This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophage... See more...

Aliases for MMD Gene

Aliases for MMD Gene

  • Monocyte To Macrophage Differentiation Associated 2 3 5
  • PAQR11 2 3 4
  • Progestin And AdipoQ Receptor Family Member 11 3 4
  • Progestin And AdipoQ Receptor Family Member XI 3 4
  • Monocyte To Macrophage Differentiation Factor 3 4
  • MMA 2 3
  • Monocyte To Macrophage Differentiation-Associated 2
  • Monocyte To Macrophage Differentiation Protein 3
  • Macrophage Maturation-Associated 3
  • MMD1 3
  • MMD 5

External Ids for MMD Gene

Previous GeneCards Identifiers for MMD Gene

  • GC17M053200
  • GC17M055951
  • GC17M053812
  • GC17M053944
  • GC17M050824
  • GC17M053469
  • GC17M048830

Summaries for MMD Gene

Entrez Gene Summary for MMD Gene

  • This protein is expressed by in vitro differentiated macrophages but not freshly isolated monocytes. Although sequence analysis identifies seven potential transmembrane domains, this protein has little homology to G-protein receptors and it has not been positively identified as a receptor. A suggested alternative function is that of an ion channel protein in maturing macrophages. [provided by RefSeq, Jul 2008]

GeneCards Summary for MMD Gene

MMD (Monocyte To Macrophage Differentiation Associated) is a Protein Coding gene. Diseases associated with MMD include Vitamin Metabolic Disorder and Sphenocavernous Meningioma. Gene Ontology (GO) annotations related to this gene include protein kinase activity. An important paralog of this gene is MMD2.

UniProtKB/Swiss-Prot Summary for MMD Gene

  • Involved in the dynamics of lysosomal membranes associated with microglial activation following brain lesion.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MMD Gene

Genomics for MMD Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MMD 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
GH17J055417 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 606.3 +1.2 1179 5.9 HNRNPL GATAD2A PRDM10 IKZF1 NFKBIZ POLR2A LARP7 MTA2 RELA ZIC2 MMD lnc-SMIM36-6 piR-48369-071 HLF
GH17J055750 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 9.9 -329.5 -329477 2.4 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 IKZF1 CTCF ZNF692 RCOR2 ZNF7 PCTP MMD piR-43017 ANKFN1
GH17J055442 Enhancer 1.1 ENCODE dbSUPER 17.5 -22.2 -22227 3.8 GATAD2A ATF7 TFE3 RCOR2 BACH1 JUND RELA RBFOX2 RXRB IRF2 lnc-HLF-4 MMD SMIM36
GH17J055448 Enhancer 1.4 Ensembl ENCODE dbSUPER 12.1 -30.9 -30880 8.8 CEBPG GATAD2A ZNF629 REST TFE3 LEF1 IKZF1 NFKBIZ RCOR2 JUND MMD STXBP4 COX11 LOC101927367 lnc-MMD-1 lnc-HLF-4 SMIM36
GH17J055447 Enhancer 1 ENCODE dbSUPER 12.1 -25.1 -25091 0.2 GATAD2A REST TFE3 NFKBIZ RCOR2 RBFOX2 RXRB IRF2 SP1 CEBPA lnc-HLF-4 MMD LOC101927367 SMIM36
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MMD on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MMD

Top Transcription factor binding sites by QIAGEN in the MMD gene promoter:
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • NF-E2
  • NF-E2 p45
  • Nkx6-1
  • Pbx1a
  • STAT1
  • TBP

Genomic Locations for MMD Gene

Genomic Locations for MMD Gene
chr17:55,392,617-55,421,924
(GRCh38/hg38)
Size:
29,308 bases
Orientation:
Minus strand
chr17:53,469,974-53,499,353
(GRCh37/hg19)
Size:
29,380 bases
Orientation:
Minus strand

Genomic View for MMD Gene

Genes around MMD on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MMD Gene

Proteins for MMD Gene

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

    Protein Symbol:
    Q15546-PAQRB_HUMAN
    Recommended name:
    Monocyte to macrophage differentiation factor
    Protein Accession:
    Q15546
    Secondary Accessions:
    • B2R6X9
    • D3DTY6
    • Q8TAN7

    Protein attributes for MMD Gene

    Size:
    238 amino acids
    Molecular mass:
    27667 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MMD Gene

Post-translational modifications for MMD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MMD Gene

No data available for DME Specific Peptides for MMD Gene

Domains & Families for MMD Gene

Gene Families for MMD Gene

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

Protein Domains for MMD Gene

InterPro:
Blocks:
  • Hly-III related proteins
ProtoNet:

Suggested Antigen Peptide Sequences for MMD Gene

GenScript: Design optimal peptide antigens:
  • Progestin and adipoQ receptor family member XI (PAQRB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15546

UniProtKB/Swiss-Prot:

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

Function for MMD Gene

Molecular function for MMD Gene

UniProtKB/Swiss-Prot Function:
Involved in the dynamics of lysosomal membranes associated with microglial activation following brain lesion.

