TIMM23B
protein-codingtranslocase of inner mitochondrial membrane 23 homolog B, the group of Small nucleolar RNA protein coding host genes|TIM23 complex
Gene summary
Predicted to enable transmembrane protein transporter activity. Predicted to be involved in protein import into mitochondrial matrix. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~32.8 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to TIMM23B variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001277046.1 | 7 | MANE Select | |
| Ensembl | ENSP00000502369.1 | 7 | MANE Select | |
| RefSeq | NP_001277047.1 | 5 | Standard | |
| RefSeq | NP_001352800.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- biological_process
- protein import into mitochondrial matrix
Molecular Function
- molecular_function
- protein transmembrane transporter activity
- P-P-bond-hydrolysis-driven protein transmembrane transporter activity
Cellular Component
- cellular_component
- TIM23 mitochondrial import inner membrane translocase complex
- integral component of mitochondrial inner membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000374098
- Coding exons
- 6
- Length
- 16379
- Individuals with no LoFs
- 0
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 0
- Defined
- 0
- p
- 0.00
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.537 | 3 | 7.00 | 0.429 | 3.61e-7 | 1088 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- 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
Essentials
- Indispensability pred.
- N
- Indispensability score
- 0.00970