GPT
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Also known as ALT1ALTGPT1SGPT
Summary
GPT (glutamic–pyruvic transaminase, HGNC:4552) is a protein-coding gene on chromosome 8q24.3, encoding Alanine aminotransferase 1 (P24298). Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate.
This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.
Source: NCBI Gene 2875 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 124 total
- Druggable target: yes
- MANE Select transcript:
NM_005309
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4552 |
| Approved symbol | GPT |
| Name | glutamic–pyruvic transaminase |
| Location | 8q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ALT1, ALT, GPT1, SGPT |
| Ensembl gene | ENSG00000167701 |
| Ensembl biotype | protein_coding |
| OMIM | 138200 |
| Entrez | 2875 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 23 protein_coding, 5 retained_intron
ENST00000354769, ENST00000394955, ENST00000527165, ENST00000527961, ENST00000528431, ENST00000531330, ENST00000534702, ENST00000894967, ENST00000894968, ENST00000894969, ENST00000894970, ENST00000894971, ENST00000894972, ENST00000894973, ENST00000894974, ENST00000894975, ENST00000894976, ENST00000894977, ENST00000894978, ENST00000894979, ENST00000894980, ENST00000894981, ENST00000894982, ENST00000894983, ENST00000961468, ENST00000961469, ENST00000961470, ENST00000961471
RefSeq mRNA: 3 — MANE Select: NM_005309
NM_001382664, NM_001382665, NM_005309
CCDS: CCDS6430
Canonical transcript exons
ENST00000394955 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001427932 | 144506910 | 144507172 |
| ENSE00003536283 | 144504771 | 144504879 |
| ENSE00003601691 | 144504998 | 144505131 |
| ENSE00003609968 | 144504604 | 144504693 |
| ENSE00003689844 | 144505246 | 144505489 |
| ENSE00003889360 | 144504140 | 144504466 |
| ENSE00003891056 | 144506731 | 144506843 |
| ENSE00003893144 | 144505995 | 144506131 |
| ENSE00003894316 | 144506232 | 144506406 |
| ENSE00003894492 | 144505848 | 144505927 |
| ENSE00003894860 | 144506501 | 144506656 |
Expression profiles
Bgee: expression breadth ubiquitous, 183 present calls, max score 98.38.
FANTOM5 (CAGE): breadth broad, TPM avg 1.0948 / max 295.3872, expressed in 193 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 91523 | 1.0948 | 193 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 98.38 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.30 | gold quality |
| apex of heart | UBERON:0002098 | 97.00 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 95.71 | silver quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.31 | gold quality |
| pancreatic ductal cell | CL:0002079 | 91.95 | silver quality |
| transverse colon | UBERON:0001157 | 91.72 | gold quality |
| heart left ventricle | UBERON:0002084 | 91.20 | gold quality |
| gastrocnemius | UBERON:0001388 | 91.16 | gold quality |
| cardiac ventricle | UBERON:0002082 | 90.36 | gold quality |
| liver | UBERON:0002107 | 90.12 | gold quality |
| muscle of leg | UBERON:0001383 | 89.84 | gold quality |
| body of stomach | UBERON:0001161 | 86.54 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 86.30 | gold quality |
| skin of abdomen | UBERON:0001416 | 86.25 | gold quality |
| right atrium auricular region | UBERON:0006631 | 86.20 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 85.51 | gold quality |
| omental fat pad | UBERON:0010414 | 84.80 | gold quality |
| heart | UBERON:0000948 | 84.68 | gold quality |
| peritoneum | UBERON:0002358 | 84.68 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 84.60 | gold quality |
| skin of leg | UBERON:0001511 | 84.39 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 84.25 | silver quality |
| cerebellar hemisphere | UBERON:0002245 | 84.16 | gold quality |
| muscle organ | UBERON:0001630 | 83.93 | gold quality |
| cerebellar cortex | UBERON:0002129 | 83.84 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 83.82 | gold quality |
| body of pancreas | UBERON:0001150 | 83.62 | gold quality |
| small intestine | UBERON:0002108 | 83.33 | gold quality |
| cardiac atrium | UBERON:0002081 | 83.05 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.95 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AR, IRF1, MAX, MXD1, MYC, PPARA, ZNF160
