ANKRD10

Summary

ANKRD10 (ankyrin repeat domain 10, HGNC:20265) is a protein-coding gene on chromosome 13q34, encoding Ankyrin repeat domain-containing protein 10 (Q9NXR5).

Predicted to be involved in protein targeting to chloroplast. Located in nucleoplasm.

Source: NCBI Gene 55608 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 58 total
• MANE Select transcript: NM_017664

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20265
Approved symbol	ANKRD10
Name	ankyrin repeat domain 10
Location	13q34
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20093
Ensembl gene	ENSG00000088448
Ensembl biotype	protein_coding
Entrez	55608

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 14 protein_coding, 7 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000267339, ENST00000310847, ENST00000460846, ENST00000463156, ENST00000464579, ENST00000465753, ENST00000475809, ENST00000485844, ENST00000489973, ENST00000494859, ENST00000603993, ENST00000886508, ENST00000886509, ENST00000886510, ENST00000886511, ENST00000886512, ENST00000886513, ENST00000886514, ENST00000930250, ENST00000930251, ENST00000956310, ENST00000956311

RefSeq mRNA: 2 — MANE Select: NM_017664 NM_001286721, NM_017664

CCDS: CCDS66580, CCDS9520

Canonical transcript exons

ENST00000267339 — 6 exons

Exon	Start	End
ENSE00001137212	110878540	110880112
ENSE00001193039	110914725	110915069
ENSE00003465128	110883698	110883793
ENSE00003468677	110906033	110906124
ENSE00003583167	110910618	110910770
ENSE00003673175	110893028	110893263

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 99.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 68.0047 / max 632.5256, expressed in 1824 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
138283	63.8193	1824
138282	1.8043	834
138281	1.3679	700
138284	0.7196	441
138279	0.2178	68
138280	0.0758	33

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	99.50	gold quality
right uterine tube	UBERON:0001302	99.46	gold quality
tibial nerve	UBERON:0001323	99.42	gold quality
right ovary	UBERON:0002118	99.36	gold quality
left ovary	UBERON:0002119	99.35	gold quality
body of uterus	UBERON:0009853	99.33	gold quality
adenohypophysis	UBERON:0002196	99.32	gold quality
mucosa of stomach	UBERON:0001199	99.29	gold quality
endocervix	UBERON:0000458	99.28	gold quality
body of pancreas	UBERON:0001150	99.25	gold quality
adrenal tissue	UBERON:0018303	99.24	gold quality
gall bladder	UBERON:0002110	99.20	gold quality
left uterine tube	UBERON:0001303	99.14	gold quality
left lobe of thyroid gland	UBERON:0001120	99.11	gold quality
rectum	UBERON:0001052	99.09	gold quality
right lobe of thyroid gland	UBERON:0001119	99.09	gold quality
secondary oocyte	CL:0000655	99.07	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.07	gold quality
metanephros cortex	UBERON:0010533	99.04	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.96	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.96	gold quality
right coronary artery	UBERON:0001625	98.91	gold quality
right lung	UBERON:0002167	98.91	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.88	gold quality
lower esophagus	UBERON:0013473	98.87	gold quality
transverse colon	UBERON:0001157	98.85	gold quality
minor salivary gland	UBERON:0001830	98.85	gold quality
body of stomach	UBERON:0001161	98.84	gold quality
descending thoracic aorta	UBERON:0002345	98.83	gold quality
pituitary gland	UBERON:0000007	98.82	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-9067	yes	10.64
E-CURD-88	yes	4.41
E-GEOD-70580	no	1058.33
E-GEOD-124858	no	762.71
E-MTAB-6819	no	564.49
E-MTAB-10137	no	4.52
E-MTAB-9801	no	3.75
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

34 targeting ANKRD10, 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-188-3P	100.00	68.76	1240
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-5693	99.24	66.67	1106
HSA-MIR-10399-5P	99.17	69.87	2610
HSA-MIR-6504-3P	99.17	69.31	2891
HSA-MIR-3145-5P	98.57	67.83	900
HSA-MIR-4736	97.96	65.89	1287

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankrd10b	ENSDARG00000004771
danio_rerio	ankrd10a	ENSDARG00000037100
mus_musculus	Ankrd10	ENSMUSG00000031508
rattus_norvegicus	Ankrd10	ENSRNOG00000064616

Paralogs (2): ANKRD6 (ENSG00000135299), NRARP (ENSG00000198435)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 10 — Q9NXR5 (reviewed: Q9NXR5)

All UniProt accessions (3): Q9NXR5, Q8IUW1, S4R3R2

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NXR5-1	1	yes
Q9NXR5-2	2

RefSeq proteins (2): NP_001273650, NP_060134* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR050776	Ank_Repeat/CDKN_Inhibitor	Family

