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.

not_specified (35 variants)
not_provided (1 variants)

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. These statistics are base on transcript: NM_000003217.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			26 clinvar			26
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	26	0	1

Loading clinvar variants...

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