METRNL

meteorin like, glial cell differentiation regulator

Basic information

Region (hg38): 17:83079609-83095122

Links

ENSG00000176845 ∙ NCBI:284207 ∙ OMIM:616241 ∙ HGNC:27584 ∙ Uniprot:Q641Q3 ∙ 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 METRNL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the METRNL 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					2	2
missense			26	5	2	33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	5	4

Variants in METRNL

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

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

Position	Type	Phenotype	Significance	ClinVar
17-83079838-C-T		not specified	Uncertain significance (Jun 07, 2024)
17-83079864-C-G		not specified	Likely benign (Apr 13, 2022)
17-83079886-C-T		not specified	Uncertain significance (Dec 06, 2022)
17-83079892-C-T		not specified	Uncertain significance (May 09, 2023)
17-83079898-C-T		not specified	Uncertain significance (Jul 20, 2021)
17-83079943-C-A		not specified	Uncertain significance (Jul 20, 2021)
17-83084987-C-A		not specified	Uncertain significance (Dec 15, 2023)
17-83084998-G-A			Benign (Apr 04, 2018)
17-83085061-C-G		not specified	Uncertain significance (Nov 17, 2022)
17-83085063-C-T		not specified	Uncertain significance (Nov 10, 2022)
17-83085111-C-T		not specified	Uncertain significance (Apr 25, 2023)
17-83085158-G-T		not specified	Uncertain significance (Jan 31, 2024)
17-83085167-G-A		not specified	Uncertain significance (Dec 28, 2022)
17-83085192-A-G			Benign (Jan 30, 2018)
17-83085224-G-C		not specified	Uncertain significance (Jan 10, 2023)
17-83085248-A-G		not specified	Uncertain significance (Jul 05, 2023)
17-83085251-G-A		not specified	Likely benign (Apr 07, 2022)
17-83085278-G-A		not specified	Uncertain significance (Oct 22, 2021)
17-83085287-A-G		not specified	Uncertain significance (May 05, 2022)
17-83085300-C-T		not specified	Uncertain significance (Aug 16, 2021)
17-83093195-G-T		not specified	Uncertain significance (Jul 14, 2022)
17-83093219-C-G		not specified	Uncertain significance (Apr 22, 2024)
17-83094258-G-A		not specified	Uncertain significance (Sep 27, 2022)
17-83094264-G-A		not specified	Uncertain significance (Jan 31, 2023)
17-83094284-C-A			Benign (Jan 30, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
METRNL	protein_coding	protein_coding	ENST00000320095	4	15298

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.745	0.253	125344	0	5	125349	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.11	140	182	0.769	0.0000135	1962
Missense in Polyphen		44	68.485	0.64247		750
Synonymous	-0.362	89	84.8	1.05	0.00000685	675
Loss of Function	2.45	1	8.85	0.113	4.39e-7	111

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000179	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000179	0.000164

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Hormone induced following exercise or cold exposure that promotes energy expenditure. Induced either in the skeletal muscle after exercise or in adipose tissue following cold exposure and is present in the circulation. Able to stimulate energy expenditure associated with the browning of the white fat depots and improves glucose tolerance. Does not promote an increase in a thermogenic gene program via direct action on adipocytes, but acts by stimulating several immune cell subtypes to enter the adipose tissue and activate their prothermogenic actions. Stimulates an eosinophil-dependent increase in IL4 expression and promotes alternative activation of adipose tissue macrophages, which are required for the increased expression of the thermogenic and anti- inflammatory gene programs in fat. Required for some cold-induced thermogenic responses, suggesting a role in metabolic adaptations to cold temperatures (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.130
• rvis_EVS: -0.09
• rvis_percentile_EVS: 46.99

Haploinsufficiency Scores

• pHI: 0.175
• hipred: Y
• hipred_score: 0.691
• ghis: 0.489

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0902

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Metrnl
• Phenotype: skeleton phenotype; hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: response to cold;regulation of signaling receptor activity;response to muscle activity;fat cell differentiation;negative regulation of inflammatory response;brown fat cell differentiation;positive regulation of brown fat cell differentiation;energy homeostasis
• Cellular component: extracellular space;extracellular exosome
• Molecular function: molecular_function;hormone activity