Literature-anchored findings (GeneRIF, showing 40)
- Glucose intolerance is associated with elevated serum aminotransferase independent of obesity, but even a mildly elevated ALT is relatively uncommon in free-living men with glucose intolerance. (PMID:12480555)
- Histology of nonalcoholic fatty liver disease in individuals with normal ALT values, not significantly different from those with elevated ALT levels, and low normal value does not guarantee freedom from steatohepatitis with advanced fibrosis. (PMID:12774006)
- genotypes of aldehyde dehydrogenase 2 and beta3-adrenergic receptor were strongly associated with elevated alanine aminotransferase level which increased with the accumulation of components of metabolic syndrome (PMID:14506613)
- mildly elevated in severe acute respiratory syndrome patients during second week after onset of fever. (PMID:15306699)
- In coinfected Hic/hepatitis C patients, normal ALT levels are not an indicator of mild necroinflammation and may not portend a more benign disease course. (PMID:16652026)
- In obesity, elevated ALT activity is associated with increased fasting insulin suggesting that insulin resistance, rather than body mass index alone, plays a role in mediating the increased aminotransferase activity. (PMID:17134955)
- Provides a quantitative analysis of the main impact of the trauma of liver resection, liver ischemia, and other factors on the postoperative evolution of transaminases. (PMID:17378732)
- Insulin resistance in obese patients is associated with alanine aminotransferase activity. (PMID:17405346)
- Data show that OCT/ALT is a potent indicator for the diagnosis and the prognosis of hepatocellular carcinoma. (PMID:17570354)
- May serve as a useful marker for non-alcoholic fatty liver disease or diabetes risk in Filipino women. (PMID:17764776)
- Weight reduction secondary to a hypocaloric diet were associated with improvement in hypertransaminasemia and insulin resistance in nonalcoholic fatty liver disease. (PMID:17766001)
- PTLP activity is positively associated with serum ALT1, GOT1 and GOT2 in type 2 diabetes mellitus and metabolic syndrome. (PMID:17877759)
- In hepatitis C, alterations in the liver tissue as reflected by ALT elevation are mainly associated with periportal bridging/necrosis, viral load and duration of disease. (PMID:17907292)
- Abnormal serum aminotransferase values are uncommon in severely obese children in France. (PMID:17907318)
- Type 2 diabetic patients have 80% more liver fat than age-, weight-, and sex-matched nondiabetic subjects, which is underestimated in type 2 diabetics. (PMID:17934148)
- In obese patients with NAFLD (nonalcoholic fatty liver disease), OSA (obstructive sleep apnea) was associated with elevated alanine aminotransferase levels and a trend toward histologic evidence of progressive liver disease. (PMID:18090161)
- ALAT elevations associate with obesity and diabetes, and provide new evidence that in elderly male patients, ALAT elevations, absent other known liver diseases, may selectively associate with diabetes (PMID:18178283)
- Data revealed higher alanine aminotransferase for women with a family history of diabetes, when adjusted for age and BMI. (PMID:18242760)
- Raised ALT is common in apparently healthy British South Asians, and is significantly associated with an adverse metabolic and atherothrombotic risk profile. (PMID:18315552)
- Non-alcoholic fatty liver disease is the most common cause of persistently elevated serum alanine aminotransferase level among the general population of Iran. (PMID:18473412)
- Tag-free ALT1 and ALT2 were obtained by cleavage of enterokinase digestion and used for initial characterization of the enzymes. The specific ALT activity of purified fusion or His-tag-removed ALT1 was about 15-fold higher than that of ALT2 (PMID:18508279)
- Alanine aminotransferase, alanine/aspartate aminotransferase ratio, and gamma-glutamyl transferase are associated with the MetS but not with angiographically determined coronary atherosclerosis. (PMID:18708042)
