MREG

melanoregulin

Basic information

Region (hg38): 2:215942583-216034096

Links

ENSG00000118242 ∙ NCBI:55686 ∙ OMIM:609207 ∙ HGNC:25478 ∙ Uniprot:Q8N565 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MREG gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MREG gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in MREG

This is a list of pathogenic ClinVar variants found in the MREG region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-215944945-C-T		not specified	Likely benign (May 30, 2023)
2-215944962-G-C		not specified	Uncertain significance (Jan 06, 2023)
2-215944994-G-A		not specified	Uncertain significance (Feb 10, 2022)
2-215945588-T-C		not specified	Uncertain significance (Mar 24, 2023)
2-215945662-C-T		not specified	Uncertain significance (May 08, 2023)
2-215945665-G-T		not specified	Uncertain significance (Jul 25, 2023)
2-215945710-A-G		not specified	Uncertain significance (Jun 27, 2022)
2-215947055-C-G		not specified	Uncertain significance (Jun 30, 2022)
2-215947076-C-T		not specified	Uncertain significance (Jan 23, 2024)
2-215996316-T-C		not specified	Uncertain significance (Mar 04, 2024)
2-215996332-G-A		not specified	Uncertain significance (Jun 22, 2021)
2-215996349-T-C		not specified	Uncertain significance (Aug 02, 2023)
2-215996352-A-G		not specified	Uncertain significance (Feb 14, 2024)
2-215996377-T-C		not specified	Uncertain significance (Sep 16, 2021)
2-216013297-A-G		not specified	Uncertain significance (Jan 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MREG	protein_coding	protein_coding	ENST00000263268	5	89607

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.72e-7	0.246	124611	1	25	124637	0.000104

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.701	94	115	0.816	0.00000600	1390
Missense in Polyphen		44	46.51	0.94604		560
Synonymous	-0.512	47	42.7	1.10	0.00000216	395
Loss of Function	0.307	11	12.2	0.905	7.12e-7	138

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000283	0.000283
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000558	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000891	0.0000885
Middle Eastern	0.0000558	0.0000556
South Asian	0.000328	0.000294
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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). {ECO:0000250}.

Recessive Scores

• pRec: 0.968

Intolerance Scores

• loftool: 0.613
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• pHI: 0.135
• hipred: N
• hipred_score: 0.253
• ghis: 0.485

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0183

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mreg
• Phenotype: vision/eye phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal phenotype; pigmentation phenotype; muscle phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: melanocyte differentiation;melanosome localization;melanosome transport;minus-end-directed organelle transport along microtubule;phagosome maturation
• Cellular component: apical plasma membrane;cytoplasmic vesicle membrane;intrinsic component of organelle membrane;late endosome membrane;protein-containing complex;melanosome membrane;melanosome
• Molecular function: phosphatidylinositol binding