FGGY
geneOn this page
Also known as FLJ10986
Summary
FGGY (FGGY carbohydrate kinase domain containing, HGNC:25610) is a protein-coding gene on chromosome 1p32.1, encoding FGGY carbohydrate kinase domain-containing protein (Q96C11). Catalyzes ATP-dependent phosphorylation of D-ribulose at C-5 to form D-ribulose 5-phosphate.
This gene encodes a protein that phosphorylates carbohydrates such as ribulose, ribitol, and L-arabinitol. Genome-wide association studies in some populations have found an association between polymorphisms in this gene and sporadic amyotrophic lateral sclerosis, but studies of other populations have not been able to replicate this association. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 55277 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 120 total
- MANE Select transcript:
NM_018291
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25610 |
| Approved symbol | FGGY |
| Name | FGGY carbohydrate kinase domain containing |
| Location | 1p32.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10986 |
| Ensembl gene | ENSG00000172456 |
| Ensembl biotype | protein_coding |
| OMIM | 611370 |
| Entrez | 55277 |
Gene structure
Transcript identifiers
Ensembl transcripts: 60 — 41 protein_coding, 11 protein_coding_CDS_not_defined, 7 nonsense_mediated_decay, 1 retained_intron
ENST00000303721, ENST00000371210, ENST00000371212, ENST00000371218, ENST00000413489, ENST00000424725, ENST00000430447, ENST00000462744, ENST00000466791, ENST00000471169, ENST00000472783, ENST00000474476, ENST00000475949, ENST00000476939, ENST00000480847, ENST00000485720, ENST00000493891, ENST00000495718, ENST00000582567, ENST00000583635, ENST00000634364, ENST00000634399, ENST00000634606, ENST00000635156, ENST00000635297, ENST00000894270, ENST00000894271, ENST00000894272, ENST00000894273, ENST00000894274, ENST00000894275, ENST00000894276, ENST00000894277, ENST00000894278, ENST00000894279, ENST00000894280, ENST00000894281, ENST00000894282, ENST00000894283, ENST00000894284, ENST00000894285, ENST00000894286, ENST00000894287, ENST00000894288, ENST00000894289, ENST00000894290, ENST00000894291, ENST00000894292, ENST00000894293, ENST00000894294, ENST00000939057, ENST00000939058, ENST00000941446, ENST00000941447, ENST00000941448, ENST00000941449, ENST00000941450, ENST00000941451, ENST00000941452, ENST00000941453
RefSeq mRNA: 14 — MANE Select: NM_018291
NM_001113411, NM_001244714, NM_001278224, NM_001350790, NM_001350791, NM_001350792, NM_001350793, NM_001350794, NM_001350795, NM_001350796, NM_001350797, NM_001350798, NM_001350799, NM_018291
CCDS: CCDS44155, CCDS58003, CCDS60155, CCDS611
Canonical transcript exons
ENST00000303721 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003469176 | 59378749 | 59378837 |
| ENSE00003473209 | 59667283 | 59667403 |
| ENSE00003490352 | 59554124 | 59554227 |
| ENSE00003496354 | 59660219 | 59660293 |
| ENSE00003547913 | 59346247 | 59346398 |
| ENSE00003559410 | 59512311 | 59512439 |
| ENSE00003592558 | 59339958 | 59340069 |
| ENSE00003603847 | 59625988 | 59626049 |
| ENSE00003609460 | 59321536 | 59321750 |
| ENSE00003616318 | 59674039 | 59674133 |
| ENSE00003625837 | 59757931 | 59757992 |
| ENSE00003627347 | 59607803 | 59607910 |
| ENSE00003648044 | 59456961 | 59457076 |
| ENSE00003653980 | 59762503 | 59762730 |
| ENSE00003687418 | 59638228 | 59638375 |
| ENSE00003902984 | 59297094 | 59297150 |
Expression profiles
Bgee: expression breadth ubiquitous, 213 present calls, max score 96.18.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.6521 / max 87.1634, expressed in 1746 samples.
