POTEB3

Summary

POTEB3 (POTE ankyrin domain family member B3, HGNC:51240) is a protein-coding gene on chromosome 15q11.2, encoding POTE ankyrin domain family member B3 (A0JP26).

At a glance

• MANE Select transcript: NM_207355

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:51240
Approved symbol	POTEB3
Name	POTE ankyrin domain family member B3
Location	15q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000278522
Ensembl biotype	protein_coding
Entrez	102724631

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 nonsense_mediated_decay, 1 protein_coding

ENST00000611217, ENST00000612601, ENST00000624267

RefSeq mRNA: 1 — MANE Select: NM_207355 NM_207355

CCDS: CCDS73690

Canonical transcript exons

ENST00000611217 — 11 exons

Exon	Start	End
ENSE00001750950	21434994	21435108
ENSE00003711774	21434661	21434834
ENSE00003714732	21420674	21420718
ENSE00003720178	21405401	21409195
ENSE00003729719	21430264	21430401
ENSE00003735525	21431739	21431845
ENSE00003736044	21410878	21411001
ENSE00003741376	21419464	21419630
ENSE00003744314	21422120	21422190
ENSE00003747551	21427685	21427755
ENSE00003756157	21439491	21440499

Expression profiles

Bgee: expression breadth broad, 21 present calls, max score 75.48.

Top tissues by expression

85 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	75.48	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.74	gold quality
testis	UBERON:0000473	67.82	gold quality
left testis	UBERON:0004533	67.19	gold quality
right testis	UBERON:0004534	66.69	gold quality
stromal cell of endometrium	CL:0002255	50.57	silver quality
sural nerve	UBERON:0015488	49.06	gold quality
islet of Langerhans	UBERON:0000006	45.95	silver quality
monocyte	CL:0000576	44.46	gold quality
leukocyte	CL:0000738	44.06	gold quality
placenta	UBERON:0001987	44.03	silver quality
ventricular zone	UBERON:0003053	43.52	gold quality
cortical plate	UBERON:0005343	43.32	gold quality
apex of heart	UBERON:0002098	42.70	silver quality
lower esophagus mucosa	UBERON:0035834	42.19	silver quality
hindlimb stylopod muscle	UBERON:0004252	41.84	gold quality
duodenum	UBERON:0002114	41.20	gold quality
gall bladder	UBERON:0002110	41.19	gold quality
endometrium	UBERON:0001295	40.80	gold quality
heart left ventricle	UBERON:0002084	39.97	silver quality
right adrenal gland	UBERON:0001233	39.11	silver quality
granulocyte	CL:0000094	38.96	gold quality
right adrenal gland cortex	UBERON:0035827	38.83	silver quality
ganglionic eminence	UBERON:0004023	38.81	gold quality
pancreas	UBERON:0001264	38.76	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	38.46	silver quality
smooth muscle tissue	UBERON:0001135	38.44	gold quality
bone marrow cell	CL:0002092	38.05	gold quality
skeletal muscle tissue	UBERON:0001134	37.84	gold quality
adenohypophysis	UBERON:0002196	37.80	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.13

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (16): BCL3 (ENSG00000069399), NFKBIE (ENSG00000146232), POTED (ENSG00000166351), POTEC (ENSG00000183206), POTEG (ENSG00000187537), POTEE (ENSG00000188219), POTEA (ENSG00000188877), POTEF (ENSG00000196604), POTEI (ENSG00000196834), POTEH (ENSG00000198062), POTEM (ENSG00000222036), POTEJ (ENSG00000222038), POTEB2 (ENSG00000230031), POTEB (ENSG00000233917), (ENSG00000276760), (ENSG00000277630)

Protein

Protein identifiers

POTE ankyrin domain family member B3 — A0JP26 (reviewed: A0JP26)

All UniProt accessions (2): A0A0C4DH93, A0JP26

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the POTE family.

Isoforms (3)

UniProt ID	Names	Canonical?
A0JP26-1	1	yes
A0JP26-2	2
A0JP26-3	3

RefSeq proteins (1): NP_997238* (*=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 (24 total): sequence variant 8, repeat 6, compositionally biased region 3, splice 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-A0JP26-F1	68.30	0.38

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr15q11

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

1303 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POTEB3	GOLGA8S	H3BPF8	505
POTEB3	MYO15B	Q96JP2	495
POTEB3	GOLGA8M	H3BSY2	476
POTEB3	HRCT1	Q6UXD1	475
POTEB3	SLC35E2A	P0CK97	447
POTEB3	CCDC177	Q9NQR7	446
POTEB3	OR6C3	Q9NZP0	434
POTEB3	KLHL29	Q96CT2	423
POTEB3	GOLGA6L7	A0A1B0GV03	374
POTEB3	RPTN	Q6XPR3	350
POTEB3	GOLGA6L1	Q8N7Z2	325
POTEB3	FOXN4	Q96NZ1	308
POTEB3	OR4M2	Q8NGB6	285
POTEB3	ZMIZ1	Q9ULJ6	268
POTEB3	PRR12	Q9ULL5	244

IntAct

31 interactions, top by confidence:

