Aliases for MREG Gene

Aliases for MREG Gene

  • Melanoregulin 2 3 4 5
  • Dilute Suppressor Protein Homolog 3 4
  • DSU 3 4
  • Whn-Dependent Transcript 2 3
  • WDT2 3

External Ids for MREG Gene

Previous GeneCards Identifiers for MREG Gene

  • GC02M216516
  • GC02M216807
  • GC02M208664

Summaries for MREG Gene

GeneCards Summary for MREG Gene

MREG (Melanoregulin) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for MREG Gene

  • Probably functions as cargo-recognition protein that couples cytoplasmic vesicles to the transport machinery. Plays a role in hair pigmentation, a process that involves shedding of melanosome-containing vesicles from melanocytes, followed by phagocytosis of the melanosome-containing vesicles by keratinocytes. Functions on melanosomes as receptor for RILP and the complex formed by RILP and DCTN1, and thereby contributes to retrograde melanosome transport from the cell periphery to the center. Overexpression causes accumulation of late endosomes and/or lysosomes at the microtubule organising center (MTOC) at the center of the cell. Probably binds cholesterol and requires the presence of cholesterol in membranes to function in microtubule-mediated retrograde organelle transport. Binds phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate and phosphatidylinositol 3,5-bisphosphate, but not phosphatidylinositol 3,4-bisphosphate or phosphatidylinositol 4,5-bisphosphate (By similarity). Required for normal phagosome clearing and normal activation of lysosomal enzymes in lysosomes from retinal pigment epithelium cells (PubMed:19240024). Required for normal degradation of the lipofuscin component N-retinylidene-N-retinylethanolamine (A2E) in the eye. May function in membrane fusion and regulate the biogenesis of disk membranes of photoreceptor rod cells (By similarity).

Additional gene information for MREG Gene

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

Genomics for MREG Gene

GeneHancer (GH) Regulatory Elements for MREG Gene

Promoters and enhancers for MREG 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
GH02J216031 Enhancer 1.1 Ensembl ENCODE dbSUPER 750.6 +2.0 1984 1.4 JUND ETV6 RELA PRDM1 CREM ZBED1 IKZF1 BACH1 ZNF512 IKZF2 MREG PECR XRCC5 TMEM169 ENSG00000226276
GH02J216034 Enhancer 1 Ensembl ENCODE dbSUPER 750.6 -0.2 -243 0.8 CTCF RAD21 ZNF687 KAT8 ZBTB33 TRIM22 ZNF143 PKNOX1 RUNX3 HDGF MREG PECR XRCC5 TMEM169 lnc-MREG-2
GH02J216011 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.7 +20.2 20160 7.9 ZNF24 SP1 CTCF ZBTB6 LCORL RBPJ TCF7L2 NR2F6 ATF1 CREB1 XRCC5 MREG LINC01963 PECR ENSG00000226276
GH02J215979 Enhancer 1.1 Ensembl ENCODE 10.5 +52.1 52094 4.8 E2F8 GATA3 SREBF1 LCORL MLX FOXA1 RBPJ TCF7L2 ATF1 ZNF217 XRCC5 SMARCAL1 MREG TMEM169 PECR ENSG00000226276
GH02J216678 Enhancer 1.2 Ensembl ENCODE dbSUPER 6.3 -647.9 -647913 7.9 CTCF FOXA1 SMARCE1 ZNF362 MYC CC2D1A ELF1 HLF L3MBTL2 RAD21 IGFBP2 LINC01921 ENSG00000236295 MREG piR-48759-176 HSALNG0022138 IGFBP5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MREG on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MREG gene promoter:
  • AML1a
  • c-Rel
  • C/EBPalpha
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • NF-kappaB
  • RORalpha1

Genomic Locations for MREG Gene

Genomic Locations for MREG Gene
chr2:215,942,584-216,034,096
(GRCh38/hg38)
Size:
91,513 bases
Orientation:
Minus strand
chr2:216,807,314-216,898,819
(GRCh37/hg19)
Size:
91,506 bases
Orientation:
Minus strand

Genomic View for MREG Gene

Genes around MREG on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for MREG Gene

Proteins for MREG Gene

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

    Protein Symbol:
    Q8N565-MREG_HUMAN
    Recommended name:
    Melanoregulin
    Protein Accession:
    Q8N565
    Secondary Accessions:
    • Q53R89
    • Q53TC1
    • Q5XKB6
    • Q9NWC9
    • Q9P1S1

    Protein attributes for MREG Gene

    Size:
    214 amino acids
    Molecular mass:
    24927 Da
    Quaternary structure:
    • Identified in a complex with RILP and DCTN1; interacts directly with RILP, but does not interact directly with DCTN1. Interacts with PRPH2.

