POTEM

Summary

POTEM (POTE ankyrin domain family member M, HGNC:37096) is a protein-coding gene on chromosome 14q11.2, encoding Putative POTE ankyrin domain family member M (A6NI47).

Predicted to be located in membrane.

Source: NCBI Gene 641455 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 82 total
• MANE Select transcript: NM_001145442

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37096
Approved symbol	POTEM
Name	POTE ankyrin domain family member M
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Aliases	POTE14beta, P704P, ACT
Ensembl gene	ENSG00000222036
Ensembl biotype	protein_coding
Entrez	641455

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 nonsense_mediated_decay, 1 protein_coding

ENST00000547889, ENST00000552966, ENST00000616847

RefSeq mRNA: 1 — MANE Select: NM_001145442 NM_001145442

CCDS: CCDS73609

Canonical transcript exons

ENST00000547889 — 11 exons

Exon	Start	End
ENSE00001675262	18972760	18972874
ENSE00001675519	18967434	18968006
ENSE00001764025	18973034	18973207
ENSE00003475634	18997041	18997159
ENSE00003481351	18987169	18987213
ENSE00003517493	18976049	18976155
ENSE00003622636	18980074	18980144
ENSE00003623086	18977466	18977603
ENSE00003664647	18988255	18988421
ENSE00003687083	18985411	18985481
ENSE00003890093	18998667	19003752

Expression profiles

Bgee: expression breadth broad, 81 present calls, max score 99.57.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	99.57	gold quality
sperm	CL:0000019	95.47	gold quality
adult organism	UBERON:0007023	92.31	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.99	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.34	gold quality
prostate gland	UBERON:0002367	75.98	gold quality
testis	UBERON:0000473	71.19	gold quality
left testis	UBERON:0004533	69.13	gold quality
right testis	UBERON:0004534	68.41	gold quality
tendon of biceps brachii	UBERON:0008188	67.21	silver quality
medial globus pallidus	UBERON:0002477	65.33	silver quality
kidney epithelium	UBERON:0004819	64.85	gold quality
tibialis anterior	UBERON:0001385	64.56	silver quality
ileal mucosa	UBERON:0000331	64.26	gold quality
mammary duct	UBERON:0001765	64.21	gold quality
epithelium of mammary gland	UBERON:0003244	64.16	gold quality
globus pallidus	UBERON:0001875	62.91	silver quality
oviduct epithelium	UBERON:0004804	62.25	gold quality
upper leg skin	UBERON:0004262	60.91	silver quality
superficial temporal artery	UBERON:0001614	58.82	gold quality
decidua	UBERON:0002450	58.09	gold quality
gingival epithelium	UBERON:0001949	56.42	gold quality
pigmented layer of retina	UBERON:0001782	56.41	gold quality
corpus epididymis	UBERON:0004359	56.39	gold quality
stromal cell of endometrium	CL:0002255	56.37	gold quality
cauda epididymis	UBERON:0004360	56.10	gold quality
deltoid	UBERON:0001476	55.98	gold quality
trabecular bone tissue	UBERON:0002483	55.95	gold quality
placenta	UBERON:0001987	55.89	silver quality
caput epididymis	UBERON:0004358	55.78	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.45

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

167 targeting POTEM, 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-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-433-3P	99.98	69.37	1203
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-6793-5P	99.97	65.95	758
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-613	99.91	71.50	1710

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), POTEJ (ENSG00000222038), POTEB2 (ENSG00000230031), POTEB (ENSG00000233917), (ENSG00000276760), (ENSG00000277630), POTEB3 (ENSG00000278522)

Protein

Protein identifiers

Putative POTE ankyrin domain family member M — A6NI47 (reviewed: A6NI47)

All UniProt accessions (3): A6NI47, A0A087X187, A0A0H2UH41

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the POTE family.

RefSeq proteins (1): NP_001138914* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF12796

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-A6NI47-F1	65.45	0.38

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 26 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, MIR627_3P, MIR6833_3P, MIR545_3P, MIR587, MIR3120_3P, MIR5195_3P, MIR145_5P, MIR6830_3P, MIR4297, MIR5589_3P, MIR3191_5P, MIR3652, MIR4430

GO Biological Process (0):

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

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1513 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POTEM	OR4M1	Q8NGD0	540
POTEM	A0A3B3IRQ3	A0A3B3IRQ3	526
POTEM	TRIM64B	A6NI03	477
POTEM	OR11H2	Q8NH07	477
POTEM	OR4Q3	Q8NH05	447
POTEM	SLC35G6	P0C7Q6	446
POTEM	KRTAP4-8	Q9BYQ9	445
POTEM	RGPD3	A6NKT7	423
POTEM	OR4K5	Q8NGD3	418
POTEM	OR4K2	Q8NGD2	399
POTEM	OR4K1	Q8NGD4	397
POTEM	VCF2	Q5XKR9	394
POTEM	KRTAP4-3	Q9BYR4	391
POTEM	OR4N2	Q8NGD1	380
POTEM	DTD2	Q96FN9	370
POTEM	OR11H12	B2RN74	370