- found a strong relationship between alanine aminotransferase levels and metabolic syndrome in metabolic syndrome (PMID:18763311)
- HEV markers (HEV RNA and anti-HEV) were detected in donors with elevated ALT levels who were widely distributed over Japan (PMID:18774966)
- Neither ALT nor GGT concentrations were correlated with ALP concentration, but AST concentration was moderately correlated with ALP concentration. (PMID:19012630)
- Serum levels are an independent risk factor for the development of type 2 diabetes mellitus in subjects without fatty liver or hepatic dysfunction. (PMID:19065605)
- In the US population, elevated gamma-glutamyltransferase (GGT) was associated with mortality from all causes, liver disease, cancer, and diabetes, while alanine aminotransferase (ALT) was associated only with liver disease mortality. (PMID:19100265)
- alanine aminotransferase may have a role in progression of cardiovascular disease and diabetes in Koreans (PMID:19159884)
- A high proportion of obese children present elevated ALT1 levels. (PMID:19217453)
- High ALT level and low platelet count are closely associated with the development of hepatocarcinogenesis in hepatitis C carrirs. who are thus candidates for antiviral agents. (PMID:19232448)
- approximately 60% of the variation in S-ALT, a marker of liver fat content, is genetically determined (PMID:19303161)
- A clinical method for selective measurement of ALT1 and 2 in human plasma is described. (PMID:19360321)
- Results suggest that alanine and aspartate aminotransferase levels and AST/ALT ratio do not seem to be reliable predictors for non-alcoholic steatohepatitis. (PMID:19370784)
- the management of patients with pyelonephritis should take into account that moderate and self-limited abnormalities in aminotransferase levels are frequent during the acute phase of the disease (PMID:19393479)
- All metabolic syndrome-related risk factors are significantly correlated with the increase in blood levels of alanine aminotransferase in a population of Japanese men and women. (PMID:19687577)
- Obesity and elevated ALT are associated with insulin resistance (PMID:19938201)
- elevation in GPT in obese children most likely reflects insulin resistance (PMID:20032584)
- No significant relationship between serum hepatitis B virus DNA level and liver histological stage, gender, age, body mass index, or hepatitis B surface antigen was observed in these patients with normal ALT. (PMID:20190678)
- The association of coffee and green tea consumption with serum activities of liver enzymes in free-living Japanese men and women was examined, focusing on sex difference and effect modifications of alcohol and obesity. (PMID:20205615)
- Chronic hepatitis B patients with high non-specific cytotoxic T-Lymphocytes also has the high ALT level. (PMID:20387481)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gpt | ENSDARG00000019541 |
| danio_rerio | GPT | ENSDARG00000055642 |
| mus_musculus | Gpt | ENSMUSG00000022546 |
| drosophila_melanogaster | CG1640 | FBGN0030478 |
| caenorhabditis_elegans | WBGENE00009232 | |
| caenorhabditis_elegans | WBGENE00010984 | |
| caenorhabditis_elegans | C32F10.8 | WBGENE00016333 |
Paralogs (7): AADAT (ENSG00000109576), ACCS (ENSG00000110455), KYAT3 (ENSG00000137944), GPT2 (ENSG00000166123), KYAT1 (ENSG00000171097), TAT (ENSG00000198650), ACCSL (ENSG00000205126)
Protein
Protein identifiers
Alanine aminotransferase 1 — P24298 (reviewed: P24298)
Alternative names: Glutamate pyruvate transaminase 1, Glutamic–alanine transaminase 1, Glutamic–pyruvic transaminase 1
All UniProt accessions (1): P24298
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. Participates in cellular nitrogen metabolism and also in liver gluconeogenesis starting with precursors transported from skeletal muscles.
Subunit / interactions. Homodimer.
Subcellular location. Cytoplasm.
Tissue specificity. Liver, kidney, heart, and skeletal muscles. Expressed at moderate levels in the adipose tissue.
Induction. By glucocorticoids.
Pathway. Amino-acid degradation; L-alanine degradation via transaminase pathway; pyruvate from L-alanine: step 1/1.
Similarity. Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily.
