POTED

Summary

POTED (POTE ankyrin domain family member D, HGNC:23822) is a protein-coding gene on chromosome 21q11.2, encoding POTE ankyrin domain family member D (Q86YR6).

Predicted to be located in plasma membrane.

Source: NCBI Gene 317754 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 48 total
• MANE Select transcript: NM_174981

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23822
Approved symbol	POTED
Name	POTE ankyrin domain family member D
Location	21q11.2
Locus type	gene with protein product
Status	Approved
Aliases	POTE, POTE-21, POTE21, CT104.1
Ensembl gene	ENSG00000166351
Ensembl biotype	protein_coding
OMIM	607549
Entrez	317754

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000299443, ENST00000620442

RefSeq mRNA: 1 — MANE Select: NM_174981 NM_174981

CCDS: CCDS13562

Canonical transcript exons

ENST00000299443 — 11 exons

Exon	Start	End
ENSE00001608826	13639515	13639638
ENSE00001623983	13641345	13645823
ENSE00001625877	13628382	13628452
ENSE00001632001	13615397	13615570
ENSE00001645546	13630941	13631107
ENSE00001690230	13609777	13610749
ENSE00001690399	13629856	13629900
ENSE00001693437	13620158	13620295
ENSE00001700824	13615123	13615237
ENSE00001713835	13618349	13618455
ENSE00001784960	13622805	13622875

Expression profiles

Bgee: expression breadth tissue_specific, 4 present calls, max score 80.11.

Top tissues by expression

132 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	80.11	gold quality
bone marrow cell	CL:0002092	38.05	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
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	35.03	gold quality
testis	UBERON:0000473	33.75	gold quality
bone marrow	UBERON:0002371	32.71	gold quality
right testis	UBERON:0004534	32.71	gold quality
muscle tissue	UBERON:0002385	32.27	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
left testis	UBERON:0004533	31.85	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
primary visual cortex	UBERON:0002436	30.14	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
liver	UBERON:0002107	28.34	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
leukocyte	CL:0000738	27.49	gold quality
monocyte	CL:0000576	27.48	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.90	gold quality
right coronary artery	UBERON:0001625	26.83	gold quality
blood	UBERON:0000178	26.70	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 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.99

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

• POTE protein isoforms were characterized and may have important signaling function in the reproductive system. (PMID:15276201)
• By immunohistochemistry we demonstrated that the POTE protein is expressed in primary spermatocytes, implying a role in spermatogenesis. (PMID:17996727)
• This study suggests POTE may have a role in apoptosis in the human testis. (PMID:22234308)

Cross-species orthologs

0 orthologs

Paralogs (16): BCL3 (ENSG00000069399), NFKBIE (ENSG00000146232), POTEC (ENSG00000183206), POTEG (ENSG00000187537), 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 D — Q86YR6 (reviewed: Q86YR6)

Alternative names: ANKRD26-like family B member 3, Ankyrin repeat domain-containing protein 21, Prostate, ovary, testis-expressed protein

All UniProt accessions (2): A0A087X1W7, Q86YR6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cell membrane.

Tissue specificity. Expressed in prostate, ovary, testis, placenta and prostate cancer cell lines. Localizes to basal and terminal prostate epithelial cells.

Similarity. Belongs to the POTE family.

RefSeq proteins (1): NP_778146* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR039497	CC144C-like_CC_dom	Domain
IPR050657

Pfam: PF12796, PF14915

UniProt features (17 total): repeat 6, compositionally biased region 4, sequence variant 3, chain 1, sequence conflict 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86YR6-F1	69.03	0.38

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 5 (showing top): CERIBELLI_PROMOTERS_INACTIVE_AND_BOUND_BY_NFY, CERIBELLI_GENES_INACTIVE_AND_BOUND_BY_NFY, GSE17974_IL4_AND_ANTI_IL12_VS_UNTREATED_1H_ACT_CD4_TCELL_UP, chr21q11, GSE41867_DAY15_EFFECTOR_VS_DAY30_MEMORY_CD8_TCELL_LCMV_ARMSTRONG_DN

GO Biological Process (0):

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

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1565 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POTED	ANK1	P16157	404
POTED	ANK3	Q12955	400
POTED	ANK2	Q01484	400
POTED	TCP10L	Q8TDR4	393
POTED	SPMIP2	Q96LM5	369
POTED	ACTB	P02570	362
POTED	REDIC1	Q86WS4	358
POTED	AGMAT	Q9BSE5	324
POTED	C9orf43	Q8TAL5	321
POTED	KRTAP10-1	P60331	320
POTED	FRG2B	Q96QU4	316
POTED	FAM209A	Q5JX71	314
POTED	ACTBL2	Q562R1	311
POTED	OR4A5	Q8NH83	311
POTED	MAGEB16	A2A368	310

IntAct

5 interactions, top by confidence:

