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MREG melanoregulin [ Homo sapiens (human) ]

Gene ID: 55686, updated on 22-Sep-2022

Summary

Official Symbol
MREGprovided by HGNC
Official Full Name
melanoregulinprovided by HGNC
Primary source
HGNC:HGNC:25478
See related
Ensembl:ENSG00000118242 MIM:609207; AllianceGenome:HGNC:25478
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
Summary
Predicted to enable phosphatidylinositol binding activity. Predicted to be involved in melanocyte differentiation; melanosome transport; and phagosome maturation. Predicted to act upstream of or within developmental pigmentation. Predicted to be located in late endosome membrane and melanosome membrane. Predicted to be intrinsic component of organelle membrane. Predicted to be part of protein-containing complex. Predicted to be active in melanosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in esophagus (RPKM 7.4), skin (RPKM 5.3) and 22 other tissues See more
Orthologs
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Genomic context

See MREG in Genome Data Viewer
Location:
2q35
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (215939308..216034096, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (216428014..216519531, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (216807307..216898819, 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-like 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?

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
enables phosphatidylinositol binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in melanocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in melanosome localization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in melanosome transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in minus-end-directed organelle transport along microtubule IEA
Inferred from Electronic Annotation
more info
 
involved_in phagosome maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in late endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in melanosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in melanosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in organelle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
part_of 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)

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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
    Conserved Domains (1) summary
    pfam15812
    Location:46241
    MREG; Melanoregulin
  2. NM_001372189.1NP_001359118.1  melanoregulin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC010686, AC093382
    Conserved Domains (1) summary
    pfam15812
    Location:2137
    MREG; Melanoregulin
  3. NM_001372190.1NP_001359119.1  melanoregulin isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC010686, AC093382
    Related
    ENSP00000411076.1, ENST00000439791.5
    Conserved Domains (1) summary
    pfam15812
    Location:2137
    MREG; Melanoregulin
  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, Q9P1S1
    Related
    ENSP00000263268.6, ENST00000263268.11
    Conserved Domains (1) summary
    pfam15812
    Location:46191
    MREG; Melanoregulin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    215939308..216034096 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001738843.2 RNA Sequence

  2. XR_007078319.1 RNA Sequence

  3. XR_001738842.2 RNA Sequence

  4. XR_922965.2 RNA Sequence

  5. XR_001738844.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    216428014..216519531 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)