RefSeq proteins (3): NP_001369593, NP_001369594, NP_005300* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004839 | Aminotransferase_I/II_large | Domain |
| IPR015421 | PyrdxlP-dep_Trfase_major | Homologous_superfamily |
| IPR015422 | PyrdxlP-dep_Trfase_small | Homologous_superfamily |
| IPR015424 | PyrdxlP-dep_Trfase | Homologous_superfamily |
| IPR045088 | ALAT1/2-like | Family |
Pfam: PF00155
Enzyme classification (BRENDA):
- EC 2.6.1.2 — alanine transaminase (BRENDA: 51 organisms, 65 substrates, 79 inhibitors, 157 Km, 44 kcat entries)
- EC 2.6.1.4 — glycine transaminase (BRENDA: 8 organisms, 32 substrates, 23 inhibitors, 21 Km, 5 kcat entries)
Substrate kinetics (BRENDA)
15 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 2-OXOGLUTARATE | 0.0058–5 | 44 |
| L-ALANINE | 0.21–30.3 | 35 |
| PYRUVATE | 0.022–18.6 | 28 |
| L-GLUTAMATE | 0.1–13 | 20 |
| GLUTAMATE | 0.55–32 | 11 |
| GLYOXYLATE | 0.21–8.3 | 11 |
| ALANINE | 0.25–21 | 10 |
| GLUTAMATE | 2–4.6 | 4 |
| BETA-ALANINE | 3.9–7.6 | 3 |
| GLYOXYLATE | 0.75–0.9 | 3 |
| L-GLUTAMATE | 1.2–6.2 | 3 |
| L-ALANINE | 2.37–2.96 | 2 |
| 4-AMINOBUTANOATE | 0.51 | 1 |
| DL-ALANINE | 8.3 | 1 |
| 2-OXOGLUTARATE | 0.55 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- L-alanine + 2-oxoglutarate = pyruvate + L-glutamate (RHEA:19453)
UniProt features (11 total): sequence conflict 3, modified residue 3, sequence variant 3, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P24298-F1 | 95.32 | 0.93 |
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 (3): 2, 22, 314
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-70268 | Pyruvate metabolism |
| R-HSA-8964540 | Alanine metabolism |
| R-HSA-1428517 | Aerobic respiration and respiratory electron transport |
| R-HSA-1430728 | Metabolism |
| R-HSA-71291 | Metabolism of amino acids and derivatives |
MSigDB gene sets: 106 (showing top):
GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, HOSHIDA_LIVER_CANCER_SUBCLASS_S3, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, HSIAO_LIVER_SPECIFIC_GENES, MOOTHA_GLUCONEOGENESIS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, MODULE_88, GOBP_AMINO_ACID_CATABOLIC_PROCESS, SCHLINGEMANN_SKIN_CARCINOGENESIS_TPA_DN, CHIANG_LIVER_CANCER_SUBCLASS_PROLIFERATION_DN, REACTOME_PYRUVATE_METABOLISM, MODULE_55, KEGG_ALANINE_ASPARTATE_AND_GLUTAMATE_METABOLISM, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON
GO Biological Process (2): L-alanine catabolic process (GO:0042853), biosynthetic process (GO:0009058)
GO Molecular Function (4): L-alanine:2-oxoglutarate transaminase activity (GO:0004021), pyridoxal phosphate binding (GO:0030170), transaminase activity (GO:0008483), transferase activity (GO:0016740)
GO Cellular Component (4): cytosol (GO:0005829), extracellular exosome (GO:0070062), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Metabolism | 2 |
| Aerobic respiration and respiratory electron transport | 1 |
| Metabolism of amino acids and derivatives | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| L-amino acid catabolic process | 1 |
| proteinogenic amino acid catabolic process | 1 |
| metabolic process | 1 |
| L-alanine:oxo-acid transaminase activity | 1 |
| anion binding | 1 |
| vitamin B6 binding | 1 |
| transferase activity, transferring nitrogenous groups | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
4316 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GPT | ALB | P02768 | 928 |
| GPT | PNPLA3 | Q9NST1 | 926 |
| GPT | F2 | P00734 | 918 |
| GPT | HP | P00737 | 918 |
| GPT | CRP | P02741 | 917 |
| GPT | AFP | P02771 | 895 |
| GPT | INS | P01308 | 884 |
| GPT | F3 | P13726 | 880 |
| GPT | BCHE | P06276 | 828 |
| GPT | IL6 | P05231 | 828 |
