Details for: BHMT2

Gene ID: 23743

Symbol: BHMT2

Ensembl ID: ENSG00000132840

Description: betaine--homocysteine S-methyltransferase 2

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.18
    Marker Score: 7,745
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 2.07
    Marker Score: 6,771
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 2.06
    Marker Score: 5,919
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.86
    Marker Score: 1,712
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.82
    Marker Score: 9,767
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.81
    Marker Score: 11,666
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.7
    Marker Score: 7,326
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.61
    Marker Score: 6,734
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1,169
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.48
    Marker Score: 717
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.38
    Marker Score: 402
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 869
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 855
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.25
    Marker Score: 963
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.17
    Marker Score: 270
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.15
    Marker Score: 7,666
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4,814
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.1
    Marker Score: 2,408
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.09
    Marker Score: 502
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,825
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,049
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.96
    Marker Score: 974
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,346
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.93
    Marker Score: 387
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.93
    Marker Score: 2,348
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 373
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.92
    Marker Score: 627
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2,743
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.89
    Marker Score: 2,390
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.88
    Marker Score: 2,076
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,296
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.86
    Marker Score: 213
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.85
    Marker Score: 983
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.82
    Marker Score: 628
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.78
    Marker Score: 438
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,261
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 707
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.76
    Marker Score: 10,096
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.75
    Marker Score: 273
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 461
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.72
    Marker Score: 7,433
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.72
    Marker Score: 767
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.66
    Marker Score: 1,264
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.65
    Marker Score: 246
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.64
    Marker Score: 907
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.6
    Marker Score: 343
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.56
    Marker Score: 12,007
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.54
    Marker Score: 197
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.53
    Marker Score: 575
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.5
    Marker Score: 5,667
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.5
    Marker Score: 131
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.5
    Marker Score: 7,752
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.49
    Marker Score: 156
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 474
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.46
    Marker Score: 436
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.45
    Marker Score: 152
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.43
    Marker Score: 274
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.43
    Marker Score: 658
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.42
    Marker Score: 276
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.41
    Marker Score: 217
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.41
    Marker Score: 407
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.39
    Marker Score: 748
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.39
    Marker Score: 1,382
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.39
    Marker Score: 644
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.38
    Marker Score: 660
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.38
    Marker Score: 12,834
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.38
    Marker Score: 377
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.36
    Marker Score: 158
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.33
    Marker Score: 354
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.33
    Marker Score: 124
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.33
    Marker Score: 3,145
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.33
    Marker Score: 5,856
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.32
    Marker Score: 496
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.32
    Marker Score: 19,748
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.32
    Marker Score: 275
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.31
    Marker Score: 265
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.31
    Marker Score: 299
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.3
    Marker Score: 305
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.3
    Marker Score: 77
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.29
    Marker Score: 122
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.29
    Marker Score: 1,751
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.28
    Marker Score: 332
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.28
    Marker Score: 175
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.28
    Marker Score: 74
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.28
    Marker Score: 184
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.27
    Marker Score: 86
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.27
    Marker Score: 292
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.27
    Marker Score: 548
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.26
    Marker Score: 255
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.26
    Marker Score: 372
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 0.25
    Marker Score: 57

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** BHMT2 is a cytosolic enzyme that catalyzes the transfer of a methyl group from S-adenosylmethionine (SAMe) to homocysteine, resulting in the formation of betaine. This reaction is a critical step in the methylation cycle, which is essential for various cellular processes, including DNA methylation, histone modification, and protein synthesis. BHMT2 is also involved in the regulation of homocysteine levels, which can impact cardiovascular health and neurological function. Notably, BHMT2 is distinct from other homocysteine-methyltransferases, such as methionine synthase, which utilize folate as a cofactor. **Pathways and Functions:** BHMT2 is integral to several metabolic pathways, including: 1. **Amino acid metabolism:** BHMT2 plays a role in the metabolism of sulfur amino acids, such as methionine and homocysteine, which are essential for protein synthesis and other cellular processes. 2. **Methylation:** BHMT2 is involved in the methylation of homocysteine to form betaine, which is a critical step in the regulation of cellular methylation processes. 3. **S-adenosylmethionine (SAMe) metabolism:** BHMT2 is responsible for the degradation of SAMe, which is a key methyl donor in various cellular processes. 4. **L-methionine salvage:** BHMT2 participates in the salvage pathway for L-methionine, which involves the regeneration of methionine from homocysteine. **Clinical Significance:** BHMT2 has significant implications for various diseases and disorders, including: 1. **Homocysteinemia:** Elevated levels of homocysteine are associated with an increased risk of cardiovascular disease, stroke, and cognitive decline. 2. **Methylation disorders:** Dysregulation of BHMT2 activity can impact methylation processes, leading to disorders such as autism, schizophrenia, and cancer. 3. **Metabolic disorders:** BHMT2 has been implicated in metabolic disorders, including obesity, type 2 diabetes, and metabolic syndrome. 4. **Neurological disorders:** BHMT2 has been linked to neurological disorders, such as Alzheimer's disease, Parkinson's disease, and multiple sclerosis. In conclusion, BHMT2 is a critical enzyme involved in various metabolic pathways, including amino acid metabolism, methylation, and sulfur amino acid metabolism. Its dysregulation can have significant implications for human health, highlighting the importance of further research into the functions and clinical significance of this enzyme.

Genular Protein ID: 353168698

Symbol: BHMT2_HUMAN

Name: S-methylmethionine--homocysteine S-methyltransferase BHMT2

UniProtKB Accession Codes:

Q9H2M3 B7Z516 Q9NXX7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChEBI 8 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 2 EMBL 5 Ensembl 2 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIRSF 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 1 RefSeq 2 Rhea 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 11087663

Title: Betaine-homocysteine methyltransferase-2: cDNA cloning, gene sequence, physical mapping, and expression of the human and mouse genes.

PubMed ID: 11087663

DOI: 10.1006/geno.2000.6319

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18230605

Title: Betaine-homocysteine S-methyltransferase-2 is an S-methylmethionine-homocysteine methyltransferase.

PubMed ID: 18230605

DOI: 10.1074/jbc.m710449200

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 363
  • Mass: 40354
  • Checksum: 92D35414D2D56003
  • Sequence:
    • MAPAGRPGAK KGILERLESG EVVIGDGSFL ITLEKRGYVK AGLWTPEAVI EHPDAVRQLH 
MEFLRAGSNV MQTFTFSASE DNMESKWEDV NAAACDLARE VAGKGDALVA GGICQTSIYK 
YQKDEARIKK LFRQQLEVFA WKNVDFLIAE YFEHVEEAVW AVEVLKESDR PVAVTMCIGP 
EGDMHDITPG ECAVRLVKAG ASIVGVNCRF GPDTSLKTME LMKEGLEWAG LKAHLMVQPL 
GFHAPDCGKE GFVDLPEYPF GLESRVATRW DIQKYAREAY NLGVRYIGGC CGFEPYHIRA 
IAEELAPERG FLPPASEKHG SWGSGLDMHT KPWIRARARR EYWENLLPAS GRPFCPSLSK 
PDF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.