TMEM65

transmembrane protein 65

Basic information

Region (hg38): 8:124306189-124372701

Links

ENSG00000164983 ∙ NCBI:157378 ∙ OMIM:616609 ∙ HGNC:25203 ∙ Uniprot:Q6PI78 ∙ 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 TMEM65 gene.

• not_specified (20 variants)
• not_provided (2 variants)
• TMEM65-related_disorder (1 variants)
• See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM65 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000194291.3. 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				1		1
missense			20	2		22
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	20	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM65	protein_coding	protein_coding	ENST00000297632	7	60703

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.111	0.863	124966	0	3	124969	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.38	58	96.2	0.603	0.00000465	1505
Missense in Polyphen		18	37.096	0.48523		516
Synonymous	0.125	34	34.9	0.973	0.00000178	507
Loss of Function	1.91	3	9.29	0.323	3.92e-7	132

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000673	0.0000673
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	0.000203	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play an important role in cardiac development and function. May regulate cardiac conduction and the function of the gap junction protein GJA1. May contributes to the stability and proper localization of GJA1 to cardiac intercalated disk thereby regulating gap junction communication (By similarity). May also play a role in the regulation of mitochondrial respiration and mitochondrial DNA copy number maintenance (PubMed:28295037). {ECO:0000250|UniProtKB:Q4VAE3, ECO:0000269|PubMed:28295037}.

Intolerance Scores

• loftool: 0.194
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.04

Haploinsufficiency Scores

• pHI: 0.199
• hipred: Y
• hipred_score: 0.545
• ghis: 0.571

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.192

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem65

Zebrafish Information Network

• Gene name: tmem65
• Affected structure: heart
• Phenotype tag: abnormal
• Phenotype quality: morphology

Gene ontology

• Biological process: cardiac ventricle development;regulation of cardiac conduction
• Cellular component: mitochondrial inner membrane;plasma membrane;intercalated disc;integral component of membrane