TMEM62

transmembrane protein 62

Basic information

Region (hg38): 15:43123279-43185144

Links

ENSG00000137842 ∙ NCBI:80021 ∙ ∙ HGNC:26269 ∙ Uniprot:Q0P6H9 ∙ 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 TMEM62 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM62 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			40	5		45
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	40	5	0

Variants in TMEM62

This is a list of pathogenic ClinVar variants found in the TMEM62 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-43133806-G-C		not specified	Uncertain significance (May 23, 2024)
15-43133825-G-A		not specified	Uncertain significance (Feb 06, 2024)
15-43133865-G-A		not specified	Uncertain significance (Jul 31, 2024)
15-43133871-G-C		not specified	Uncertain significance (Jan 24, 2024)
15-43133900-C-G		not specified	Uncertain significance (Jul 31, 2024)
15-43133906-T-C		not specified	Uncertain significance (Aug 30, 2021)
15-43133912-G-T		not specified	Uncertain significance (Feb 05, 2025)
15-43133950-C-T		not specified	Uncertain significance (Sep 01, 2021)
15-43133957-A-G		not specified	Uncertain significance (Jan 23, 2025)
15-43134273-T-G		not specified	Uncertain significance (Mar 03, 2025)
15-43134287-G-C		not specified	Uncertain significance (Feb 24, 2023)
15-43134294-G-A		not specified	Uncertain significance (Aug 14, 2024)
15-43134345-A-C		not specified	Uncertain significance (Jan 14, 2025)
15-43134351-C-T		not specified	Uncertain significance (Aug 13, 2021)
15-43135533-C-T		not specified	Uncertain significance (Feb 14, 2025)
15-43135551-C-T		not specified	Uncertain significance (Jul 01, 2024)
15-43135586-G-A		not specified	Likely benign (Jan 02, 2024)
15-43135620-C-A		not specified	Uncertain significance (Aug 04, 2024)
15-43138607-A-G		not specified	Uncertain significance (Apr 13, 2022)
15-43146561-C-T		not specified	Uncertain significance (Jan 22, 2025)
15-43146582-C-T		not specified	Uncertain significance (Jan 29, 2024)
15-43148759-A-C		not specified	Uncertain significance (Sep 10, 2024)
15-43148818-T-C		not specified	Uncertain significance (Jan 22, 2025)
15-43148824-C-G		not specified	Uncertain significance (Jul 05, 2023)
15-43149050-T-G		not specified	Uncertain significance (Nov 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM62	protein_coding	protein_coding	ENST00000260403	14	61868

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.58e-11	0.574	125655	0	93	125748	0.000370

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.12	273	330	0.827	0.0000166	4201
Missense in Polyphen		83	98.023	0.84674		1235
Synonymous	0.836	109	121	0.903	0.00000593	1264
Loss of Function	1.40	21	29.1	0.721	0.00000134	370

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00258	0.00258
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.000496	0.000489
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000239	0.000229
Middle Eastern	0.000496	0.000489
South Asian	0.000278	0.000261
Other	0.000652	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0913

Intolerance Scores

• loftool: 0.439
• rvis_EVS: -0.8
• rvis_percentile_EVS: 12.24

Haploinsufficiency Scores

• pHI: 0.0536
• hipred: N
• hipred_score: 0.350
• ghis: 0.595

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.758

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem62

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: hydrolase activity