TIMM17B

translocase of inner mitochondrial membrane 17B, the group of TIM23 complex|Tim17 family

Basic information

Region (hg38): X:48893446-48898143

Links

ENSG00000126768 ∙ NCBI:10245 ∙ OMIM:300249 ∙ HGNC:17310 ∙ Uniprot:O60830 ∙ 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 TIMM17B gene.

• Inborn genetic diseases (6 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIMM17B 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				2		2
missense			6	1		7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1	1	2
Total	0	0	6	4	1

Variants in TIMM17B

This is a list of pathogenic ClinVar variants found in the TIMM17B region.

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

Position	Type	Phenotype	Significance	ClinVar
X-48893757-C-T		not specified	Uncertain significance (Nov 08, 2022)
X-48893769-G-T			Likely benign (Mar 01, 2023)
X-48893902-T-C		not specified	Uncertain significance (Dec 02, 2021)
X-48893927-G-A		not specified	Uncertain significance (Dec 05, 2022)
X-48893945-C-T		not specified	Uncertain significance (Jul 09, 2021)
X-48894124-A-G			Likely benign (Aug 01, 2022)
X-48894165-C-T		not specified	Uncertain significance (Dec 18, 2023)
X-48894169-G-A		not specified	Uncertain significance (May 18, 2022)
X-48894171-C-T		not specified	Uncertain significance (Oct 26, 2022)
X-48895094-C-T		not specified	Uncertain significance (Jan 10, 2022)
X-48897735-A-G			Likely benign (Dec 01, 2022)
X-48897739-T-A		not specified	Uncertain significance (Apr 12, 2022)
X-48897951-A-G			Likely benign (Oct 05, 2019)
X-48898097-G-A			Benign (Jul 07, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIMM17B	protein_coding	protein_coding	ENST00000396779	7	4697

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0854	0.875	119889	0	2	119891	0.00000834

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.31	55	90.1	0.610	0.00000725	1410
Missense in Polyphen		7	31.065	0.22534		475
Synonymous	0.584	30	34.4	0.873	0.00000267	464
Loss of Function	1.76	3	8.56	0.351	7.08e-7	128

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000130	0.00000936
Middle Eastern	0.00	0.00
South Asian	0.0000549	0.0000343
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.
• Pathway: Metabolism of proteins;Mitochondrial protein import (Consensus)

Recessive Scores

• pRec: 0.121

Intolerance Scores

• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.54

Haploinsufficiency Scores

• pHI: 0.211
• hipred: Y
• hipred_score: 0.644
• ghis: 0.477

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Timm17b

Gene ontology

• Biological process: protein targeting to mitochondrion;protein import into mitochondrial matrix
• Cellular component: mitochondrial inner membrane;TIM23 mitochondrial import inner membrane translocase complex;integral component of mitochondrial inner membrane
• Molecular function: protein binding;protein transmembrane transporter activity;P-P-bond-hydrolysis-driven protein transmembrane transporter activity