BHMT2
gene geneOn this page
Summary
BHMT2 (betaine–homocysteine S-methyltransferase 2, HGNC:1048) is a protein-coding gene on chromosome 5q14.1, encoding S-methylmethionine–homocysteine S-methyltransferase BHMT2 (Q9H2M3). Involved in the regulation of homocysteine metabolism.
Homocysteine is a sulfur-containing amino acid that plays a crucial role in methylation reactions. Transfer of the methyl group from betaine to homocysteine creates methionine, which donates the methyl group to methylate DNA, proteins, lipids, and other intracellular metabolites. The protein encoded by this gene is one of two methyl transferases that can catalyze the transfer of the methyl group from betaine to homocysteine. Anomalies in homocysteine metabolism have been implicated in disorders ranging from vascular disease to neural tube birth defects such as spina bifida. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 23743 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 69 total
- Druggable target: yes
- MANE Select transcript:
NM_017614
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1048 |
| Approved symbol | BHMT2 |
| Name | betaine–homocysteine S-methyltransferase 2 |
| Location | 5q14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000132840 |
| Ensembl biotype | protein_coding |
| OMIM | 605932 |
| Entrez | 23743 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 13 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000255192, ENST00000518666, ENST00000518758, ENST00000519743, ENST00000521567, ENST00000523046, ENST00000523472, ENST00000896177, ENST00000896178, ENST00000896179, ENST00000896180, ENST00000896181, ENST00000896182, ENST00000896183, ENST00000896184, ENST00000896185, ENST00000896186
RefSeq mRNA: 2 — MANE Select: NM_017614
NM_001178005, NM_017614
CCDS: CCDS4045, CCDS54871
Canonical transcript exons
ENST00000255192 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000971653 | 79083192 | 79083374 |
| ENSE00002115751 | 79088493 | 79090069 |
| ENSE00002505369 | 79083628 | 79083856 |
| ENSE00003561740 | 79077480 | 79077612 |
| ENSE00003561989 | 79069767 | 79069815 |
| ENSE00003640609 | 79080687 | 79080878 |
| ENSE00003684127 | 79082809 | 79082956 |
| ENSE00003694684 | 79079369 | 79079460 |
Expression profiles
Bgee: expression breadth ubiquitous, 237 present calls, max score 99.16.
FANTOM5 (CAGE): breadth broad, TPM avg 4.6244 / max 515.7169, expressed in 596 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 57230 | 3.1159 | 417 |
| 57229 | 0.7740 | 321 |
| 57227 | 0.6726 | 336 |
| 57228 | 0.0619 | 32 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| renal medulla | UBERON:0000362 | 99.16 | gold quality |
| right lobe of liver | UBERON:0001114 | 99.11 | gold quality |
| liver | UBERON:0002107 | 98.67 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 98.63 | gold quality |
| metanephros cortex | UBERON:0010533 | 97.95 | gold quality |
| nephron tubule | UBERON:0001231 | 97.50 | gold quality |
| kidney epithelium | UBERON:0004819 | 96.52 | gold quality |
| adult organism | UBERON:0007023 | 96.32 | gold quality |
| kidney | UBERON:0002113 | 96.11 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.58 | gold quality |
| lower esophagus | UBERON:0013473 | 95.52 | gold quality |
| caput epididymis | UBERON:0004358 | 95.23 | gold quality |
| renal glomerulus | UBERON:0000074 | 93.98 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.51 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.48 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 93.47 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 93.45 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 93.43 | gold quality |
| cortex of kidney | UBERON:0001225 | 92.85 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.71 | gold quality |
