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Aliases for MMADHC Gene

Aliases for MMADHC Gene

  • Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, With Homocystinuria 2 3
  • C2orf25 3 4
  • CL25022 3 4
  • Methylmalonic Aciduria And Homocystinuria Type D Protein, Mitochondrial 3
  • Chromosome 2 Open Reading Frame 25 2
  • Protein C2orf25, Mitochondrial 3
  • C2orf25, 6
  • CblD 3

External Ids for MMADHC Gene

Previous Symbols for MMADHC Gene

  • C2orf25

Summaries for MMADHC Gene

Entrez Gene Summary for MMADHC Gene

  • This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]

GeneCards Summary for MMADHC Gene

MMADHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblD Type, With Homocystinuria) is a Protein Coding gene. Diseases associated with MMADHC include methylmalonic aciduria and homocystinuria, cbld type and methylmalonicacidemia with homocystinuria cbl d. Among its related pathways are Disease and Metabolism.

UniProtKB/Swiss-Prot for MMADHC Gene

  • Involved in cobalamin metabolism.

Gene Wiki entry for MMADHC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMADHC Gene

Genomics for MMADHC Gene

Genomic Location for MMADHC Gene

Start:
149,569,633 bp from pter
End:
149,587,816 bp from pter
Size:
18,184 bases
Orientation:
Minus strand

Genomic View for MMADHC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MMADHC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMADHC Gene

Regulatory Elements for MMADHC Gene

Proteins for MMADHC Gene

  • Protein details for MMADHC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3L0-MMAD_HUMAN
    Recommended name:
    Methylmalonic aciduria and homocystinuria type D protein, mitochondrial
    Protein Accession:
    Q9H3L0
    Secondary Accessions:
    • B2R895
    • D3DP91
    • O95891

    Protein attributes for MMADHC Gene

    Size:
    296 amino acids
    Molecular mass:
    32940 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG43124.1; Type=Frameshift; Positions=171, 178, 185, 188, 200; Evidence={ECO:0000305};

neXtProt entry for MMADHC Gene

Proteomics data for MMADHC Gene at MOPED

Post-translational modifications for MMADHC Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MMADHC Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MMADHC Gene

Domains for MMADHC Gene

Protein Domains for MMADHC Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MMADHC Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MMADHC: view

No data available for Gene Families and UniProtKB/Swiss-Prot for MMADHC Gene

Function for MMADHC Gene

Molecular function for MMADHC Gene

UniProtKB/Swiss-Prot Function: Involved in cobalamin metabolism.

Phenotypes for MMADHC Gene

genes like me logo Genes that share phenotypes with MMADHC: view

miRNA for MMADHC Gene

miRTarBase miRNAs that target MMADHC

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targeting and HOMER Transcription for MMADHC Gene

Localization for MMADHC Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMADHC Gene

Cytoplasm. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MMADHC Gene COMPARTMENTS Subcellular localization image for MMADHC gene
Compartment Confidence
mitochondrion 3
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MMADHC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MMADHC: view

Pathways for MMADHC Gene

genes like me logo Genes that share pathways with MMADHC: view

Interacting Proteins for MMADHC Gene

Gene Ontology (GO) - Biological Process for MMADHC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0009235 cobalamin metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with MMADHC: view

Transcripts for MMADHC Gene

mRNA/cDNA for MMADHC Gene

Unigene Clusters for MMADHC Gene

Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MMADHC Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: - - -
SP2:
SP3: - -
SP4: - -
SP5: -
SP6: - -

Relevant External Links for MMADHC Gene

GeneLoc Exon Structure for
MMADHC
ECgene alternative splicing isoforms for
MMADHC

Expression for MMADHC Gene

mRNA expression in normal human tissues for MMADHC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MMADHC Gene

SOURCE GeneReport for Unigene cluster for MMADHC Gene Hs.5324

mRNA Expression by UniProt/SwissProt for MMADHC Gene

Q9H3L0-MMAD_HUMAN
Tissue specificity: Widely expressed at high levels.
genes like me logo Genes that share expressions with MMADHC: view

No data available for mRNA differential expression in normal tissues for MMADHC Gene

Orthologs for MMADHC Gene

This gene was present in the common ancestor of animals.

