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Aliases for MREG Gene

Aliases for MREG Gene

  • Melanoregulin 2 3 3 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 for MREG Gene

  • Plays a role in the incorporation of pigments into hair. 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 , fRNAdb sequence ontologies 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
GH02I216011 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 562.7 +21.3 21338 3.2 PKNOX1 CLOCK FOXA2 ARID4B SIN3A ZNF48 ETS1 GLIS2 ZNF143 ATF7 MREG XRCC5 PECR GC02M216014 ENSG00000226276
GH02I216031 Enhancer 0.9 ENCODE dbSUPER 550.8 +1.9 1869 1.2 PKNOX1 BACH1 BATF IRF4 RELA ZNF366 NFATC1 ATF7 ETV6 FOS MREG PECR XRCC5 TMEM169 GC02M216014
GH02I216034 Enhancer 0.9 ENCODE dbSUPER 550.8 -0.1 -67 0.2 HDGF CTCF ZNF687 SAP130 RB1 TRIM22 RAD21 ZNF592 YY1 POLR2A MREG TMEM169 PECR XRCC5
GH02I215982 Enhancer 1 ENCODE 10.5 +51.2 51159 1.8 PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 IRF4 ETS1 YY1 E2F8 ATF7 XRCC5 SMARCAL1 MREG TMEM169 PECR GC02M216014 ENSG00000226276
GH02I216008 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.6 +24.7 24695 2 CTCF BATF ATF2 RUNX3 MREG XRCC5 LINC01963 PECR GC02M216014 ENSG00000226276
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MREG on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for MREG Gene

Genomic Locations for MREG Gene
chr2:215,942,590-216,034,096
(GRCh38/hg38)
Size:
91,507 bases
Orientation:
Minus strand
chr2:216,807,314-216,898,819
(GRCh37/hg19)

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:
    • Interacts with PRPH2.

    Alternative splice isoforms for MREG Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MREG Gene

Post-translational modifications for MREG Gene

No Post-translational modifications

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:

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:
Plays a role in the incorporation of pigments into hair. 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

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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. Note=Localizes to the inner segment and basal outer segment of rods in the retina. {ECO:0000250}.

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
plasma membrane 3
mitochondrion 3
extracellular 2
cytoskeleton 1
nucleus 1
cytosol 1
lysosome 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:0016020 membrane IEA --
GO:0016324 apical plasma membrane IEA --
GO:0042470 melanosome IEA --
GO:0043234 protein complex IEA --
genes like me logo Genes that share ontologies with MREG: view

Pathways & Interactions 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 IEA --
GO:0032402 melanosome transport IEA --
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

Unigene Clusters for MREG Gene

Melanoregulin:
Representative Sequences:

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, PaxDb, 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(4.3)
  • 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 34 33
  • 99.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MREG 34 33
  • 91.07 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MREG 34 33
  • 88.47 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MREG 34
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mreg 33
  • 85.05 (n)
mouse
(Mus musculus)
Mammalia Mreg 16 34 33
  • 84.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MREG 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves MREG 34 33
  • 73.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MREG 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mreg 33
  • 61.88 (n)
Str.18465 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16882 33
zebrafish
(Danio rerio)
Actinopterygii MREG 34
  • 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)

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

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 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 58
  2. 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 44 58
  3. 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 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for MREG Gene

Sources for MREG Gene

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