| corpus epididymis | UBERON:0004359 | 92.28 | gold quality |
| tibial nerve | UBERON:0001323 | 91.60 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 91.54 | gold quality |
| thyroid gland | UBERON:0002046 | 91.48 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 91.38 | gold quality |
| metanephros | UBERON:0000081 | 91.15 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.76 | gold quality |
| adipose tissue | UBERON:0001013 | 90.75 | gold quality |
| thoracic aorta | UBERON:0001515 | 90.70 | gold quality |
| left adrenal gland | UBERON:0001234 | 90.58 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 46.15 |
| E-CURD-135 | no | 1573.07 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
55 targeting BHMT2, 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-3064-3P | 100.00 | 70.09 | 1254 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-548M | 99.70 | 68.87 | 1749 |
| HSA-MIR-548BA | 99.69 | 69.14 | 1514 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-7152-5P | 99.60 | 69.33 | 2094 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-6165 | 99.44 | 67.12 | 1389 |
| HSA-MIR-501-3P | 99.33 | 66.12 | 651 |
| HSA-MIR-502-3P | 99.33 | 66.12 | 651 |
| HSA-MIR-5190 | 99.15 | 67.76 | 1234 |
| HSA-MIR-6510-5P | 99.14 | 66.59 | 1081 |
| HSA-MIR-1253 | 99.12 | 67.08 | 1688 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-6506-5P | 99.04 | 65.66 | 1386 |
| HSA-MIR-7151-3P | 99.04 | 69.72 | 2370 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
Literature-anchored findings (GeneRIF, showing 10)
- Hyperhomocysteinemia, a risk factor for coronary diseases, can be caused by genetic mutations in BHMT2 metabolism. (PMID:12818402)
- Betaine-homocysteine S-methyltransferase-2 is an S-methylmethionine-homocysteine methyltransferase. (PMID:18230605)
- Common genetic variation in BHMT and BHMT2 and functionally characterized BHMT SNPs. (PMID:18457970)
- gene-gene interaction analysis revealed a significant epistatic interaction of BHMT2 (rs673752), PEMT (rs12325817), and PCYT1A (rs712012) with maternal NCL/P susceptibility. (PMID:20662904)
- No significant level of association was found with cleft lip with or without cleft palate and BHMT2 variants. (PMID:21564312)
- Multiple SNPs in BHMT and BHMT2 were identified to be associated with the occurrence of infant obstructive heart defects and interaction effects with maternal use of folic acid supplements. (PMID:25846410)
- The faster evolutionary rate of BHMT2 overall suggests that selective constraints were reduced relative to BHMT. (PMID:26213999)
- A three-way interaction among maternal and fetal variants in BHMT2, GSTP1 and GPX3 contribute to congenital heart defects (PMID:26612412)
- Our study suggested markers in BHMT/BHMT2 and DMGDH might affect the risk of NSCL/P through pairwise interaction. (PMID:29356306)
- Association of Maternal Betaine-Homocysteine Methyltransferase (BHMT) and BHMT2 Genes Polymorphisms with Congenital Heart Disease in Offspring. (PMID:35835902)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bhmt | ENSDARG00000013430 |
| mus_musculus | Bhmt2 | ENSMUSG00000042118 |
| rattus_norvegicus | Bhmt2 | ENSRNOG00000040120 |
Paralogs (4): MTR (ENSG00000116984), UROD (ENSG00000126088), BHMT (ENSG00000145692), MTHFR (ENSG00000177000)
Protein
Protein identifiers
S-methylmethionine–homocysteine S-methyltransferase BHMT2 — Q9H2M3 (reviewed: Q9H2M3)
Alternative names: Betaine–homocysteine S-methyltransferase 2
All UniProt accessions (3): E5RGH5, E5RH96, Q9H2M3
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor.
Subunit / interactions. Homotetramer. May interact with PRNP.
Tissue specificity. Expressed in liver and kidney and at reduced levels in the brain, heart, and skeletal muscle.
Cofactor. Binds 1 zinc ion per subunit.
