | C149W | 0.993 |
| 20:34863341:A:T | V126D | 0.993 |
| 20:34863367:G:C | F117L | 0.993 |
| 20:34863367:G:T | F117L | 0.993 |
| 20:34863369:A:G | F117L | 0.993 |
| 20:34872747:G:C | S23R | 0.993 |
| 20:34872747:G:T | S23R | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000027101 (20:34847434 C>T), RS1000196567 (20:34873296 C>T), RS1000461529 (20:34862726 T>A), RS1000495779 (20:34854359 T>A,C), RS1000717154 (20:34868146 G>A), RS1000843929 (20:34868664 T>A), RS1001025822 (20:34845667 G>A), RS1001133368 (20:34853484 C>G), RS1001170363 (20:34862357 A>G), RS1001348652 (20:34860503 A>G), RS1001389294 (20:34862009 T>C), RS1001390807 (20:34871766 C>T), RS1001587997 (20:34849202 A>G), RS1001630875 (20:34863821 A>G), RS1001699045 (20:34848935 C>G)
Disease associations
OMIM: gene MIM:612342 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005194_135 | Coronary artery disease | 2.000000e-07 |
| GCST005956_31 | Waist-to-hip ratio adjusted for BMI | 8.000000e-08 |
| GCST005958_16 | Waist-to-hip ratio adjusted for BMI (age >50) | 6.000000e-06 |
| GCST005962_40 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 3.000000e-08 |
| GCST008103_149 | Bipolar disorder | 3.000000e-06 |
| GCST008747_91 | Estimated glomerular filtration rate | 2.000000e-19 |
| GCST010142_10 | Fish- and plant-related diet | 8.000000e-12 |
| GCST012227_1088 | Hip circumference adjusted for BMI | 4.000000e-18 |
| GCST90002406_551 | Reticulocyte fraction of red cells | 2.000000e-14 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0008111 | diet measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5465368 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol S | affects cotreatment, increases methylation, decreases expression | 2 |
| Aflatoxin B1 | decreases methylation | 2 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| bismuth tripotassium dicitrate | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| potassium perchlorate | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression, decreases expression | 1 |
| Isoniazid | increases expression | 1 |
| Polychlorinated Biphenyls | affects expression | 1 |
| Smoke | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | decreases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression, decreases expression | 1 |
| Gold Compounds | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5338439 | Binding | Binding affinity to Ggt7 (unknown origin) at 200 uM preincubated for 2 hrs followed by pronase addition and measured after 30 mins by coomassie blue staining based SDS-PAGE gel analysis | Structurally Diverse Alkaloids with Anti-Renal-Fibrosis Activity from the Centipede Scolopendra subspinipes mutilans. — J Nat Prod |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SP97 | HAP1 GGT7 (-) | Cancer cell line | Male |
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.