    Alternative splice isoforms for MREG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MREG Gene

Post-translational modifications for MREG Gene

  • Palmitoylated. Palmitoylation is required to maintain the protein at the melanosome membrane.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MREG Gene

No data available for DME Specific Peptides for MREG Gene

Domains & Families for MREG Gene

Gene Families for MREG Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MREG Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MREG Gene

GenScript: Design optimal peptide antigens:
  • Dilute suppressor protein homolog (MREG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N565

UniProtKB/Swiss-Prot:

MREG_HUMAN :
  • Belongs to the melanoregulin family.
Family:
  • Belongs to the melanoregulin family.
genes like me logo Genes that share domains with MREG: view

Function for MREG Gene

Molecular function for MREG Gene

UniProtKB/Swiss-Prot Function:
Probably functions as cargo-recognition protein that couples cytoplasmic vesicles to the transport machinery. Plays a role in hair pigmentation, a process that involves shedding of melanosome-containing vesicles from melanocytes, followed by phagocytosis of the melanosome-containing vesicles by keratinocytes. Functions on melanosomes as receptor for RILP and the complex formed by RILP and DCTN1, and thereby contributes to retrograde melanosome transport from the cell periphery to the center. Overexpression causes accumulation of late endosomes and/or lysosomes at the microtubule organising center (MTOC) at the center of the cell. Probably binds cholesterol and requires the presence of cholesterol in membranes to function in microtubule-mediated retrograde organelle transport. Binds phosphatidylinositol 3-phosphate, phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate and phosphatidylinositol 3,5-bisphosphate, but not phosphatidylinositol 3,4-bisphosphate or phosphatidylinositol 4,5-bisphosphate (By similarity). Required for normal phagosome clearing and normal activation of lysosomal enzymes in lysosomes from retinal pigment epithelium cells (PubMed:19240024). Required for normal degradation of the lipofuscin component N-retinylidene-N-retinylethanolamine (A2E) in the eye. May function in membrane fusion and regulate the biogenesis of disk membranes of photoreceptor rod cells (By similarity).

Phenotypes From GWAS Catalog for MREG Gene

Gene Ontology (GO) - Molecular Function for MREG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IEA --
GO:0035091 phosphatidylinositol binding ISS --
genes like me logo Genes that share ontologies with MREG: view
genes like me logo Genes that share phenotypes with MREG: view

Animal Model Products

CRISPR Products

Clone Products

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

Localization for MREG Gene

Subcellular locations from UniProtKB/Swiss-Prot for MREG Gene

Apical cell membrane; Peripheral membrane protein. Melanosome membrane; Lipid-anchor. Lysosome membrane; Lipid-anchor. Cytoplasmic vesicle membrane. Note=Localizes to the inner segment and basal outer segment of rods in the retina. {ECO:0000250 UniProtKB:Q6NVG5}.

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 MREG gene
Compartment Confidence
endosome 4
plasma membrane 3
lysosome 3
extracellular 2
mitochondrion 2
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MREG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005765 lysosomal membrane IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016324 apical plasma membrane IEA --
GO:0030659 cytoplasmic vesicle membrane ISS --
genes like me logo Genes that share ontologies with MREG: view

Pathways & Interactions for MREG Gene

PathCards logo

SuperPathways for MREG Gene

No Data Available

Gene Ontology (GO) - Biological Process for MREG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030318 melanocyte differentiation IBA 21873635
GO:0032400 melanosome localization ISS --
GO:0032402 melanosome transport IBA 21873635
GO:0043473 pigmentation IEA --
GO:0048066 developmental pigmentation IEA --
genes like me logo Genes that share ontologies with MREG: view

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

Drugs & Compounds for MREG Gene

No Compound Related Data Available

Transcripts for MREG Gene

mRNA/cDNA for MREG Gene

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for MREG Gene

GeneLoc Exon Structure for
MREG
ECgene alternative splicing isoforms for
MREG

Expression for MREG Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Esophagus - Mucosa (x5.6), Brain - Cerebellar Hemisphere (x5.0), and Brain - Cerebellum (x4.0).

