TRABD

protein-coding

TraB domain containing

Gene summary

Enables mitochondrion-mitochondrion outer membrane tether activity. Involved in mitochondrial fusion and protein localization to mitochondrion. Located in mitochondrion. Part of TOM complex. Is active in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001320485.2

Inheritance

—

ClinVar variants

U:60B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.33

Max pathogenic AF

—

Genomic locus

chr22:50,185,913-50,199,598

External References & Databases

Ensembl (ENSG00000170638)

Transcript & Mutation Effects

hg38 • Region Span ~13.7 kb

Loading mutation effect viewer...

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 TRABD variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 62

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001320485.2. 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		3
missense			55 clinvar	6 clinvar		61
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	60	9	0	69

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 108 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001320485.2	RefSeq	NP_001307414.1	9	MANE Select
ENST00000380909.9	Ensembl	ENSP00000370295.4	9	MANE Select
NM_001320484.2	RefSeq	NP_001307413.1	9	Standard
NM_001320487.2	RefSeq	NP_001307416.1	9	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000303434
Coding exons: 9
Length: 13684
Individuals with no LoFs: 125646
Homozygous LoFs: 0
Heterozygous LoFs: 14
Defined: 125660
p: 0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.931	224	267	0.840	0.0000196	2418
Missense (PolyPhen)		49	84.215	0.58184		763
Synonymous	-0.665	127	118	1.08	0.00000937	771
Loss of Function	2.62	6	18.0	0.334	9.47e-7	187

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0.00060	0.00060	rare
East Asian	0.00011	0.00011	rare
Finnish	0.000048	0.000046	rare
European (Non-Finnish)	0.000036	0.000035	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.105

Intolerance Scores

LoFtool: 0.0721
RVIS EVS: -1.18
RVIS percentile EVS: 5.94

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.885

Gene Damage Prediction

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