GALK2
geneOn this page
Also known as GK2
Summary
GALK2 (galactokinase 2, HGNC:4119) is a protein-coding gene on chromosome 15q21.1-q21.2, encoding N-acetylgalactosamine kinase (Q01415). Acts on GalNAc.
This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. The encoded protein is a member of the GHMP kinase family. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 2585 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 70 total
- MANE Select transcript:
NM_002044
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4119 |
| Approved symbol | GALK2 |
| Name | galactokinase 2 |
| Location | 15q21.1-q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GK2 |
| Ensembl gene | ENSG00000156958 |
| Ensembl biotype | protein_coding |
| OMIM | 137028 |
| Entrez | 2585 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 17 protein_coding, 8 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined
ENST00000327171, ENST00000396509, ENST00000544523, ENST00000558145, ENST00000558399, ENST00000558775, ENST00000558956, ENST00000559040, ENST00000559095, ENST00000559208, ENST00000559423, ENST00000559454, ENST00000559580, ENST00000559883, ENST00000559963, ENST00000560031, ENST00000560119, ENST00000560138, ENST00000560528, ENST00000560654, ENST00000561014, ENST00000561074, ENST00000909176, ENST00000909177, ENST00000909178, ENST00000968617, ENST00000968618, ENST00000968619
RefSeq mRNA: 6 — MANE Select: NM_002044
NM_001001556, NM_001289030, NM_001289031, NM_001352047, NM_001352048, NM_002044
CCDS: CCDS32236, CCDS42034, CCDS73724
Canonical transcript exons
ENST00000560031 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001406932 | 49327952 | 49331882 |
| ENSE00002558243 | 49170247 | 49170375 |
| ENSE00003458850 | 49283566 | 49283718 |
| ENSE00003514630 | 49319604 | 49319805 |
| ENSE00003528785 | 49239221 | 49239367 |
| ENSE00003546714 | 49292327 | 49292537 |
| ENSE00003596830 | 49201162 | 49201250 |
| ENSE00003628224 | 49281987 | 49282085 |
| ENSE00003656462 | 49217190 | 49217313 |
| ENSE00003682735 | 49235851 | 49235941 |
Expression profiles
Bgee: expression breadth ubiquitous, 267 present calls, max score 94.39.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.7209 / max 157.8898, expressed in 1805 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 146556 | 9.5987 | 1772 |
| 146558 | 5.1762 | 1571 |
| 146557 | 1.9460 | 1056 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 94.39 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.02 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.23 | gold quality |
| right adrenal gland | UBERON:0001233 | 90.50 | gold quality |
| left adrenal gland | UBERON:0001234 | 90.22 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 89.83 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.82 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.75 | gold quality |
| rectum | UBERON:0001052 | 89.72 | gold quality |
| tendon | UBERON:0000043 | 89.47 | gold quality |
| adrenal gland | UBERON:0002369 | 88.98 | gold quality |
| stromal cell of endometrium | CL:0002255 | 88.63 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 88.35 | gold quality |
| sural nerve | UBERON:0015488 | 88.19 | gold quality |
| adrenal cortex | UBERON:0001235 | 88.04 | gold quality |
| right lobe of liver | UBERON:0001114 | 87.60 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.59 | gold quality |
| ventricular zone | UBERON:0003053 | 87.42 | gold quality |
| pancreas | UBERON:0001264 | 86.71 | gold quality |
| body of pancreas | UBERON:0001150 | 86.37 | gold quality |
| heart left ventricle | UBERON:0002084 | 86.32 | gold quality |
