TMBIM6

transmembrane BAX inhibitor motif containing 6, the group of Transmembrane BAX inhibitor motif containing

Basic information

Region (hg38): 12:49707725-49764934

Previous symbols: [ "TEGT" ]

Links

ENSG00000139644 ∙ NCBI:7009 ∙ OMIM:600748 ∙ HGNC:11723 ∙ Uniprot:P55061 ∙ 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 TMBIM6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMBIM6 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			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			5			5
Total	0	0	22	0	1

Variants in TMBIM6

This is a list of pathogenic ClinVar variants found in the TMBIM6 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-49742185-C-T		not specified	Uncertain significance (Mar 26, 2024)
12-49742222-G-T		not specified	Uncertain significance (Jul 06, 2021)
12-49742225-G-A		not specified	Uncertain significance (Oct 08, 2024)
12-49742245-G-A		not specified	Likely benign (Mar 08, 2025)
12-49742252-C-G		not specified	Uncertain significance (Feb 18, 2025)
12-49742259-C-A		not specified	Uncertain significance (Mar 24, 2023)
12-49742279-A-G		not specified	Uncertain significance (Jun 21, 2021)
12-49752546-A-T		not specified	Uncertain significance (Jan 27, 2022)
12-49752982-A-G			Benign (Mar 29, 2018)
12-49752984-C-T		not specified	Uncertain significance (May 26, 2023)
12-49753003-G-T		not specified	Uncertain significance (Mar 18, 2024)
12-49753005-T-G		not specified	Uncertain significance (Feb 14, 2025)
12-49753027-T-G		not specified	Uncertain significance (Oct 10, 2023)
12-49753053-A-G		not specified	Uncertain significance (Mar 02, 2023)
12-49753053-A-T		not specified	Uncertain significance (Feb 09, 2025)
12-49753059-A-G		not specified	Uncertain significance (Nov 17, 2023)
12-49755656-G-A		not specified	Uncertain significance (Oct 12, 2024)
12-49758239-G-T		not specified	Uncertain significance (Dec 21, 2023)
12-49758256-T-C		not specified	Uncertain significance (Sep 14, 2023)
12-49758259-A-G		not specified	Uncertain significance (Dec 09, 2024)
12-49758427-G-C		not specified	Uncertain significance (Dec 15, 2022)
12-49758448-A-G		not specified	Uncertain significance (May 04, 2022)
12-49759245-G-T		not specified	Uncertain significance (Feb 22, 2025)
12-49759260-G-A		not specified	Uncertain significance (Mar 25, 2024)
12-49759291-A-C		not specified	Uncertain significance (Oct 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMBIM6	protein_coding	protein_coding	ENST00000423828	10	57210

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0150	0.980	125708	0	39	125747	0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.593	143	164	0.870	0.00000822	1935
Missense in Polyphen		41	47.585	0.86161		600
Synonymous	0.209	59	61.1	0.966	0.00000323	572
Loss of Function	2.45	6	16.8	0.356	7.78e-7	195

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000900	0.000894
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000949	0.0000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000982	0.0000980
Other	0.000580	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Suppressor of apoptosis (PubMed:21075086). Modulates unfolded protein response signaling (PubMed:21075086). Modulates ER calcium homeostasis by acting as a calcium-leak channel (PubMed:22128171). Negatively regulates autophagy and autophagosome formation, especially during periods of nutrient deprivation, and reduces cell survival during starvation (By similarity). {ECO:0000250|UniProtKB:Q9D2C7, ECO:0000269|PubMed:21075086, ECO:0000269|PubMed:22128171}.

Recessive Scores

• pRec: 0.140

Intolerance Scores

• loftool: 0.764
• rvis_EVS: -0.25
• rvis_percentile_EVS: 35.42

Haploinsufficiency Scores

• pHI: 0.0997
• hipred: Y
• hipred_score: 0.630
• ghis: 0.589

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.928

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmbim6
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: autophagy;negative regulation of calcium ion transport into cytosol;negative regulation of protein binding;endoplasmic reticulum calcium ion homeostasis;negative regulation of RNA splicing;cellular response to unfolded protein;negative regulation of apoptotic process;negative regulation of immunoglobulin secretion;negative regulation of endoribonuclease activity;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;response to L-glutamate;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway;negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress;negative regulation of apoptotic signaling pathway
• Cellular component: nucleus;cytoplasm;endoplasmic reticulum;endoplasmic reticulum membrane;integral component of plasma membrane;membrane;integral component of membrane;mitochondrial membrane
• Molecular function: protein binding;enzyme binding;ubiquitin protein ligase binding;endoribonuclease inhibitor activity