ANKRD20A1

Summary

ANKRD20A1 (ankyrin repeat domain 20 family member A1, HGNC:23665) is a protein-coding gene on chromosome 9q21.11, encoding Ankyrin repeat domain-containing protein 20A1 (Q5TYW2). It is a selective cancer dependency (DepMap: 80.0% of cell lines).

Located in plasma membrane.

Source: NCBI Gene 84210 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 4 total
• Cancer dependency (DepMap): dependent in 80.0% of screened cell lines
• MANE Select transcript: NM_032250

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23665
Approved symbol	ANKRD20A1
Name	ankyrin repeat domain 20 family member A1
Location	9q21.11
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp434A171
Ensembl gene	ENSG00000260691
Ensembl biotype	protein_coding
Entrez	84210

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 4 protein_coding_CDS_not_defined, 2 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000562196, ENST00000616155, ENST00000619063, ENST00000622129, ENST00000642071, ENST00000652170, ENST00000697265, ENST00000697278, ENST00000697279, ENST00000697280

RefSeq mRNA: 1 — MANE Select: NM_032250 NM_032250

CCDS: CCDS6620

Canonical transcript exons

ENST00000562196 — 15 exons

Exon	Start	End
ENSE00002583500	67887396	67887468
ENSE00002584124	67880476	67880545
ENSE00002590054	67887276	67887304
ENSE00002590259	67871157	67871212
ENSE00002593230	67900493	67902394
ENSE00002596263	67897559	67897722
ENSE00002615732	67862941	67863055
ENSE00002619840	67899147	67899327
ENSE00002622949	67867277	67867383
ENSE00002627395	67868429	67868566
ENSE00002627706	67893436	67893506
ENSE00002627754	67863218	67863391
ENSE00003726997	67877760	67877790
ENSE00003747597	67884486	67884570
ENSE00003917172	67858931	67859629

Expression profiles

Bgee: expression breadth ubiquitous, 131 present calls, max score 92.49.

Top tissues by expression

134 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	92.49	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.11	gold quality
sural nerve	UBERON:0015488	85.04	gold quality
ventricular zone	UBERON:0003053	78.45	gold quality
testis	UBERON:0000473	76.88	gold quality
left testis	UBERON:0004533	75.20	gold quality
right testis	UBERON:0004534	74.62	gold quality
lower esophagus mucosa	UBERON:0035834	69.92	gold quality
body of pancreas	UBERON:0001150	69.43	gold quality
right atrium auricular region	UBERON:0006631	69.00	gold quality
right uterine tube	UBERON:0001302	65.33	gold quality
pancreas	UBERON:0001264	65.09	gold quality
esophagus mucosa	UBERON:0002469	64.88	gold quality
ganglionic eminence	UBERON:0004023	64.46	gold quality
calcaneal tendon	UBERON:0003701	64.32	gold quality
endometrium	UBERON:0001295	64.17	gold quality
corpus callosum	UBERON:0002336	64.14	gold quality
tonsil	UBERON:0002372	63.90	gold quality
heart	UBERON:0000948	63.36	gold quality
right frontal lobe	UBERON:0002810	63.23	gold quality
apex of heart	UBERON:0002098	63.14	gold quality
pituitary gland	UBERON:0000007	63.11	gold quality
heart left ventricle	UBERON:0002084	63.02	gold quality
superior frontal gyrus	UBERON:0002661	62.75	gold quality
right hemisphere of cerebellum	UBERON:0014890	62.72	gold quality
right lung	UBERON:0002167	62.23	gold quality
tibial nerve	UBERON:0001323	62.16	gold quality
esophagus	UBERON:0001043	61.78	gold quality
cortical plate	UBERON:0005343	61.74	gold quality
rectum	UBERON:0001052	61.60	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.09
E-MTAB-6142	no	2.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

52 targeting ANKRD20A1, 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-126-5P	100.00	72.71	3180
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4282	99.99	75.36	6408
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-3685	99.62	68.83	1621
HSA-MIR-2053	99.57	69.15	1635
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-653-5P	99.46	67.35	1300
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-4777-5P	99.33	67.53	1148

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 80.0% of screened cell lines.

