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Mmadhc Gene Detail
Summary
  • Symbol
    Mmadhc
  • Name
    methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
  • Synonyms
    2010311D03Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923786
    NCBI Gene: 109129
  • Gene Overview
    MyGene.info: MMADHC
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:50279881-50296801 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 28.92 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    44 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1923786
protein coding gene Chr2:50279881-50296817 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025726
protein coding gene Chr2:49509453-49526353 (-)
A/J MGP_AJ_G0025702
protein coding gene Chr2:47617193-47634113 (-)
AKR/J MGP_AKRJ_G0025672
protein coding gene Chr2:48986265-49003184 (-)
BALB/cJ MGP_BALBcJ_G0025697
protein coding gene Chr2:47737354-47754269 (-)
C3H/HeJ MGP_C3HHeJ_G0025458
protein coding gene Chr2:48958039-48975185 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026143
protein coding gene Chr2:50989601-51007403 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023549
protein coding gene Chr2:45658874-45676376 (-)
CAST/EiJ MGP_CASTEiJ_G0024923
protein coding gene Chr2:49046507-49063287 (-)
CBA/J MGP_CBAJ_G0025438
protein coding gene Chr2:52877453-52894123 (-)
DBA/2J MGP_DBA2J_G0025569
protein coding gene Chr2:47238236-47255429 (-)
FVB/NJ MGP_FVBNJ_G0025531
protein coding gene Chr2:46973283-46990872 (-)
LP/J MGP_LPJ_G0025657
protein coding gene Chr2:49417147-49434070 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025562
protein coding gene Chr2:53939692-53957310 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026201
protein coding gene Chr2:48883084-48900002 (-)
PWK/PhJ MGP_PWKPhJ_G0024664
protein coding gene Chr2:47131173-47148252 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024470
protein coding gene Chr2:49058741-49076243 (-)
WSB/EiJ MGP_WSBEiJ_G0024990
protein coding gene Chr2:49152246-49170041 (-)



Homology
more
  • Human Ortholog
    MMADHC, metabolism of cobalamin associated D
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MMADHC, metabolism of cobalamin associated D
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C2orf25, cblD, CL25022
  • Links
    NCBI Gene ID: 27249
    neXtProt AC: NX_Q9H3L0
    UniProt: Q9H3L0

  • Chr Location
    2q23.2; chr2:149569633-149587816 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 9248
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: MMADHC
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human MMADHC associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotype references
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000026766 Ensembl Gene Model | MGI Sequence Detail 16921 C57BL/6J ±  kb
transcript ENSMUST00000102769 Ensembl | MGI Sequence Detail 1342 Not Applicable  
polypeptide ENSMUSP00000099830 Ensembl | MGI Sequence Detail 296 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    3 Sequences
  • PDB
  • InterPro Domains
    IPR019362 Methylmalonic aciduria and homocystinuria type D protein
Molecular
Reagents
less
  • All nucleic 103
    cDNA 102
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:2138888
References
more
  • Summaries
    All 26
    Developmental Gene Expression 1
    Gene Ontology 1
    Phenotypes 5
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:174811 Pupavac M, et al., Expression of Mmachc and Mmadhc during mouse organogenesis. Mol Genet Metab. 2011 Aug;103(4):401-5

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory