POTEF

protein-coding

POTE ankyrin domain family member F, the group of POTE ankyrin domain containing

Gene summary

Predicted to enable protein kinase binding activity. Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Predicted to be involved in axonogenesis and cell motility. Located in blood microparticle; extracellular exosome; and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

A26C1B

MANE transcript

NM_001099771.2

Inheritance

—

ClinVar variants

U:1B:6

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 0.61

Max pathogenic AF

—

Genomic locus

chr2:130,073,535-130,129,222

External References & Databases

Ensembl (ENSG00000196604)

Transcript & Mutation Effects

hg38 • Region Span ~55.7 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 POTEF variants in ClinVar

2 Conditions Cataloged

not providedTotal: 5

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001099771.2. 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				4 clinvar	1 clinvar	5
missense			1 clinvar	1 clinvar		2
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	1	5	1	7

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001099771.2	RefSeq	NP_001093241.1	15	MANE Select
ENST00000409914.7	Ensembl	ENSP00000386786.2	15	MANE Select
ENST00000361163.8	Ensembl	ENSP00000355012.6	7	Standard
ENST00001073513.1	Ensembl	ENSP00000743319.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

retina homeostasis

Cellular Component

extracellular space
cell cortex
extracellular exosome
blood microparticle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000357462
Coding exons: 15
Length: 55688
Individuals with no LoFs: 124598
Homozygous LoFs: 0
Heterozygous LoFs: 39
Defined: 124637
p: 0.000156

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-2.74	580	422	1.38	0.0000239	7065
Missense (PolyPhen)		253	191.07	1.3242		3065
Synonymous	-3.19	216	164	1.32	0.0000108	1888
Loss of Function	1.53	11	18.0	0.612	8.32e-7	432

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0012	0.0012	notable
Latino/Admixed American	0.00032	0.00032	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000073	0.000071	rare
South Asian	0.000033	0.000033	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Indispensability pred.: E
Indispensability score: 0.539

Gene Damage Prediction

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