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-272n13.3	ENSDARG00000099768
drosophila_melanogaster	CG8679	FBGN0032934
drosophila_melanogaster	CG42391	FBGN0259737
caenorhabditis_elegans	lem-3	WBGENE00002276
caenorhabditis_elegans		WBGENE00019483
caenorhabditis_elegans		WBGENE00206377

Paralogs (7): ANKRD26 (ENSG00000107890), ANKRD30A (ENSG00000148513), ANKRD30BL (ENSG00000163046), ANKRD18A (ENSG00000180071), ANKRD30B (ENSG00000180777), ANKRD62 (ENSG00000181626), ANKRD18B (ENSG00000230453)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 20A1 — Q5TYW2 (reviewed: Q5TYW2)

All UniProt accessions (5): Q5TYW2, A0A087X161, A0A384NKR9, A0A494C151, A0A8V8TM75

RefSeq proteins (1): NP_115626* (*=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: PF00023, PF12796, PF14915

UniProt features (18 total): sequence conflict 6, repeat 5, coiled-coil region 3, region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5TYW2-F1	69.38	0.31

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 34 (showing top): MODULE_97, BENPORATH_ES_WITH_H3K27ME3, MODULE_182, MODULE_277, chr9q21, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_WITH_LMP1_UP, MODULE_358, MODULE_525, GHANDHI_DIRECT_IRRADIATION_UP, ZWANG_DOWN_BY_2ND_EGF_PULSE, MIR627_3P, MIR944, MIR4694_3P, MIR3942_3P, MIR6074

GO Biological Process (0):

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

GO Cellular Component (1): plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

542 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD20A1	OR4M2	Q8NGB6	471
ANKRD20A1	DCAF12L1	Q5VU92	444
ANKRD20A1	ZNG1C	Q5JTY5	435
ANKRD20A1	ZNG1F	Q4V339	435
ANKRD20A1	FAM72C	H0Y354	418
ANKRD20A1	FAM72B	Q86X60	407
ANKRD20A1	ZNG1A	Q9BRT8	395
ANKRD20A1	FAM72D	Q6L9T8	370
ANKRD20A1	RBMS1	P29558	357
ANKRD20A1	FAM72A	Q5TYM5	352
ANKRD20A1	ATP6V1C2	Q8NEY4	298
ANKRD20A1	SLC30A5	Q8TAD4	272
ANKRD20A1	SWAP70	Q9UH65	269
ANKRD20A1	MUC3A	Q02505	260
ANKRD20A1	SLITRK1	Q96PX8	247

IntAct

7 interactions, top by confidence:

A	B	Type	Score
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
NFATC1	NFATC1	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
BMI1	HMGB1P1	psi-mi:“MI:0914”(association)	0.350
ANKRD20A1	PTPN5	psi-mi:“MI:0914”(association)	0.350

BioGRID (10): ANKRD20A1 (Affinity Capture-MS), ANKRD20A4 (Affinity Capture-MS), PDZRN3 (Affinity Capture-MS), PTPN5 (Affinity Capture-MS), SOGA3 (Affinity Capture-MS), ANKRD20A2 (Affinity Capture-MS), ANKRD20A1 (Affinity Capture-MS), TSSC1 (Affinity Capture-MS), ANKRD20A1 (Negative Genetic), ANKRD20A1 (Negative Genetic)

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2175 predictions. Top by Δscore:

