POTEG

Summary

POTEG (POTE ankyrin domain family member G, HGNC:33896) is a protein-coding gene on chromosome 14q11.2, encoding POTE ankyrin domain family member G (Q6S5H5). It is a selective cancer dependency (DepMap: 76.8% of cell lines).

At a glance

• Clinical variants (ClinVar): 79 total
• Cancer dependency (DepMap): dependent in 76.8% of screened cell lines
• MANE Select transcript: NM_001005356

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33896
Approved symbol	POTEG
Name	POTE ankyrin domain family member G
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Aliases	POTE14, POTE-14, POTE14alpha, CT104.4
Ensembl gene	ENSG00000187537
Ensembl biotype	protein_coding
OMIM	608916
Entrez	404785

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 nonsense_mediated_decay, 1 protein_coding

ENST00000547722, ENST00000547848, ENST00000622767

RefSeq mRNA: 1 — MANE Select: NM_001005356 NM_001005356

CCDS: CCDS73610

Canonical transcript exons

ENST00000547848 — 11 exons

Exon	Start	End
ENSE00001658503	19428542	19428715
ENSE00001664308	19428875	19428989
ENSE00002481294	19433769	19434341
ENSE00003564343	19424165	19424302
ENSE00003579123	19414562	19414606
ENSE00003584700	19413354	19413520
ENSE00003596389	19404617	19404735
ENSE00003597906	19416288	19416358
ENSE00003627052	19421624	19421694
ENSE00003649722	19425606	19425712
ENSE00003733185	19402486	19403109

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 81.43.

Top tissues by expression

115 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	81.43	gold quality
prostate gland	UBERON:0002367	58.41	gold quality
testis	UBERON:0000473	54.23	gold quality
right testis	UBERON:0004534	52.65	gold quality
left testis	UBERON:0004533	52.49	gold quality
bone marrow cell	CL:0002092	42.76	gold quality
colonic epithelium	UBERON:0000397	41.29	gold quality
skeletal muscle tissue	UBERON:0001134	40.66	gold quality
ganglionic eminence	UBERON:0004023	38.92	gold quality
muscle tissue	UBERON:0002385	38.68	gold quality
gastrocnemius	UBERON:0001388	37.82	silver quality
apex of heart	UBERON:0002098	37.26	silver quality
muscle of leg	UBERON:0001383	36.83	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
tonsil	UBERON:0002372	35.70	gold quality
bone marrow	UBERON:0002371	35.11	gold quality
blood	UBERON:0000178	33.33	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
lymph node	UBERON:0000029	30.18	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
leukocyte	CL:0000738	29.57	gold quality
placenta	UBERON:0001987	29.47	gold quality
vermiform appendix	UBERON:0001154	29.29	gold quality
monocyte	CL:0000576	29.23	gold quality
prefrontal cortex	UBERON:0000451	29.20	gold quality
urinary bladder	UBERON:0001255	28.19	gold quality
duodenum	UBERON:0002114	28.14	gold quality
heart left ventricle	UBERON:0002084	27.41	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting POTEG, 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-3692-3P	99.98	70.27	2139
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-6758-3P	99.57	67.55	1078
HSA-MIR-6797-3P	99.17	66.94	668
HSA-MIR-382-3P	98.83	67.10	1074
HSA-MIR-760	98.81	66.65	1392
HSA-MIR-548Q	98.71	65.35	563
HSA-MIR-4710	98.61	65.96	1048
HSA-MIR-6076	98.61	65.69	637
HSA-MIR-4691-5P	98.41	66.77	1343
HSA-MIR-6792-3P	98.41	66.86	1359
HSA-MIR-3670	97.88	64.39	763
HSA-MIR-7855-5P	97.39	67.18	925

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 76.8% of screened cell lines.