| GPT | GPX8 | Q8TED1 | 814 |
| GPT | GPX7 | Q96SL4 | 813 |
| GPT | HMGCR | P04035 | 805 |
| GPT | GPX6 | P59796 | 802 |
| GPT | GPX5 | O75715 | 801 |
IntAct
12 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KPNA1 | TCERG1 | psi-mi:“MI:0914”(association) | 0.640 |
| GPT2 | CLPX | psi-mi:“MI:0914”(association) | 0.530 |
| GPT | CDC7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RALA | AKR7A2 | psi-mi:“MI:0914”(association) | 0.350 |
| SASS6 | NFIB | psi-mi:“MI:0914”(association) | 0.350 |
| GPRC5D | FAM234B | psi-mi:“MI:0914”(association) | 0.350 |
| PLD1 | DNAJB5 | psi-mi:“MI:0914”(association) | 0.350 |
| MAEA | MPO | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | ATOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (16): CFL1 (Co-fractionation), GPT (Affinity Capture-MS), GPT (Affinity Capture-MS), GPT (Affinity Capture-MS), GPT (Affinity Capture-MS), GPT (Affinity Capture-MS), GPT (Affinity Capture-MS), GPT (Affinity Capture-MS), GPT (Affinity Capture-MS), GPT (Affinity Capture-MS), GPT (Affinity Capture-MS), GPT (Affinity Capture-MS), GPT (Affinity Capture-MS), GPT (Affinity Capture-MS), GPT (Two-hybrid)
ESM2 similar proteins: A0A6N3IN21, A3KCL7, A4IFH5, A7MBC0, A7MBI7, D3ZDK7, D3ZDM7, E1BNQ4, P09367, P10950, P11172, P13439, P17256, P20132, P24298, P25409, P31754, P46597, P50053, P97328, Q02974, Q03426, Q0VCW4, Q1JPD3, Q3B8E3, Q3TY86, Q3ZKN0, Q5BJJ5, Q5E9T8, Q5M7T9, Q5R514, Q5R824, Q5RD71, Q5RFE6, Q6PCB7, Q6SKR2, Q80W22, Q8CHP8, Q8CIM3, Q8HZJ0
Diamond homologs: A2AIG8, A4IFH5, F4I7I0, P13191, P24298, P25409, P34106, P52892, P52893, P52894, Q10334, Q28DB5, Q4WMJ9, Q54MJ7, Q5E9H2, Q6GM82, Q6NYL5, Q8BGT5, Q8QZR5, Q8TD30, Q9LDV4, Q9LR30, Q9S7E9, Q84WZ8, Q9W698, A0A0P0VI36, P04694, P17735, P33447, Q03VY3, Q3UX83, Q54K95, Q58CZ9, Q67Y55, Q8QZR1, Q8VYP2, Q93703, Q9FN30, Q9LVY1, Q9SIV0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
124 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 20 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
3209 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:144505482:C:A | N244K | 0.999 |
| 8:144505482:C:G | N244K | 0.999 |
| 8:144506117:G:C | K314N | 0.999 |
| 8:144506117:G:T | K314N | 0.999 |
| 8:144506812:T:C | F457L | 0.999 |
| 8:144506814:T:A | F457L | 0.999 |
| 8:144506814:T:G | F457L | 0.999 |
| 8:144505003:T:C | Y123H | 0.998 |
| 8:144505484:C:A | P245H | 0.998 |
| 8:144506031:T:C | F286L | 0.998 |
| 8:144506033:C:A | F286L | 0.998 |
| 8:144506033:C:G | F286L | 0.998 |
| 8:144504642:C:A | N67K | 0.997 |
| 8:144504642:C:G | N67K | 0.997 |
| 8:144505315:T:C | Y189H | 0.997 |
| 8:144505473:C:A | N241K | 0.997 |
| 8:144505473:C:G | N241K | 0.997 |
| 8:144505480:A:G | N244D | 0.997 |
| 8:144505923:A:T | D272V | 0.997 |
| 8:144505926:A:T | E273V | 0.997 |
| 8:144505998:T:C | Y275H | 0.997 |
| 8:144506107:C:T | S311F | 0.997 |
| 8:144506237:G:A | G321E | 0.997 |
| 8:144506606:T:C | Y413H | 0.997 |
| 8:144504647:G:A | G69E | 0.996 |
| 8:144505006:A:C | S124R | 0.996 |
| 8:144505008:C:A | S124R | 0.996 |
| 8:144505008:C:G | S124R | 0.996 |
| 8:144505117:A:C | S161R | 0.996 |
| 8:144505119:C:A | S161R | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000047051 (8:144503476 G>A), RS1000157569 (8:144501278 G>C), RS1000462056 (8:144501501 G>A,C), RS1000709364 (8:144505225 C>G,T), RS1001574728 (8:144501290 C>A,G,T), RS1001681116 (8:144506482 C>A,T), RS1002134160 (8:144502344 C>T), RS1002237019 (8:144502170 G>C), RS1002926236 (8:144504030 C>G), RS1003183868 (8:144507097 G>A), RS1003353703 (8:144507384 G>A), RS1003507053 (8:144503109 G>A,C,T), RS1003611036 (8:144503284 G>A,C), RS1003658037 (8:144507673 C>T), RS1003839859 (8:144505927 G>A,C)
Disease associations