Variant	Effect	Δscore
9:67859626:ACAGG:A	donor_loss	1.0000
9:67859627:CAGGT:C	donor_loss	1.0000
9:67859628:AGG:A	donor_loss	1.0000
9:67859629:GGT:G	donor_loss	1.0000
9:67859630:GTAGC:G	donor_loss	1.0000
9:67859631:T:G	donor_loss	1.0000
9:67862939:A:AG	acceptor_gain	1.0000
9:67862940:G:GG	acceptor_gain	1.0000
9:67862940:GAACT:G	acceptor_gain	1.0000
9:67863201:T:A	acceptor_gain	1.0000
9:67863207:A:AG	acceptor_gain	1.0000
9:67863207:AACAC:A	acceptor_gain	1.0000
9:67863208:A:G	acceptor_gain	1.0000
9:67863210:AC:A	acceptor_gain	1.0000
9:67863211:C:CA	acceptor_gain	1.0000
9:67863211:C:G	acceptor_gain	1.0000
9:67866627:G:GT	donor_gain	1.0000
9:67866627:G:T	donor_gain	1.0000
9:67868562:ACAAA:A	donor_gain	1.0000
9:67868563:CAAA:C	donor_gain	1.0000
9:67868563:CAAAG:C	donor_loss	1.0000
9:67868564:AAA:A	donor_gain	1.0000
9:67868564:AAAGT:A	donor_loss	1.0000
9:67868565:AA:A	donor_gain	1.0000
9:67868565:AAGTA:A	donor_loss	1.0000
9:67868566:AGTA:A	donor_loss	1.0000
9:67868567:G:GG	donor_gain	1.0000
9:67868567:GTA:G	donor_loss	1.0000
9:67868568:TAAG:T	donor_loss	1.0000
9:67871150:T:G	acceptor_gain	1.0000

AlphaMissense

5489 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:67863218:G:C	A107P	0.983
9:67859548:C:A	A41D	0.977
9:67863287:G:C	D130H	0.972
9:67862941:A:C	R68S	0.969
9:67862941:A:T	R68S	0.969
9:67862946:C:A	A70D	0.969
9:67862958:C:A	A74D	0.966
9:67862985:T:A	V83D	0.965
9:67863289:T:A	D130E	0.965
9:67863289:T:G	D130E	0.965
9:67859547:G:C	A41P	0.962
9:67862962:T:G	C75W	0.961
9:67862960:T:C	C75R	0.960
9:67863354:T:C	L152P	0.956
9:67863255:T:A	L119Q	0.954
9:67863048:T:C	L104S	0.953
9:67863045:C:A	P103H	0.951
9:67863317:G:C	A140P	0.951
9:67863222:T:A	V108D	0.950
9:67859544:G:C	A40P	0.949
9:67868445:G:C	A206P	0.949
9:67862957:G:C	A74P	0.948
9:67863306:C:A	A136D	0.948
9:67867301:G:C	A173P	0.947
9:67859629:G:C	R68T	0.946
9:67867302:C:A	A173D	0.945
9:67863255:T:C	L119P	0.944
9:67863288:A:C	D130A	0.944
9:67863288:A:T	D130V	0.944
9:67868446:C:A	A206D	0.941

dbSNP variants (sampled 300 via entrez): RS1000594903 (9:67892711 A>C), RS1000960790 (9:67891148 G>A,C), RS1001447391 (9:67886176 T>A), RS1001883648 (9:67882641 C>T), RS1002481347 (9:67895978 G>C), RS1002859125 (9:67897136 G>A,C,T), RS1002902634 (9:67861390 CAA>C), RS1002932426 (9:67858715 G>A,T), RS1004789897 (9:67865567 G>A), RS1004820886 (9:67862627 A>G), RS1005800587 (9:67872329 A>G), RS1005823679 (9:67871965 T>C,G), RS1006852171 (9:67879268 A>T), RS1007376235 (9:67876921 A>C), RS1008268573 (9:67892576 AAGAC>A)

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

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Progesterone	decreases expression, affects cotreatment	1
Smoke	increases abundance, increases expression	1
Valproic Acid	increases methylation	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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