TMEM182

transmembrane protein 182

Basic information

Region (hg38): 2:102736904-103019900

Links

ENSG00000170417 ∙ NCBI:130827 ∙ ∙ HGNC:26391 ∙ Uniprot:Q6ZP80 ∙ 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 TMEM182 gene.

• Inborn genetic diseases (6 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM182 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			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	1

Variants in TMEM182

This is a list of pathogenic ClinVar variants found in the TMEM182 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-102762228-A-G		not specified	Uncertain significance (Mar 29, 2022)
2-102762252-T-C		not specified	Uncertain significance (Feb 26, 2024)
2-102764375-G-A			Benign (Jul 27, 2017)
2-102764396-G-T		not specified	Uncertain significance (Feb 11, 2022)
2-102797868-C-T		not specified	Uncertain significance (Jan 03, 2024)
2-102797910-G-A		not specified	Uncertain significance (Jan 27, 2022)
2-102797940-G-A		not specified	Uncertain significance (Feb 06, 2023)
2-102814849-T-G		not specified	Uncertain significance (Jul 26, 2022)
2-102814902-A-G		not specified	Uncertain significance (Jan 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM182	protein_coding	protein_coding	ENST00000412401	5	106986

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0556	0.928	125731	0	12	125743	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0920	122	125	0.977	0.00000629	1492
Missense in Polyphen		73	70.111	1.0412		878
Synonymous	-1.79	65	49.1	1.33	0.00000275	442
Loss of Function	2.08	4	11.7	0.343	5.81e-7	130

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000178	0.000178
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000529	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.426
• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.49

Haploinsufficiency Scores

• pHI: 0.329
• hipred: N
• hipred_score: 0.398
• ghis: 0.503

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.247

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem182

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: protein binding