POTEI

Summary

POTEI (POTE ankyrin domain family member I, HGNC:37093) is a protein-coding gene on chromosome 2q21.1, encoding POTE ankyrin domain family member I (P0CG38). It is a selective cancer dependency (DepMap: 27.7% of cell lines).

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.

Source: NCBI Gene 653269 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 5 total
• Cancer dependency (DepMap): dependent in 27.7% of screened cell lines
• MANE Select transcript: NM_001277406

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37093
Approved symbol	POTEI
Name	POTE ankyrin domain family member I
Location	2q21.1
Locus type	gene with protein product
Status	Approved
Aliases	POTE2beta
Ensembl gene	ENSG00000196834
Ensembl biotype	protein_coding
Entrez	653269

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay

ENST00000451531, ENST00000631234, ENST00000652235

RefSeq mRNA: 2 — MANE Select: NM_001277406 NM_001277406, NM_001371926

CCDS: CCDS59431

Canonical transcript exons

ENST00000451531 — 15 exons

Exon	Start	End
ENSE00001612529	130459455	130464144
ENSE00002438123	130489235	130489279
ENSE00002443263	130474907	130474951
ENSE00002447589	130496552	130496622
ENSE00002449957	130499084	130499221
ENSE00002450855	130474378	130474559
ENSE00002494312	130482003	130482073
ENSE00002498149	130500536	130500642
ENSE00002500991	130465652	130465772
ENSE00002507185	130503780	130503894
ENSE00002513545	130503446	130503619
ENSE00002522317	130490670	130490740
ENSE00002524250	130476631	130476701
ENSE00002536633	130488032	130488198
ENSE00003845091	130508715	130509328

Expression profiles

Bgee: expression breadth broad, 32 present calls, max score 88.29.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.29	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.30	silver quality
testis	UBERON:0000473	64.75	gold quality
left testis	UBERON:0004533	61.82	gold quality
right testis	UBERON:0004534	60.89	gold quality
prostate gland	UBERON:0002367	58.22	gold quality
right atrium auricular region	UBERON:0006631	51.50	gold quality
islet of Langerhans	UBERON:0000006	50.81	gold quality
stromal cell of endometrium	CL:0002255	50.71	silver quality
colonic epithelium	UBERON:0000397	50.00	gold quality
placenta	UBERON:0001987	49.87	gold quality
right uterine tube	UBERON:0001302	49.69	gold quality
sural nerve	UBERON:0015488	48.56	gold quality
adenohypophysis	UBERON:0002196	44.66	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	44.55	silver quality
fundus of stomach	UBERON:0001160	44.23	gold quality
pancreas	UBERON:0001264	44.12	gold quality
pituitary gland	UBERON:0000007	43.67	gold quality
body of stomach	UBERON:0001161	43.55	gold quality
apex of heart	UBERON:0002098	43.39	silver quality
stomach	UBERON:0000945	43.33	gold quality
heart	UBERON:0000948	42.70	gold quality
monocyte	CL:0000576	42.04	silver quality
leukocyte	CL:0000738	41.37	silver quality
fallopian tube	UBERON:0003889	40.39	silver quality
muscle tissue	UBERON:0002385	40.06	gold quality
bone marrow cell	CL:0002092	39.98	gold quality
ventricular zone	UBERON:0003053	39.90	gold quality
cortical plate	UBERON:0005343	39.78	gold quality
lymph node	UBERON:0000029	39.51	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	20.37

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 27.7% of screened cell lines.

Cross-species orthologs

0 orthologs

Paralogs (16): BCL3 (ENSG00000069399), NFKBIE (ENSG00000146232), POTED (ENSG00000166351), POTEC (ENSG00000183206), POTEG (ENSG00000187537), POTEE (ENSG00000188219), POTEA (ENSG00000188877), POTEF (ENSG00000196604), POTEH (ENSG00000198062), POTEM (ENSG00000222036), POTEJ (ENSG00000222038), POTEB2 (ENSG00000230031), POTEB (ENSG00000233917), (ENSG00000276760), (ENSG00000277630), POTEB3 (ENSG00000278522)

Protein

Protein identifiers

POTE ankyrin domain family member I — P0CG38 (reviewed: P0CG38)

