TIMM9

translocase of inner mitochondrial membrane 9, the group of TIM22 complex

Basic information

Region (hg38): 14:58408495-58427531

Links

ENSG00000100575 ∙ NCBI:26520 ∙ OMIM:607384 ∙ HGNC:11819 ∙ Uniprot:Q9Y5J7 ∙ 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 TIMM9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIMM9 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			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1		2	3
Total	0	0	2	0	2

Variants in TIMM9

This is a list of pathogenic ClinVar variants found in the TIMM9 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-58408574-C-A		not specified	Uncertain significance (Jun 21, 2023)
14-58409104-A-C		not specified	Uncertain significance (Jan 23, 2024)
14-58427073-T-G			Benign (Jul 06, 2018)
14-58427095-G-C			Benign (Jul 06, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIMM9	protein_coding	protein_coding	ENST00000395159	3	19121

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0208	0.765	125739	0	5	125744	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.645	32	44.0	0.727	0.00000192	579
Missense in Polyphen		7	10.044	0.69695		141
Synonymous	-0.383	16	14.2	1.13	6.05e-7	154
Loss of Function	0.875	3	5.14	0.583	2.16e-7	67

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000620	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000328	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be 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. {ECO:0000269|PubMed:14726512}.
• Pathway: Metabolism of proteins;Mitochondrial protein import (Consensus)

Intolerance Scores

• rvis_EVS: 0.06
• rvis_percentile_EVS: 58

Haploinsufficiency Scores

• pHI: 0.366
• hipred: N
• hipred_score: 0.380
• ghis: 0.569

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Timm9

Gene ontology

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