TMEM266

transmembrane protein 266

Basic information

Region (hg38): 15:76059957-76229121

Previous symbols: [ "C15orf27" ]

Links

ENSG00000169758 ∙ NCBI:123591 ∙ OMIM:618691 ∙ HGNC:26763 ∙ Uniprot:Q2M3C6 ∙ 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 TMEM266 gene.

• Multiple acyl-CoA dehydrogenase deficiency (47 variants)
• Inborn genetic diseases (21 variants)
• not provided (14 variants)
• not specified (4 variants)
• Glutaric acidemia type 2A (2 variants)
• Glutaric acidemia IIa (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM266 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			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			17	34	9	60
Total	0	0	36	35	9

Variants in TMEM266

This is a list of pathogenic ClinVar variants found in the TMEM266 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-76137741-A-G		not specified	Uncertain significance (Dec 21, 2022)
15-76137811-G-A		not specified	Uncertain significance (Jun 29, 2023)
15-76137834-G-A		not specified	Uncertain significance (Jun 30, 2023)
15-76137892-A-G		not specified	Uncertain significance (Oct 04, 2022)
15-76156674-C-G		not specified	Uncertain significance (Aug 11, 2022)
15-76160103-G-T		not specified	Uncertain significance (Sep 21, 2023)
15-76169817-C-G		not specified	Uncertain significance (Oct 13, 2023)
15-76175609-G-A		not specified	Uncertain significance (Oct 05, 2023)
15-76175652-C-T		not specified	Uncertain significance (May 25, 2022)
15-76192043-C-G		not specified	Uncertain significance (Jan 03, 2022)
15-76192047-C-A		not specified	Uncertain significance (Mar 20, 2023)
15-76192049-C-G		not specified	Uncertain significance (Mar 20, 2023)
15-76203746-G-A		not specified	Uncertain significance (Jan 19, 2024)
15-76203771-T-C		not specified	Uncertain significance (Oct 06, 2023)
15-76203780-C-T		not specified	Uncertain significance (Apr 13, 2022)
15-76203785-G-A		not specified	Uncertain significance (Oct 20, 2023)
15-76203788-A-G		not specified	Uncertain significance (Mar 22, 2023)
15-76203792-A-C		not specified	Uncertain significance (Feb 05, 2024)
15-76203806-A-C		not specified	Uncertain significance (Aug 01, 2022)
15-76203839-C-A		not specified	Uncertain significance (Jan 23, 2024)
15-76203950-T-C		not specified	Uncertain significance (Sep 29, 2022)
15-76203962-C-T		not specified	Uncertain significance (Feb 15, 2023)
15-76204002-C-T		not specified	Uncertain significance (Nov 03, 2023)
15-76204014-A-C		not specified	Uncertain significance (Nov 30, 2022)
15-76204029-A-C		not specified	Uncertain significance (Dec 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM266	protein_coding	protein_coding	ENST00000388942	10	169285

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.94e-7	0.882	125688	0	60	125748	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.751	278	316	0.881	0.0000191	3457
Missense in Polyphen		90	110.77	0.8125		1254
Synonymous	-0.823	158	145	1.09	0.0000106	1074
Loss of Function	1.63	14	22.3	0.628	9.53e-7	255

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000639	0.000626
Ashkenazi Jewish	0.0000997	0.0000992
East Asian	0.0000556	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000295	0.000290
Middle Eastern	0.0000556	0.0000544
South Asian	0.000243	0.000229
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.2
• rvis_percentile_EVS: 67.36

Haploinsufficiency Scores

• pHI: 0.257
• hipred: N
• hipred_score: 0.216
• ghis: 0.529

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Tmem266

Gene ontology

• Cellular component: cytosol;plasma membrane;integral component of membrane