POTEB2

Summary

POTEB2 (POTE ankyrin domain family member B2, HGNC:48327) is a protein-coding gene on chromosome 15q11.2, encoding POTE ankyrin domain family member B2 (H3BUK9).

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001277303

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:48327
Approved symbol	POTEB2
Name	POTE ankyrin domain family member B2
Location	15q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000230031
Ensembl biotype	protein_coding
Entrez	100287399

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 nonsense_mediated_decay, 1 protein_coding

ENST00000438063, ENST00000454856

RefSeq mRNA: 1 — MANE Select: NM_001277303 NM_001277303

CCDS: CCDS59248

Canonical transcript exons

ENST00000454856 — 11 exons

Exon	Start	End
ENSE00001595526	20856636	20856773
ENSE00001633973	20861042	20861215
ENSE00001664345	20858111	20858217
ENSE00001792833	20861375	20861489
ENSE00001797268	20848493	20848563
ENSE00001800789	20854057	20854127
ENSE00002229442	20865872	20866314
ENSE00003472191	20835372	20835603
ENSE00003501835	20837244	20837367
ENSE00003507473	20845833	20845999
ENSE00003640749	20847045	20847089

Expression profiles

Bgee: expression breadth tissue_specific, 8 present calls, max score 83.91.

Top tissues by expression

129 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	83.91	gold quality
testis	UBERON:0000473	44.56	gold quality
right testis	UBERON:0004534	43.03	gold quality
left testis	UBERON:0004533	42.57	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	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
lymph node	UBERON:0000029	29.98	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.80	gold quality
liver	UBERON:0002107	28.36	gold quality
duodenum	UBERON:0002114	28.14	gold quality
leukocyte	CL:0000738	27.43	gold quality
monocyte	CL:0000576	27.41	gold quality
tonsil	UBERON:0002372	27.05	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
muscle of leg	UBERON:0001383	25.48	gold quality
endometrium	UBERON:0001295	24.82	gold quality
frontal cortex	UBERON:0001870	24.75	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.17

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), POTEB (ENSG00000233917), (ENSG00000276760), (ENSG00000277630), POTEB3 (ENSG00000278522)

Protein

Protein identifiers

POTE ankyrin domain family member B2 — H3BUK9 (reviewed: H3BUK9)

All UniProt accessions (2): H3BUK9, Q495V5

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the POTE family.

RefSeq proteins (1): NP_001264232* (*=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 (10 total): repeat 5, compositionally biased region 3, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-H3BUK9-F1	71.95	0.45

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

746 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POTEB2	OR6C3	Q9NZP0	480
POTEB2	ACTBL2	Q562R1	395
POTEB2	SRRM3	A6NNA2	257
POTEB2	ACTC1	P04270	205
POTEB2	CGAS	Q8N884	179
POTEB2	HYLS1	Q96M11	172
POTEB2	UBASH3B	Q8TF42	167
POTEB2	CBARP	Q8N350	166
POTEB2	SUGP1	Q8IWZ8	163
POTEB2	NUDC	Q9Y266	163
POTEB2	CLRN3	Q8NCR9	162
POTEB2	CLINT1	Q14677	161
POTEB2	UTS2R	Q9UKP6	158
POTEB2	UBASH3A	P57075	156
POTEB2	ACBD6	Q9BR61	156

IntAct

5 interactions, top by confidence:

A	B	Type	Score
POTEB3	POTEF	psi-mi:“MI:0914”(association)	0.530
TRIM23	POTEB3	psi-mi:“MI:0914”(association)	0.530
CEP83	POTEC	psi-mi:“MI:0914”(association)	0.350
REPIN1		psi-mi:“MI:0914”(association)	0.350

BioGRID (10): POTEB2 (Affinity Capture-MS), POTEB2 (Affinity Capture-MS), POTEB2 (Affinity Capture-MS), POTEB2 (Affinity Capture-MS), POTEB2 (Affinity Capture-MS), POTEB2 (Affinity Capture-MS), POTEB2 (Affinity Capture-MS), POTEB2 (Affinity Capture-MS), POTEB (Negative Genetic), POTEB (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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1239 predictions. Top by Δscore:

Variant	Effect	Δscore
15:20837257:T:A	donor_gain	1.0000
15:20837363:CGTCA:C	acceptor_gain	1.0000
15:20837366:CA:C	acceptor_gain	1.0000
15:20837368:C:CC	acceptor_gain	1.0000
15:20845827:GCTTA:G	donor_loss	1.0000
15:20845828:CTTA:C	donor_loss	1.0000
15:20845829:TTA:T	donor_loss	1.0000
15:20845830:TA:T	donor_loss	1.0000
15:20845831:A:AC	donor_gain	1.0000
15:20845832:C:CC	donor_gain	1.0000
15:20845832:C:CT	donor_loss	1.0000
15:20845832:CCT:C	donor_gain	1.0000
15:20846001:T:C	acceptor_gain	1.0000
15:20846005:G:C	acceptor_gain	1.0000
15:20846005:G:GC	acceptor_gain	1.0000
15:20848479:A:AC	donor_gain	1.0000
15:20848480:A:C	donor_gain	1.0000
15:20856634:A:AC	donor_gain	1.0000
15:20856635:C:CC	donor_gain	1.0000
15:20856635:CA:C	donor_gain	1.0000
15:20858171:T:TA	donor_gain	1.0000
15:20858214:CACA:C	acceptor_gain	1.0000
15:20858216:CA:C	acceptor_gain	1.0000
15:20861036:CTATA:C	donor_loss	1.0000
15:20861037:TATAC:T	donor_loss	1.0000
15:20861038:ATACC:A	donor_loss	1.0000
15:20861039:TA:T	donor_loss	1.0000
15:20861040:A:AG	donor_loss	1.0000
15:20861220:CAG:C	acceptor_gain	1.0000
15:20861221:A:T	acceptor_gain	1.0000

AlphaMissense

3650 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1003286851 (15:20867849 C>T), RS1003882557 (15:20839758 C>T), RS1004891568 (15:20860258 T>C), RS1008150601 (15:20838285 A>C), RS1008687328 (15:20857016 A>G), RS1024624689 (15:20840011 A>G), RS1026559339 (15:20839685 G>A,T), RS1027977433 (15:20859808 T>C), RS1039112450 (15:20844110 T>C), RS1039637420 (15:20839288 C>T), RS1040526199 (15:20863372 T>C), RS1041996255 (15:20858778 A>G,T), RS1042111118 (15:20856039 G>T), RS1046012935 (15:20847997 A>C), RS1046286236 (15:20855192 T>G)

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)

Clinical trials (associated diseases)

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