Pathway. Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine (BhmT route): step 1/1.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H2M3-1 | 1 | yes |
| Q9H2M3-2 | 2 |
RefSeq proteins (2): NP_001171476, NP_060084* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003726 | HCY_dom | Domain |
| IPR017226 | BHMT-like | Family |
| IPR036589 | HCY_dom_sf | Homologous_superfamily |
| IPR051524 | BHMT | Family |
Pfam: PF02574
Catalyzed reactions (Rhea), 1 shown:
- S-methyl-L-methionine + L-homocysteine = 2 L-methionine + H(+) (RHEA:26337)
UniProt features (7 total): binding site 3, chain 1, domain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H2M3-F1 | 95.82 | 0.92 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 208; 290; 291
Post-translational modifications (1): 321
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1614635 | Sulfur amino acid metabolism |
| 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, GOBP_AMINO_ACID_BIOSYNTHETIC_PROCESS, GOBP_ASPARTATE_FAMILY_AMINO_ACID_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_S_ADENOSYLMETHIONINE_METABOLIC_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_METHIONINE_BIOSYNTHETIC_PROCESS, GOBP_METHIONINE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_AMINO_ACID_BETAINE_METABOLIC_PROCESS, GOBP_SULFUR_AMINO_ACID_METABOLIC_PROCESS, GOBP_METHYLATION
GO Biological Process (6): methylation (GO:0032259), S-methylmethionine metabolic process (GO:0033477), S-adenosylmethionine metabolic process (GO:0046500), L-methionine salvage (GO:0071267), modified amino acid metabolic process (GO:0006575), obsolete methionine biosynthetic process (GO:0009086)
GO Molecular Function (6): zinc ion binding (GO:0008270), S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627), methyltransferase activity (GO:0008168), S-methyltransferase activity (GO:0008172), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (2): cytosol (GO:0005829), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of amino acids and derivatives | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metabolic process | 2 |
| sulfur compound metabolic process | 2 |
| modified amino acid metabolic process | 1 |
| amino acid salvage | 1 |
| L-methionine biosynthetic process | 1 |
| transition metal ion binding | 1 |
| S-methyltransferase activity | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| methyltransferase activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1274 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BHMT2 | DMGDH | Q9UI17 | 814 |
| BHMT2 | MTRR | Q9UBK8 | 795 |
| BHMT2 | MTHFR | P42898 | 672 |
| BHMT2 | AHCY | P23526 | 661 |
| BHMT2 | P0DN79 | P0DN79 | 659 |
| BHMT2 | H7C2H4 | H7C2H4 | 658 |
| BHMT2 | MAT1A | Q00266 | 636 |
| BHMT2 | SHMT1 | P34896 | 625 |
| BHMT2 | MTHFD1 | P11586 | 622 |
| BHMT2 | AHCYL2 | Q96HN2 | 559 |
| BHMT2 | GNMT | Q14749 | 542 |
| BHMT2 | CTH | P32929 | 534 |
| BHMT2 | TCN2 | P20062 | 527 |
| BHMT2 | MTR | Q99707 | 525 |
| BHMT2 | ENOPH1 | Q9UHY7 | 524 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| BHMT2 | INPPL1 | psi-mi:“MI:0914”(association) | 0.530 |
| BHMT | BHMT2 | psi-mi:“MI:0914”(association) | 0.530 |
| BHMT2 | GAPDHS | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (13): BHMT (Affinity Capture-MS), INPPL1 (Affinity Capture-MS), TBCE (Affinity Capture-MS), BHMT2 (Affinity Capture-MS), TBCE (Affinity Capture-MS), INPPL1 (Affinity Capture-MS), BHMT2 (Affinity Capture-MS), INPPL1 (Affinity Capture-MS), BHMT2 (Affinity Capture-MS), BIRC7 (Affinity Capture-MS), TBCE (Affinity Capture-MS), GAPDHS (Affinity Capture-MS), APP (Reconstituted Complex)
