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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 and Moyamoya Disease 1. Gene Ontology (GO) annotations related to this gene include protein kinase activity. An important paralog of this gene is MMD.

Additional gene information for MMD2 Gene

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

GeneHancer (GH) Regulatory Elements for MMD2 Gene

Promoters and enhancers for MMD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I004959 Promoter 0.7 EPDnew 550.8 +0.0 6 0.1 ZBTB6 EZH2 MMD2 GC07P004914
GH07I004641 Enhancer 1.6 FANTOM5 Ensembl ENCODE 1.9 +317.0 316982 2.1 CLOCK SMAD1 FOXA2 MLX ARNT ARID4B NEUROD1 SIN3A DMAP1 YY1 TNRC18 AP5Z1 MMD2 FOXK1 GC07P004617
GH07I005452 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 1.4 -494.0 -494025 1 PKNOX1 ATF1 ARNT ZNF48 TCF12 ZNF121 ZNF766 GLIS2 GATA2 E2F8 USP42 ANKRD61 AP5Z1 TNRC18 RNF216P1 RNF216 MMD2 SLC29A4 GC07P005444 ENSG00000230733
GH07I004932 Enhancer 0.6 ENCODE 0.3 +27.1 27068 0.2 CTCF MXI1 RFX1 RFX3 CREB1 MNT BMI1 ZIC2 RFX5 GC07P004914 MMD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MMD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MMD2 gene promoter:

Genomic Locations for MMD2 Gene

Genomic Locations for MMD2 Gene
chr7:4,892,245-4,959,213
(GRCh38/hg38)
Size:
66,969 bases
Orientation:
Minus strand
chr7:4,945,620-4,998,844
(GRCh37/hg19)

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

No Post-translational modifications

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

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

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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MMD2 Gene

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:

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

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 33 34
  • 99.51 (n)
mouse
(Mus musculus)
Mammalia Mmd2 33 16 34
  • 88.98 (n)
rat
(Rattus norvegicus)
Mammalia Mmd2 33
  • 88.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 87 (a)
OneToMany
-- 34
  • 81 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MMD2 34
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MMD2 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves MMD2 33 34
  • 81.71 (n)
lizard
(Anolis carolinensis)
Reptilia MMD2 34
  • 76 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mmd2b 34
  • 73 (a)
OneToMany
mmd2a 33 34
  • 72.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4615 34
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y71G12B.23 33 34
  • 51.09 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000022450 -- 4,924,589(-) C/T intron_variant
rs1000092962 -- 4,935,297(-) A/C intron_variant
rs1000097617 -- 4,955,490(-) T/G intron_variant
rs1000212583 -- 4,901,231(-) A/G genic_downstream_transcript_variant, intron_variant
rs1000226400 -- 4,961,040(-) G/A upstream_transcript_variant

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)

Additional Variant Information 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

(2) MalaCards diseases for MMD2 Gene - From: OMIM and DISEASES

Disorder Aliases PubMed IDs
miyoshi muscular dystrophy 2
  • mmd2
moyamoya disease 1
  • mymy1
- elite association - COSMIC cancer census association via MalaCards
Search MMD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MMD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Biochemical journal 2012) 3 4 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  3. Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. (PMID: 20570966) McGovern DP … International IBD Genetics Consortium (Human molecular genetics 2010) 3 44 58
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58
  5. Pancreatic expression and mitochondrial localization of the progestin-adipoQ receptor PAQR10. (PMID: 18769639) Góñez LJ … Harrison LC (Molecular medicine (Cambridge, Mass.) 2008) 2 3 58

Products for MMD2 Gene

Sources for MMD2 Gene

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