OMIM: gene MIM:138200 | disease phenotypes: MIM:218600
GenCC curated gene-disease
Mondo (1): Baller-Gerold syndrome (MONDO:0009039)
Orphanet (1): Baller-Gerold syndrome (Orphanet:1225)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002598_30 | Educational attainment | 9.000000e-06 |
| GCST003795_8 | Age at first birth | 6.000000e-07 |
| GCST005164_4 | GLP-1 levels in response to oral glucose tolerance test (fasting) | 9.000000e-06 |
| GCST006045_10 | Age at first birth | 6.000000e-09 |
| GCST007440_1 | Alanine aminotransferase levels | 2.000000e-09 |
| GCST011352_31 | Alanine aminotransferase levels | 3.000000e-38 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004784 | self reported educational attainment |
| EFO:0009101 | age at first birth measurement |
| EFO:0004307 | glucose tolerance test |
| EFO:0008465 | glucagon-like peptide-1 measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C536788 | Craniosynostosis radial aplasia syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5929 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
127 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Ethanol | decreases reaction, increases activity, increases reaction, increases secretion, affects cotreatment (+3 more) | 6 |
| Acetaminophen | affects cotreatment, decreases activity, increases activity, increases expression, increases reaction (+1 more) | 4 |
| Aflatoxin B1 | affects expression, decreases expression | 4 |
| Amiodarone | increases activity, increases expression | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| Carbon Tetrachloride | increases reaction, increases expression, increases secretion, decreases reaction | 3 |
| Valproic Acid | increases activity, increases expression, increases methylation | 3 |
| triptolide | decreases reaction, increases expression, increases reaction, increases activity, affects reaction | 2 |
| perfluoro-n-nonanoic acid | decreases activity, decreases expression | 2 |
| Glyphosate | increases abundance, increases activity, increases secretion, affects cotreatment | 2 |
| Arsenic | affects methylation, affects secretion, increases abundance | 2 |
| Cisplatin | affects cotreatment, increases expression, decreases expression | 2 |
| Diethylhexyl Phthalate | increases activity, increases expression | 2 |
| Drugs, Chinese Herbal | increases activity | 2 |
| Folic Acid | decreases expression | 2 |
| Glucose | decreases reaction, increases expression, increases reaction, increases secretion | 2 |
| Gold | decreases expression, affects binding | 2 |
| Rifampin | decreases reaction, increases expression, affects cotreatment, decreases activity | 2 |
| Palmitic Acid | affects cotreatment, increases expression, decreases reaction, increases activity | 2 |
| ribociclib | increases secretion | 1 |
| osimertinib | increases secretion | 1 |
| beta-2-himachalen-6-ol | decreases activity | 1 |
| aminomethylphosphonic acid (AMPA) | increases abundance, increases activity | 1 |
| gentian root extract | decreases reaction, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| lasiocarpine | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| N,N’-monomethylenebis(pyridiniumaldoxime) | increases secretion | 1 |
| pirinixic acid | increases activity, affects binding, decreases expression | 1 |
ChEMBL screening assays
3 unique, capped per target: 3 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1020960 | Binding | Effect on glutamic pyruvate transaminase activity at 0.1 mg/ml | Hepatoprotective activity of polyphenolic compounds from Cynara scolymus against CCl4 toxicity in isolated rat hepatocytes. — J Nat Prod |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Baller-Gerold syndrome