| monocyte | CL:0000576 | 86.26 | gold quality |
| bronchial epithelial cell | CL:0002328 | 86.18 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 86.09 | gold quality |
| cardiac ventricle | UBERON:0002082 | 85.88 | gold quality |
| gall bladder | UBERON:0002110 | 85.74 | gold quality |
| right uterine tube | UBERON:0001302 | 85.73 | gold quality |
| mononuclear cell | CL:0000842 | 85.69 | gold quality |
| tibial nerve | UBERON:0001323 | 85.68 | gold quality |
| right atrium auricular region | UBERON:0006631 | 85.68 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.57 |
| E-MTAB-7249 | no | 128.88 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
102 targeting GALK2, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-5700 | 99.64 | 69.88 | 2280 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
Literature-anchored findings (GeneRIF, showing 3)
- geometry and substrate specificity of the GalNAc kinase active site before and after catalysis (PMID:16006554)
- GALK2 has an ordered ternary complex mechanism in which ATP is the first substrate to bind (PMID:19874134)
- Kinetic studies suggest an ordered ternary complex mechanism in which ATP is the first substrate to bind. (PMID:19874134)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | galk2 | ENSDARG00000004059 |
| mus_musculus | Galk2 | ENSMUSG00000027207 |
| rattus_norvegicus | Galk2 | ENSRNOG00000009289 |
| drosophila_melanogaster | Galk | FBGN0263199 |
| caenorhabditis_elegans | tag-96 | WBGENE00006461 |
Paralogs (2): GALK1 (ENSG00000108479), MVK (ENSG00000110921)
Protein
Protein identifiers
N-acetylgalactosamine kinase — Q01415 (reviewed: Q01415)
Alternative names: GalNAc kinase, Galactokinase 2
All UniProt accessions (14): Q01415, B7ZAX5, H0YK10, H0YK30, H0YLF9, H0YLK3, H0YLL3, H0YLL8, H0YM44, H0YML1, H0YN31, H0YN87, H0YND3, H0YNR7
UniProt curated annotations — full annotation on UniProt →
Function. Acts on GalNAc. Also acts as a galactokinase when galactose is present at high concentrations. May be involved in a salvage pathway for the reutilization of free GalNAc derived from the degradation of complex carbohydrates.
Subunit / interactions. Monomer.
Similarity. Belongs to the GHMP kinase family. GalK subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q01415-1 | 1 | yes |
| Q01415-2 | 2 |
RefSeq proteins (6): NP_001001556, NP_001275959, NP_001275960, NP_001338976, NP_001338977, NP_002035* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000705 | Galactokinase | Family |
| IPR006203 | GHMP_knse_ATP-bd_CS | Conserved_site |
| IPR006204 | GHMP_kinase_N_dom | Domain |
| IPR006206 | Mevalonate/galactokinase | Family |
| IPR013750 | GHMP_kinase_C_dom | Domain |
| IPR014721 | Ribsml_uS5_D2-typ_fold_subgr | Homologous_superfamily |
| IPR019539 | GalKase_N | Domain |
| IPR019741 | Galactokinase_CS | Conserved_site |
| IPR020568 | Ribosomal_Su5_D2-typ_SF | Homologous_superfamily |
| IPR036554 | GHMP_kinase_C_sf | Homologous_superfamily |
Pfam: PF00288, PF08544, PF10509
Enzyme classification (BRENDA):
- EC 2.7.1.157 — N-acetylgalactosamine kinase (BRENDA: 3 organisms, 10 substrates, 4 inhibitors, 56 Km, 27 kcat entries)
Substrate kinetics (BRENDA)
7 substrates with measured Km, best-characterized 7. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ATP | 0.006–0.13 | 26 |
| N-ACETYL-ALPHA-D-GALACTOSAMINE | 0.04–0.95 | 9 |
| N-ACETYL-ALPHA-D-GLUCOSAMINE | 0.051–0.39 | 7 |
| N-ACETYL-ALPHA-D-MANNOSAMINE | 0.25–4.1 | 7 |
| N-ACETYL-D-GALACTOSAMINE | 0.04–0.14 | 3 |
| D-GALACTOSE | 0.5 | 1 |
