METRN

meteorin, glial cell differentiation regulator

Basic information

Region (hg38): 16:715118-719655

Previous symbols: [ "C16orf23" ]

Links

ENSG00000103260 ∙ NCBI:79006 ∙ OMIM:610998 ∙ HGNC:14151 ∙ Uniprot:Q9UJH8 ∙ 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 METRN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the METRN 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			32	1		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	32	1	0

Variants in METRN

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

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

Position	Type	Phenotype	Significance	ClinVar
16-715345-C-T		not specified	Uncertain significance (Aug 26, 2022)
16-715353-C-T		not specified	Uncertain significance (Apr 08, 2022)
16-715363-A-G		not specified	Uncertain significance (Apr 07, 2023)
16-715377-T-A		not specified	Uncertain significance (Feb 13, 2024)
16-715601-C-G		not specified	Uncertain significance (Jun 05, 2024)
16-715601-C-T		not specified	Uncertain significance (Mar 25, 2024)
16-715604-G-A		not specified	Uncertain significance (Dec 19, 2023)
16-715663-G-A		not specified	Uncertain significance (May 02, 2024)
16-715714-G-T		not specified	Uncertain significance (Jan 06, 2023)
16-715757-A-G		not specified	Uncertain significance (Jan 20, 2023)
16-715764-C-A		not specified	Uncertain significance (Aug 10, 2021)
16-715777-G-C		not specified	Uncertain significance (Mar 31, 2023)
16-715814-G-A		not specified	Uncertain significance (Mar 21, 2022)
16-715820-C-G		not specified	Uncertain significance (Jun 07, 2024)
16-715823-G-C		not specified	Uncertain significance (Feb 05, 2024)
16-715840-T-C		not specified	Uncertain significance (Sep 16, 2021)
16-715842-G-C		not specified	Uncertain significance (Dec 01, 2022)
16-715867-T-C		not specified	Uncertain significance (May 26, 2023)
16-715887-C-G		not specified	Uncertain significance (Sep 20, 2023)
16-715904-G-C		not specified	Uncertain significance (Sep 26, 2023)
16-716984-G-T		not specified	Uncertain significance (Jan 10, 2022)
16-717098-C-T		not specified	Uncertain significance (Sep 20, 2023)
16-717106-G-A		not specified	Uncertain significance (Mar 04, 2024)
16-717145-C-T		not specified	Uncertain significance (Jun 17, 2022)
16-717154-C-T		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
METRN	protein_coding	protein_coding	ENST00000568223	4	4541

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0947	0.780	123899	0	6	123905	0.0000242

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.543	93	109	0.854	0.00000690	1771
Missense in Polyphen		29	35.507	0.81675		680
Synonymous	-0.793	57	49.9	1.14	0.00000331	671
Loss of Function	1.16	2	4.73	0.422	2.04e-7	83

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000292	0.0000292
Ashkenazi Jewish	0.000106	0.000101
East Asian	0.00	0.00
Finnish	0.0000467	0.0000466
European (Non-Finnish)	0.0000270	0.0000268
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in both glial cell differentiation and axonal network formation during neurogenesis. Promotes astrocyte differentiation and transforms cerebellar astrocytes into radial glia. Also induces axonal extension in small and intermediate neurons of sensory ganglia by activating nearby satellite glia (By similarity). {ECO:0000250}.

Haploinsufficiency Scores

• pHI: 0.0977
• hipred: N
• hipred_score: 0.318
• ghis: 0.613

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.362

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Metrn

Gene ontology

• Biological process: glial cell differentiation;positive regulation of axonogenesis
• Cellular component: extracellular space