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Aliases for MMD2 Gene

Aliases for MMD2 Gene

  • 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-Associated 2 2
  • 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 CIViC summary , 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

Enhancers for MMD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G004641 1.8 FANTOM5 Ensembl ENCODE 1.9 +317.0 316983 2.1 HDGF MLX ARNT CREB3L1 AGO1 ARID4B SIN3A DMAP1 YBX1 YY1 AP5Z1 ENSG00000188365 RNF216P1 TNRC18 MMD2 FOXK1 GC07P004617
GH07G005452 1.8 FANTOM5 Ensembl ENCODE dbSUPER 1.4 -494.0 -494025 1.0 PKNOX1 ATF1 CREB3L1 ZNF48 TCF12 ZNF121 ZNF766 GLIS2 GATA2 ZNF263 MMD2 SLC29A4 GC07P005444 ENSG00000230733
GH07G004932 0.8 ENCODE 0.3 +27.1 27069 0.2 BCOR HDAC1 CTCF LEF1 MXI1 BMI1 ZIC2 RFX5 FOSL1 EGR1 GC07P004914 MMD2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MMD2 on UCSC Golden Path with GeneCards custom track

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

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

Gene Ontology (GO) - Molecular Function for MMD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IDA 21968647
genes like me logo Genes that share ontologies with MMD2: view

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

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MMD2 gene
Compartment Confidence
golgi apparatus 4
plasma membrane 3
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MMD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0048471 perinuclear region of cytoplasm IDA 22500632
genes like me logo Genes that share ontologies with MMD2: view

Pathways & Interactions 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:0006468 protein phosphorylation IEA --
GO:0032880 regulation of protein localization IDA 21968647
GO:0045666 positive regulation of neuron differentiation IDA 21968647
GO:0045860 positive regulation of protein kinase activity 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

NURSA nuclear receptor signaling pathways regulating expression of MMD2 Gene:

MMD2

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.

Evidence on tissue expression from TISSUES for MMD2 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with MMD2: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.51 (n)
mouse
(Mus musculus)
Mammalia Mmd2 34 16 35
  • 88.98 (n)
rat
(Rattus norvegicus)
Mammalia Mmd2 34
  • 88.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 87 (a)
OneToMany
-- 35
  • 81 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MMD2 35
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MMD2 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves MMD2 34 35
  • 81.71 (n)
lizard
(Anolis carolinensis)
Reptilia MMD2 35
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mmd2b 35
  • 73 (a)
OneToMany
mmd2a 34 35
  • 72.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4615 35
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71G12B.23 34 35
  • 51.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToMany
Species where no ortholog for MMD2 was found in the sources mined by GeneCards:
  • 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
rs1000022450 -- 4,924,589(+) TGGGC(C/T)GTGAA intron-variant
rs1000092962 -- 4,935,297(+) CAGTG(A/C)GCTAT intron-variant
rs1000097617 -- 4,955,490(+) ACATG(G/T)GGTTA intron-variant
rs1000212583 -- 4,901,231(+) AGGTC(A/G)GGAGT intron-variant
rs1000226400 -- 4,961,040(+) TTTGA(A/G)TGCAG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv1249e214 CNV loss 21293372
dgv3481n106 CNV deletion 24896259
dgv6238n100 CNV loss 25217958
esv2659019 CNV deletion 23128226
esv2667895 CNV deletion 23128226
esv2763613 CNV loss 21179565
esv3571583 CNV loss 25503493
esv3611955 CNV loss 21293372
esv3611956 CNV loss 21293372
esv3611957 CNV loss 21293372
esv3611958 CNV loss 21293372
esv3611959 CNV loss 21293372
esv3611960 CNV gain 21293372
esv3891027 CNV loss 25118596
nsv1019120 CNV loss 25217958
nsv1075005 CNV deletion 25765185
nsv1161486 CNV duplication 26073780
nsv528748 CNV loss 19592680
nsv605979 CNV loss 21841781
nsv605980 CNV loss 21841781
nsv8033 CNV loss 18304495
nsv950799 CNV deletion 24416366

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. (PMID: 20570966) McGovern D.P. … Rotter J.I. (Hum. Mol. Genet. 2010) 3 46 64
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  5. 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 64

Products for MMD2 Gene

Sources for MMD2 Gene

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