| GALACTOSE | 0.5 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- N-acetyl-alpha-D-galactosamine + ATP = N-acetyl-alpha-D-galactosamine 1-phosphate + ADP + H(+) (RHEA:12617)
UniProt features (53 total): helix 20, strand 16, binding site 10, turn 2, chain 1, active site 1, site 1, splice variant 1, sequence variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2A2C | X-RAY DIFFRACTION | 1.65 |
| 2A2D | X-RAY DIFFRACTION | 2.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q01415-F1 | 95.07 | 0.91 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 190 (proton acceptor); 43 (transition state stabilizer)
Ligand- & substrate-binding residues (10): 233; 234; 43; 49; 50; 52; 143; 145; 146; 190
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 103 (showing top):
GOBP_POLYOL_METABOLIC_PROCESS, GOBP_POLYOL_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MALE_GAMETE_GENERATION, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, NKX61_01, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, MORF_ZNF10, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_CILIUM_ORGANIZATION, KEGG_PPAR_SIGNALING_PATHWAY, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_CARBOHYDRATE_METABOLIC_PROCESS
GO Biological Process (3): carbohydrate metabolic process (GO:0005975), galactose metabolic process (GO:0006012), carbohydrate phosphorylation (GO:0046835)
GO Molecular Function (7): galactokinase activity (GO:0004335), ATP binding (GO:0005524), N-acetylgalactosamine kinase activity (GO:0033858), nucleotide binding (GO:0000166), kinase activity (GO:0016301), transferase activity (GO:0016740), phosphotransferase activity, alcohol group as acceptor (GO:0016773)
GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| phosphotransferase activity, alcohol group as acceptor | 2 |
| carbohydrate kinase activity | 2 |
| transferase activity, transferring phosphorus-containing groups | 2 |
| cellular anatomical structure | 2 |
| primary metabolic process | 1 |
| hexose metabolic process | 1 |
| carbohydrate metabolic process | 1 |
| phosphorylation | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1950 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GALK2 | UAP1 | Q16222 | 672 |
| GALK2 | GALE | Q14376 | 666 |
| GALK2 | AKR1B1 | P15121 | 586 |
| GALK2 | TK1 | P04183 | 580 |
| GALK2 | GALT | P07902 | 554 |
| GALK2 | MVK | Q03426 | 508 |
| GALK2 | PTGR3 | Q8N4Q0 | 503 |
| GALK2 | GALM | Q96C23 | 459 |
| GALK2 | PGM3 | O95394 | 451 |
| GALK2 | ARMC6 | Q6NXE6 | 435 |
| GALK2 | GNE | Q9Y223 | 423 |
| GALK2 | NAGK | Q9UJ70 | 414 |
| GALK2 | TPI1 | P00938 | 406 |
| GALK2 | OTC | P00480 | 403 |
| GALK2 | MAP7D2 | Q96T17 | 402 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GALK2 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (27): GALK2 (Co-fractionation), GALK2 (Co-fractionation), GALK2 (Co-fractionation), GALK2 (Co-fractionation), LTA4H (Co-fractionation), MEMO1 (Co-fractionation), MVD (Co-fractionation), POTEF (Affinity Capture-MS), CCDC18 (Affinity Capture-MS), PABPC3 (Affinity Capture-MS), GNB4 (Affinity Capture-MS), GNB2 (Affinity Capture-MS), PLS1 (Affinity Capture-MS), CD59 (Affinity Capture-MS), AHNAK (Affinity Capture-MS)
ESM2 similar proteins: A1L1F0, A4IFG2, A5A6P1, A5GFY8, C3K0A7, D9IVE5, O43175, P10688, P10895, P18407, P25335, Q01415, Q02JZ8, Q09913, Q0V9A9, Q1ED21, Q2KIG4, Q32NH8, Q3B8C3, Q3KFK9, Q3TV70, Q48KS4, Q4K8H3, Q4R964, Q4ZVG8, Q58DU8, Q5EAD2, Q5PQR3, Q5R6J8, Q5R7M2, Q61753, Q640T1, Q68FH4, Q6AYP0, Q6DGA6, Q6LPX9, Q86WQ0, Q87YX4, Q8BIP0, Q8C726