ESM2 similar proteins: A0A1S4BZI5, A7M6E7, A7M6E8, B4G0F3, B8BKI7, B9SQI7, C6JS30, F4JGR5, F4JP46, F4JVN6, O04015, O04226, O65361, O80574, O95394, P11172, P31754, P32296, P69060, Q10P67, Q10S55, Q28EN2, Q2R483, Q32LQ4, Q3SZM5, Q53JY8, Q5R514, Q5R6R5, Q5RAK7, Q5RF32, Q5XGM3, Q6P6M7, Q6STH5, Q8GSJ1, Q8LAX0, Q8LB01, Q8NFW8, Q90WG6, Q91WS4, Q94A08
Diamond homologs: O06745, O09171, O33259, O33465, P13009, P37586, Q49775, Q55786, Q5M8Z0, Q5RF32, Q95332, Q9AJQ8, Q9H2M3, O35490, Q32LQ4, Q5I597, Q5RFG2, Q5XGM3, Q68FT5, Q91WS4, Q93088
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
69 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 59 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1120 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:79069813:AAGGT:A | donor_loss | 1.0000 |
| 5:79069814:AGGTG:A | donor_loss | 1.0000 |
| 5:79069815:GGTG:G | donor_loss | 1.0000 |
| 5:79069816:GTG:G | donor_loss | 1.0000 |
| 5:79079342:A:AG | acceptor_gain | 1.0000 |
| 5:79083188:ACAG:A | acceptor_gain | 1.0000 |
| 5:79083188:ACAGG:A | acceptor_gain | 1.0000 |
| 5:79069812:GAAG:G | donor_gain | 0.9900 |
| 5:79069817:T:G | donor_loss | 0.9900 |
| 5:79079342:AAT:A | acceptor_gain | 0.9900 |
| 5:79079343:A:G | acceptor_gain | 0.9900 |
| 5:79079344:T:G | acceptor_gain | 0.9900 |
| 5:79079349:A:AG | acceptor_gain | 0.9900 |
| 5:79079350:A:G | acceptor_gain | 0.9900 |
| 5:79083186:GCACA:G | acceptor_loss | 0.9900 |
| 5:79083187:CACAG:C | acceptor_loss | 0.9900 |
| 5:79083189:C:G | acceptor_gain | 0.9900 |
| 5:79083189:CA:C | acceptor_loss | 0.9900 |
| 5:79083190:A:AC | acceptor_loss | 0.9900 |
| 5:79083190:A:AG | acceptor_gain | 0.9900 |
| 5:79083190:AG:A | acceptor_gain | 0.9900 |
| 5:79083190:AGG:A | acceptor_gain | 0.9900 |
| 5:79083190:AGGG:A | acceptor_gain | 0.9900 |
| 5:79083191:G:GG | acceptor_gain | 0.9900 |
| 5:79083191:GG:G | acceptor_gain | 0.9900 |
| 5:79083191:GGG:G | acceptor_gain | 0.9900 |
| 5:79083191:GGGG:G | acceptor_gain | 0.9900 |
| 5:79083263:G:GT | donor_gain | 0.9900 |
| 5:79083266:GGTCT:G | donor_gain | 0.9900 |
| 5:79069816:G:GG | donor_gain | 0.9800 |
AlphaMissense
2378 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:79077528:A:C | S28R | 0.985 |
| 5:79077530:C:A | S28R | 0.985 |
| 5:79077530:C:G | S28R | 0.985 |
| 5:79079369:T:A | V56D | 0.978 |
| 5:79079428:T:C | F76L | 0.974 |
| 5:79079430:T:A | F76L | 0.974 |
| 5:79079430:T:G | F76L | 0.974 |
| 5:79079398:G:C | A66P | 0.967 |
| 5:79079411:T:A | V70D | 0.966 |
| 5:79079389:T:C | F63L | 0.965 |
| 5:79079391:C:A | F63L | 0.965 |
| 5:79079391:C:G | F63L | 0.965 |
| 5:79080709:C:A | A94D | 0.965 |
| 5:79083712:G:A | G289E | 0.961 |
| 5:79083743:G:C | R299S | 0.961 |
| 5:79083743:G:T | R299S | 0.961 |
| 5:79083744:G:C | A300P | 0.961 |
| 5:79080757:C:A | A110E | 0.960 |
| 5:79079378:T:C | L59P | 0.959 |
| 5:79083214:C:A | N207K | 0.958 |
| 5:79083214:C:G | N207K | 0.958 |
| 5:79077520:G:A | G25E | 0.955 |
| 5:79083236:A:C | S215R | 0.955 |
| 5:79083238:C:A | S215R | 0.955 |
| 5:79083238:C:G | S215R | 0.955 |
| 5:79083653:A:C | R269S | 0.955 |
| 5:79083653:A:T | R269S | 0.955 |
| 5:79088511:G:C | W343C | 0.955 |
| 5:79088511:G:T | W343C | 0.955 |
| 5:79083760:T:C | L305P | 0.954 |
dbSNP variants (sampled 300 via entrez): RS1000004663 (5:79071837 A>C,T), RS1000092160 (5:79076776 C>T), RS1000144343 (5:79076453 G>C,T), RS1000241362 (5:79071343 A>G), RS1000287640 (5:79084025 A>G), RS1000303490 (5:79083492 T>G), RS1000581075 (5:79082060 G>A), RS1000888109 (5:79082563 G>A), RS1001057054 (5:79076048 G>A), RS1001657569 (5:79087730 G>A), RS1001757983 (5:79075092 G>A), RS1001810317 (5:79074729 C>A,T), RS1002090090 (5:79073533 G>A), RS1002141602 (5:79087943 G>C), RS1002270042 (5:79068974 T>C)
