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Aliases for MMD2 Gene

Aliases for MMD2 Gene

  • Monocyte To Macrophage Differentiation Associated 2 2 3
  • Monocyte To Macrophage Differentiation-Associated 2 2 3 5
  • Progestin And AdipoQ Receptor Family Member 10 3 4
  • Progestin And AdipoQ Receptor Family Member X 3 4
  • PAQR10 3 4
  • Monocyte-To-Macrophage Differentiation-Associated Protein 2 3
  • Monocyte-To-Macrophage Differentiation Factor 2 3

External Ids for MMD2 Gene

Previous GeneCards Identifiers for MMD2 Gene

  • GC07M004691
  • GC07M004719
  • GC07M004912
  • GC07M004861
  • GC07M004945

Summaries for MMD2 Gene

Entrez Gene Summary for MMD2 Gene

  • This gene encodes a member of the PAQR (progestin and adipoQ receptor) family. Members of this family are evolutionarily conserved with significant sequence identity to bacterial hemolysin-like proteins and are defined by a set of seven transmembrane domains. The protein encoded by this gene localizes to the Golgi apparatus to modulate Ras signaling. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]

GeneCards Summary for MMD2 Gene

MMD2 (Monocyte To Macrophage Differentiation Associated 2) is a Protein Coding gene. Diseases associated with MMD2 include miyoshi muscular dystrophy 2. GO annotations related to this gene include protein kinase activity. An important paralog of this gene is MMD.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMD2 Gene

Genomics for MMD2 Gene

Regulatory Elements for MMD2 Gene

Genomic Location for MMD2 Gene

Chromosome:
7
Start:
4,892,245 bp from pter
End:
4,959,213 bp from pter
Size:
66,969 bases
Orientation:
Minus strand

Genomic View for MMD2 Gene

Genes around MMD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMD2 Gene

Proteins for MMD2 Gene

  • Protein details for MMD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IY49-PAQRA_HUMAN
    Recommended name:
    Monocyte to macrophage differentiation factor 2
    Protein Accession:
    Q8IY49
    Secondary Accessions:
    • B5MBW4
    • Q6NVU5
    • Q6TCH0

    Protein attributes for MMD2 Gene

    Size:
    270 amino acids
    Molecular mass:
    31264 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MMD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MMD2 Gene

Proteomics data for MMD2 Gene at MOPED

Post-translational modifications for MMD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MMD2 Gene

No data available for DME Specific Peptides for MMD2 Gene

Domains & Families for MMD2 Gene

Gene Families for MMD2 Gene

Protein Domains for MMD2 Gene

Suggested Antigen Peptide Sequences for MMD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IY49

UniProtKB/Swiss-Prot:

PAQRA_HUMAN :
  • Belongs to the ADIPOR family.
Family:
  • Belongs to the ADIPOR family.
genes like me logo Genes that share domains with MMD2: view

Function for MMD2 Gene

Phenotypes for MMD2 Gene

genes like me logo Genes that share phenotypes with MMD2: view

Animal Models for MMD2 Gene

MGI Knock Outs for MMD2:
  • Mmd2 tm1a(KOMP)Wtsi

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for MMD2 Gene

Localization for MMD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMD2 Gene

Golgi apparatus membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MMD2 Gene COMPARTMENTS Subcellular localization image for MMD2 gene
Compartment Confidence
golgi apparatus 4
plasma membrane 3
endoplasmic reticulum 1
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for MMD2 Gene

Pathways & Interactions for MMD2 Gene

SuperPathways for MMD2 Gene

No Data Available

Interacting Proteins for MMD2 Gene

Gene Ontology (GO) - Biological Process for MMD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045666 positive regulation of neuron differentiation IDA 21968647
GO:0046579 positive regulation of Ras protein signal transduction IDA 21968647
genes like me logo Genes that share ontologies with MMD2: view

No data available for Pathways by source and SIGNOR curated interactions for MMD2 Gene

Drugs & Compounds for MMD2 Gene

No Compound Related Data Available

Transcripts for MMD2 Gene

Unigene Clusters for MMD2 Gene

Monocyte to macrophage differentiation-associated 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MMD2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b
SP1: -
SP2: -
SP3: - -

Relevant External Links for MMD2 Gene

GeneLoc Exon Structure for
MMD2
ECgene alternative splicing isoforms for
MMD2

Expression for MMD2 Gene

mRNA expression in normal human tissues for MMD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MMD2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x7.1), Brain - Nucleus accumbens (basal ganglia) (x6.3), Brain - Caudate (basal ganglia) (x5.9), Brain - Putamen (basal ganglia) (x5.3), and Brain - Amygdala (x5.1).