Cross-species orthologs

0 orthologs

Paralogs (16): BCL3 (ENSG00000069399), NFKBIE (ENSG00000146232), POTED (ENSG00000166351), POTEC (ENSG00000183206), POTEE (ENSG00000188219), POTEA (ENSG00000188877), POTEF (ENSG00000196604), POTEI (ENSG00000196834), POTEH (ENSG00000198062), POTEM (ENSG00000222036), POTEJ (ENSG00000222038), POTEB2 (ENSG00000230031), POTEB (ENSG00000233917), (ENSG00000276760), (ENSG00000277630), POTEB3 (ENSG00000278522)

Protein

Protein identifiers

POTE ankyrin domain family member G — Q6S5H5 (reviewed: Q6S5H5)

Alternative names: ANKRD26-like family C member 2, Prostate, ovary, testis-expressed protein on chromosome 14

All UniProt accessions (1): Q6S5H5

UniProt curated annotations — full annotation on UniProt →

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the POTE family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6S5H5-3	3, POTE14A	yes
Q6S5H5-2	2, POTE14C
Q6S5H5-4	1, POTE14B

RefSeq proteins (1): NP_001005356* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR050657

Pfam: PF12796

UniProt features (23 total): sequence conflict 10, repeat 5, compositionally biased region 4, splice variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6S5H5-F1	65.66	0.39

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 8 (showing top): WEBER_METHYLATED_HCP_IN_SPERM_UP, WEBER_METHYLATED_HCP_IN_FIBROBLAST_DN, GSE13522_WT_VS_IFNG_KO_SKIN_DN, MIR760, GSE7596_AKT_TRANSD_VS_CTRL_CD4_TCONV_WITH_TGFB_DN, FONG_MCMASTER_OPA1_CARDIOPROTECTION_UP, GSE7218_UNSTIM_VS_ANTIGEN_STIM_THROUGH_IGM_BCELL_DN, chr14q11

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

1297 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POTEG	OR4M1	Q8NGD0	419
POTEG	OR11H12	B2RN74	399
POTEG	OR11H1	Q8NG94	350
POTEG	OR4Q3	Q8NH05	350
POTEG	IQCF2	Q8IXL9	349
POTEG	TPTE2	Q6XPS3	313
POTEG	ANK1	P16157	290
POTEG	ANK2	Q01484	288
POTEG	ANK3	Q12955	286
POTEG	RBM11	P57052	284
POTEG	PGA4	P00790	269
POTEG	ACTBL2	Q562R1	255
POTEG	HSPA13	P48723	245
POTEG	TPTE	P56180	232
POTEG	SRP14	P37108	222

IntAct

2 interactions, top by confidence:

A	B	Type	Score
POTEG	POTEF	psi-mi:“MI:0914”(association)	0.350

BioGRID (11): POTEG (Positive Genetic), POTEA (Affinity Capture-MS), KLHDC10 (Affinity Capture-MS), POTEF (Affinity Capture-MS), AP1G1 (Affinity Capture-MS), AP1S2 (Affinity Capture-MS), POTEC (Affinity Capture-MS), CUL2 (Affinity Capture-MS), POTEH (Affinity Capture-MS), SCML2 (Affinity Capture-MS), USP7 (Affinity Capture-MS)

ESM2 similar proteins: A0A0A6YYL3, A0JP26, A2A2Z9, A2RUR9, A6NC57, A6NI47, A6QR20, A8MYB1, A9JSR5, A9ZSY0, B2RU33, B7ZQJ9, F1M5M3, H3BUK9, O15050, P51954, P98182, Q19UN5, Q4UJ75, Q501X2, Q5CZ79, Q5DW34, Q5SQ80, Q5TYW2, Q5VUR7, Q66HB6, Q6NSI1, Q6S545, Q6S5H5, Q6S8J7, Q71S21, Q7TPV2, Q7TSC3, Q7ZT11, Q80X59, Q811D2, Q86Y13, Q86YR6, Q8IVF6, Q8IYA2

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.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	12
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1304 predictions. Top by Δscore:

Variant	Effect	Δscore
14:19404613:ATAC:A	donor_loss	1.0000
14:19404614:TA:T	donor_loss	1.0000
14:19404616:C:CT	donor_loss	1.0000
14:19404618:T:TA	donor_gain	1.0000
14:19404731:CATCA:C	acceptor_gain	1.0000
14:19404732:ATCA:A	acceptor_gain	1.0000
14:19404733:TCA:T	acceptor_gain	1.0000
14:19404734:CA:C	acceptor_gain	1.0000
14:19404734:CAC:C	acceptor_gain	1.0000
14:19404734:CACTA:C	acceptor_loss	1.0000
14:19404736:C:CC	acceptor_gain	1.0000
14:19404737:T:C	acceptor_loss	1.0000
14:19413350:TTA:T	donor_loss	1.0000
14:19413351:TAC:T	donor_loss	1.0000
14:19413352:A:AC	donor_gain	1.0000
14:19413352:AC:A	donor_gain	1.0000
14:19413353:C:A	donor_loss	1.0000
14:19413353:C:CA	donor_gain	1.0000
14:19413353:CC:C	donor_gain	1.0000
14:19413353:CCT:C	donor_gain	1.0000
14:19413353:CCTG:C	donor_gain	1.0000
14:19413517:CAAC:C	acceptor_gain	1.0000
14:19413520:CCTTG:C	acceptor_loss	1.0000
14:19413521:C:CC	acceptor_gain	1.0000
14:19413521:CTTG:C	acceptor_loss	1.0000
14:19413522:T:C	acceptor_gain	1.0000
14:19413526:A:AC	acceptor_gain	1.0000
14:19413526:A:C	acceptor_gain	1.0000
14:19416309:T:TA	donor_gain	1.0000
14:19424159:ACTTA:A	donor_loss	1.0000

AlphaMissense

3411 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:19428715:C:G	A213P	0.972
14:19433782:C:G	D170H	0.970
14:19428903:T:A	D203V	0.965
14:19428989:C:A	R174S	0.961
14:19428989:C:G	R174S	0.961
14:19433850:G:T	A147D	0.955
14:19428975:A:G	L179P	0.954
14:19428678:A:G	L225S	0.952
14:19428902:G:C	D203E	0.946
14:19428902:G:T	D203E	0.946
14:19428904:C:G	D203H	0.946
14:19428545:G:C	N269K	0.944
14:19428545:G:T	N269K	0.944
14:19428972:G:T	A180D	0.944
14:19428973:C:G	A180P	0.944
14:19433781:T:G	D170A	0.941
14:19428903:T:G	D203A	0.940
14:19433780:G:C	D170E	0.939
14:19433780:G:T	D170E	0.939
14:19425653:G:C	F290L	0.938
14:19425653:G:T	F290L	0.938
14:19425655:A:G	F290L	0.938
14:19424286:C:G	A312P	0.937
14:19428967:C:G	A182P	0.936
14:19433781:T:A	D170V	0.935
14:19428579:A:G	L258P	0.934
14:19428646:C:G	D236H	0.933
14:19428984:G:T	A176D	0.933
14:19428904:C:A	D203Y	0.929
14:19425651:A:G	L291S	0.928

dbSNP variants (sampled 300 via entrez): RS1000497414 (14:19405484 A>T), RS1001383562 (14:19423594 T>A,G), RS1001427030 (14:19433520 A>C), RS1001670824 (14:19415937 C>A,T), RS1004555711 (14:19417609 A>G,T), RS1004949272 (14:19424966 A>G), RS1014090523 (14:19415168 A>G), RS1014097270 (14:19405621 A>G), RS10154340 (14:19419297 G>T), RS10154413 (14:19407303 G>A,T), RS10154547 (14:19421226 C>G,T), RS10154570 (14:19408545 C>A,T), RS1016407688 (14:19430630 G>C), RS1020092797 (14:19405556 T>C), RS1020250814 (14:19414695 T>C)

Disease associations

OMIM: gene MIM:608916 | 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

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
benzo(e)pyrene	increases methylation	1
(+)-JQ1 compound	increases expression	1
Calcitriol	increases expression, affects cotreatment	1
Methapyrilene	increases methylation	1
Silicon Dioxide	decreases expression	1
Testosterone	affects cotreatment, increases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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