TOR4A

protein-coding

torsin family 4 member A, the group of Torsins

Gene summary

Predicted to enable ATP binding activity and ATP hydrolysis activity. Predicted to be located in extracellular region and platelet alpha granule lumen. Predicted to be active in endoplasmic reticulum lumen and nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C9orf167

MANE transcript

NM_017723.3

Inheritance

—

ClinVar variants

U:72B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.15

Max pathogenic AF

—

Genomic locus

chr9:137,277,726-137,282,641

External References & Databases

Ensembl (ENSG00000198113)

Transcript & Mutation Effects

hg38 • Region Span ~4.9 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 TOR4A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 73

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_017723.3. 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			72 clinvar	3 clinvar		75
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	6	0	78

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_017723.3	RefSeq	NP_060193.2	1	MANE Select
ENST00000357503.3	Ensembl	ENSP00000350102.2	1	MANE Select
ENST00000919145.1	Ensembl	ENSP00000589204.1	1	Standard
ENST00000919145.2	Ensembl	ENSP00000589204.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Platelet degranulation
Response to elevated platelet cytosolic Ca2+
Platelet activation, signaling and aggregation
Hemostasis

Biological Process

platelet degranulation

Molecular Function

ATP binding

Cellular Component

extracellular region
integral component of membrane
platelet alpha granule lumen

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000357503
Coding exons: 1
Length: 4893
Individuals with no LoFs: 120486
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 120488
p: 0.00000830

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.92	159	302	0.527	0.0000256	2577
Missense (PolyPhen)		32	79.914	0.40043		701
Synonymous	1.49	131	155	0.848	0.0000140	961
Loss of Function	2.04	1	6.68	0.150	3.14e-7	75

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)	0.000020	0.000019	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.121

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): K

Gene Damage Prediction

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