All UniProt accessions (3): P0CG38, A0A0D9SFE8, A0A494C1H2

UniProt curated annotations — full annotation on UniProt →

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

RefSeq proteins (2): NP_001264335, NP_001358855 (=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 (16 total): repeat 5, compositionally biased region 5, 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-P0CG38-F1	70.91	0.45

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 40 (showing top): GOBP_NEUROGENESIS, GOBP_CELL_JUNCTION_ORGANIZATION, GOCC_NEURON_PROJECTION, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_H4_HISTONE_ACETYLTRANSFERASE_COMPLEX, GOCC_TRANSFERASE_COMPLEX, 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, GOBP_POSTSYNAPTIC_CYTOSKELETON_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 (9): obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737), actin filament (GO:0005884), actin cytoskeleton (GO:0015629), membrane (GO:0016020), axon (GO:0030424), NuA4 histone acetyltransferase complex (GO:0035267), synapse (GO:0045202), extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
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
cytoskeleton	1
neuron projection	1
H4/H2A histone acetyltransferase complex	1
cell junction	1
extracellular vesicle	1

Protein interactions and networks

STRING

1876 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POTEI	NMT1	P30419	490
POTEI	A0A096LNW4	A0A096LNW4	473
POTEI	AGAP4	Q96P64	403
POTEI	OPRPN	P85047	402
POTEI	CCDC183	Q5T5S1	396
POTEI	PPP1R37	O75864	374
POTEI	A0A087WTP8	A0A087WTP8	356
POTEI	SSUH2	Q9Y2M2	356
POTEI	ZNF418	Q8TF45	352
POTEI	PRR4	Q16378	348
POTEI	LRTM3	Q8NDH2	348
POTEI	MDN1	Q9NU22	328
POTEI	RELCH	Q9P260	323
POTEI	H3BVE0	H3BVE0	297
POTEI	MINDY4	Q4G0A6	296

IntAct

115 interactions, top by confidence:

A	B	Type	Score
SMNDC1	SF3B1	psi-mi:“MI:0914”(association)	0.790
RNASE3	GGPS1	psi-mi:“MI:0914”(association)	0.640
BCL7A	ARID1A	psi-mi:“MI:0914”(association)	0.640
GC	POTEF	psi-mi:“MI:0914”(association)	0.530
EPB41L2	AP3B1	psi-mi:“MI:0914”(association)	0.530
TEX264	PER1	psi-mi:“MI:0914”(association)	0.530
CCDC22	ZWINT	psi-mi:“MI:0914”(association)	0.530
PHACTR2	POTEI	psi-mi:“MI:0914”(association)	0.530
CAP2	POTEI	psi-mi:“MI:0914”(association)	0.530
AFM	POTEI	psi-mi:“MI:0914”(association)	0.530
HADHB	POTEI	psi-mi:“MI:0914”(association)	0.530
GGT5	POTEI	psi-mi:“MI:0914”(association)	0.530
C20orf203	POTEI	psi-mi:“MI:0914”(association)	0.530
NUS1	POTEI	psi-mi:“MI:0914”(association)	0.530
AASDHPPT	POTEI	psi-mi:“MI:0914”(association)	0.530
NDUFA4L2	POTEI	psi-mi:“MI:0914”(association)	0.530
SLC25A11	POTEI	psi-mi:“MI:0914”(association)	0.530
CYP51A1	POTEI	psi-mi:“MI:0914”(association)	0.530

BioGRID (152): POTEI (Affinity Capture-MS), POTEI (Affinity Capture-MS), POTEI (Affinity Capture-MS), POTEI (Affinity Capture-MS), POTEI (Affinity Capture-MS), POTEI (Affinity Capture-MS), POTEI (Affinity Capture-MS), POTEI (Affinity Capture-MS), POTEI (Affinity Capture-MS), POTEI (Affinity Capture-MS), POTEI (Affinity Capture-MS), POTEI (Affinity Capture-MS), POTEI (Affinity Capture-MS), POTEI (Affinity Capture-MS), POTEI (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 130 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.