Protein differential expression in normal tissues from HIPED for MREG Gene

This gene is overexpressed in Heart (67.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MREG Gene



Protein tissue co-expression partners for MREG Gene

NURSA nuclear receptor signaling pathways regulating expression of MREG Gene:

MREG

SOURCE GeneReport for Unigene cluster for MREG Gene:

Hs.620391

mRNA Expression by UniProt/SwissProt for MREG Gene:

Q8N565-MREG_HUMAN
Tissue specificity: Expressed in photoreceptor cells (at protein level).

Evidence on tissue expression from TISSUES for MREG Gene

  • Skin(4.4)
  • Blood(4.3)
  • Lymph node(4.2)
  • Intestine(4.1)
  • Spleen(4.1)
genes like me logo Genes that share expression patterns with MREG: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MREG Gene

Orthologs for MREG Gene

This gene was present in the common ancestor of chordates.

Orthologs for MREG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MREG 33 32
  • 99.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MREG 33 32
  • 91.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MREG 33 32
  • 88.47 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MREG 33
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mreg 32
  • 85.05 (n)
mouse
(Mus musculus)
Mammalia Mreg 17 33 32
  • 84.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MREG 33
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves MREG 33 32
  • 73.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MREG 33
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mreg 32
  • 61.88 (n)
Str.18465 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.16882 32
zebrafish
(Danio rerio)
Actinopterygii MREG 33
  • 37 (a)
OneToOne
Species where no ortholog for MREG was found in the sources mined by GeneCards:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MREG Gene

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

Paralogs for MREG Gene

Pseudogenes.org Pseudogenes for MREG Gene

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

No data available for Paralogs for MREG Gene

Variants for MREG Gene

Sequence variations from dbSNP and Humsavar for MREG Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000021477 -- 215,978,360(-) C/T intron_variant
rs1000063399 -- 215,989,545(-) T/G intron_variant
rs1000090596 -- 215,994,066(-) A/G intron_variant
rs1000125091 -- 215,951,671(-) C/A genic_downstream_transcript_variant, intron_variant
rs1000147512 -- 215,972,198(-) C/T intron_variant

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

Variant ID Type Subtype PubMed ID
dgv759e199 CNV deletion 23128226
dgv760e214 CNV loss 21293372
esv2663695 CNV deletion 23128226
esv3594284 OTHER inversion 21293372
esv3594287 CNV gain 21293372
esv3594288 CNV loss 21293372
nsv1011506 CNV gain 25217958
nsv1012309 CNV loss 25217958
nsv3158 CNV insertion 18451855
nsv478413 CNV novel sequence insertion 20440878
nsv525473 CNV loss 19592680
nsv998837 CNV gain 25217958

Variation tolerance for MREG Gene

Residual Variation Intolerance Score: 47.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MREG Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MREG Gene

Additional Disease Information for MREG

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MREG Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MREG Gene

Publications for MREG Gene

  1. Melanoregulin (MREG) modulates lysosome function in pigment epithelial cells. (PMID: 19240024) Damek-Poprawa M … Boesze-Battaglia K (The Journal of biological chemistry 2009) 2 3 4 56
  2. Melanoregulin regulates retrograde melanosome transport through interaction with the RILP-p150Glued complex in melanocytes. (PMID: 22275436) Ohbayashi N … Fukuda M (Journal of cell science 2012) 2 3 56
  3. Multistudy fine mapping of chromosome 2q identifies XRCC5 as a chronic obstructive pulmonary disease susceptibility gene. (PMID: 20463177) Hersh CP … Silverman EK (American journal of respiratory and critical care medicine 2010) 3 43 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56

Products for MREG Gene

Sources for MREG Gene