FANTOM5 promoters (11 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 3043 | 4.4305 | 1565 |
| 3041 | 1.1039 | 573 |
| 3042 | 0.5612 | 310 |
| 3052 | 0.3446 | 94 |
| 3049 | 0.0478 | 19 |
| 3051 | 0.0337 | 16 |
| 3044 | 0.0309 | 13 |
| 3050 | 0.0297 | 10 |
| 3046 | 0.0295 | 5 |
| 201527 | 0.0238 | 6 |
Top tissues by expression
278 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 96.18 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.29 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.12 | gold quality |
| muscle of leg | UBERON:0001383 | 91.98 | gold quality |
| liver | UBERON:0002107 | 91.87 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.12 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 89.58 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.05 | gold quality |
| muscle organ | UBERON:0001630 | 88.81 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.64 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.55 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 88.35 | gold quality |
| colonic epithelium | UBERON:0000397 | 88.08 | gold quality |
| minor salivary gland | UBERON:0001830 | 88.05 | gold quality |
| corpus epididymis | UBERON:0004359 | 87.92 | gold quality |
| gluteal muscle | UBERON:0002000 | 87.77 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 87.07 | gold quality |
| left adrenal gland | UBERON:0001234 | 87.03 | gold quality |
| sural nerve | UBERON:0015488 | 86.78 | gold quality |
| body of pancreas | UBERON:0001150 | 86.70 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.42 | gold quality |
| right uterine tube | UBERON:0001302 | 86.15 | gold quality |
| ventricular zone | UBERON:0003053 | 86.04 | gold quality |
| adenohypophysis | UBERON:0002196 | 85.96 | gold quality |
| adrenal gland | UBERON:0002369 | 85.53 | gold quality |
| adrenal cortex | UBERON:0001235 | 85.22 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 84.96 | gold quality |
| mouth mucosa | UBERON:0003729 | 84.80 | gold quality |
| pituitary gland | UBERON:0000007 | 84.51 | gold quality |
| adrenal tissue | UBERON:0018303 | 84.28 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-1 | yes | 87.04 |
| E-CURD-119 | yes | 60.89 |
| E-MTAB-10553 | yes | 24.89 |
| E-ANND-3 | yes | 23.81 |
| E-HCAD-9 | yes | 11.55 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
6 targeting FGGY, 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-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-1272 | 99.34 | 68.79 | 878 |
| HSA-MIR-5589-3P | 99.29 | 68.30 | 1443 |
| HSA-MIR-4777-3P | 99.15 | 68.92 | 626 |
| HSA-MIR-875-5P | 96.74 | 66.48 | 579 |
| HSA-MIR-193A-5P | 95.70 | 65.33 | 613 |
Literature-anchored findings (GeneRIF, showing 7)
- Variants of FLJ10986 may confer susceptibility to sporadic ALS (amyotrophic lateral sclerosis). (PMID:17671248)
- The result of this study suggested that FLJI0986 that do not modulate the risk for SALS in the German population. (PMID:19464757)
- Results suggest that common genetic variation in FGGY is not associated with susceptibility to sporadic ALS in genetically homogeneous populations from northern Europe. (PMID:19922138)
- This study indicated that mutations in fggy genes are unlikely to be a common cause of ALS in the French and French Canadian populations. (PMID:20001489)
- Single-nucleotide polymorphism in FGGY is not associated with amyotrophic lateral sclerosis in a large Chinese cohort. (PMID:24439956)
- S. cerevisiae Ydr109c and human FGGY could act as metabolite repair enzymes, serving to re-phosphorylate free d-ribulose generated by promiscuous phosphatases from d-ribulose 5-phosphate. In human cells, FGGY can additionally participate in ribitol metabolism. (PMID:27909055)
- LINE-1-FGGY expression corresponded with smoke-induced LINE-1 promoter hypomethylation, lipid metabolism dysregulation, and immune microenvironment alteration in the lung squamous cell carcinoma. (PMID:31289132)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fggy | ENSDARG00000038667 |
| mus_musculus | Fggy | ENSMUSG00000028573 |
| rattus_norvegicus | Fggy | ENSRNOG00000008907 |
| drosophila_melanogaster | CG11594 | FBGN0035484 |
Paralogs (6): XYLB (ENSG00000093217), GK5 (ENSG00000175066), GK2 (ENSG00000196475), SHPK (ENSG00000197417), GK (ENSG00000198814), GK3 (ENSG00000229894)
Protein
Protein identifiers
FGGY carbohydrate kinase domain-containing protein — Q96C11 (reviewed: Q96C11)
Alternative names: D-ribulokinase FGGY
All UniProt accessions (9): A0A0U1RQJ1, A0A0U1RQS3, A0A0U1RR53, A0A0U1RRB9, A0A0U1RRI8, C9J015, Q96C11, F2Z2V1, J3QKV9
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes ATP-dependent phosphorylation of D-ribulose at C-5 to form D-ribulose 5-phosphate. Postulated to function in a metabolite repair mechanism by preventing toxic accumulation of free D-ribulose formed by non-specific phosphatase activities. Alternatively, may play a role in regulating D-ribulose 5-phosphate recycling in the pentose phosphate pathway. Can phosphorylate ribitol with low efficiency.
