GeneBe

MREG

melanoregulin

Basic information

Region (hg38): 2:215942584-216034096

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.

  • not_specified (31 variants)
  • MREG-related_condition (1 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. These statistics are base on transcript: NM_000018000.3. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
0
missense
30
clinvar
2
clinvar
 32
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 30 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MREGprotein_codingprotein_codingENST00000263268 589607
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.72e-70.2461246111251246370.000104
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.701941150.8160.000006001390
Missense in Polyphen4446.510.94604560
Synonymous-0.5124742.71.100.00000216395
Loss of Function0.3071112.20.9057.12e-7138

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002830.000283
Ashkenazi Jewish0.000.00
East Asian0.00005580.0000556
Finnish0.000.00
European (Non-Finnish)0.00008910.0000885
Middle Eastern0.00005580.0000556
South Asian0.0003280.000294
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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