TOMM22

translocase of outer mitochondrial membrane 22, the group of Translocase of outer mitochondrial membrane complex

Basic information

Region (hg38): 22:38681957-38685421

Links

ENSG00000100216

∙ NCBI:56993 ∙ OMIM:607046 ∙ HGNC:18002 ∙ Uniprot:Q9NS69 ∙ 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 TOMM22 gene.

not_specified (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TOMM22 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020243.5. 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			18 clinvar			18
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	18	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TOMM22	protein_coding	protein_coding	ENST00000216034	4	2866

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.608	0.384	125744	0	2	125746	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.929	57	80.4	0.709	0.00000391	905
Missense in Polyphen		9	20.012	0.44973		238
Synonymous	-0.419	36	32.9	1.09	0.00000170	287
Loss of Function	2.14	1	7.19	0.139	3.07e-7	78

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)	0.0000181	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Central receptor component of the translocase of the outer membrane of mitochondria (TOM complex) responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with the peripheral receptor TOM20 functions as the transit peptide receptor and facilitates the movement of preproteins into the translocation pore. {ECO:0000269|PubMed:10982837}.;
Pathway: Metabolism of proteins;Pink/Parkin Mediated Mitophagy;Mitophagy;Mitochondrial protein import (Consensus)

Recessive Scores

pRec: 0.142

Intolerance Scores

loftool: 0.117
rvis_EVS: -0.12
rvis_percentile_EVS: 44.54

Haploinsufficiency Scores

pHI: 0.199
hipred: Y
hipred_score: 0.660
ghis: 0.697

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: S
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Tomm22
Phenotype

Zebrafish Information Network

Gene name: tomm22
Affected structure: cholangiocyte
Phenotype tag: abnormal
Phenotype quality: increased occurrence

Gene ontology

Biological process: protein targeting to mitochondrion;positive regulation of apoptotic process;protein insertion into mitochondrial outer membrane;protein insertion into mitochondrial membrane;protein transmembrane transport
Cellular component: mitochondrion;mitochondrial outer membrane;mitochondrial outer membrane translocase complex;membrane;integral component of membrane
Molecular function: protein binding;protein transmembrane transporter activity