Tissue specificity. Expressed in kidney, lung and small intestine and to a lower extent in liver and detected in cerebrospinal fluid (at protein level).
Disease relevance. Amyotrophic lateral sclerosis (ALS) [MIM:105400] A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Disease susceptibility is associated with variants affecting the gene represented in this entry.
Pathway. Carbohydrate metabolism; pentose and glucuronate interconversion.
Similarity. Belongs to the FGGY kinase family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96C11-1 | 1 | yes |
| Q96C11-2 | 2 | |
| Q96C11-4 | 3 | |
| Q96C11-3 | 4 | |
| Q96C11-5 | 5 | |
| Q96C11-6 | 6 |
RefSeq proteins (14): NP_001106882, NP_001231643, NP_001265153, NP_001337719, NP_001337720, NP_001337721, NP_001337722, NP_001337723, NP_001337724, NP_001337725, NP_001337726, NP_001337727, NP_001337728, NP_060761* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000577 | Carb_kinase_FGGY | Family |
| IPR006003 | FGGY_RbtK-like | Family |
| IPR018484 | FGGY_N | Domain |
| IPR018485 | FGGY_C | Domain |
| IPR043129 | ATPase_NBD | Homologous_superfamily |
Pfam: PF00370, PF02782
Enzyme classification (BRENDA):
- EC 2.7.1.47 — D-ribulokinase (BRENDA: 3 organisms, 10 substrates, 3 inhibitors, 10 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| D-RIBULOSE | 0.097–0.92 | 4 |
| RIBITOL | 1.468–220 | 2 |
| ATP | 0.83 | 1 |
| D-ARABITOL | 140 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- D-ribulose + ATP = D-ribulose 5-phosphate + ADP + H(+) (RHEA:17601)
UniProt features (9 total): splice variant 5, sequence variant 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96C11-F1 | 96.13 | 0.96 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 127 (showing top):
ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_CARBOHYDRATE_PHOSPHORYLATION, TCF4_Q5, DAVICIONI_RHABDOMYOSARCOMA_PAX_FOXO1_FUSION_UP, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, DOUGLAS_BMI1_TARGETS_DN, GOBP_MONOSACCHARIDE_METABOLIC_PROCESS, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOBP_PENTOSE_METABOLIC_PROCESS, GRYDER_PAX3FOXO1_TOP_ENHANCERS, GOBP_HOMEOSTATIC_PROCESS, GOMF_KINASE_ACTIVITY, GOMF_CARBOHYDRATE_KINASE_ACTIVITY, YOSHIMURA_MAPK8_TARGETS_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN
GO Biological Process (4): pentose metabolic process (GO:0019321), carbohydrate phosphorylation (GO:0046835), neuron cellular homeostasis (GO:0070050), carbohydrate metabolic process (GO:0005975)
GO Molecular Function (4): D-ribulokinase activity (GO:0019150), kinase activity (GO:0016301), transferase activity (GO:0016740), phosphotransferase activity, alcohol group as acceptor (GO:0016773)
GO Cellular Component (1): cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transferase activity, transferring phosphorus-containing groups | 2 |
| monosaccharide metabolic process | 1 |
| carbohydrate metabolic process | 1 |
| phosphorylation | 1 |
| cellular homeostasis | 1 |
| primary metabolic process | 1 |
| phosphotransferase activity, alcohol group as acceptor | 1 |
| carbohydrate kinase activity | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2107 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FGGY | SHPK | Q9UHJ6 | 878 |
| FGGY | CTNS | O60931 | 711 |
| FGGY | ELP3 | Q9H9T3 | 693 |
| FGGY | DPP6 | P42658 | 629 |
| FGGY | DCTN1 | Q14203 | 624 |
| FGGY | KIFAP3 | Q92845 | 571 |
| FGGY | ITPR2 | Q14571 | 571 |
| FGGY | UNC13A | Q9UPW8 | 571 |
| FGGY | ATXN2 | Q99700 | 506 |
| FGGY | TM2D1 | Q9BX74 | 493 |
| FGGY | VAPB | O95292 | 491 |
| FGGY | CHRNB4 | P30926 | 490 |
| FGGY | CHRNA4 | P43681 | 490 |
| FGGY | RBM33 | Q96EV2 | 489 |
