TMEM26

transmembrane protein 26

Basic information

Region (hg38): 10:61406642-61453381

Links

ENSG00000196932 ∙ NCBI:219623 ∙ OMIM:617803 ∙ HGNC:28550 ∙ Uniprot:Q6ZUK4 ∙ 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 TMEM26 gene.

• not_specified (61 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM26 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000178505.8. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			58	3		61
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM26	protein_coding	protein_coding	ENST00000399298	6	46808

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.07e-8	0.260	124745	0	52	124797	0.000208

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.599	228	204	1.12	0.0000112	2360
Missense in Polyphen		94	81.118	1.1588		991
Synonymous	-1.15	101	87.4	1.16	0.00000501	762
Loss of Function	0.515	13	15.2	0.857	7.12e-7	162

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000469	0.000339
Ashkenazi Jewish	0.00	0.00
East Asian	0.000557	0.000556
Finnish	0.000325	0.000325
European (Non-Finnish)	0.0000539	0.0000530
Middle Eastern	0.000557	0.000556
South Asian	0.000589	0.000588
Other	0.000498	0.000495

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.439
• rvis_EVS: -0.76
• rvis_percentile_EVS: 13.33

Haploinsufficiency Scores

• pHI: 0.228
• hipred: N
• hipred_score: 0.227
• ghis: 0.456

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.246

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem26

Gene ontology

• Cellular component: integral component of membrane