TMBIM4

transmembrane BAX inhibitor motif containing 4, the group of Transmembrane BAX inhibitor motif containing

Basic information

Region (hg38): 12:66135846-66170027

Links

ENSG00000155957 ∙ NCBI:51643 ∙ OMIM:616874 ∙ HGNC:24257 ∙ Uniprot:Q9HC24 ∙ 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 TMBIM4 gene.

• not_specified (28 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMBIM4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016056.4. 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			26	2		28
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	26	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMBIM4	protein_coding	protein_coding	ENST00000358230	7	46144

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000389	0.384	124623	0	165	124788	0.000661

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.511	98	113	0.865	0.00000565	1504
Missense in Polyphen		33	37.271	0.88542		505
Synonymous	0.959	39	47.4	0.823	0.00000242	483
Loss of Function	0.426	9	10.5	0.858	4.41e-7	157

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000356	0.000350
Ashkenazi Jewish	0.00	0.00
East Asian	0.000321	0.000278
Finnish	0.000141	0.000139
European (Non-Finnish)	0.00117	0.00116
Middle Eastern	0.000321	0.000278
South Asian	0.000549	0.000490
Other	0.000505	0.000495

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Anti-apoptotic protein which can inhibit apoptosis induced by intrinsic and extrinsic apoptotic stimuli. Can modulate both capacitative Ca2+ entry and inositol 1,4,5-trisphosphate (IP3)-mediated Ca2+ release. {ECO:0000269|PubMed:17319741, ECO:0000269|PubMed:19553469}.

Recessive Scores

• pRec: 0.123

Intolerance Scores

• loftool: 0.763
• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.98

Haploinsufficiency Scores

• pHI: 0.105
• hipred: N
• hipred_score: 0.112
• ghis: 0.434

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.868

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmbim4

Gene ontology

• Biological process: apoptotic process;negative regulation of apoptotic process;regulation of calcium-mediated signaling
• Cellular component: Golgi membrane;Golgi stack;integral component of membrane
• Molecular function: protein binding