GO biological processes:

GO term	Partners	Fold	FDR
actin filament organization	9	9.1×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1731 predictions. Top by Δscore:

Variant	Effect	Δscore
2:130464145:C:CC	acceptor_gain	1.0000
2:130465773:C:CC	acceptor_gain	1.0000
2:130474372:GCTTA:G	donor_loss	1.0000
2:130474373:CTTAC:C	donor_loss	1.0000
2:130474375:TACCT:T	donor_loss	1.0000
2:130474376:A:AC	donor_gain	1.0000
2:130474377:C:CC	donor_gain	1.0000
2:130474377:CC:C	donor_loss	1.0000
2:130474556:CTAG:C	acceptor_gain	1.0000
2:130474557:TAG:T	acceptor_gain	1.0000
2:130474557:TAGC:T	acceptor_loss	1.0000
2:130474558:AG:A	acceptor_gain	1.0000
2:130474560:C:CC	acceptor_gain	1.0000
2:130474567:A:AC	acceptor_gain	1.0000
2:130474567:A:C	acceptor_gain	1.0000
2:130474570:C:CT	acceptor_gain	1.0000
2:130488026:GCTTA:G	donor_loss	1.0000
2:130488027:CTTA:C	donor_loss	1.0000
2:130488028:TTA:T	donor_loss	1.0000
2:130488029:TA:T	donor_loss	1.0000
2:130488030:A:AC	donor_gain	1.0000
2:130488030:A:T	donor_loss	1.0000
2:130488031:C:CC	donor_gain	1.0000
2:130488195:CAAC:C	acceptor_gain	1.0000
2:130488196:AACCT:A	acceptor_loss	1.0000
2:130488197:ACC:A	acceptor_loss	1.0000
2:130488198:CCT:C	acceptor_gain	1.0000
2:130488199:C:CC	acceptor_gain	1.0000
2:130488199:CTTGA:C	acceptor_loss	1.0000
2:130488200:T:C	acceptor_gain	1.0000

AlphaMissense

7222 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:130463563:G:C	F827L	0.995
2:130463563:G:T	F827L	0.995
2:130463565:A:G	F827L	0.995
2:130462926:A:G	W1040R	0.994
2:130462926:A:T	W1040R	0.994
2:130463572:A:C	F824L	0.994
2:130463572:A:T	F824L	0.994
2:130463574:A:G	F824L	0.994
2:130503880:A:G	L179P	0.993
2:130503449:G:C	N269K	0.989
2:130503449:G:T	N269K	0.989
2:130462860:A:C	Y1062D	0.988
2:130499168:A:G	L324P	0.988
2:130503483:A:G	L258P	0.988
2:130503619:C:G	A213P	0.988
2:130500548:T:A	D302V	0.987
2:130503550:C:G	D236H	0.987
2:130503579:A:G	L226P	0.987
2:130463564:A:G	F827S	0.986
2:130463688:A:G	W786R	0.986
2:130463688:A:T	W786R	0.986
2:130462859:T:G	Y1062S	0.985
2:130463881:A:C	F721L	0.985
2:130463881:A:T	F721L	0.985
2:130463883:A:G	F721L	0.985
2:130503550:C:A	D236Y	0.985
2:130503841:A:G	L192P	0.985
2:130463851:G:C	F731L	0.984
2:130463851:G:T	F731L	0.984
2:130463853:A:G	F731L	0.984

dbSNP variants (sampled 300 via entrez): RS1000323507 (2:130504565 T>C), RS1001043400 (2:130500974 C>T), RS1001199789 (2:130480518 T>A,C), RS1001432471 (2:130460171 G>A,T), RS1002229687 (2:130504755 T>A,C,G), RS1002341126 (2:130480008 T>A,C), RS1002874901 (2:130483717 C>G), RS1002900682 (2:130461421 C>G,T), RS1002970471 (2:130511341 C>A), RS1003209953 (2:130488573 T>C), RS1003278816 (2:130461101 A>C,T), RS1003648029 (2:130464700 C>A,T), RS1004030406 (2:130462195 T>C), RS1004097129 (2:130484095 T>C,G), RS1004228584 (2:130462597 T>C)

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

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
coumarin	increases phosphorylation	1
epigallocatechin gallate	decreases expression	1
2-palmitoylglycerol	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Caffeine	decreases expression	1
Copper	affects cotreatment, decreases expression	1
Dopamine	decreases expression	1
Oxygen	increases expression	1
Retinoids	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Cadmium Chloride	increases expression	1
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

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