POTEI

protein-coding

POTE ankyrin domain family member I, 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 extracellular exosome and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001277406.2

Inheritance

—

ClinVar variants

U:2B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.41

Max pathogenic AF

—

Genomic locus

chr2:130,459,455-130,509,707

External References & Databases

Ensembl (ENSG00000196834)

Transcript & Mutation Effects

hg38 • Region Span ~50.3 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 POTEI variants in ClinVar

1 Conditions Cataloged

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001277406.2. 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				1 clinvar		1
missense				2 clinvar		2
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	2	3	0	5

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_001277406.2	RefSeq	NP_001264335.1	15	MANE Select
ENST00000451531.7	Ensembl	ENSP00000392718.2	15	MANE Select
NM_001371926.1	RefSeq	NP_001358855.1	16	Standard
ENST00000631234.1	Ensembl	ENSP00000486532.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

retina homeostasis

Molecular Function

molecular_function

Cellular Component

extracellular space
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000451531
Coding exons: 15
Length: 50212
Individuals with no LoFs: 125340
Homozygous LoFs: 6
Heterozygous LoFs: 262
Defined: 125608
p: 0.00107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-2.66	337	225	1.50	0.0000130	6996
Missense (PolyPhen)		113	66.02	1.7116		1685
Synonymous	-3.59	129	86.5	1.49	0.00000581	1882
Loss of Function	-1.06	11	7.79	1.41	3.89e-7	423

Population LoF Frequency

Population	CAF	p-value	Status
African	0.013	0.011	notable
Latino/Admixed American	0.00078	0.00061	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00034	0.00022	rare
Finnish	0.0012	0.0012	notable
European (Non-Finnish)	0.00027	0.00026	rare
South Asian	0.000066	0.000065	rare
Other	0.0014	0.0011	notable

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