POTEC

Summary

POTEC (POTE ankyrin domain family member C, HGNC:33894) is a protein-coding gene on chromosome 18p11.21, encoding POTE ankyrin domain family member C (B2RU33).

At a glance

• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001137671

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33894
Approved symbol	POTEC
Name	POTE ankyrin domain family member C
Location	18p11.21
Locus type	gene with protein product
Status	Approved
Aliases	POTE18, POTE-18, DKFZp686J0529, CT104.6
Ensembl gene	ENSG00000183206
Ensembl biotype	protein_coding
Entrez	388468

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000358970, ENST00000389891, ENST00000511306, ENST00000620346

RefSeq mRNA: 1 — MANE Select: NM_001137671 NM_001137671

CCDS: CCDS45835

Canonical transcript exons

ENST00000358970 — 11 exons

Exon	Start	End
ENSE00001627799	14507339	14511993
ENSE00001714841	14524913	14524983
ENSE00002067120	14542626	14543600
ENSE00003539759	14513662	14513785
ENSE00003585895	14523463	14523507
ENSE00003587331	14534901	14535007
ENSE00003599932	14533061	14533198
ENSE00003604598	14522254	14522420
ENSE00003620080	14537801	14537974
ENSE00003640480	14538135	14538249
ENSE00003680552	14530483	14530553

Expression profiles

Bgee: expression breadth broad, 49 present calls, max score 81.26.

Top tissues by expression

87 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	81.26	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.07	gold quality
testis	UBERON:0000473	71.03	gold quality
left testis	UBERON:0004533	70.04	gold quality
right testis	UBERON:0004534	69.26	gold quality
stromal cell of endometrium	CL:0002255	55.37	silver quality
placenta	UBERON:0001987	49.43	gold quality
islet of Langerhans	UBERON:0000006	48.20	gold quality
spleen	UBERON:0002106	48.06	gold quality
cortical plate	UBERON:0005343	46.72	gold quality
heart left ventricle	UBERON:0002084	46.47	gold quality
apex of heart	UBERON:0002098	46.27	gold quality
duodenum	UBERON:0002114	46.17	silver quality
monocyte	CL:0000576	44.92	gold quality
heart	UBERON:0000948	44.13	gold quality
leukocyte	CL:0000738	44.11	gold quality
gall bladder	UBERON:0002110	43.87	silver quality
skeletal muscle tissue	UBERON:0001134	43.45	gold quality
right atrium auricular region	UBERON:0006631	43.35	silver quality
right adrenal gland	UBERON:0001233	43.32	gold quality
pancreas	UBERON:0001264	43.18	gold quality
right adrenal gland cortex	UBERON:0035827	43.08	gold quality
muscle of leg	UBERON:0001383	42.18	silver quality
granulocyte	CL:0000094	42.05	silver quality
lymph node	UBERON:0000029	42.05	gold quality
adenohypophysis	UBERON:0002196	41.75	gold quality
gastrocnemius	UBERON:0001388	41.65	silver quality
left adrenal gland cortex	UBERON:0035825	41.29	silver quality
adrenal gland	UBERON:0002369	41.20	silver quality
left adrenal gland	UBERON:0001234	41.03	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

22 targeting POTEC, 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-4778-3P	99.93	70.40	1818
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-324-3P	99.26	66.31	1034
HSA-MIR-4687-5P	99.14	66.26	488
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-622	98.99	66.48	1050
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-129-1-3P	98.86	68.41	779
HSA-MIR-129-2-3P	98.86	68.41	779
HSA-MIR-4691-5P	98.41	66.77	1343
HSA-MIR-6792-3P	98.41	66.86	1359
HSA-MIR-6509-3P	98.32	67.33	1343
HSA-MIR-6779-3P	97.51	65.82	789
HSA-MIR-938	97.41	68.28	656
HSA-MIR-152-5P	96.42	66.59	960
HSA-MIR-1238-3P	95.27	62.25	552

Cross-species orthologs

0 orthologs

Paralogs (16): BCL3 (ENSG00000069399), NFKBIE (ENSG00000146232), POTED (ENSG00000166351), 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 C — B2RU33 (reviewed: B2RU33)

Alternative names: ANKRD26-like family B member 2, Prostate, ovary, testis-expressed protein on chromosome 18

All UniProt accessions (3): B2RU33, A0A087WXQ7, D7UEQ8

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Expressed in prostate and testis.

Similarity. Belongs to the POTE family.

RefSeq proteins (1): NP_001131143* (*=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 (26 total): sequence variant 11, repeat 7, compositionally biased region 4, 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-B2RU33-F1	66.12	0.36

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 8 (showing top): MIR4446_5P, MIR4778_3P, MIR6792_3P, MIR4691_5P, MIR129_1_3P_MIR129_2_3P, MIR152_5P, DESCARTES_MAIN_FETAL_SYNCYTIOTROPHOBLASTS_AND_VILLOUS_CYTOTROPHOBLASTS, chr18p11

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

1447 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POTEC	USP17L20	D6RJB6	603
POTEC	A0A3B3IRQ3	A0A3B3IRQ3	547
POTEC	SLC35G6	P0C7Q6	448
POTEC	KRTAP4-8	Q9BYQ9	447
POTEC	ZNF587B	E7ETH6	445
POTEC	TBC1D26	Q86UD7	432
POTEC	VCF2	Q5XKR9	400
POTEC	KRTAP4-3	Q9BYR4	399
POTEC	RGPD3	A6NKT7	384
POTEC	DTD2	Q96FN9	377
POTEC	ZNF519	Q8TB69	371
POTEC	KRTAP5-11	Q6L8G4	370
POTEC	KRTAP1-5	Q9BYS1	370
POTEC	KRTAP5-5	Q701N2	368
POTEC	KBTBD6	Q86V97	362