A	B	Type	Score
POTEC	POTEF	psi-mi:“MI:0914”(association)	0.530
POTEB3	POTEF	psi-mi:“MI:0914”(association)	0.530
POTEB3	POTEB	psi-mi:“MI:0914”(association)	0.350

BioGRID (4): POTED (Affinity Capture-MS), POTED (Affinity Capture-MS), POTED (Affinity Capture-MS), POTED (Positive Genetic)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1308 predictions. Top by Δscore:

Variant	Effect	Δscore
21:13615234:AAAG:A	donor_loss	1.0000
21:13615237:GGTAT:G	donor_loss	1.0000
21:13615380:T:TA	acceptor_gain	1.0000
21:13615566:ACAAG:A	donor_loss	1.0000
21:13615567:CAAG:C	donor_loss	1.0000
21:13615568:AAGGT:A	donor_loss	1.0000
21:13615569:AGG:A	donor_loss	1.0000
21:13615570:GGTAT:G	donor_loss	1.0000
21:13615571:GTAT:G	donor_loss	1.0000
21:13615572:T:A	donor_loss	1.0000
21:13618348:GT:G	acceptor_gain	1.0000
21:13620294:GT:G	donor_gain	1.0000
21:13620296:G:GG	donor_gain	1.0000
21:13631104:ACAGG:A	donor_loss	1.0000
21:13631105:CAG:C	donor_gain	1.0000
21:13631106:AGGT:A	donor_loss	1.0000
21:13631107:GGTAA:G	donor_loss	1.0000
21:13631108:G:A	donor_loss	1.0000
21:13631108:G:GG	donor_gain	1.0000
21:13631109:T:A	donor_loss	1.0000
21:13639510:TCTAG:T	acceptor_loss	1.0000
21:13639511:CTAGT:C	acceptor_loss	1.0000
21:13639512:TAG:T	acceptor_loss	1.0000
21:13639513:A:AG	acceptor_gain	1.0000
21:13639513:AGT:A	acceptor_gain	1.0000
21:13639513:AGTGA:A	acceptor_loss	1.0000
21:13639514:G:GT	acceptor_gain	1.0000
21:13639514:GT:G	acceptor_gain	1.0000
21:13639514:GTG:G	acceptor_gain	1.0000
21:13639514:GTGA:G	acceptor_gain	1.0000

AlphaMissense

3941 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:13615209:A:T	D203V	0.976
21:13615397:G:C	A213P	0.975
21:13620174:G:C	A312P	0.972
21:13615466:G:C	D236H	0.970
21:13615496:G:C	A246P	0.970
21:13615567:C:A	N269K	0.970
21:13615567:C:G	N269K	0.970
21:13618406:T:C	F290L	0.970
21:13618408:T:A	F290L	0.970
21:13618408:T:G	F290L	0.970
21:13618373:G:C	G279R	0.968
21:13615533:T:C	L258P	0.966
21:13615210:C:A	D203E	0.962
21:13615210:C:G	D203E	0.962
21:13615466:G:T	D236Y	0.962
21:13618374:G:A	G279D	0.962
21:13618443:A:T	D302V	0.962
21:13615497:C:A	A246D	0.961
21:13620175:C:A	A312D	0.961
21:13620202:T:A	V321D	0.961
21:13615208:G:C	D203H	0.960
21:13615152:G:T	G184V	0.958
21:13615209:A:C	D203A	0.958
21:13615434:T:C	L225S	0.958
21:13615140:C:A	A180D	0.957
21:13618442:G:C	D302H	0.957
21:13610668:C:A	A147D	0.955
21:13615467:A:T	D236V	0.955
21:13615139:G:C	A180P	0.954
21:13615468:T:A	D236E	0.953

dbSNP variants (sampled 300 via entrez): RS1000078076 (21:13616664 G>T), RS1000262860 (21:13631122 A>G), RS1002102035 (21:13629894 TAGAG>T), RS1002537844 (21:13628453 G>A,T), RS1003161650 (21:13623672 C>G), RS1004258536 (21:13622840 A>AT), RS1005272565 (21:13616055 A>G), RS1005889921 (21:13645184 A>G), RS1006481289 (21:13634876 A>G), RS1006553053 (21:13640748 G>A,T), RS1006860665 (21:13638089 T>C), RS1006999044 (21:13608651 C>T), RS1007058464 (21:13642213 C>T), RS1007179385 (21:13612581 G>A), RS1007549787 (21:13631257 T>C)

Disease associations

OMIM: gene MIM:607549 | 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

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	increases expression	1
pirinixic acid	decreases expression	1
butyraldehyde	increases expression	1
2-amino-3,8-dimethylimidazo(4,5-f)quinoxaline	increases expression	1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Copper	decreases expression, affects cotreatment	1
Diethylhexyl Phthalate	decreases expression	1
Valproic Acid	increases methylation	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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