| FGGY | SMN1 | Q16637 | 477 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NSFL1C | VCP | psi-mi:“MI:0914”(association) | 0.970 |
| FGGY | MRPS22 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FGGY | EAF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (10): EAF1 (Affinity Capture-MS), FGGY (Affinity Capture-MS), FGGY (Affinity Capture-MS), EAF1 (Affinity Capture-MS), FGGY (Affinity Capture-RNA), FGGY (Proximity Label-MS), EAF1 (Affinity Capture-MS), FGGY (Affinity Capture-MS), FGGY (Cross-Linking-MS (XL-MS)), FGGY (Affinity Capture-RNA)
ESM2 similar proteins: A2AJL3, A4IPA2, A6QM00, B2VEQ9, B7GGV9, O75191, P0CQ14, P0CQ15, P30646, P37677, P44399, P94524, Q0CH39, Q0P4K0, Q0TVK3, Q2GXN6, Q32LQ3, Q3MIF4, Q3SYZ6, Q3TNA1, Q49V87, Q4V7F3, Q58H57, Q5E9S4, Q5KYP6, Q5R5P3, Q5R830, Q5WL06, Q65GC1, Q6DCD1, Q6FLI1, Q6JQN1, Q6NUW9, Q6PEB4, Q758R9, Q87FK5, Q8BH55, Q8BWU8, Q8IYQ7, Q8K370
Diamond homologs: A1TGD7, A2AJL3, Q04585, Q4R4D5, Q65GC1, Q6DCD1, Q6NUW9, Q826J2, Q96C11, Q9LBQ3, Q9NJP9, Q9RJM2, P11553, P44399, Q8A1A3, Q8X6R3, Q8Z428, Q8ZMC5, P95907, A1A7B0, A4IPA2, A4W6G7, A5ISI2, A6QEK4, A6QGJ8, A6T4K1, A6U1B8, A7WYY2, A7X1U3, A7ZHF4, A7ZW13, A8ALN9, A8FQ89, A8GE05, A8Z1X0, A9MQF0, A9MYN9, B1IRB5, B1KKY8, B1LFZ7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
120 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 91 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
6044 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:59321747:AAAGG:A | donor_loss | 1.0000 |
| 1:59321748:AAGGT:A | donor_loss | 1.0000 |
| 1:59321750:GGTA:G | donor_loss | 1.0000 |
| 1:59321751:GTAT:G | donor_loss | 1.0000 |
| 1:59321752:T:A | donor_loss | 1.0000 |
| 1:59339951:A:AG | acceptor_gain | 1.0000 |
| 1:59339952:A:G | acceptor_gain | 1.0000 |
| 1:59339957:GAAA:G | acceptor_gain | 1.0000 |
| 1:59340065:GGAAG:G | donor_gain | 1.0000 |
| 1:59340066:GAAGG:G | donor_gain | 1.0000 |
| 1:59351297:C:G | donor_gain | 1.0000 |
| 1:59512299:A:AG | acceptor_gain | 1.0000 |
| 1:59512299:AT:A | acceptor_gain | 1.0000 |
| 1:59512300:T:G | acceptor_gain | 1.0000 |
| 1:59512300:T:TA | acceptor_gain | 1.0000 |
| 1:59512305:A:AG | acceptor_gain | 1.0000 |
| 1:59512306:C:G | acceptor_gain | 1.0000 |
| 1:59512306:CCCA:C | acceptor_loss | 1.0000 |
| 1:59512307:CCAG:C | acceptor_loss | 1.0000 |
| 1:59512308:CAGG:C | acceptor_loss | 1.0000 |
| 1:59512309:A:AG | acceptor_gain | 1.0000 |
| 1:59512309:AG:A | acceptor_gain | 1.0000 |
| 1:59512310:G:GC | acceptor_gain | 1.0000 |
| 1:59512310:GG:G | acceptor_gain | 1.0000 |
| 1:59512434:GAC:G | donor_gain | 1.0000 |
| 1:59515433:GAAA:G | donor_gain | 1.0000 |
| 1:59515436:A:AG | donor_gain | 1.0000 |
| 1:59515436:A:G | donor_gain | 1.0000 |
| 1:59625982:TTTCA:T | acceptor_loss | 1.0000 |
| 1:59625983:TTCA:T | acceptor_loss | 1.0000 |
AlphaMissense
3613 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:59346273:T:A | W114R | 0.998 |
| 1:59346273:T:C | W114R | 0.998 |
| 1:59512419:A:T | D260V | 0.998 |
| 1:59456970:C:G | C188W | 0.997 |
| 1:59512419:A:C | D260A | 0.997 |
| 1:59512420:T:A | D260E | 0.997 |
| 1:59512420:T:G | D260E | 0.997 |
| 1:59340009:G:C | A85P | 0.996 |
| 1:59456986:T:A | W194R | 0.996 |
| 1:59456986:T:C | W194R | 0.996 |
| 1:59512419:A:G | D260G | 0.996 |
| 1:59607836:T:A | W313R | 0.996 |
| 1:59607836:T:C | W313R | 0.996 |
| 1:59607839:G:A | G314R | 0.996 |
| 1:59607839:G:C | G314R | 0.996 |
| 1:59607876:T:C | L326P | 0.996 |
| 1:59340017:T:G | C87W | 0.995 |
| 1:59346280:A:T | D116V | 0.995 |
| 1:59456968:T:C | C188R | 0.995 |
| 1:59456982:T:G | C192W | 0.995 |
| 1:59456985:G:C | K193N | 0.995 |
| 1:59456985:G:T | K193N | 0.995 |
