TIMM13

translocase of inner mitochondrial membrane 13

Basic information

Region (hg38): 19:2425625-2427586

Previous symbols: [ "TIMM13B" ]

Links

ENSG00000099800

∙ NCBI:26517 ∙ OMIM:607383 ∙ HGNC:11816 ∙ Uniprot:Q9Y5L4 ∙ 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 TIMM13 gene.

not_specified (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIMM13 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012458.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			16 clinvar			16
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	17	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIMM13	protein_coding	protein_coding	ENST00000215570	3	2271

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0625	0.738	125552	0	26	125578	0.000104

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.349	65	57.5	1.13	0.00000259	619
Missense in Polyphen		23	19.103	1.204		233
Synonymous	-1.16	31	23.8	1.30	0.00000111	179
Loss of Function	0.844	2	3.77	0.531	1.60e-7	45

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000876	0.000740
Ashkenazi Jewish	0.0000996	0.0000993
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000731	0.0000705
Middle Eastern	0.000164	0.000163
South Asian	0.0000327	0.0000327
Other	0.000179	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. {ECO:0000269|PubMed:11489896, ECO:0000269|PubMed:15254020}.;
Pathway: Metabolism of proteins;Mitochondrial protein import (Consensus)

Recessive Scores

pRec: 0.134

Intolerance Scores

loftool: 0.596
rvis_EVS: -0.03
rvis_percentile_EVS: 51.04

Haploinsufficiency Scores

pHI: 0.105
hipred: Y
hipred_score: 0.796
ghis: 0.644

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: E
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.849

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Timm13
Phenotype

Gene ontology

Biological process: protein targeting to mitochondrion;sensory perception of sound;protein insertion into mitochondrial inner membrane;chaperone-mediated protein transport
Cellular component: fibrillar center;mitochondrion;mitochondrial inner membrane;mitochondrial intermembrane space protein transporter complex
Molecular function: zinc ion binding;protein transporter activity