TIMM10B

translocase of inner mitochondrial membrane 10B, the group of TIM22 complex

Basic information

Region (hg38): 11:6481501-6484681

Previous symbols: [ "FXC1" ]

Links

ENSG00000132286 ∙ NCBI:26515 ∙ OMIM:607388 ∙ HGNC:4022 ∙ Uniprot:Q9Y5J6 ∙ 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 TIMM10B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIMM10B 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						0
missense			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in TIMM10B

This is a list of pathogenic ClinVar variants found in the TIMM10B region.

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

Position	Type	Phenotype	Significance	ClinVar
11-6481527-A-C		not specified	Uncertain significance (Mar 28, 2023)
11-6481532-C-G		not specified	Uncertain significance (Jun 21, 2023)
11-6482099-A-C		not specified	Uncertain significance (Jul 31, 2023)
11-6482116-G-T		not specified	Uncertain significance (Mar 29, 2024)
11-6482195-C-G		not specified	Uncertain significance (May 17, 2023)
11-6482213-G-C		not specified	Uncertain significance (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIMM10B	protein_coding	protein_coding	ENST00000254616	3	3233

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.51e-7	0.0951	125724	0	21	125745	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.493	71	60.2	1.18	0.00000295	647
Missense in Polyphen		17	14.528	1.1701		181
Synonymous	-0.529	28	24.7	1.14	0.00000130	209
Loss of Function	-0.872	8	5.74	1.39	2.59e-7	52

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000188	0.000181
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.000111	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000112	0.000105
Middle Eastern	0.000111	0.000109
South Asian	0.00	0.00
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin- pore translocase that uses the membrane potential as the external driving force. In the TIM22 complex, it may act as a docking point for the soluble 70 kDa complex that guides the target proteins in transit through the aqueous mitochondrial intermembrane space. {ECO:0000269|PubMed:14726512}.
• Pathway: Metabolism of proteins;Mitochondrial protein import (Consensus)

Recessive Scores

• pRec: 0.0939

Intolerance Scores

• rvis_EVS: 0.3
• rvis_percentile_EVS: 72.01

Haploinsufficiency Scores

• pHI: 0.135
• hipred: N
• hipred_score: 0.146
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Timm10b

Gene ontology

• Biological process: protein targeting to mitochondrion;cell-matrix adhesion
• Cellular component: mitochondrial inner membrane;mitochondrial intermembrane space;mitochondrial intermembrane space protein transporter complex;TIM22 mitochondrial import inner membrane insertion complex
• Molecular function: protein binding;metal ion binding