Disease associations
OMIM: gene MIM:605932 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001852_5 | Metabolite levels | 2.000000e-09 |
| GCST002039_10 | Blood trace element (Se levels) | 8.000000e-12 |
| GCST002039_2 | Blood trace element (Se levels) | 9.000000e-28 |
| GCST002670_1 | Blood and toenail selenium levels | 2.000000e-39 |
| GCST002670_10 | Blood and toenail selenium levels | 8.000000e-20 |
| GCST002670_2 | Blood and toenail selenium levels | 6.000000e-11 |
| GCST002670_7 | Blood and toenail selenium levels | 2.000000e-15 |
| GCST002670_8 | Blood and toenail selenium levels | 2.000000e-11 |
| GCST002670_9 | Blood and toenail selenium levels | 1.000000e-36 |
| GCST002671_15 | Toenail selenium levels | 3.000000e-13 |
| GCST002671_16 | Toenail selenium levels | 5.000000e-06 |
| GCST002671_5 | Toenail selenium levels | 1.000000e-16 |
| GCST002671_6 | Toenail selenium levels | 2.000000e-11 |
| GCST003358_1 | Betaine levels in individuals undergoing cardiac evaluation | 7.000000e-13 |
| GCST006997_1 | Cerebrospinal fluid t-tau levels in mild cognitive impairment | 2.000000e-07 |
| GCST009391_144 | Metabolite levels | 7.000000e-33 |
| GCST012020_108 | Serum metabolite levels | 2.000000e-19 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004471 | insulin sensitivity measurement |
| EFO:0007787 | plasma betaine measurement |
| EFO:0004760 | t-tau measurement |
| EFO:0010476 | dimethylglycine measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (2): CHEMBL2163167 (SINGLE PROTEIN), CHEMBL3391661 (PROTEIN FAMILY)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.11 | Ki | 77 | nM | CHEMBL2164724 |
| 5.44 | IC50 | 3600 | nM | CHEMBL2164724 |
PubChem BioAssay actives
2 with measured affinity, of 11 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-amino-7-[(3S)-3-amino-3-carboxypropyl]sulfanyl-5-methylheptanoic acid | 697235: Competitive inhibition of recombinant human BHMT2 expressed in Escherichia coli BL31(DE3) by Dixon plot method in presence of D,L-homocysteine | ki | 0.0770 | uM |
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, decreases methylation, increases expression, increases methylation | 5 |
| sodium arsenite | increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| Cyclosporine | increases expression, decreases expression | 2 |
| Aflatoxin B1 | affects expression, decreases methylation | 2 |
| testosterone enanthate | affects expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| bisphenol A | increases expression | 1 |
| ethyl-p-hydroxybenzoate | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Indomethacin | decreases expression, affects cotreatment | 1 |
| Methionine | decreases reaction, increases metabolic processing | 1 |
| Quercetin | decreases expression | 1 |
| S-Adenosylmethionine | decreases reaction, increases metabolic processing | 1 |
| Valproic Acid | decreases expression | 1 |
| Vitamin U | increases metabolic processing, decreases reaction | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | increases 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 |
|---|---|---|---|
| CHEMBL2166486 | Binding | Inhibition of recombinant human BHMT2 expressed in Escherichia coli BL31(DE3) at 20 uM | Double-headed sulfur-linked amino acids as first inhibitors for betaine-homocysteine S-methyltransferase 2. — J Med Chem |
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.