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MREG melanoregulin [ Homo sapiens (human) ]

Gene ID: 55686, updated on 3-May-2020

Summary

Official Symbol
MREGprovided by HGNC
Official Full Name
melanoregulinprovided by HGNC
Primary source
HGNC:HGNC:25478
See related
Ensembl:ENSG00000118242 MIM:609207
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DSU; WDT2
Expression
Broad expression in esophagus (RPKM 7.4), skin (RPKM 5.3) and 22 other tissues See more
Orthologs

Genomic context

See MREG in Genome Data Viewer
Location:
2q35
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (215939097..216034096, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (216807314..216878346, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 607 Neighboring gene cytochrome c oxidase subunit NDUFA4 pseudogene Neighboring gene uncharacterized LOC105373870 Neighboring gene peroxisomal trans-2-enoyl-CoA reductase Neighboring gene Sharpr-MPRA regulatory regions 7837 and 8351 Neighboring gene transmembrane protein 169 Neighboring gene X-ray repair cross complementing 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci affecting blood copper, selenium and zinc.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10116, MGC90296, AC093382.1

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
melanocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome localization ISS
Inferred from Sequence or Structural Similarity
more info
 
melanosome transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
minus-end-directed organelle transport along microtubule IEA
Inferred from Electronic Annotation
more info
 
phagosome maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
intrinsic component of organelle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
late endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
melanosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
melanosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
melanoregulin
Names
dilute suppressor protein homolog
whn-dependent transcript 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001372188.1NP_001359117.1  melanoregulin isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC010686, AC093382
  2. NM_001372189.1NP_001359118.1  melanoregulin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC010686, AC093382
  3. NM_001372190.1NP_001359119.1  melanoregulin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC010686, AC093382
    Related
    ENSP00000411076.1, ENST00000439791.5
  4. NM_018000.3NP_060470.2  melanoregulin isoform 2

    See identical proteins and their annotated locations for NP_060470.2

    Status: VALIDATED

    Source sequence(s)
    AC093382, CA843296, CX781801
    Consensus CDS
    CCDS46513.1
    UniProtKB/Swiss-Prot
    Q8N565
    Related
    ENSP00000263268.6, ENST00000263268.11
    Conserved Domains (1) summary
    pfam15812
    Location:45191
    MREG; Melanoregulin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    215939097..216034096 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004475.1XP_016859964.1  melanoregulin isoform X2

RNA

  1. XR_001738843.1 RNA Sequence

  2. XR_001738842.1 RNA Sequence

  3. XR_001738844.1 RNA Sequence

  4. XR_922965.1 RNA Sequence

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