TMEM82

transmembrane protein 82

Basic information

Region (hg38): 1:15742499-15747982

Links

ENSG00000162460 ∙ NCBI:388595 ∙ ∙ HGNC:32350 ∙ Uniprot:A0PJX8 ∙ 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 TMEM82 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM82 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			38	2		40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	4	0

Variants in TMEM82

This is a list of pathogenic ClinVar variants found in the TMEM82 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-15742573-C-T		not specified	Likely benign (Jan 14, 2025)
1-15742578-C-G		not specified	Uncertain significance (Feb 26, 2024)
1-15742593-C-T		not specified	Uncertain significance (Jul 11, 2023)
1-15742609-T-G		not specified	Uncertain significance (Jun 22, 2023)
1-15742611-G-A		not specified	Uncertain significance (Sep 10, 2024)
1-15742621-C-T		not specified	Uncertain significance (Nov 07, 2023)
1-15742843-G-A		not specified	Uncertain significance (Mar 25, 2024)
1-15742853-G-A		not specified	Uncertain significance (Jan 17, 2025)
1-15742872-C-G		not specified	Uncertain significance (Mar 24, 2023)
1-15742877-T-A		not specified	Uncertain significance (May 30, 2023)
1-15743031-G-A		not specified	Uncertain significance (Aug 04, 2023)
1-15743039-G-A		not specified	Uncertain significance (Mar 11, 2024)
1-15743090-G-A		not specified	Uncertain significance (Jan 06, 2023)
1-15743111-A-T		not specified	Uncertain significance (Dec 17, 2023)
1-15743150-G-A		not specified	Uncertain significance (Nov 08, 2022)
1-15743157-C-T		not specified	Uncertain significance (Sep 02, 2024)
1-15743162-C-T		not specified	Uncertain significance (Aug 12, 2024)
1-15743168-G-A		not specified	Uncertain significance (Jul 30, 2024)
1-15744161-G-A		not specified	Uncertain significance (Jul 26, 2021)
1-15744169-G-T		not specified	Uncertain significance (Feb 15, 2025)
1-15744175-G-A		not specified	Likely benign (Dec 03, 2024)
1-15744178-G-A		not specified	Uncertain significance (Oct 28, 2024)
1-15744180-G-C		not specified	Uncertain significance (Mar 19, 2024)
1-15744200-T-C		not specified	Uncertain significance (Jun 23, 2023)
1-15744223-G-A		not specified	Uncertain significance (May 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM82	protein_coding	protein_coding	ENST00000375782	6	5561

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.01e-7	0.327	125376	0	39	125415	0.000156

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0444	215	213	1.01	0.0000146	2079
Missense in Polyphen		75	76.01	0.98671		769
Synonymous	0.151	106	108	0.981	0.00000731	814
Loss of Function	0.489	11	12.9	0.853	6.37e-7	127

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000472	0.000430
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000150	0.000141
Middle Eastern	0.000110	0.000109
South Asian	0.000392	0.000327
Other	0.000345	0.000327

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.776
• rvis_EVS: 1.15
• rvis_percentile_EVS: 92.56

Haploinsufficiency Scores

• pHI: 0.196
• hipred: N
• hipred_score: 0.197

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.252

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem82

Gene ontology

• Cellular component: integral component of membrane