POTEH

Summary

POTEH (POTE ankyrin domain family member H, HGNC:133) is a protein-coding gene on chromosome 22q11.1, encoding POTE ankyrin domain family member H (Q6S545). It is a selective cancer dependency (DepMap: 13.9% of cell lines).

Predicted to be located in membrane.

Source: NCBI Gene 23784 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 98 total
• Cancer dependency (DepMap): dependent in 13.9% of screened cell lines
• MANE Select transcript: NM_001136213

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:133
Approved symbol	POTEH
Name	POTE ankyrin domain family member H
Location	22q11.1
Locus type	gene with protein product
Status	Approved
Aliases	POTE22, CT104.7
Ensembl gene	ENSG00000198062
Ensembl biotype	protein_coding
OMIM	608913
Entrez	23784

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay

ENST00000343518, ENST00000452800

RefSeq mRNA: 1 — MANE Select: NM_001136213 NM_001136213

CCDS: CCDS74808

Canonical transcript exons

ENST00000343518 — 11 exons

Exon	Start	End
ENSE00001413705	15690026	15690709
ENSE00001746577	15695371	15695485
ENSE00001788239	15695645	15695818
ENSE00003523951	15710868	15711034
ENSE00003533849	15702686	15702756
ENSE00003535920	15708020	15708090
ENSE00003539333	15709782	15709826
ENSE00003563151	15719660	15719778
ENSE00003623625	15700078	15700215
ENSE00003639359	15698662	15698768
ENSE00003711518	15721286	15721631

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 85.23.

Top tissues by expression

114 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	85.23	gold quality
prostate gland	UBERON:0002367	62.83	gold quality
testis	UBERON:0000473	54.96	gold quality
right testis	UBERON:0004534	52.82	gold quality
left testis	UBERON:0004533	52.29	gold quality
bone marrow cell	CL:0002092	42.90	gold quality
lower esophagus mucosa	UBERON:0035834	41.93	silver quality
tonsil	UBERON:0002372	39.20	gold quality
skeletal muscle tissue	UBERON:0001134	39.10	gold quality
ganglionic eminence	UBERON:0004023	37.25	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
sural nerve	UBERON:0015488	36.64	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
mucosa of transverse colon	UBERON:0004991	36.20	gold quality
muscle tissue	UBERON:0002385	35.27	gold quality
bone marrow	UBERON:0002371	35.19	gold quality
right uterine tube	UBERON:0001302	34.38	gold quality
lymph node	UBERON:0000029	33.79	gold quality
mucosa of stomach	UBERON:0001199	32.30	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
urinary bladder	UBERON:0001255	31.99	silver quality
calcaneal tendon	UBERON:0003701	31.35	gold quality
liver	UBERON:0002107	30.35	gold quality
monocyte	CL:0000576	30.33	gold quality
primary visual cortex	UBERON:0002436	30.30	gold quality
leukocyte	CL:0000738	30.08	gold quality
adult mammalian kidney	UBERON:0000082	29.93	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.70	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.11
E-HCAD-30	no	11.41

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting POTEH, 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-3692-3P	99.98	70.27	2139
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-6758-3P	99.57	67.55	1078
HSA-MIR-6797-3P	99.17	66.94	668
HSA-MIR-382-3P	98.83	67.10	1074
HSA-MIR-760	98.81	66.65	1392
HSA-MIR-548Q	98.71	65.35	563
HSA-MIR-6076	98.61	65.69	637
HSA-MIR-4691-5P	98.41	66.77	1343
HSA-MIR-6792-3P	98.41	66.86	1359
HSA-MIR-3670	97.88	64.39	763
HSA-MIR-7855-5P	97.39	67.18	925

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 13.9% of screened cell lines.

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), POTEM (ENSG00000222036), POTEJ (ENSG00000222038), POTEB2 (ENSG00000230031), POTEB (ENSG00000233917), (ENSG00000276760), (ENSG00000277630), POTEB3 (ENSG00000278522)

Protein

Protein identifiers

POTE ankyrin domain family member H — Q6S545 (reviewed: Q6S545)

Alternative names: ANKRD26-like family C member 3, Prostate, ovary, testis-expressed protein on chromosome 22

All UniProt accessions (2): Q6S545, H0YG78

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the POTE family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6S545-1	1	yes
Q6S545-2	2

RefSeq proteins (1): NP_001129685* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF12796

UniProt features (14 total): repeat 7, compositionally biased region 3, chain 1, splice variant 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6S545-F1	63.45	0.37

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 15 (showing top): ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, FOXN3_TARGET_GENES, KMT2D_TARGET_GENES, SMCHD1_TARGET_GENES, ZNF618_TARGET_GENES, GSE10239_MEMORY_VS_KLRG1INT_EFF_CD8_TCELL_UP, MIR760, MYBL1_TARGET_GENES, GSE8835_HEALTHY_VS_CLL_CD4_TCELL_DN, GSE23925_DARK_ZONE_VS_NAIVE_BCELL_DN, GSE17301_CTRL_VS_48H_ACD3_ACD28_STIM_CD8_TCELL_DN, GSE11961_FOLLICULAR_BCELL_VS_GERMINAL_CENTER_BCELL_DAY40_UP, GSE11961_GERMINAL_CENTER_BCELL_DAY7_VS_MEMORY_BCELL_DAY40_DN, GSE28737_WT_VS_BCL6_KO_MARGINAL_ZONE_BCELL_DN, chr22q11

