Bhmt1b Gene Detail

Summary

• Symbol
  Bhmt1b
• Name
  betaine--homocysteine S-methyltransferase 1B
• Synonyms
  Gm5096

• Feature Type
  protein coding gene
  BioType Conflict
  
• IDs
  MGI:3643681
  NCBI Gene: 329008
• Alliance
  gene page
• Transcription Start Sites
  2 TSS

Location &
Maps

• Sequence Map
  Chr18:87774410-87776275 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 18, 58.63 cM
• Mapping Data
  1 experiment

Strain
Comparison

• SNPs within 2kb
  103 from dbSNP Build 142
• Strain Annotations
  11

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3643681	protein coding gene	Chr18:87774410-87776278 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028106	protein coding gene	Chr4:23501774-23502638 (-)
A/J	MGP_AJ_G0028064	protein coding gene	Chr4:22825895-22827451 (-)
AKR/J	MGP_AKRJ_G0020753	protein coding gene	Chr13:94228187-94238761 (-)
BALB/cJ	MGP_BALBcJ_G0020776	protein coding gene	Chr13:92081600-92088014 (-)
C3H/HeJ	MGP_C3HHeJ_G0027805	protein coding gene	Chr4:23518647-23520581 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025027	protein coding gene	Chr18:91331811-91333629 (+)
CAROLI/EiJ	no annotation
CAST/EiJ	no annotation
CBA/J	no annotation
DBA/2J	MGP_DBA2J_G0027921	protein coding gene	Chr4:22747532-22751836 (-)
FVB/NJ	MGP_FVBNJ_G0020635	protein coding gene	Chr13:90016772-90031996 (-)
LP/J	MGP_LPJ_G0020727	protein coding gene	Chr13:95096952-95109976 (-)
NOD/ShiLtJ	no annotation
NZO/HlLtJ	no annotation
PWK/PhJ	no annotation
SPRET/EiJ	MGP_SPRETEiJ_G0023373	protein coding gene	Chr18:87939209-87940556 (+)
WSB/EiJ	no annotation

Homology

• Human Ortholog
  BHMT, betaine--homocysteine S-methyltransferase

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  BHMT, betaine--homocysteine S-methyltransferase
  
• Synonyms
  BHMT1, HEL-S-61p
• Links
  HGNC:1047

  NCBI Gene ID: 635

  UniProt: Q93088

  
  
• Chr Location
  5q14.1; chr5:79111809-79132288 (+)  GRCh38

---

• MGI Vertebrate Homology
  Bhmt1b stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: BHMT
• Gene Tree
  Bhmt1b
  

Human Diseases

• Diseases
  2 with human BHMT associations

				Human Disease	Mouse Models
				cerebral infarction IDs cerebral infarction       DOID:3526 ICD10CM:I63 MESH:D002544 NCI:C50486 OMIM:601367 UMLS_CUI:C0007785
				pulmonary embolism IDs pulmonary embolism       DOID:9477 ICD10CM:I26 MESH:D011655 NCI:C50713 UMLS_CUI:C0034065

Click on a disease name to see all genes associated with that disease.

Expression

• Assay Results
  706

Tissue x Stage Matrix

• Other Mouse Links
  Expression Atlas

Sequences &
Gene Models

• All Sequences
  16
• RefSeq
  1

• Ensembl
  ENSMUSG00000069324 (Evidence)
• NCBI Gene
  329008

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000069324	Ensembl Gene Model | MGI Sequence Detail	1866	C57BL/6J
transcript	ENSMUST00000091776	Ensembl | MGI Sequence Detail	1866	Not Applicable
polypeptide	ENSMUSP00000135956	Ensembl | MGI Sequence Detail	407	Not Applicable

Other
Accession IDs

MGI:7280676

References

• Summaries
  All 5
• Earliest
  J:62863 Neece DJ, et al., Isolation and characterization of a mouse betaine-homocysteine S-methyltransferase gene and pseudogene. Gene. 2000 May 30;250(1-2):31-40

TSS for Bhmt1b:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr152262	Chr18:87774404-87774412 (+)	-2 bp
Tssr152263	Chr18:87775817-87775821 (+)	1,409 bp