TIMM23B

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

Basic information

Region (hg38): 10:49942049-49974850

Links

ENSG00000204152 ∙ NCBI:100652748 ∙ ∙ HGNC:23581 ∙ Uniprot:Q5SRD1 ∙ 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 TIMM23B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIMM23B 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIMM23B	protein_coding	protein_coding	ENST00000374098	6	16379

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.127	0.630	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.537	3	7.00	0.429	3.61e-7	1088
Missense in Polyphen		0	0.14735	0		481
Synonymous	0.853	1	2.82	0.354	1.65e-7	346
Loss of Function	0.482	1	1.67	0.598	1.36e-7	109

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May participate in the translocation of transit peptide- containing proteins across the mitochondrial inner membrane. the PAM complex (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.113

Haploinsufficiency Scores

• pHI: 0.171
• ghis: 0.520

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.00970

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)

Gene ontology

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