IntAct

0 interactions, top by confidence:

BioGRID (2): POTEM (Affinity Capture-MS), POTEM (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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	69
Likely benign	12
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1560 predictions. Top by Δscore:

Variant	Effect	Δscore
14:18968004:G:GT	donor_gain	1.0000
14:18968004:GAG:G	donor_gain	1.0000
14:18972756:ATAG:A	acceptor_gain	1.0000
14:18972757:TA:T	acceptor_loss	1.0000
14:18972758:A:AG	acceptor_gain	1.0000
14:18972758:AG:A	acceptor_gain	1.0000
14:18972759:G:GT	acceptor_gain	1.0000
14:18972759:G:T	acceptor_loss	1.0000
14:18972759:GG:G	acceptor_gain	1.0000
14:18972759:GGACT:G	acceptor_gain	1.0000
14:18972871:AAAG:A	donor_loss	1.0000
14:18972872:AAGG:A	donor_loss	1.0000
14:18972874:GGTAT:G	donor_loss	1.0000
14:18972875:G:C	donor_loss	1.0000
14:18973017:T:TA	acceptor_gain	1.0000
14:18973024:A:G	acceptor_gain	1.0000
14:18973203:ACAAG:A	donor_loss	1.0000
14:18973204:CAAG:C	donor_loss	1.0000
14:18973205:AAGG:A	donor_loss	1.0000
14:18973206:AGG:A	donor_loss	1.0000
14:18973208:GTATA:G	donor_loss	1.0000
14:18973209:T:A	donor_loss	1.0000
14:18976047:A:AG	acceptor_gain	1.0000
14:18976047:AGCAT:A	acceptor_gain	1.0000
14:18976048:G:GG	acceptor_gain	1.0000
14:18976048:GC:G	acceptor_gain	1.0000
14:18976048:GCAT:G	acceptor_gain	1.0000
14:18976048:GCATG:G	acceptor_gain	1.0000
14:18976153:A:T	donor_gain	1.0000
14:18977459:A:AG	acceptor_gain	1.0000

AlphaMissense

3407 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:18967993:G:C	D170H	0.962
14:18973034:G:C	A213P	0.961
14:18972760:G:C	R174S	0.958
14:18972760:G:T	R174S	0.958
14:18967925:C:A	A147D	0.950
14:18972774:T:C	L179P	0.946
14:18973071:T:C	L225S	0.943
14:18976106:T:C	F290L	0.943
14:18976108:C:A	F290L	0.943
14:18976108:C:G	F290L	0.943
14:18972776:G:C	A180P	0.938
14:18972777:C:A	A180D	0.937
14:18973204:C:A	N269K	0.935
14:18973204:C:G	N269K	0.935
14:18972765:C:A	A176D	0.932
14:18972782:G:C	A182P	0.932
14:18973133:G:C	A246P	0.932
14:18972846:A:T	D203V	0.931
14:18973170:T:C	L258P	0.929
14:18972847:C:A	D203E	0.927
14:18972847:C:G	D203E	0.927
14:18967994:A:C	D170A	0.926
14:18972874:G:C	K212N	0.925
14:18972874:G:T	K212N	0.925
14:18967995:C:A	D170E	0.922
14:18967995:C:G	D170E	0.922
14:18972845:G:C	D203H	0.918
14:18972789:G:T	G184V	0.917
14:18967994:A:T	D170V	0.916
14:18972859:G:C	R207S	0.912

dbSNP variants (sampled 300 via entrez): RS1000544170 (14:18974287 T>C), RS1000638852 (14:18980939 C>T), RS1001874385 (14:18990905 A>C,G), RS1002367911 (14:19000292 A>G), RS1004196550 (14:18972101 C>A,G,T), RS1005776164 (14:19000421 T>C), RS1005807127 (14:18991138 C>G,T), RS1009326980 (14:18982812 A>G), RS1009708453 (14:18988258 G>C), RS1011814444 (14:18969414 A>C,G,T), RS10154345 (14:18971916 A>G), RS10154446 (14:18978065 G>A,C,T), RS10154556 (14:18971904 G>C,T), RS10154577 (14:18981955 T>C,G), RS1015715413 (14:18970892 A>C,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)

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	increases expression	1
bisphenol A	decreases expression	1
butyraldehyde	increases expression	1
beta-methylcholine	affects expression	1
tacedinaline	increases expression	1
entinostat	increases expression	1
scriptaid	increases expression	1
ICG 001	decreases expression	1
mocetinostat	increases expression	1
suberoyl bis-hydroxamic acid	increases expression	1
jinfukang	decreases expression	1
(+)-JQ1 compound	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
nabiximols	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Vorinostat	increases expression	1
Antimycin A	decreases expression	1
Calcitriol	increases expression, affects cotreatment	1
Copper	decreases expression, affects cotreatment	1
Hydrogen Peroxide	affects expression	1
Silicon Dioxide	decreases expression	1
Testosterone	affects cotreatment, increases expression	1
Tunicamycin	decreases expression	1
Valproic Acid	increases methylation	1
Metribolone	increases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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