IntAct

9 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
CEP83	POTEC	psi-mi:“MI:0914”(association)	0.350
POTEB3	POTEB	psi-mi:“MI:0914”(association)	0.350
CEP83	POTEB	psi-mi:“MI:0914”(association)	0.350
POTEG	POTEF	psi-mi:“MI:0914”(association)	0.350
POTEC	FAM83B	psi-mi:“MI:0914”(association)	0.350

BioGRID (20): POTEC (Affinity Capture-MS), POTED (Affinity Capture-MS), POTEC (Affinity Capture-MS), USP7 (Affinity Capture-MS), CSNK1A1 (Affinity Capture-MS), POTEF (Affinity Capture-MS), HERC3 (Affinity Capture-MS), BAG1 (Affinity Capture-MS), HMMR (Affinity Capture-MS), POTEC (Affinity Capture-MS), POTEF (Affinity Capture-MS), BAG1 (Affinity Capture-MS), POTED (Affinity Capture-MS), CSNK1A1 (Affinity Capture-MS), HERC3 (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

3 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	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1276 predictions. Top by Δscore:

Variant	Effect	Δscore
18:14513781:CGTCA:C	acceptor_gain	1.0000
18:14513784:CA:C	acceptor_gain	1.0000
18:14513786:C:CC	acceptor_gain	1.0000
18:14522248:GCTTA:G	donor_loss	1.0000
18:14522249:CTTAC:C	donor_loss	1.0000
18:14522250:TTAC:T	donor_loss	1.0000
18:14522251:TACC:T	donor_loss	1.0000
18:14522252:A:AC	donor_gain	1.0000
18:14522253:C:CC	donor_gain	1.0000
18:14522253:CCT:C	donor_gain	1.0000
18:14522419:ACC:A	acceptor_loss	1.0000
18:14522422:T:C	acceptor_gain	1.0000
18:14533059:A:AC	donor_gain	1.0000
18:14533060:C:CC	donor_gain	1.0000
18:14533060:CA:C	donor_gain	1.0000
18:14535003:CCACA:C	acceptor_gain	1.0000
18:14535004:CACA:C	acceptor_gain	1.0000
18:14535004:CACAC:C	acceptor_gain	1.0000
18:14535006:CA:C	acceptor_gain	1.0000
18:14535008:C:CC	acceptor_gain	1.0000
18:14537795:CTATA:C	donor_loss	1.0000
18:14537796:TATA:T	donor_loss	1.0000
18:14537797:ATAC:A	donor_loss	1.0000
18:14537798:TACC:T	donor_loss	1.0000
18:14537799:A:C	donor_loss	1.0000
18:14537800:C:CA	donor_loss	1.0000
18:14537973:GCC:G	acceptor_loss	1.0000
18:14537975:C:A	acceptor_loss	1.0000
18:14537979:CAG:C	acceptor_gain	1.0000
18:14537980:A:T	acceptor_gain	1.0000

AlphaMissense

3664 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:14542707:G:T	A147D	0.967
18:14538163:T:A	D203V	0.966
18:14542639:C:G	D170H	0.966
18:14534946:A:G	L291S	0.964
18:14537974:C:G	A213P	0.963
18:14537905:C:G	D236H	0.961
18:14534948:A:C	F290L	0.960
18:14534948:A:T	F290L	0.960
18:14534950:A:G	F290L	0.960
18:14538249:C:A	R174S	0.960
18:14538249:C:G	R174S	0.960
18:14538232:G:T	A180D	0.959
18:14538235:A:G	L179S	0.956
18:14538220:C:A	G184V	0.954
18:14542638:T:A	D170V	0.954
18:14542638:T:G	D170A	0.954
18:14538164:C:G	D203H	0.952
18:14533182:C:G	A312P	0.951
18:14537937:A:G	L225S	0.951
18:14538162:G:C	D203E	0.951
18:14538162:G:T	D203E	0.951
18:14538244:G:T	A176D	0.951
18:14542637:G:C	D170E	0.951
18:14542637:G:T	D170E	0.951
18:14537905:C:A	D236Y	0.950
18:14537804:G:C	N269K	0.948
18:14537804:G:T	N269K	0.948
18:14537875:C:G	A246P	0.946
18:14538163:T:G	D203A	0.946
18:14538233:C:G	A180P	0.945

dbSNP variants (sampled 300 via entrez): RS1000058280 (18:14509519 C>T), RS1000167433 (18:14532186 T>C), RS1000186267 (18:14516773 A>G), RS1000198017 (18:14532441 T>G), RS1000494022 (18:14515000 A>T), RS1000791286 (18:14543341 C>A), RS1000843509 (18:14543516 C>T), RS1000970225 (18:14509755 T>C), RS1001053291 (18:14537663 T>A,C), RS1001062186 (18:14507360 A>T), RS1001062328 (18:14543623 G>A,C), RS1001207734 (18:14525618 A>G), RS1001281342 (18:14525869 C>T), RS1001364255 (18:14514324 G>A), RS1001402400 (18:14537467 A>C)

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

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	decreases expression, affects cotreatment	2
2,4,6-tribromophenol	decreases expression	1
pirinixic acid	decreases expression	1
bisphenol A	decreases expression	1
decabromobiphenyl ether	decreases expression	1
sodium arsenite	increases expression	1
tetrabromobisphenol A	decreases expression	1
2-palmitoylglycerol	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Calcitriol	increases expression, affects cotreatment	1
Copper	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Testosterone	affects cotreatment, increases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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