TIMM23

translocase of inner mitochondrial membrane 23, the group of TIM23 complex|Tim17 family|Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 10:45972489-46003742

Links

ENSG00000265354

∙ NCBI:100287932 ∙ OMIM:605034 ∙ HGNC:17312 ∙ Uniprot:O14925 ∙ 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 TIMM23 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIMM23 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 clinvar			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 TIMM23

This is a list of pathogenic ClinVar variants found in the TIMM23 region.

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

Position	Phenotype	Significance	ClinVar
10-45972688-G-A	not specified	Uncertain significance (Jul 14, 2021)	2237527
10-46003218-T-G	not specified	Uncertain significance (Jan 03, 2024)	3177537
10-46003251-C-G	not specified	Uncertain significance (Mar 08, 2024)	3177538
10-46003286-A-G	not specified	Uncertain significance (Mar 07, 2023)	2495137
10-46003299-T-C	not specified	Uncertain significance (May 30, 2024)	2209659

GnomAD

Source: gnomAD

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: 0.156

Haploinsufficiency Scores

pHI: 0.277
hipred: N
hipred_score: 0.210
ghis: 0.411

Essentials

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

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Timm23
Phenotype: skeleton phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);

Zebrafish Information Network

Gene name: timm23a
Affected structure: head
Phenotype tag: abnormal
Phenotype quality: decreased size

Gene ontology

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