Pfam: PF00023, PF12796

UniProt features (9 total): repeat 4, splice variant 2, chain 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NXR5-F1	63.99	0.34

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 161 (showing top): WWTAAGGC_UNKNOWN, GCM_GSPT1, TTTGTAG_MIR520D, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MITSIADES_RESPONSE_TO_APLIDIN_DN, ONKEN_UVEAL_MELANOMA_UP, chr13q34, LIAO_METASTASIS, BROWN_MYELOID_CELL_DEVELOPMENT_DN, DING_LUNG_CANCER_EXPRESSION_BY_COPY_NUMBER, GCM_NF2, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, LEE_RECENT_THYMIC_EMIGRANT, ROVERSI_GLIOMA_COPY_NUMBER_DN

GO Biological Process (0):

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

GO Cellular Component (1): nucleoplasm (GO:0005654)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1050 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD10	TEN1	Q86WV5	545
ANKRD10	TMEM52	Q8NDY8	489
ANKRD10	CEP19	Q96LK0	474
ANKRD10	SNX25	Q9H3E2	472
ANKRD10	SUGP2	Q8IX01	455
ANKRD10	C1orf105	O95561	452
ANKRD10	DCXR	Q7Z4W1	438
ANKRD10	MOGAT1	Q96PD6	435
ANKRD10	ARPP21	Q9UBL0	429
ANKRD10	GPM6A	P51674	418
ANKRD10	FCF1	Q9Y324	417
ANKRD10	CDKL3	Q8IVW4	411
ANKRD10	PMS1	P54277	396
ANKRD10	DLEU7	Q6UYE1	387
ANKRD10	RRP8	O43159	383

IntAct

8 interactions, top by confidence:

A	B	Type	Score
ANKRD10	APPBP2	psi-mi:“MI:0915”(physical association)	0.560
APPBP2	ANKRD10	psi-mi:“MI:0915”(physical association)	0.560
ANKRD10	DPP9	psi-mi:“MI:0915”(physical association)	0.500
ANKRD10	TRIP6	psi-mi:“MI:0914”(association)	0.350
GAPDH	ERLIN2	psi-mi:“MI:0914”(association)	0.350
ANKRD10	SETX	psi-mi:“MI:0914”(association)	0.350

BioGRID (26): ANKRD10 (Two-hybrid), ANKRD10 (Affinity Capture-RNA), DPP9 (Affinity Capture-MS), CHRNA9 (Affinity Capture-MS), ANKRD10 (Two-hybrid), ANKRD10 (Two-hybrid), CSTF2 (Two-hybrid), POU6F2 (Two-hybrid), OTX1 (Two-hybrid), SNRPC (Two-hybrid), POGZ (Two-hybrid), GIGYF1 (Two-hybrid), SHC3 (Two-hybrid), ZIC1 (Two-hybrid), PEF1 (Two-hybrid)

ESM2 similar proteins: A5PMU4, B4E2M5, O14593, O15040, P55266, P59672, P97432, Q14596, Q2HJ90, Q2KI79, Q3U0J8, Q3U0L2, Q3UMR0, Q3V096, Q4KM95, Q501R9, Q5EAN7, Q5F3F2, Q5M9H0, Q5RC94, Q5REW9, Q5SUE8, Q6AI12, Q6ZW76, Q6ZWE6, Q7TN31, Q80TL0, Q80Z30, Q810L3, Q8BIZ1, Q8BM47, Q8IZE3, Q8N9B4, Q8WY54, Q91VL8, Q92625, Q96NW4, Q99LW0, Q99PE2, Q9CZ62

Diamond homologs: B0G124, B4E2M5, C7B178, L7XCU0, O43150, O75762, O95271, P25631, P28492, P77736, Q01317, Q0VC93, Q10728, Q28FJ2, Q3KP44, Q3SX45, Q3UES3, Q3UMT1, Q3UX43, Q3V096, Q4R7L8, Q569N2, Q571F8, Q5EA33, Q5RD76, Q5SUE8, Q5U464, Q5ZLC6, Q5ZLC8, Q6AI12, Q6PFX9, Q6RI86, Q7SIG6, Q7XUW4, Q7Z713, Q86WC6, Q8BTI7, Q8N6D5, Q8N9B4, Q8NB46

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	47
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2049 predictions. Top by Δscore:

Variant	Effect	Δscore
13:110883551:A:AC	donor_gain	1.0000
13:110883552:C:CC	donor_gain	1.0000
13:110883555:ATT:A	donor_gain	1.0000
13:110883557:T:TA	donor_gain	1.0000
13:110883631:T:A	donor_gain	1.0000
13:110883649:TCA:T	donor_gain	1.0000
13:110883790:TGAG:T	acceptor_gain	1.0000
13:110883791:GAG:G	acceptor_gain	1.0000
13:110883791:GAGC:G	acceptor_loss	1.0000
13:110883793:GC:G	acceptor_loss	1.0000
13:110883794:C:CA	acceptor_loss	1.0000
13:110883794:C:CC	acceptor_gain	1.0000
13:110906026:CACTT:C	donor_loss	1.0000
13:110906027:ACTTA:A	donor_loss	1.0000
13:110906028:CTTA:C	donor_loss	1.0000
13:110906029:TTAC:T	donor_loss	1.0000
13:110906030:TACTC:T	donor_loss	1.0000
13:110906031:A:AC	donor_gain	1.0000
13:110906032:C:CG	donor_gain	1.0000
13:110906032:C:T	donor_loss	1.0000
13:110906032:CT:C	donor_gain	1.0000
13:110906032:CTCGA:C	donor_gain	1.0000
13:110910612:TCTTA:T	donor_loss	1.0000
13:110910613:CTTA:C	donor_loss	1.0000
13:110910614:TTA:T	donor_loss	1.0000
13:110910615:T:TG	donor_loss	1.0000
13:110910616:A:AC	donor_gain	1.0000
13:110910616:A:AG	donor_loss	1.0000
13:110910617:C:CC	donor_gain	1.0000
13:110910767:CCAA:C	acceptor_gain	1.0000

AlphaMissense

2774 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:110914743:C:A	W64C	0.999
13:110914743:C:G	W64C	0.999
13:110914745:A:G	W64R	0.999
13:110914745:A:T	W64R	0.999
13:110914760:A:G	W59R	0.999
13:110914760:A:T	W59R	0.999
13:110914843:C:G	R31P	0.999
13:110906090:G:T	A133D	0.998
13:110906095:C:A	K131N	0.998
13:110906095:C:G	K131N	0.998
13:110910649:A:G	L111P	0.998
13:110910678:A:C	F101L	0.998
13:110910678:A:T	F101L	0.998
13:110910680:A:G	F101L	0.998
13:110914729:C:A	G69V	0.998
13:110914753:G:T	P61H	0.998
13:110914758:C:A	W59C	0.998
13:110914758:C:G	W59C	0.998
13:110914775:C:G	D54H	0.998
13:110914845:G:C	C30W	0.998
13:110914846:C:T	C30Y	0.998
13:110914847:A:G	C30R	0.998
13:110910682:G:T	A100D	0.997
13:110914731:G:C	F68L	0.997
13:110914731:G:T	F68L	0.997
13:110914733:A:G	F68L	0.997
13:110914741:G:T	A65D	0.997
13:110914744:C:G	W64S	0.997
13:110914759:C:G	W59S	0.997
13:110906094:C:G	A132P	0.996

dbSNP variants (sampled 300 via entrez): RS1000007324 (13:110903531 A>G), RS1000160980 (13:110892018 C>T), RS1000165963 (13:110883041 A>G), RS1000197587 (13:110894889 C>A,G), RS1000278966 (13:110898051 A>G), RS1000290829 (13:110910031 G>T), RS1000496067 (13:110893388 T>A), RS1000510665 (13:110887832 T>C,G), RS1000635023 (13:110898625 AGT>A), RS1000646356 (13:110899189 C>T), RS1000715869 (13:110897734 A>C), RS1000735776 (13:110888607 C>T), RS1000744993 (13:110893019 C>G,T), RS1001018357 (13:110899406 C>T), RS1001056930 (13:110914525 C>A,G,T)

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

3 associations (top):

Study	Trait	p-value
GCST010002_195	Refractive error	6.000000e-09
GCST010241_318	Apolipoprotein A1 levels	2.000000e-08
GCST010396_56	Gut microbiota (bacterial taxa, hurdle binary method)	8.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004614	apolipoprotein A 1 measurement
EFO:0007874	gut microbiome measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

55 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases methylation	4
methylmercuric chloride	increases expression	3
sodium arsenite	increases abundance, decreases expression, affects cotreatment	2
Arsenic	affects expression, affects cotreatment, decreases expression, increases abundance	2
Benzo(a)pyrene	increases expression	2
Smoke	decreases expression, decreases reaction	2
Tobacco Smoke Pollution	increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
lead acetate	decreases expression	1
2-butenal	decreases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
mono(2-ethyl-5-oxohexyl)phthalate	affects expression	1
entinostat	decreases expression	1
K 7174	increases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
picoxystrobin	decreases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Decitabine	decreases expression, decreases reaction	1
Zoledronic Acid	increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1

Clinical trials (associated diseases)

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