Phenotypes From GWAS Catalog for MMD Gene

Gene Ontology (GO) - Molecular Function for MMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IDA 21968647
GO:0038023 signaling receptor activity TAS 7503749
genes like me logo Genes that share ontologies with MMD: view
genes like me logo Genes that share phenotypes with MMD: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMD

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MMD Gene

Localization for MMD Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMD Gene

Late endosome membrane. Multi-pass membrane protein. Lysosome 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 MMD gene
Compartment Confidence
plasma membrane 5
endosome 4
lysosome 4
golgi apparatus 4
mitochondrion 3
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IDA 21968647
GO:0005887 integral component of plasma membrane TAS 7503749
genes like me logo Genes that share ontologies with MMD: view

Pathways & Interactions for MMD Gene

PathCards logo

SuperPathways for MMD Gene

No Data Available

Gene Ontology (GO) - Biological Process for MMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0019835 cytolysis 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
genes like me logo Genes that share ontologies with MMD: view

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

Drugs & Compounds for MMD Gene

(4) Drugs for MMD Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Coal tar Approved Pharma 321
Anesthetics Pharma 13545
Calamus Pharma 832
Pharmaceutical Solutions Pharma 11855
genes like me logo Genes that share compounds with MMD: view

Transcripts for MMD Gene

mRNA/cDNA for MMD Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MMD

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

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

Relevant External Links for MMD Gene

GeneLoc Exon Structure for
MMD

Expression for MMD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MMD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.3), Brain - Amygdala (x4.7), Brain - Putamen (basal ganglia) (x4.4), and Brain - Hippocampus (x4.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MMD

SOURCE GeneReport for Unigene cluster for MMD Gene:

Hs.463483

mRNA Expression by UniProt/SwissProt for MMD Gene:

Q15546-PAQRB_HUMAN
Tissue specificity: Exhibits relatively ubiquitous expression with preferential expression in mature (in vitro differentiated) macrophages.

Evidence on tissue expression from TISSUES for MMD Gene

  • Nervous system(4.9)
  • Blood(4.7)
  • Spleen(4.5)
  • Urine(2.9)
  • Skin(2.9)
  • Liver(2.8)
  • Kidney(2.7)
  • Intestine(2.7)
  • Muscle(2.7)
  • Heart(2.7)
  • Bone(2.5)
  • Lung(2.5)
  • Bone marrow(2.4)
  • Eye(2.3)
  • Lymph node(2.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with MMD: 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 MMD Gene

Orthologs for MMD Gene

This gene was present in the common ancestor of animals.

Orthologs for MMD Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MMD 30 31
  • 100 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MMD 31
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia MMD 30 31
  • 94.12 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MMD 30 31
  • 93.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mmd 30 17 31
  • 91.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mmd 30
  • 89.5 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MMD 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MMD 30 31
  • 83.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MMD 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mmd 30
  • 79.01 (n)
Zebrafish
(Danio rerio)
Actinopterygii mmd 30 31
  • 73.59 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11012 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006136 30
  • 49.49 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4615 30 31 32
  • 48.26 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y71G12B.23 31 32
  • 34 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for MMD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 Vase (Ciona intestinalis)
  • 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 MMD Gene

ENSEMBL:
Gene Tree for MMD (if available)
TreeFam:
Gene Tree for MMD (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MMD: view image

Paralogs for MMD Gene

Paralogs for MMD Gene

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

  • PAQRB_HUMAN
  • I3L1Y1_HUMAN
genes like me logo Genes that share paralogs with MMD: view

Variants for MMD Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MMD Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
778717 Benign: not provided 55,394,523(-) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for MMD Gene

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

Variant ID Type Subtype PubMed ID
esv2716056 CNV deletion 23290073
esv3410565 CNV insertion 20981092
esv3640841 CNV loss 21293372
nsv2100 CNV deletion 18451855

Variation tolerance for MMD Gene

Residual Variation Intolerance Score: 24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.16; 3.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MMD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMD

SNP Genotyping and Copy Number Assay Products

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

Disorders for MMD Gene

MalaCards: The human disease database

(39) MalaCards diseases for MMD Gene - From: DISEASES

Disorder Aliases PubMed IDs
vitamin metabolic disorder
sphenocavernous meningioma
occupational dermatitis
  • occupational allergic contact dermatitis
organic acidemia
  • organic acid metabolism disorder
isovaleric acidemia
  • iva
- elite association - COSMIC cancer census association via MalaCards
Search MMD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MMD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MMD: view

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

Publications for MMD Gene

  1. PAQR proteins: a novel membrane receptor family defined by an ancient 7-transmembrane pass motif. (PMID: 16044242) Tang YT … Funk WD (Journal of molecular evolution 2005) 2 3 4
  2. Molecular cloning of a novel macrophage maturation-associated transcript encoding a protein with several potential transmembrane domains. (PMID: 7503749) Rehli M … Andreesen R (Biochemical and biophysical research communications 1995) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Effect of aspirin response signature gene expression on preterm birth and preeclampsia among women with lupus: a pilot study. (PMID: 31684818) Eudy AM … Clowse MEB (Lupus 2019) 3

Products for MMD Gene

  • Signalway ELISA kits for MMD

Sources for MMD Gene