| 1:59554218:T:G | C298W | 0.995 |
| 1:59607840:G:A | G314E | 0.995 |
| 1:59660285:G:C | A430P | 0.995 |
| 1:59321726:G:C | W59C | 0.994 |
| 1:59321726:G:T | W59C | 0.994 |
| 1:59346286:G:C | R118P | 0.994 |
| 1:59512401:T:A | V254D | 0.994 |
| 1:59512418:G:C | D260H | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000004708 (1:59706320 G>A), RS1000010106 (1:59488026 T>G), RS1000018536 (1:59339397 A>T), RS1000025677 (1:59640146 C>A), RS1000032875 (1:59630055 A>C), RS1000038847 (1:59554569 T>A), RS1000039562 (1:59668836 A>C,G), RS1000041871 (1:59450308 T>G), RS1000051155 (1:59371696 A>G), RS1000058475 (1:59587024 G>A), RS1000060352 (1:59497947 A>G), RS1000073044 (1:59450061 G>T), RS1000080700 (1:59598466 T>G), RS1000090049 (1:59756740 C>A,T), RS1000091816 (1:59673904 G>A)
Disease associations
OMIM: gene MIM:611370 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000514_5 | Response to antipsychotic therapy (extrapyramidal side effects) | 7.000000e-06 |
| GCST001059_19 | Neutrophil count | 3.000000e-06 |
| GCST001762_168 | Obesity-related traits | 5.000000e-06 |
| GCST001762_741 | Obesity-related traits | 2.000000e-06 |
| GCST002700_4 | Cervical artery dissection | 2.000000e-07 |
| GCST003158_1 | Subjective response to lithium treatment | 6.000000e-07 |
| GCST004278_51 | Pulse pressure | 2.000000e-24 |
| GCST004651_5 | Aortic root size | 3.000000e-09 |
| GCST004775_2 | Pulse pressure | 5.000000e-07 |
| GCST004775_36 | Pulse pressure | 3.000000e-20 |
| GCST007102_1 | Seasonality and depression | 3.000000e-06 |
| GCST009615_1 | Triglyceride levels x loop diuretics use interaction | 6.000000e-08 |
| GCST009615_2 | Triglyceride levels x loop diuretics use interaction | 4.000000e-06 |
| GCST010796_1312 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-08 |
| GCST010796_1313 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-09 |
| GCST90002393_32 | Monocyte count | 6.000000e-10 |
| GCST90002394_138 | Monocyte percentage of white cells | 5.000000e-15 |
| GCST90011899_102 | Aspartate aminotransferase levels | 2.000000e-10 |
EFO canonical traits (9, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004833 | neutrophil count |
| EFO:0004501 | HOMA-IR |
| EFO:0005763 | pulse pressure measurement |
| EFO:0006876 | seasonality measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004327 | electrocardiography |
| EFO:0005091 | monocyte count |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0004736 | aspartate aminotransferase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases methylation | 6 |
| Aflatoxin B1 | affects expression, decreases expression, increases methylation | 5 |
| Arsenic | affects methylation, increases abundance, increases expression, affects cotreatment, decreases expression | 3 |
| bisphenol A | decreases methylation, increases expression, affects cotreatment | 2 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| bufotalin | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| alpha phellandrene | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| quinocetone | increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| jinfukang | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Cadmium | increases expression, decreases reaction | 1 |
| Cisplatin | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Nickel | decreases expression | 1 |
| Selenium | decreases reaction, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SN55 | HAP1 FGGY (-) 1 | Cancer cell line | Male |
| CVCL_XN76 | HAP1 FGGY (-) 2 | Cancer cell line | Male |
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): cervical artery dissection