login
register
GSEA Home
Downloads
Molecular Signatures Database
Documentation
Contact
Team
MSigDB Home
Human Collections
About
Browse
Search
Investigate
Gene Families
Mouse Collections
About
Browse
Search
Investigate
Help
Human Gene Set: REACTOME_DEFECTS_IN_COBALAMIN_B12_METABOLISM
Standard name
REACTOME_DEFECTS_IN_COBALAMIN_B12_METABOLISM
Systematic name
M27242
Brief description
Defects in cobalamin (B12) metabolism
Full description or abstract
Collection
C2: Curated
CP: Canonical Pathways
CP:REACTOME: Reactome Pathways
Source publication
Exact source
R-HSA-3296469
Related gene sets
External links
https://www.reactome.org/content/detail/R-HSA-3296469
Filtered by similarity
?
Source species
Homo sapiens
Contributed by
Reactome
Source platform or
identifier namespace
Human_Ensembl_Gene_ID
Dataset references
Download gene set
format:
grp
|
gmt
|
xml
|
json
|
TSV metadata
Compute overlaps
?
(
show
collections to investigate for overlap with this gene set)
H: Hallmark
C1: Positional
C2: Curated
CGP: Chemical and Genetic Perturbations
CP: Canonical Pathways
CP:BIOCARTA: BioCarta Pathways
CP:KEGG_MEDICUS: KEGG Medicus Pathways
CP:PID: PID Pathways
CP:REACTOME: Reactome Pathways
CP:WIKIPATHWAYS: WikiPathways
CP:KEGG_LEGACY: KEGG Legacy Pathways
C3: Regulatory Target
MIR: microRNA Targets
MIR:MIRDB: miRDB
MIR:MIR_LEGACY: MIR_Legacy
TFT: Transcription Factor Targets
TFT:GTRD: GTRD
TFT:TFT_LEGACY: TFT_Legacy
C4: Computational
3CA: Curated Cancer Cell Atlas gene sets
CGN: Cancer Gene Neighborhoods
CM: Cancer Modules
C5: Ontology
GO: Gene Ontology
GO:BP: GO Biological Process
GO:CC: GO Cellular Component
GO:MF: GO Molecular Function
HPO: Human Phenotype Ontology
C6: Oncogenic Signature
C7: Immunologic Signature
IMMUNESIGDB: ImmuneSigDB
VAX: HIPC Vaccine Response
C8: Cell Type Signature
Compendia expression profiles
?
NG-CHM interactive heatmaps
(
Please note that clustering takes a few seconds
)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query
Further investigate
these 14 genes
Gene families
?
Categorize
these 14 genes by gene family
Show members
(
show
14 source identifiers mapped to 14 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
ENSG00000107611
8029
CUBN
cubilin [Source:HGNC Symbol;Acc:HGN...
ENSG00000116984
4548
MTR
5-methyltetrahydrofolate-homocystei...
ENSG00000119688
5826
ABCD4
ATP binding cassette subfamily D me...
ENSG00000124275
4552
MTRR
5-methyltetrahydrofolate-homocystei...
ENSG00000132763
25974
MMACHC
metabolism of cobalamin associated ...
ENSG00000134812
2694
CBLIF
cobalamin binding intrinsic factor ...
ENSG00000139428
326625
MMAB
metabolism of cobalamin associated ...
ENSG00000146085
4594
MMUT
methylmalonyl-CoA mutase [Source:HG...
ENSG00000151611
166785
MMAA
metabolism of cobalamin associated ...
ENSG00000166126
81693
AMN
amnion associated transmembrane pro...
ENSG00000167775
51293
CD320
CD320 molecule [Source:HGNC Symbol;...
ENSG00000168216
55788
LMBRD1
LMBR1 domain containing 1 [Source:H...
ENSG00000168288
27249
MMADHC
metabolism of cobalamin associated ...
ENSG00000185339
6948
TCN2
transcobalamin 2 [Source:HGNC Symbo...
Version history
2024.1.Hs: Updated to Reactome v89
See
MSigDB license terms here
. Please note that certain gene sets have special access terms.