TIMM8B

translocase of inner mitochondrial membrane 8 homolog B

Basic information

Region (hg38): 11:112084800-112086798

Links

ENSG00000150779

∙ NCBI:26521 ∙ OMIM:606659 ∙ HGNC:11818 ∙ Uniprot:Q9Y5J9 ∙ 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 TIMM8B gene.

not_specified (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIMM8B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012459.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			16 clinvar			16
nonsense						0
start loss			1			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	17	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIMM8B	protein_coding	protein_coding	ENST00000541231	2	1999

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00865	0.590	125703	0	44	125747	0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.578	72	59.5	1.21	0.00000317	637
Missense in Polyphen		7	8.6103	0.81298		131
Synonymous	-2.33	34	20.5	1.66	9.01e-7	184
Loss of Function	0.242	3	3.49	0.860	1.47e-7	41

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000414	0.000396
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000156	0.000139
European (Non-Finnish)	0.000281	0.000264
Middle Eastern	0.00	0.00
South Asian	0.0000675	0.0000653
Other	0.000170	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Probable mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space (By similarity). {ECO:0000250}.;
Pathway: Metabolism of proteins;Mitochondrial protein import (Consensus)

Recessive Scores

pRec: 0.145

Intolerance Scores

loftool: 0.612
rvis_EVS: -0.14
rvis_percentile_EVS: 42.88

Haploinsufficiency Scores

pHI: 0.336
hipred: N
hipred_score: 0.231
ghis: 0.602

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: H
gene_indispensability_pred: E
gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Timm8b
Phenotype

Gene ontology

Biological process: protein targeting to mitochondrion;sensory perception of sound;chaperone-mediated protein transport
Cellular component: extracellular space;mitochondrial inner membrane;mitochondrial intermembrane space protein transporter complex
Molecular function: zinc ion binding