TIMM23

protein-coding

translocase of inner mitochondrial membrane 23, the group of TIM23 complex|Tim17 family|Small nucleolar RNA protein coding host genes

Gene summary

The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012]

MANE transcript

NM_006327.4

Inheritance

—

ClinVar variants

U:11B:1

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr10:45,972,489-46,003,742

External References & Databases

Ensembl (ENSG00000265354)

NCBI Gene (100287932)

Transcript & Mutation Effects

hg38 • Region Span ~31.3 kb

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GenCC 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 TIMM23 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 11

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006327.4. 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			10 clinvar	1 clinvar		11
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	11	1	0	12

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 44 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006327.4	RefSeq	NP_006318.1	7	MANE Select
ENST00000580018.4	Ensembl	ENSP00000464522.3	7	MANE Select
ENST00000904349.1	Ensembl	ENSP00000574408.1	2	Standard
ENST00000904349.2	Ensembl	ENSP00000574408.1	2	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
timm23a	Danio rerio	Structure: head Quality: decreased size abnormal

Gene / Model

Organism

Observed Phenotype

timm23a

Danio rerio

Structure: head

Quality: decreased size

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metabolism of proteins
Mitochondrial protein import

Biological Process

protein targeting to mitochondrion
protein import into mitochondrial matrix

Molecular Function

protein binding
protein transmembrane transporter activity
P-P-bond-hydrolysis-driven protein transmembrane transporter activity

Cellular Component

mitochondrion
mitochondrial inner membrane
TIM23 mitochondrial import inner membrane translocase complex
mitochondrial intermembrane space
integral component of mitochondrial inner membrane

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane.;

Recessive Scores

pRec: 0.156

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.801

Gene Damage Prediction

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