TMEM262

transmembrane protein 262

Basic information

Region (hg38): 11:65084978-65089375

Links

ENSG00000187066 ∙ NCBI:100130348 ∙ ∙ HGNC:49389 ∙ Uniprot:E9PQX1 ∙ 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 TMEM262 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM262 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				1		1
missense			2	1		3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	2	0

Variants in TMEM262

This is a list of pathogenic ClinVar variants found in the TMEM262 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-65085167-A-G		not specified	Uncertain significance (Mar 25, 2024)
11-65085173-G-A		not specified	Uncertain significance (Nov 16, 2021)
11-65085202-G-C		not specified	Uncertain significance (Oct 10, 2023)
11-65085212-G-A		not specified	Uncertain significance (May 14, 2024)
11-65086445-G-A		not specified	Uncertain significance (Mar 01, 2024)
11-65086480-G-A		not specified	Uncertain significance (Jun 13, 2023)
11-65086523-C-G		not specified	Uncertain significance (Apr 25, 2022)
11-65086586-G-A		not specified	Uncertain significance (Oct 12, 2021)
11-65086592-G-T		not specified	Uncertain significance (Jul 19, 2023)
11-65086756-A-G		not specified	Uncertain significance (Oct 12, 2021)
11-65086994-C-A		not specified	Uncertain significance (Nov 30, 2022)
11-65087015-C-T		not specified	Uncertain significance (May 30, 2023)
11-65087054-A-G		not specified	Likely benign (May 31, 2022)
11-65087333-G-A		not specified	Uncertain significance (Mar 28, 2024)
11-65087373-A-G		not specified	Uncertain significance (Dec 15, 2021)
11-65087400-G-A		not specified	Uncertain significance (Jan 07, 2022)
11-65087945-G-A		not specified	Uncertain significance (Jan 23, 2024)
11-65087951-G-T		not specified	Uncertain significance (Mar 29, 2024)
11-65087954-C-T		not specified	Uncertain significance (Sep 16, 2021)
11-65087971-C-T		not specified	Uncertain significance (Oct 06, 2023)
11-65087972-G-A		not specified	Uncertain significance (Dec 16, 2023)
11-65088043-C-T		not specified	Uncertain significance (Jun 07, 2024)
11-65088044-G-A		not specified	Uncertain significance (Nov 14, 2023)
11-65088098-G-A		not specified	Uncertain significance (Nov 09, 2021)
11-65088524-G-A		not specified	Likely benign (Nov 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM262	protein_coding	protein_coding	ENST00000530719	3	4397

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000291	0.360	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.828	54	74.0	0.729	0.00000453	780
Missense in Polyphen		4	3.5246	1.1349		28
Synonymous	1.53	19	29.6	0.642	0.00000205	203
Loss of Function	-0.190	5	4.56	1.10	1.93e-7	53

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem262

Gene ontology

• Cellular component: integral component of membrane