Human Gene MREG (uc002vfo.3)
  Description: Homo sapiens melanoregulin (MREG), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr2:216,807,314-216,878,346 Size: 71,033 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr2:216,809,586-216,878,050 Size: 68,465 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:216,807,314-216,878,346)mRNA (may differ from genome)Protein (214 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MREG_HUMAN
DESCRIPTION: RecName: Full=Melanoregulin; AltName: Full=Dilute suppressor protein homolog;
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).
SUBUNIT: Interacts with PRPH2 (By similarity).
SUBCELLULAR LOCATION: Apical cell membrane; Peripheral membrane protein (By similarity). Note=Localizes to the inner segment and basal outer segment of rods in the retina (By similarity).
TISSUE SPECIFICITY: Expressed in photoreceptor cells (at protein level).
SIMILARITY: Belongs to the melanoregulin family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MREG
CDC HuGE Published Literature: MREG
Positive Disease Associations: Albuminuria , Alcoholism
Related Studies:
  1. Albuminuria
    Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903292]
    Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
  2. Alcoholism
    Jens Treutlein et al. Archives of general psychiatry 2009, Genome-wide association study of alcohol dependence., Archives of general psychiatry. [PubMed 19581569]
    This is the first GWAS and follow-up study to identify a genome-wide significant association in alcohol dependence. Further independent studies are required to confirm these findings.
  3. Alcoholism
    Josef Frank et al. Addiction biology 2012, Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster., Addiction biology. [PubMed 22004471]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.47 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 119.37 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -146.90296-0.496 Picture PostScript Text
3' UTR -956.232272-0.421 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF15812 - Melanoregulin

ModBase Predicted Comparative 3D Structure on Q8N565
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Biological Process:
GO:0030318 melanocyte differentiation
GO:0032402 melanosome transport
GO:0043473 pigmentation
GO:0048066 developmental pigmentation

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0032991 macromolecular complex
GO:0042470 melanosome


-  Descriptions from all associated GenBank mRNAs
  AK296208 - Homo sapiens cDNA FLJ55082 complete cds, highly similar to Peroxisomal trans-2-enoyl-CoA reductase (EC 1.3.1.38).
BC082990 - Homo sapiens melanoregulin, mRNA (cDNA clone MGC:90296 IMAGE:6159624), complete cds.
BC032747 - Homo sapiens melanoregulin, mRNA (cDNA clone MGC:45077 IMAGE:5573149), complete cds.
AK000978 - Homo sapiens cDNA FLJ10116 fis, clone HEMBA1002794.
JD297204 - Sequence 278228 from Patent EP1572962.
JD196278 - Sequence 177302 from Patent EP1572962.
JD284635 - Sequence 265659 from Patent EP1572962.
JD162111 - Sequence 143135 from Patent EP1572962.
JD039109 - Sequence 20133 from Patent EP1572962.
JD553883 - Sequence 534907 from Patent EP1572962.
JD099019 - Sequence 80043 from Patent EP1572962.
JD341411 - Sequence 322435 from Patent EP1572962.
JD346540 - Sequence 327564 from Patent EP1572962.
JD506016 - Sequence 487040 from Patent EP1572962.
JD346541 - Sequence 327565 from Patent EP1572962.
JD312048 - Sequence 293072 from Patent EP1572962.
JD346542 - Sequence 327566 from Patent EP1572962.
JD312049 - Sequence 293073 from Patent EP1572962.
JD224632 - Sequence 205656 from Patent EP1572962.
JD285540 - Sequence 266564 from Patent EP1572962.
JD070768 - Sequence 51792 from Patent EP1572962.
JD499756 - Sequence 480780 from Patent EP1572962.
JD135722 - Sequence 116746 from Patent EP1572962.
JD135721 - Sequence 116745 from Patent EP1572962.
JD117499 - Sequence 98523 from Patent EP1572962.
JD554160 - Sequence 535184 from Patent EP1572962.
JD457006 - Sequence 438030 from Patent EP1572962.
AF068290 - Homo sapiens HDCGA21P mRNA, partial cds.
HQ448138 - Synthetic construct Homo sapiens clone IMAGE:100071523; CCSB010074_02 melanoregulin (MREG) gene, encodes complete protein.
KJ894236 - Synthetic construct Homo sapiens clone ccsbBroadEn_03630 MREG gene, encodes complete protein.
JD452091 - Sequence 433115 from Patent EP1572962.
JD407024 - Sequence 388048 from Patent EP1572962.
JD301883 - Sequence 282907 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: DSU, HDCGA21P, MREG_HUMAN, NM_018000, NP_060470, Q53R89, Q53TC1, Q5XKB6, Q8N565, Q9NWC9, Q9P1S1
UCSC ID: uc002vfo.3
RefSeq Accession: NM_018000
Protein: Q8N565 (aka MREG_HUMAN)
CCDS: CCDS46513.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_018000.2
exon count: 5CDS single in 3' UTR: no RNA size: 3213
ORF size: 645CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1332.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.