A	B	Type	Score
KRTAP4-5	POTEB3	psi-mi:“MI:0915”(physical association)	0.560
GAS8	POTEB3	psi-mi:“MI:0915”(physical association)	0.560
MACO1	POTEB3	psi-mi:“MI:0915”(physical association)	0.560
PHF19	POTEB3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP9-2	POTEB3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-9	POTEB3	psi-mi:“MI:0915”(physical association)	0.560
POTEB3	KRTAP4-5	psi-mi:“MI:0915”(physical association)	0.560
POTEB3	CYP21A2	psi-mi:“MI:0915”(physical association)	0.560
POTEB3	GAS8	psi-mi:“MI:0915”(physical association)	0.560
POTEB3	KRTAP4-11	psi-mi:“MI:0915”(physical association)	0.560
POTEB3	MACO1	psi-mi:“MI:0915”(physical association)	0.560
POTEB3	PHF19	psi-mi:“MI:0915”(physical association)	0.560
POTEB3	KRTAP9-2	psi-mi:“MI:0915”(physical association)	0.560
POTEB3	KRTAP5-9	psi-mi:“MI:0915”(physical association)	0.560
POTEB3	POTEF	psi-mi:“MI:0914”(association)	0.530
TRIM23	POTEB3	psi-mi:“MI:0914”(association)	0.530
HEXB	POTEB	psi-mi:“MI:0914”(association)	0.350
POTEB3	POTEB	psi-mi:“MI:0914”(association)	0.350
REPIN1	POTEB	psi-mi:“MI:0914”(association)	0.350
TRIM23	POTEB	psi-mi:“MI:0914”(association)	0.350
CYP21A2	POTEB3	psi-mi:“MI:0915”(physical association)	0.000
KRTAP4-11	POTEB3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (34): POTED (Affinity Capture-MS), POTEB2 (Affinity Capture-MS), POTEC (Affinity Capture-MS), POTEB3 (Affinity Capture-MS), FAM83B (Affinity Capture-MS), SLAIN1 (Affinity Capture-MS), SCML2 (Affinity Capture-MS), POTEF (Affinity Capture-MS), CKAP5 (Affinity Capture-MS), USP7 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), SNX2 (Affinity Capture-MS), PDZRN3 (Affinity Capture-MS), CSNK1A1 (Affinity Capture-MS), SNX1 (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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1298 predictions. Top by Δscore:

Variant	Effect	Δscore
15:21410891:T:TA	donor_gain	1.0000
15:21410997:CGTCA:C	acceptor_gain	1.0000
15:21411000:CA:C	acceptor_gain	1.0000
15:21411002:C:CC	acceptor_gain	1.0000
15:21419461:CA:C	donor_loss	1.0000
15:21419462:A:AC	donor_gain	1.0000
15:21419463:C:CC	donor_gain	1.0000
15:21419463:C:CT	donor_loss	1.0000
15:21419632:T:C	acceptor_gain	1.0000
15:21419636:G:C	acceptor_gain	1.0000
15:21419636:G:GC	acceptor_gain	1.0000
15:21422106:A:AC	donor_gain	1.0000
15:21422107:A:C	donor_gain	1.0000
15:21430262:A:AC	donor_gain	1.0000
15:21430263:C:CC	donor_gain	1.0000
15:21430263:CA:C	donor_gain	1.0000
15:21431799:T:TA	donor_gain	1.0000
15:21431842:CACA:C	acceptor_gain	1.0000
15:21431844:CA:C	acceptor_gain	1.0000
15:21434655:CTATA:C	donor_loss	1.0000
15:21434656:TATA:T	donor_loss	1.0000
15:21434656:TATAC:T	donor_loss	1.0000
15:21434658:TACC:T	donor_loss	1.0000
15:21434658:TACCT:T	donor_loss	1.0000
15:21434659:A:T	donor_loss	1.0000
15:21434660:C:CA	donor_loss	1.0000
15:21434833:GCCTG:G	acceptor_loss	1.0000
15:21434839:CAG:C	acceptor_gain	1.0000
15:21434840:A:T	acceptor_gain	1.0000
15:21434841:G:GC	acceptor_gain	1.0000

AlphaMissense

3917 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:21434765:C:G	D236H	0.970
15:21434834:C:G	A213P	0.970
15:21434698:A:G	L258P	0.964
15:21439572:G:T	A147D	0.964
15:21435022:T:A	D203V	0.962
15:21435091:G:T	A180D	0.962
15:21439504:C:G	D170H	0.962
15:21435108:C:A	R174S	0.961
15:21435108:C:G	R174S	0.961
15:21430385:C:G	A312P	0.960
15:21434735:C:G	A246P	0.958
15:21435092:C:G	A180P	0.956
15:21434664:G:C	N269K	0.955
15:21434664:G:T	N269K	0.955
15:21434797:A:G	L225S	0.954
15:21434734:G:T	A246D	0.953
15:21431786:A:C	F290L	0.951
15:21431786:A:T	F290L	0.951
15:21431788:A:G	F290L	0.951
15:21431821:C:G	G279R	0.951
15:21435023:C:G	D203H	0.951
15:21435021:G:C	D203E	0.950
15:21435021:G:T	D203E	0.950
15:21430384:G:T	A312D	0.949
15:21431820:C:T	G279D	0.948
15:21435103:G:T	A176D	0.947
15:21439503:T:A	D170V	0.944
15:21434763:A:C	D236E	0.943
15:21434763:A:T	D236E	0.943
15:21439502:G:C	D170E	0.943

dbSNP variants (sampled 300 via entrez): RS10152605 (15:21441754 C>A,T), RS1046286236 (15:20855192 T>G), RS111143775 (15:21410774 C>A,G,T), RS111252926 (15:21428234 A>T), RS111536426 (15:21408805 T>C), RS111626440 (15:21409099 T>G), RS111775751 (15:21441439 C>T), RS111828162 (15:21410745 A>G,T), RS111840221 (15:21405197 A>G), RS111993067 (15:21440536 T>C), RS111996064 (15:21408800 G>A), RS112139359 (15:21404935 T>C), RS112181469 (15:21424008 C>T), RS112225870 (15:21438475 G>T), RS112260914 (15:21440448 A>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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	1
Copper	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	decreases expression	1

Clinical trials (associated diseases)

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