TIMM17B

protein-coding

translocase of inner mitochondrial membrane 17B, the group of TIM23 complex|Tim17 family

Gene summary

This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins from the cytosol across the mitochondrial inner membrane and into the mitochondrion. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

MANE transcript

NM_001395498.1

Inheritance

—

ClinVar variants

U:36B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.35

Max pathogenic AF

—

Genomic locus

chrX:48,893,447-48,898,143

External References & Databases

Ensembl (ENSG00000126768)

Transcript & Mutation Effects

hg38 • Region Span ~4.7 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 TIMM17B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 21

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001395498.1. 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			3 clinvar	2 clinvar		5
missense			24 clinvar	1 clinvar		25
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			9 clinvar			9
Total	0	0	36	3	0	39

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 49 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001395498.1	RefSeq	NP_001382427.1	6	MANE Select
ENST00000696123.1	Ensembl	ENSP00000512416.1	6	MANE Select
NM_001167947.2	RefSeq	NP_001161419.1	7	Standard
NM_001395497.1	RefSeq	NP_001382426.1	7	Standard

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

mitochondrial inner membrane
TIM23 mitochondrial import inner membrane translocase complex
integral component of mitochondrial inner membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000396779
Coding exons: 7
Length: 4697
Individuals with no LoFs: 119889
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 119891
p: 0.00000834

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.31	55	90.1	0.610	0.00000725	1410
Missense (PolyPhen)		7	31.065	0.22534		475
Synonymous	0.584	30	34.4	0.873	0.00000267	464
Loss of Function	1.76	3	8.56	0.351	7.08e-7	128

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000013	0.0000094	rare
South Asian	0.000055	0.000034	rare
Other	0	0.0	absent

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: 0.121

Intolerance Scores

RVIS EVS: -0.12
RVIS percentile EVS: 44.54

Essentials

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

Gene Damage Prediction

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