POTEF

Summary

POTEF (POTE ankyrin domain family member F, HGNC:33905) is a protein-coding gene on chromosome 2q21.1, encoding POTE ankyrin domain family member F (A5A3E0).

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 and extracellular exosome.

Source: NCBI Gene 728378 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 10 total
• MANE Select transcript: NM_001099771

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33905
Approved symbol	POTEF
Name	POTE ankyrin domain family member F
Location	2q21.1
Locus type	gene with protein product
Status	Approved
Aliases	POTEACTIN, POTE2alpha
Ensembl gene	ENSG00000196604
Ensembl biotype	protein_coding
Entrez	728378

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000361163, ENST00000409914

RefSeq mRNA: 1 — MANE Select: NM_001099771 NM_001099771

CCDS: CCDS46409

Canonical transcript exons

ENST00000409914 — 17 exons

Exon	Start	End
ENSE00001578482	130119995	130120608
ENSE00001585881	130129072	130129222
ENSE00001587368	130127709	130127864
ENSE00002436094	130102110	130102180
ENSE00002441750	130110543	130110680
ENSE00002450268	130115214	130115328
ENSE00002461930	130073535	130075572
ENSE00002493137	130111995	130112101
ENSE00002518267	130108009	130108079
ENSE00002532042	130114881	130115054
ENSE00003486370	130100676	130100720
ENSE00003489293	130088067	130088137
ENSE00003490221	130085814	130085995
ENSE00003561745	130093438	130093508
ENSE00003576973	130099470	130099636
ENSE00003595209	130086343	130086387
ENSE00003681639	130077081	130077201

Expression profiles

Bgee: expression breadth broad, 23 present calls, max score 85.51.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1134 / max 29.4696, expressed in 26 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
30612	0.1134	26

Top tissues by expression

100 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.51	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.34	gold quality
testis	UBERON:0000473	56.02	gold quality
left testis	UBERON:0004533	53.65	gold quality
hindlimb stylopod muscle	UBERON:0004252	53.17	gold quality
right testis	UBERON:0004534	52.49	gold quality
skeletal muscle tissue	UBERON:0001134	51.35	silver quality
bone marrow cell	CL:0002092	50.35	gold quality
placenta	UBERON:0001987	49.11	gold quality
muscle tissue	UBERON:0002385	47.76	silver quality
ganglionic eminence	UBERON:0004023	42.97	silver quality
gastrocnemius	UBERON:0001388	41.92	silver quality
muscle of leg	UBERON:0001383	41.72	silver quality
stromal cell of endometrium	CL:0002255	41.65	silver quality
cortical plate	UBERON:0005343	41.40	gold quality
ventricular zone	UBERON:0003053	39.85	gold quality
bone marrow	UBERON:0002371	38.99	gold quality
smooth muscle tissue	UBERON:0001135	38.77	gold quality
tonsil	UBERON:0002372	38.75	gold quality
prostate gland	UBERON:0002367	38.72	gold quality
popliteal artery	UBERON:0002250	38.66	gold quality
tibial artery	UBERON:0007610	38.62	gold quality
vermiform appendix	UBERON:0001154	37.76	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
right coronary artery	UBERON:0001625	35.49	gold quality
fundus of stomach	UBERON:0001160	35.41	gold quality
apex of heart	UBERON:0002098	34.72	gold quality
mucosa of transverse colon	UBERON:0004991	34.49	gold quality
urinary bladder	UBERON:0001255	33.98	gold quality
monocyte	CL:0000576	33.22	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	20.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

62 targeting POTEF, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-4762-3P	99.43	69.72	2363
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-6510-5P	99.14	66.59	1081

Literature-anchored findings (GeneRIF, showing 3)

• POTE gene family encodes a new family of proapoptotic proteins. (PMID:19669888)
• The Role of Trp79 in beta-Actin on Histidine Methyltransferase SETD3 Catalysis. (PMID:37581408)
• beta-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination. (PMID:38315012)

Cross-species orthologs

0 orthologs

Paralogs (16): BCL3 (ENSG00000069399), NFKBIE (ENSG00000146232), POTED (ENSG00000166351), POTEC (ENSG00000183206), POTEG (ENSG00000187537), POTEE (ENSG00000188219), POTEA (ENSG00000188877), POTEI (ENSG00000196834), POTEH (ENSG00000198062), POTEM (ENSG00000222036), POTEJ (ENSG00000222038), POTEB2 (ENSG00000230031), POTEB (ENSG00000233917), (ENSG00000276760), (ENSG00000277630), POTEB3 (ENSG00000278522)

Protein

Protein identifiers

POTE ankyrin domain family member F — A5A3E0 (reviewed: A5A3E0)

Alternative names: ANKRD26-like family C member 1B, Chimeric POTE-actin protein

All UniProt accessions (2): A5A3E0, A6NC16

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm. Cell cortex.