Orthologs for MMADHC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MMADHC 35
  • 99.66 (n)
  • 100 (a)
MMADHC 36
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MMADHC 35
  • 94.03 (n)
  • 96.62 (a)
MMADHC 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
MMADHC 35
  • 92.23 (n)
  • 93.24 (a)
mouse
(Mus musculus)
Mammalia Mmadhc 35
  • 89.08 (n)
  • 93.58 (a)
Mmadhc 16
Mmadhc 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MMADHC 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MMADHC 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mmadhc 35
  • 88.29 (n)
  • 92.91 (a)
chicken
(Gallus gallus)
Aves MMADHC 35
  • 78.27 (n)
  • 83.45 (a)
MMADHC 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MMADHC 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7731 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mmadhc 35
  • 71.9 (n)
  • 73.38 (a)
Str.15175 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.380 35
zebrafish
(Danio rerio)
Actinopterygii Dr.29137 35
mmadhc 36
  • 63 (a)
OneToMany
MMADHC (2 of 2) 36
  • 52 (a)
OneToMany
zgc:92335 35
  • 58.36 (n)
  • 52.63 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG12118 36
  • 21 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y76A2B.5 35
  • 51.07 (n)
  • 39.6 (a)
Y76A2B.5 36
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6866 36
  • 43 (a)
OneToOne
Species with no ortholog for MMADHC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MMADHC Gene

ENSEMBL:
Gene Tree for MMADHC (if available)
TreeFam:
Gene Tree for MMADHC (if available)

Paralogs for MMADHC Gene

Selected SIMAP similar genes for MMADHC Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for MMADHC Gene

genes like me logo Genes that share paralogs with MMADHC: view

No data available for Paralogs for MMADHC Gene

Variants for MMADHC Gene

Sequence variations from dbSNP and Humsavar for MMADHC Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs6923 -- 149,569,848(+) TGTTG(C/T)AAATT utr-variant-3-prime
rs4299305 -- 149,584,701(-) ACTGT(C/T)GCTTT intron-variant
rs4413131 -- 149,577,445(-) atttt(C/G)atccc intron-variant
rs4459701 -- 149,571,680(-) GCCTC(A/G)GCCTC intron-variant
rs4500908 -- 149,571,002(-) TAATA(A/G)ATTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MMADHC Gene

Variant ID Type Subtype PubMed ID
nsv834409 CNV Gain 17160897
nsv875282 CNV Loss 21882294

Relevant External Links for MMADHC Gene

HapMap Linkage Disequilibrium report
MMADHC
Human Gene Mutation Database (HGMD)
MMADHC
Locus Specific Mutation Databases (LSDB)
MMADHC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMADHC Gene

Disorders for MMADHC Gene

(1) OMIM Diseases for MMADHC Gene (611935)

UniProtKB/Swiss-Prot

MMAD_HUMAN
  • Methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]: A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2). {ECO:0000269 PubMed:18385497}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MMADHC Gene

Relevant External Links for MMADHC

GeneTests
MMADHC
GeneReviews
MMADHC
Genetic Association Database (GAD)
MMADHC
Human Genome Epidemiology (HuGE) Navigator
MMADHC
genes like me logo Genes that share disorders with MMADHC: view

Publications for MMADHC Gene

  1. Gene identification for the cblD defect of vitamin B12 metabolism. (PMID: 18385497) Coelho D. … Fowler B. (N. Engl. J. Med. 2008) 2 3 4
  2. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 3 4
  3. Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. (PMID: 23270877) Mah W. … Coulton J.W. (Mol. Genet. Metab. 2013) 3 4
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for MMADHC Gene

Sources for MMADHC Gene

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