Diamond homologs: A0KQH8, A1A900, A1KG98, A4W899, A5U003, A5UDQ5, A5UHX0, A7MIX5, A7MV01, A7ZJD2, A7ZY13, A8GBA5, A9MJI2, B1IXX9, B1LM48, B1YIH8, B2GEP6, B2TUY8, B2VBV2, B5ETC9, B5YRF5, B6I7R1, B7IDE2, B7LAF8, B7LK02, B7M6C0, B7MGL4, B7MPP1, B7N9Z9, B7NNH9, B7ULN0, C1AKV1, C4ZXS8, O42821, P04385, P09608, P0A6T3, P0A6T4, P13045, P31767
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
70 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 63 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3534 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:49170250:G:GT | donor_gain | 1.0000 |
| 15:49189978:G:GT | donor_gain | 1.0000 |
| 15:49201155:T:G | acceptor_gain | 1.0000 |
| 15:49201159:CAGGT:C | acceptor_loss | 1.0000 |
| 15:49201160:A:AG | acceptor_gain | 1.0000 |
| 15:49201160:A:T | acceptor_loss | 1.0000 |
| 15:49201160:AG:A | acceptor_gain | 1.0000 |
| 15:49201161:G:A | acceptor_loss | 1.0000 |
| 15:49201161:G:GA | acceptor_gain | 1.0000 |
| 15:49201161:GG:G | acceptor_gain | 1.0000 |
| 15:49201161:GGT:G | acceptor_gain | 1.0000 |
| 15:49201161:GGTT:G | acceptor_gain | 1.0000 |
| 15:49201161:GGTTA:G | acceptor_gain | 1.0000 |
| 15:49201233:G:GT | donor_gain | 1.0000 |
| 15:49201247:A:AG | donor_gain | 1.0000 |
| 15:49201247:A:G | donor_gain | 1.0000 |
| 15:49201247:ATAGG:A | donor_loss | 1.0000 |
| 15:49201252:T:G | donor_loss | 1.0000 |
| 15:49217184:TTCTA:T | acceptor_loss | 1.0000 |
| 15:49217186:CTA:C | acceptor_loss | 1.0000 |
| 15:49217187:TA:T | acceptor_loss | 1.0000 |
| 15:49217188:A:AG | acceptor_gain | 1.0000 |
| 15:49217189:G:GG | acceptor_gain | 1.0000 |
| 15:49217189:GGA:G | acceptor_gain | 1.0000 |
| 15:49217189:GGAGA:G | acceptor_gain | 1.0000 |
| 15:49217309:TATCC:T | donor_gain | 1.0000 |
| 15:49217311:TCC:T | donor_gain | 1.0000 |
| 15:49217312:CC:C | donor_gain | 1.0000 |
| 15:49217313:CG:C | donor_loss | 1.0000 |
| 15:49217314:G:GG | donor_gain | 1.0000 |
AlphaMissense
3001 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:49239305:A:C | S148R | 0.999 |
| 15:49239307:T:A | S148R | 0.999 |
| 15:49239307:T:G | S148R | 0.999 |
| 15:49282051:A:C | D190A | 0.999 |
| 15:49282051:A:T | D190V | 0.999 |
| 15:49282052:C:A | D190E | 0.999 |
| 15:49282052:C:G | D190E | 0.999 |
| 15:49283581:T:C | F207L | 0.999 |
| 15:49283583:T:A | F207L | 0.999 |
| 15:49283583:T:G | F207L | 0.999 |
| 15:49201236:G:C | R43T | 0.998 |
| 15:49201237:A:C | R43S | 0.998 |
| 15:49201237:A:T | R43S | 0.998 |
| 15:49201243:C:A | N45K | 0.998 |
| 15:49201243:C:G | N45K | 0.998 |
| 15:49217190:G:A | G48E | 0.998 |
| 15:49217190:G:T | G48V | 0.998 |
| 15:49217202:A:T | D52V | 0.998 |
| 15:49235903:T:A | W107R | 0.998 |
| 15:49235903:T:C | W107R | 0.998 |
| 15:49282050:G:C | D190H | 0.998 |
| 15:49282060:T:A | I193K | 0.998 |
| 15:49217193:A:T | E49V | 0.997 |
| 15:49217201:G:C | D52H | 0.997 |
| 15:49217202:A:C | D52A | 0.997 |
| 15:49217203:T:A | D52E | 0.997 |
| 15:49217203:T:G | D52E | 0.997 |
| 15:49239299:A:C | S146R | 0.997 |
| 15:49239301:C:A | S146R | 0.997 |
| 15:49239301:C:G | S146R | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000003640 (15:49235809 G>A), RS1000008209 (15:49358636 C>G,T), RS1000017721 (15:49306012 A>G), RS1000032296 (15:49217620 A>C,G,T), RS1000036230 (15:49328215 T>A), RS1000041699 (15:49280126 C>A), RS1000063705 (15:49357433 A>G), RS1000087799 (15:49266666 A>C), RS1000127130 (15:49183633 C>T), RS1000150421 (15:49265621 C>G,T), RS1000183190 (15:49363821 T>C), RS1000190135 (15:49210503 G>A,T), RS1000211049 (15:49200895 A>G), RS1000221810 (15:49243560 T>A,G), RS1000221955 (15:49167003 T>C)
Disease associations
OMIM: gene MIM:137028 | disease phenotypes: MIM:210900
GenCC curated gene-disease
