MREG melanoregulin [Homo sapiens (human)] - Gene

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 part of protein-containing complex. Predicted to be active in melanosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in esophagus (RPKM 7.4), skin (RPKM 5.3) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q35

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (215939308..216034096, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (216424511..216519531, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (216807307..216898819, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Taken together, MREG regulates thyroid cancer cell invasion and proliferation through PI3K/Akt-mTOR signaling pathway. MREG may serve as a promising therapeutic strategy for thyroid cancer.
Title: MREG suppresses thyroid cancer cell invasion and proliferation by inhibiting Akt-mTOR signaling.
MREG-dependent processing links both autophagic and phagocytic processes in LC3-associated phagocytosis. MREG participates in coordinating the association of phagosomes with LC3 for content degradation with the MREG loss leading to phagosome accumulation.
Title: The Contribution of Melanoregulin to Microtubule-Associated Protein 1 Light Chain 3 (LC3) Associated Phagocytosis in Retinal Pigment Epithelium.
Observational study of gene-disease association. (HuGE Navigator)
Title: Multistudy fine mapping of chromosome 2q identifies XRCC5 as a chronic obstructive pulmonary disease susceptibility gene.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies loci affecting blood copper, selenium and zinc. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S137 (e-PCR), detects polymorphism
- UniSTS:44836

RH47987 (e-PCR)
- UniSTS:61743

RH16678 (e-PCR)
- UniSTS:16689

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

RH16400 (e-PCR)
- UniSTS:16498

D2S137 (e-PCR), detects polymorphism
- UniSTS:70787

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-33908 (e-PCR)
- UniSTS:12448

GDB:631802 (e-PCR)
- UniSTS:158429

WI-17547 (e-PCR)
- UniSTS:42732

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
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
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
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

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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.