Tissue specificity. Expressed in breast cancer cell lines (at protein level).

Miscellaneous. Results from the insertion of a beta-actin fragment at the C-terminus in the POTEE paralog gene leading to the formation of a new functional chimeric protein. This insertion occured before the divergence of the Old World monkeys and apes.

Similarity. In the N-terminal section; belongs to the POTE family. In the C-terminal section; belongs to the actin family.

RefSeq proteins (1): NP_001093241* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR004000	Actin	Family
IPR004001	Actin_CS	Conserved_site
IPR020902	Actin/actin-like_CS	Conserved_site
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR039497	CC144C-like_CC_dom	Domain
IPR043129	ATPase_NBD	Homologous_superfamily

Pfam: PF00022, PF12796, PF14915

UniProt features (19 total): repeat 5, compositionally biased region 5, sequence conflict 3, region of interest 3, coiled-coil region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A5A3E0-F1	71.02	0.46

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 56 (showing top): GOBP_NEUROGENESIS, GOBP_CELL_JUNCTION_ORGANIZATION, GOCC_NEURON_PROJECTION, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_H4_HISTONE_ACETYLTRANSFERASE_COMPLEX, GOCC_TRANSFERASE_COMPLEX, GOCC_BLOOD_MICROPARTICLE, GOCC_SYNAPSE, GOCC_AXON, GOMF_KINASE_BINDING, GOMF_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, GOBP_SYNAPSE_ORGANIZATION, GOBP_AXON_DEVELOPMENT, GOBP_POSTSYNAPSE_ORGANIZATION

GO Biological Process (3): axonogenesis (GO:0007409), cell motility (GO:0048870), postsynaptic actin cytoskeleton organization (GO:0098974)

GO Molecular Function (3): protein kinase binding (GO:0019901), structural constituent of postsynaptic actin cytoskeleton (GO:0098973), protein binding (GO:0005515)

GO Cellular Component (11): obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), actin filament (GO:0005884), cell cortex (GO:0005938), actin cytoskeleton (GO:0015629), membrane (GO:0016020), axon (GO:0030424), NuA4 histone acetyltransferase complex (GO:0035267), synapse (GO:0045202), extracellular exosome (GO:0070062), blood microparticle (GO:0072562)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cell morphogenesis involved in neuron differentiation	1
neuron projection morphogenesis	1
axon development	1
cellular process	1
actin cytoskeleton organization	1
postsynaptic cytoskeleton organization	1
kinase binding	1
structural constituent of cytoskeleton	1
postsynaptic actin cytoskeleton	1
postsynaptic actin cytoskeleton organization	1
structural constituent of postsynapse	1
binding	1
intracellular anatomical structure	1
actin cytoskeleton	1
polymeric cytoskeletal fiber	1
cytoplasm	1
cell periphery	1
cytoskeleton	1
neuron projection	1
H4/H2A histone acetyltransferase complex	1
cell junction	1
extracellular vesicle	1
extracellular region	1

Protein interactions and networks

STRING

6621 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POTEF	GAPDH	P00354	858
POTEF	ACTL6A	O96019	853
POTEF	RPLP0	P05388	829
POTEF	B2M	P01884	784
POTEF	DYNLL1	P63167	779
POTEF	EZR	P15311	756
POTEF	TUBB	P05218	745
POTEF	TUBB2A	Q13885	740
POTEF	TBP	P20226	737
POTEF	YWHAB	P31946	735
POTEF	HSPA9	P30036	730
POTEF	RPL13A	P40429	720
POTEF	GUSB	P08236	718
POTEF	HPRT1	P00492	710
POTEF	HSP90AB1	P08238	708

IntAct

257 interactions, top by confidence:

A	B	Type	Score
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
TYW5	POTEF	psi-mi:“MI:0915”(physical association)	0.590
MAPK13	POTEF	psi-mi:“MI:0915”(physical association)	0.590
AHSG	POTEF	psi-mi:“MI:0915”(physical association)	0.590
UROD	POTEF	psi-mi:“MI:0915”(physical association)	0.590
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
ADA	POTEF	psi-mi:“MI:0914”(association)	0.560
ADA	POTEF	psi-mi:“MI:0915”(physical association)	0.560
TUBB3	POTEF	psi-mi:“MI:0914”(association)	0.530
POTEC	POTEF	psi-mi:“MI:0914”(association)	0.530
GC	POTEF	psi-mi:“MI:0914”(association)	0.530
FCN1	POTEF	psi-mi:“MI:0914”(association)	0.530
AKR1B10	POTEF	psi-mi:“MI:0914”(association)	0.530
CACNG3	POTEF	psi-mi:“MI:0914”(association)	0.530
CER1	POTEF	psi-mi:“MI:0914”(association)	0.530
MAS1	POTEF	psi-mi:“MI:0914”(association)	0.530
HLA-DQB2	POTEF	psi-mi:“MI:0914”(association)	0.530
CELA3A	POTEF	psi-mi:“MI:0914”(association)	0.530
TKT	POTEF	psi-mi:“MI:0914”(association)	0.530
MAGEA10	POTEF	psi-mi:“MI:0914”(association)	0.530
CSNK1E	POTEF	psi-mi:“MI:0914”(association)	0.530
GALK2	POTEF	psi-mi:“MI:0914”(association)	0.530
DMC1	POTEF	psi-mi:“MI:0914”(association)	0.530
USH1G	POTEF	psi-mi:“MI:0914”(association)	0.530
ACTBL2	POTEF	psi-mi:“MI:0914”(association)	0.530

BioGRID (318): POTEF (Affinity Capture-MS), POTEF (Affinity Capture-MS), POTEF (Affinity Capture-MS), POTEF (Affinity Capture-MS), POTEF (Affinity Capture-MS), POTEF (Affinity Capture-MS), POTEF (Affinity Capture-MS), POTEF (Affinity Capture-MS), POTEF (Affinity Capture-MS), POTEF (Affinity Capture-MS), POTEF (Affinity Capture-MS), POTEF (Affinity Capture-MS), POTEF (Affinity Capture-MS), POTEF (Affinity Capture-MS), POTEF (Affinity Capture-MS)

ESM2 similar proteins: A0A072TK64, A0A072ULZ1, A0A6P8HC43, A2PYL6, A2PYL7, A2PYL8, A2XE45, A2XEA0, A2Y6J9, A5A3E0, B5DUH6, E9Q0N2, F4HWL4, F4JCB2, O04309, O08528, O24521, O95744, P0CG38, P0CG39, P25071, P27881, P28316, P29127, P35753, P37842, P52789, Q1W674, Q29428, Q6S8J3, Q70SU7, Q70SU8, Q75II4, Q84JE8, Q8L727, Q8LRK8, Q8RXK2, Q8VC49, Q90WJ7, Q93Y92

Diamond homologs: A0A0A6YYL3, A0JP26, A0PJZ0, A2A2Z9, A2RUR9, A5A3E0, A6NC57, A6NI47, A7E2S9, B2RU33, H3BUK9, P0CG38, P0CG39, Q3MJ40, Q4R3S3, Q4UJ75, Q5CZ79, Q5JPF3, Q5SQ80, Q5TYW2, Q5VUR7, Q6NSI1, Q6S545, Q6S5H5, Q6S8J3, Q6S8J7, Q811D2, Q86YR6, Q8IYA2, Q92527, Q9BXX2, Q9BXX3, Q9D504, Q9H560, Q9UPS8, Q8IVF6, A6QL64, Q8N2N9, Q8NF67, Q96IX9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 154 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	6	48.1×	2e-07
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	42.4×	3e-07
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	42.4×	3e-07
Activation of BH3-only proteins	6	31.4×	2e-06
Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	5	28.6×	2e-05
Transport of connexons to the plasma membrane	5	28.6×	2e-05
Gap junction trafficking and regulation	5	25.0×	3e-05
Gap junction trafficking	5	25.0×	3e-05

GO biological processes:

GO term	Partners	Fold	FDR
intracellular protein localization	10	7.9×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

10 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1797 predictions. Top by Δscore:

Variant	Effect	Δscore
2:130075568:GAAAG:G	acceptor_gain	1.0000
2:130075569:AAAG:A	acceptor_gain	1.0000
2:130075571:AG:A	acceptor_gain	1.0000
2:130075573:C:CC	acceptor_gain	1.0000
2:130075574:T:C	acceptor_loss	1.0000
2:130077202:C:CC	acceptor_gain	1.0000
2:130085808:GCTTA:G	donor_loss	1.0000
2:130085812:A:AC	donor_gain	1.0000
2:130085813:C:CC	donor_gain	1.0000
2:130085992:CTAG:C	acceptor_gain	1.0000
2:130085993:TAG:T	acceptor_gain	1.0000
2:130085994:AG:A	acceptor_gain	1.0000
2:130085996:C:CC	acceptor_gain	1.0000
2:130086003:A:AC	acceptor_gain	1.0000
2:130086003:A:C	acceptor_gain	1.0000
2:130086006:C:CT	acceptor_gain	1.0000
2:130093507:TT:T	acceptor_gain	1.0000
2:130093509:C:CC	acceptor_gain	1.0000
2:130093511:A:C	acceptor_gain	1.0000
2:130099464:GCTTA:G	donor_loss	1.0000
2:130099465:CTTAC:C	donor_loss	1.0000
2:130099466:TTACC:T	donor_loss	1.0000
2:130099467:TAC:T	donor_loss	1.0000
2:130099468:A:AC	donor_gain	1.0000
2:130099468:A:C	donor_loss	1.0000
2:130099469:C:CC	donor_gain	1.0000
2:130099633:CAAC:C	acceptor_gain	1.0000
2:130099634:AACCT:A	acceptor_loss	1.0000
2:130099636:CC:C	acceptor_loss	1.0000
2:130099636:CCT:C	acceptor_gain	1.0000

AlphaMissense

7225 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:130075000:A:C	F824L	0.995
2:130075000:A:T	F824L	0.995
2:130075002:A:G	F824L	0.995
2:130074991:G:C	F827L	0.994
2:130074991:G:T	F827L	0.994
2:130074993:A:G	F827L	0.994
2:130074288:A:C	Y1062D	0.990
2:130114918:A:G	L258P	0.990
2:130074287:T:G	Y1062S	0.986
2:130074316:G:C	F1052L	0.986
2:130074316:G:T	F1052L	0.986
2:130074318:A:G	F1052L	0.986
2:130075102:G:C	F790L	0.984
2:130075102:G:T	F790L	0.984
2:130075104:A:G	F790L	0.984
2:130115275:A:G	L192P	0.984
2:130115314:A:G	L179P	0.983
2:130074288:A:G	Y1062H	0.981
2:130110627:A:G	L324P	0.981
2:130115014:A:G	L226P	0.981
2:130110664:C:G	A312P	0.980
2:130112007:T:A	D302V	0.980
2:130074354:A:G	W1040R	0.979
2:130074354:A:T	W1040R	0.979
2:130075001:A:G	F824S	0.979
2:130075116:A:G	W786R	0.979
2:130075116:A:T	W786R	0.979
2:130114915:A:G	L259P	0.979
2:130074992:A:G	F827S	0.978
2:130112079:A:G	L278P	0.978

dbSNP variants (sampled 300 via entrez): RS1000077081 (2:130121778 T>C), RS1000204641 (2:130102473 C>T), RS1000337861 (2:130108935 G>A), RS1000554400 (2:130122260 TATAA>T), RS1000770102 (2:130110523 C>T), RS1000790688 (2:130109289 T>C), RS1000818550 (2:130103448 G>A,C), RS1000945623 (2:130129053 A>G), RS1001076804 (2:130110211 C>T), RS1001127775 (2:130109333 T>C), RS1001219288 (2:130109581 T>C), RS1002057895 (2:130104259 T>C), RS1002125563 (2:130102934 T>C), RS1002288049 (2:130122368 G>A), RS1002319368 (2:130122817 C>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	affects phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
evodiamine	increases expression	1
ICG 001	decreases expression	1
licochalcone B	decreases expression	1
bisphenol S	decreases methylation	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
nabiximols	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Dexamethasone	affects cotreatment, decreases expression	1
Dopamine	increases expression	1
Doxorubicin	decreases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Methotrexate	decreases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Valproic Acid	decreases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
Cadmium Chloride	increases expression	1
1-Butanol	affects cotreatment, increases abundance, increases expression	1
Acrylamide	decreases expression	1
Particulate Matter	affects cotreatment, increases abundance, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.