Mondo (2): Bloom syndrome (MONDO:0008876), familial colorectal cancer (MONDO:0023113)
Orphanet (1): Bloom syndrome (Orphanet:125)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004744_32 | Lung adenocarcinoma | 3.000000e-12 |
| GCST004744_33 | Lung adenocarcinoma | 5.000000e-10 |
| GCST004748_34 | Lung cancer | 1.000000e-06 |
| GCST004749_39 | Lung cancer in ever smokers | 9.000000e-06 |
| GCST90002395_220 | Mean platelet volume | 1.000000e-12 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001816 | Bloom Syndrome | C16.131.077.137; C16.320.798.313; C18.452.284.100; C20.673.795.313 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
32 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Vehicle Emissions | increases abundance, increases expression, decreases expression, decreases reaction | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| Particulate Matter | decreases expression, decreases reaction, increases abundance, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| tungsten carbide | decreases expression, affects binding | 1 |
| testosterone enanthate | affects expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| quercitrin | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| cobaltous chloride | decreases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| tamibarotene | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | decreases expression | 1 |
| Cobalt | affects binding, decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Progesterone | increases expression | 1 |
| Tobacco Smoke Pollution | increases methylation | 1 |
| Tretinoin | decreases expression | 1 |
| Tunicamycin | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
Cellosaurus cell lines
5 cell lines: 3 cancer cell line, 2 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_DX01 | HAP1 GALK2 (-) 1 | Cancer cell line | Male |
| CVCL_DX02 | HAP1 GALK2 (-) 2 | Cancer cell line | Male |
| CVCL_DX36 | HAP1 GALK2 (-) NAGK (-) | Cancer cell line | Male |
| CVCL_VR13 | HEK293T GALK2 KO clone 7 | Transformed cell line | Female |
| CVCL_VR15 | HEK293T GALE+GALK2 KO clone 7 | Transformed cell line | Female |
Clinical trials (associated diseases)
10 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00021437 | Not specified | COMPLETED | Biological Significance of the Bloom’s Syndrome Protein |
| NCT04251325 | Not specified | UNKNOWN | Socio-demographic Characteristics of Basic Life Support Course Participants |
| NCT04353089 | Not specified | UNKNOWN | Geographical Association Between Basic Life Support Courses, Bystander Cardiopulmonary Resuscitation and Survival |
| NCT00349817 | Not specified | UNKNOWN | Genetics Education: Preparing Physicians for the Future |
| NCT02645084 | Not specified | COMPLETED | Identifying Patients With Hereditary and Familial Colorectal Cancer by Using an Online Risk Tool |
| NCT03365986 | Not specified | UNKNOWN | Systemic Screening for Hereditary Colorectal Cancer in China |
| NCT04197856 | Not specified | ACTIVE_NOT_RECRUITING | Direct Information to At-risk Relatives |
| NCT04280666 | Not specified | UNKNOWN | Next-generation Sequencing of Colorectal Cancer Somatic Cells to Guide Genetic Susceptibility Gene Mutations Screening. |
| NCT05495776 | Not specified | RECRUITING | Prospective Multicenter Registry Study to Assess the Frequency of Lynch Syndrome Among Patients With Colorectal Cancer |
| NCT07307664 | Not specified | RECRUITING | Increasing Germline Genetic Testing for Patients With Cancer |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Bloom syndrome, familial colorectal cancer