SOURCE GeneReport for Unigene cluster for MMD2 Gene Hs.558694

mRNA Expression by UniProt/SwissProt for MMD2 Gene

Q8IY49-PAQRA_HUMAN
Tissue specificity: Shows restricted expression with highest levels in brain and testis.
genes like me logo Genes that share expression patterns with MMD2: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for MMD2 Gene

Orthologs for MMD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MMD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MMD2 35
  • 99.51 (n)
  • 100 (a)
MMD2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MMD2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mmd2 16
Mmd2 35
  • 88.98 (n)
  • 96.69 (a)
Mmd2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MMD2 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mmd2 35
  • 88.71 (n)
  • 96.28 (a)
chicken
(Gallus gallus)
Aves MMD2 35
  • 81.71 (n)
  • 83.74 (a)
MMD2 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MMD2 36
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mmd2a 35
  • 72.78 (n)
  • 74.58 (a)
mmd2a 36
  • 53 (a)
OneToMany
mmd2b 36
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG4615 36
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71G12B.23 36
  • 36 (a)
OneToMany
Y71G12B.23 35
  • 51.09 (n)
  • 40.61 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for MMD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • dog (Canis familiaris)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MMD2 Gene

ENSEMBL:
Gene Tree for MMD2 (if available)
TreeFam:
Gene Tree for MMD2 (if available)

Paralogs for MMD2 Gene

Paralogs for MMD2 Gene

(1) SIMAP similar genes for MMD2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MMD2: view

Variants for MMD2 Gene

Sequence variations from dbSNP and Humsavar for MMD2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs300526 -- 4,892,961(+) ctcac(A/G)cctct intron-variant
rs300535 -- 4,901,553(-) ctctc(C/T)gtgcc intron-variant
rs186186 -- 4,904,920(-) cccct(C/G)tgctc intron-variant
rs441276 -- 4,899,386(+) AAATG(C/T)ATTTT intron-variant
rs190967 -- 4,895,357(+) aggcc(C/T)gagcc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MMD2 Gene

Variant ID Type Subtype PubMed ID
nsv8033 CNV Loss 18304495
nsv528748 CNV Loss 19592680
nsv887389 CNV Loss 21882294
esv2659019 CNV Deletion 23128226

Variation tolerance for MMD2 Gene

Residual Variation Intolerance Score: 30% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MMD2 Gene

HapMap Linkage Disequilibrium report
MMD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMD2 Gene

Disorders for MMD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MMD2 Gene - From: OMIM

Disorder Aliases PubMed IDs
miyoshi muscular dystrophy 2
- elite association - COSMIC cancer census association via MalaCards
Search MMD2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MMD2

Genetic Association Database (GAD)
MMD2
Human Genome Epidemiology (HuGE) Navigator
MMD2
genes like me logo Genes that share disorders with MMD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MMD2 Gene

Publications for MMD2 Gene

  1. Identification of the topology and functional domains of PAQR10. (PMID: 22339580) Jin T. … Chen Y. (Biochem. J. 2012) 3 4 67
  2. Pancreatic expression and mitochondrial localization of the progestin-adipoQ receptor PAQR10. (PMID: 18769639) GA^A+ez L.J. … Harrison L.C. (Mol. Med. 2008) 2 3
  3. PAQR10 and PAQR11 mediate Ras signaling in the Golgi apparatus. (PMID: 21968647) Jin T. … Chen Y. (Cell Res. 2012) 3
  4. Sox9 and NFIA coordinate a transcriptional regulatory cascade during the initiation of gliogenesis. (PMID: 22500632) Kang P. … Deneen B. (Neuron 2012) 3
  5. Mesenchymal stem cell derived hematopoietic cells are permissive to HIV-1 infection. (PMID: 21226936) Nazari-Shafti T.Z. … Izadpanah R. (Retrovirology 2011) 3

Products for MMD2 Gene

Sources for MMD2 Gene

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