TIMM29

translocase of inner mitochondrial membrane 29, the group of TIM22 complex

Basic information

Region (hg38): 19:10928811-10933535

Previous symbols: [ "C19orf52" ]

Links

ENSG00000142444 ∙ NCBI:90580 ∙ OMIM:617380 ∙ HGNC:25152 ∙ Uniprot:Q9BSF4 ∙ 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 TIMM29 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIMM29 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			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 TIMM29

This is a list of pathogenic ClinVar variants found in the TIMM29 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-10929149-C-T		not specified	Uncertain significance (Jul 15, 2021)
19-10929193-G-A		not specified	Uncertain significance (Jul 09, 2021)
19-10929556-T-C		not specified	Uncertain significance (Sep 01, 2021)
19-10929580-G-A		not specified	Uncertain significance (Nov 15, 2021)
19-10929592-G-A		not specified	Uncertain significance (Dec 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIMM29	protein_coding	protein_coding	ENST00000270502	2	4803

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000155	0.449	124912	0	9	124921	0.0000360

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.105	134	131	1.03	0.00000624	1599
Missense in Polyphen		35	42.592	0.82175		561
Synonymous	-1.50	79	63.8	1.24	0.00000329	579
Loss of Function	0.246	6	6.69	0.897	2.90e-7	73

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000548	0.0000545
Finnish	0.00	0.00
European (Non-Finnish)	0.0000539	0.0000533
Middle Eastern	0.0000548	0.0000545
South Asian	0.0000338	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. The TIM22 complex forms a twin- pore translocase that uses the membrane potential as the external driving force. Required for the stability of the TIM22 complex and functions in the assembly of the TIMM22 protein into the TIM22 complex. May facilitate cooperation between TIM22 and TOM complexes by interacting with TOMM40. {ECO:0000269|PubMed:27554484, ECO:0000269|PubMed:27718247}.

Haploinsufficiency Scores

• pHI: 0.118
• hipred: N
• hipred_score: 0.354
• ghis: 0.623

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Timm29

Gene ontology

• Biological process: protein insertion into mitochondrial inner membrane
• Cellular component: mitochondrial inner membrane;mitochondrial intermembrane space;integral component of membrane;TIM22 mitochondrial import inner membrane insertion complex
• Molecular function: protein binding