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

1481 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POTEH	ATP5MGL	Q7Z4Y8	434
POTEH	SPATA45	Q537H7	432
POTEH	OR6K3	Q8NGY3	432
POTEH	CCT8L2	Q96SF2	425
POTEH	OR11H1	Q8NG94	420
POTEH	RIMBP3B	A6NNM3	417
POTEH	SLC35E4	Q6ICL7	397
POTEH	C1orf141	Q5JVX7	370
POTEH	RGPD4	Q7Z3J3	355
POTEH	TMEM121B	Q9BXQ6	351
POTEH	RIMBP3C	A6NJZ7	349
POTEH	XKR3	Q5GH77	340
POTEH	SEMA4A	Q9H3S1	337
POTEH	DDTL	A6NHG4	329
POTEH	LENEP	Q9Y5L5	327

IntAct

3 interactions, top by confidence:

A	B	Type	Score
MME		psi-mi:“MI:0914”(association)	0.350
POTEG	POTEF	psi-mi:“MI:0914”(association)	0.350

BioGRID (1): POTEH (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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	86
Likely benign	10
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1267 predictions. Top by Δscore:

Variant	Effect	Δscore
22:15690706:T:TA	donor_gain	1.0000
22:15690708:CCT:C	donor_gain	1.0000
22:15695368:C:CC	acceptor_gain	1.0000
22:15695369:CCTA:C	acceptor_gain	1.0000
22:15695370:TC:T	acceptor_gain	1.0000
22:15695370:TCCTA:T	acceptor_loss	1.0000
22:15695373:CAGTC:C	acceptor_gain	1.0000
22:15695484:C:CT	donor_loss	1.0000
22:15695485:ACCTT:A	donor_loss	1.0000
22:15695488:CATA:C	donor_loss	1.0000
22:15695627:C:CT	acceptor_gain	1.0000
22:15695817:CCTT:C	donor_loss	1.0000
22:15695818:ACCT:A	donor_loss	1.0000
22:15695819:TA:T	donor_loss	1.0000
22:15695820:ATAC:A	donor_loss	1.0000
22:15695821:TATAC:T	donor_loss	1.0000
22:15695822:CTATA:C	donor_loss	1.0000
22:15698661:TG:T	acceptor_gain	1.0000
22:15698663:CATG:C	acceptor_gain	1.0000
22:15698764:T:A	donor_gain	1.0000
22:15700074:T:A	acceptor_loss	1.0000
22:15700075:C:CC	acceptor_gain	1.0000
22:15700075:C:T	acceptor_loss	1.0000
22:15700076:TC:T	acceptor_loss	1.0000
22:15700077:TT:T	acceptor_gain	1.0000
22:15700078:GTT:G	acceptor_gain	1.0000
22:15700078:GTTC:G	acceptor_loss	1.0000
22:15700079:AGTT:A	acceptor_gain	1.0000
22:15700080:CAGTT:C	acceptor_gain	1.0000
22:15700187:C:CC	donor_gain	1.0000

AlphaMissense

3667 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:15695645:G:C	A250P	0.956
22:15690696:G:C	D207H	0.952
22:15690628:C:A	A184D	0.947
22:15700094:G:C	A349P	0.941
22:15695385:T:C	L216P	0.940
22:15698719:T:C	F327L	0.939
22:15698721:T:A	F327L	0.939
22:15698721:T:G	F327L	0.939
22:15695388:C:A	A217D	0.937
22:15695682:T:C	L262S	0.937
22:15698686:G:C	G316R	0.928
22:15695387:G:C	A217P	0.927
22:15695457:A:T	D240V	0.927
22:15695744:G:C	A283P	0.927
22:15700095:C:A	A349D	0.927
22:15695815:C:A	N306K	0.925
22:15695815:C:G	N306K	0.925
22:15695458:C:A	D240E	0.924
22:15695458:C:G	D240E	0.924
22:15695371:G:C	R211S	0.922
22:15695371:G:T	R211S	0.922
22:15690698:C:A	D207E	0.919
22:15690698:C:G	D207E	0.919
22:15695456:G:C	D240H	0.918
22:15698687:G:A	G316D	0.917
22:15695376:C:A	A213D	0.914
22:15700122:T:A	V358D	0.914
22:15690627:G:C	A184P	0.913
22:15700131:T:C	L361P	0.910
22:15698723:T:C	L328S	0.908

dbSNP variants (sampled 300 via entrez): RS1000082583 (22:15689994 C>A,G,T), RS1000454450 (22:15688130 T>A,C), RS1001727527 (22:15694327 C>A), RS1002095574 (22:15702114 A>G), RS1002160125 (22:15696363 C>G,T), RS1002467575 (22:15700641 A>G), RS1003709697 (22:15709091 A>G), RS1004015518 (22:15719568 A>G), RS1005576790 (22:15691873 A>G), RS1005933673 (22:15697849 C>G), RS1006014132 (22:15693260 T>C), RS1006318254 (22:15697252 T>C), RS1007578149 (22:15704494 G>C), RS1007936158 (22:15718845 C>G,T), RS1008329063 (22:15716603 A>G)

Disease associations

OMIM: gene MIM:608913 | 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

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Amiodarone	increases expression	1
Benzo(a)pyrene	increases methylation	1
Calcitriol	increases expression, affects cotreatment	1
Testosterone	affects cotreatment, increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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