POTEA

Summary

POTEA (POTE ankyrin domain family member A (gene/pseudogene), HGNC:33893) is a protein-coding gene on chromosome 8p11.1, encoding POTE ankyrin domain family member A (Q6S8J7).

At a glance

• Clinical variants (ClinVar): 8 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33893
Approved symbol	POTEA
Name	POTE ankyrin domain family member A (gene/pseudogene)
Location	8p11.1
Locus type	gene with protein product
Status	Approved
Aliases	POTE8, POTE-8, CT104.3
Ensembl gene	ENSG00000188877
Ensembl biotype	protein_coding
OMIM	608915
Entrez	340441

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding_LoF

ENST00000519951, ENST00000522175

RefSeq mRNA: 2 — MANE Select: None NM_001002920, NM_001005365

Canonical transcript exons

ENST00000519951 — 14 exons

Exon	Start	End
ENSE00002054649	43315891	43315961
ENSE00002065441	43317354	43317398
ENSE00002073911	43342187	43342328
ENSE00002077190	43341879	43341909
ENSE00002092257	43318456	43318622
ENSE00002104269	43301973	43302110
ENSE00002104280	43300518	43300624
ENSE00002104552	43356759	43356972
ENSE00002119156	43304699	43304769
ENSE00002128648	43362951	43363518
ENSE00002129847	43297286	43297459
ENSE00002137996	43292483	43292783
ENSE00002138164	43297020	43297134
ENSE00002158537	43361043	43361166

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 53.05.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0231 / max 23.4564, expressed in 4 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
88736	0.0231	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	53.05	gold quality
testis	UBERON:0000473	52.63	gold quality
right testis	UBERON:0004534	51.78	gold quality
sural nerve	UBERON:0015488	39.45	gold quality
granulocyte	CL:0000094	39.26	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	35.03	gold quality
tonsil	UBERON:0002372	34.25	gold quality
lymph node	UBERON:0000029	34.01	silver quality
muscle tissue	UBERON:0002385	32.27	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
leukocyte	CL:0000738	30.71	gold quality
monocyte	CL:0000576	30.30	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.19	gold quality
urinary bladder	UBERON:0001255	28.94	gold quality
liver	UBERON:0002107	28.27	gold quality
duodenum	UBERON:0002114	28.14	gold quality
right coronary artery	UBERON:0001625	27.65	gold quality
blood	UBERON:0000178	26.93	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.94

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

51 targeting POTEA, 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-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-26A-1-3P	99.64	66.81	788
HSA-MIR-26A-2-3P	99.64	66.82	786
HSA-MIR-216A-5P	99.50	68.02	1288
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-508-5P	99.41	64.25	1248
HSA-MIR-3182	99.40	68.15	2454
HSA-MIR-5584-3P	99.23	68.79	1351
HSA-MIR-2054	99.20	68.89	1699
HSA-MIR-3168	99.08	67.75	1384
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-4699-5P	98.99	67.50	1210

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
mus_musculus	Potefam1	ENSMUSG00000027157
mus_musculus	Ankrd7	ENSMUSG00000029517
mus_musculus	Potefam3a	ENSMUSG00000074449
mus_musculus	Potefam3b	ENSMUSG00000095294
mus_musculus	Potefam3e	ENSMUSG00000096265
mus_musculus	Potefam3d	ENSMUSG00000106824
mus_musculus	Potefam3c	ENSMUSG00000107280
mus_musculus	Potefam3f	ENSMUSG00000110591
rattus_norvegicus	A630010A05Rikl	ENSRNOG00000040121
rattus_norvegicus	Potefam1	ENSRNOG00000064354
rattus_norvegicus		ENSRNOG00000066981

Paralogs (16): BCL3 (ENSG00000069399), NFKBIE (ENSG00000146232), POTED (ENSG00000166351), POTEC (ENSG00000183206), POTEG (ENSG00000187537), POTEE (ENSG00000188219), 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 A — Q6S8J7 (reviewed: Q6S8J7)

Alternative names: ANKRD26-like family A member 1, Prostate, ovary, testis-expressed protein on chromosome 8

All UniProt accessions (0):

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the POTE family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6S8J7-1	1, A	yes
Q6S8J7-2	2, B

RefSeq proteins (2): NP_001002920, NP_001005365 (*=MANE)

Domains & families (InterPro)

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

Pfam: PF12796

UniProt features (13 total): repeat 5, compositionally biased region 4, chain 1, splice variant 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6S8J7-F1	68.79	0.39

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 15 (showing top): ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, ZNF618_TARGET_GENES, MIR4659A_3P_MIR4659B_3P, MIR627_3P, MIR6875_3P, MIR3168, MIR216B_3P, MIR152_5P, MIR508_5P, MIR26A_1_3P, MIR26A_2_3P, chr8p11, WEBER_METHYLATED_ICP_IN_SPERM_UP, WEBER_METHYLATED_ICP_IN_FIBROBLAST, NIKOLSKY_BREAST_CANCER_8P12_P11_AMPLICON

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

4 interactions, top by confidence:

A	B	Type	Score
POTEA	TFRC	psi-mi:“MI:0915”(physical association)	0.400
POTEG	POTEF	psi-mi:“MI:0914”(association)	0.350
POTEA	PTPRD	psi-mi:“MI:0914”(association)	0.350

BioGRID (5): POTEA (Affinity Capture-MS), POTEA (Proximity Label-MS), VPS9D1 (Affinity Capture-MS), POTEA (Affinity Capture-MS), PTPRD (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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000029273 (8:43348189 G>A), RS1000098067 (8:43308418 A>T), RS1000139528 (8:43345120 A>G), RS1000164598 (8:43322043 G>A,T), RS1000201048 (8:43327205 C>G,T), RS1000217773 (8:43317643 C>A), RS1000242993 (8:43354422 T>A), RS1000270021 (8:43317885 C>A,T), RS1000286548 (8:43329403 A>G), RS1000367714 (8:43307285 G>A), RS1000398685 (8:43332689 T>C), RS1000399721 (8:43358293 G>C), RS1000429410 (8:43313535 CT>C,CTT), RS1000430815 (8:43358120 G>C), RS1000439749 (8:43340726 C>A,T)

Disease associations

OMIM: gene MIM:608915 | 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

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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