FIGN

protein-coding

fidgetin, microtubule severing factor, the group of AAA ATPases

Gene summary

Predicted to enable ATP hydrolysis activity and microtubule severing ATPase activity. Predicted to be involved in microtubule severing. Predicted to be located in nuclear matrix. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_018086.4

Inheritance

—

ClinVar variants

U:98B:3

Top phenotype

Developmental disorder

gnomAD constraint

pLI —, LoF o/e 0.09

Max pathogenic AF

—

Genomic locus

chr2:163,593,396-163,736,012

External References & Databases

Ensembl (ENSG00000182263)

Transcript & Mutation Effects

hg38 • Region Span ~142.6 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 FIGN variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 94

not providedTotal: 5

Developmental disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018086.4. 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				3 clinvar		3
missense			95 clinvar			95
nonsense						0
start loss						0
frameshift			3 clinvar			3
splice donor/acceptor (+/-2bp)						0
Total	0	0	98	3	0	101

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018086.4	RefSeq	NP_060556.2	2	MANE Select
ENST00000333129.4	Ensembl	ENSP00000333836.3	2	MANE Select
NM_001321825.2	RefSeq	NP_001308754.1	1	Standard
ENST00000409634.5	Ensembl	ENSP00000386768.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cell cycle
regulation of double-strand break repair via homologous recombination
cytoplasmic microtubule organization
microtubule severing
cell division

Molecular Function

ATP binding
protein C-terminus binding
microtubule-severing ATPase activity
ATPase activity

Cellular Component

nucleus
cytoplasm
microtubule organizing center
microtubule
nuclear matrix

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000333129
Coding exons: 2
Length: 142617
Individuals with no LoFs: 124702
Homozygous LoFs: 0
Heterozygous LoFs: 3
Defined: 124705
p: 0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.16	358	425	0.842	0.0000240	4919
Missense (PolyPhen)		97	136.08	0.71283		1576
Synonymous	-2.33	209	170	1.23	0.0000108	1579
Loss of Function	4.00	2	22.4	0.0891	0.00000116	288

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000065	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000089	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: ATP-dependent microtubule severing protein. Severs microtubules along their length and depolymerizes their ends, primarily the minus-end, that may lead to the suppression of microtubule growth from and attachment to centrosomes. Microtubule severing may promote rapid reorganization of cellular microtubule arrays and the release of microtubules from the centrosome following nucleation. Microtubule release from the mitotic spindle poles may allow depolymerization of the microtubule end proximal to the spindle pole, leading to poleward microtubule flux and poleward motion of chromosome. {ECO:0000269|PubMed:22672901}.;

Recessive Scores

pRec: 0.118

Intolerance Scores

LoFtool: 0.0659
RVIS EVS: -1.02
RVIS percentile EVS: 8

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.167

Gene Damage Prediction

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