ANKRD60

Summary

ANKRD60 (ankyrin repeat domain 60, HGNC:16217) is a protein-coding gene on chromosome 20q13.32, encoding Ankyrin repeat domain-containing protein 60 (Q9BZ19).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 3 total — 1 pathogenic
• MANE Select transcript: NM_001304369

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16217
Approved symbol	ANKRD60
Name	ankyrin repeat domain 60
Location	20q13.32
Locus type	gene with protein product
Status	Approved
Aliases	bA196N14.3
Ensembl gene	ENSG00000124227
Ensembl biotype	protein_coding
Entrez	140731

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000457363

RefSeq mRNA: 1 — MANE Select: NM_001304369 NM_001304369

CCDS: CCDS77596

Canonical transcript exons

ENST00000457363 — 4 exons

Exon	Start	End
ENSE00000845778	58221338	58221503
ENSE00000845779	58223052	58223182
ENSE00001774889	58228224	58228653
ENSE00003462706	58216126	58218805

Expression profiles

Bgee: expression breadth tissue_specific, 9 present calls, max score 63.41.

FANTOM5 (CAGE): breadth not_expressed, TPM avg 0.0013 / max 0.7123, expressed in 0 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
188153	0.0013	0

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	63.41	gold quality
left testis	UBERON:0004533	60.81	gold quality
tendon of biceps brachii	UBERON:0008188	60.79	gold quality
myocardium	UBERON:0002349	60.58	gold quality
parotid gland	UBERON:0001831	60.29	gold quality
testis	UBERON:0000473	59.24	gold quality
endothelial cell	CL:0000115	55.57	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	55.28	gold quality
heart right ventricle	UBERON:0002080	53.56	gold quality
decidua	UBERON:0002450	53.07	gold quality
esophagus squamous epithelium	UBERON:0006920	53.04	gold quality
nasal cavity epithelium	UBERON:0005384	52.24	gold quality
sperm	CL:0000019	51.18	gold quality
lateral globus pallidus	UBERON:0002476	50.60	gold quality
buccal mucosa cell	CL:0002336	49.60	gold quality
medial globus pallidus	UBERON:0002477	48.61	gold quality
globus pallidus	UBERON:0001875	48.28	gold quality
vastus lateralis	UBERON:0001379	48.07	gold quality
quadriceps femoris	UBERON:0001377	47.89	gold quality
deltoid	UBERON:0001476	46.07	gold quality
gingiva	UBERON:0001828	45.85	gold quality
adult organism	UBERON:0007023	45.56	gold quality
gingival epithelium	UBERON:0001949	44.99	gold quality
amniotic fluid	UBERON:0000173	44.42	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
skeletal muscle tissue	UBERON:0001134	42.77	gold quality
biceps brachii	UBERON:0001507	42.72	gold quality
epithelium of nasopharynx	UBERON:0001951	42.59	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
body of tongue	UBERON:0011876	42.52	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

81 targeting ANKRD60, 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-3613-3P	100.00	76.36	7965
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-106A-3P	99.53	67.58	995
HSA-MIR-3123	99.47	67.15	2693

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ankrd60	ENSMUSG00000027517
rattus_norvegicus	Ankrd60	ENSRNOG00000070627

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 60 — Q9BZ19 (reviewed: Q9BZ19)

All UniProt accessions (1): Q9BZ19

RefSeq proteins (1): NP_001291298* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000626	Ubiquitin-like_dom	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR039323	ANKRD_45/46/60	Family

Pfam: PF12796

UniProt features (9 total): compositionally biased region 3, repeat 2, chain 1, domain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BZ19-F1	74.40	0.52

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 17 (showing top): GSE45365_NK_CELL_VS_BCELL_DN, PAX3_TARGET_GENES, MIR3925_5P, MIR9851_5P, MIR3190_5P, MIR6751_5P, MIR6803_5P, MIR1225_5P, MYOCD_TARGET_GENES, GSE9946_MATURE_STIMULATORY_VS_PROSTAGLANDINE2_TREATED_MATURE_DC_UP, GSE12484_HEALTHY_VS_PERIDONTITIS_NEUTROPHILS_DN, GSE12505_WT_VS_E2_2_HET_PDC_UP, GSE12839_CTRL_VS_IL12_TREATED_PBMC_DN, GSE7459_UNTREATED_VS_IL6_TREATED_ACT_CD4_TCELL_UP, GSE34205_RSV_VS_FLU_INF_INFANT_PBMC_UP

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

879 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD60	LRRC63	Q05C16	606
ANKRD60	CFAP141	Q5VU69	580
ANKRD60	SPATA31A1	Q5TZJ5	571
ANKRD60	LRRC43	Q8N309	545
ANKRD60	CCDC74B	Q96LY2	528
ANKRD60	SPMIP10	Q6ZNM6	527
ANKRD60	MTRNR2L3	P0CJ70	507
ANKRD60	TTLL8	A6PVC2	493
ANKRD60	CFAP47	Q6ZTR5	482
ANKRD60	FAM47C	Q5HY64	480
ANKRD60	C12orf42	Q96LP6	479
ANKRD60	DYDC1	Q8WWB3	473
ANKRD60	FAM181A	Q8N9Y4	447
ANKRD60	APCDD1L	Q8NCL9	405
ANKRD60	ANKRD35	Q8N283	400
ANKRD60	CIMIP1	Q9H1P6	400

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0JNQ6, A6NC42, A6NFN9, A6NGQ2, A6QLD5, A7MB64, A9X185, E9PGG2, F6SZT2, O35144, P0C7A0, P85965, P97432, Q06VW1, Q0ZFW8, Q14596, Q15554, Q1T7C0, Q3TYG6, Q3UK37, Q3UWR2, Q3V3A7, Q4KL78, Q4VXA5, Q501R9, Q587J8, Q5JSQ8, Q5RA50, Q5RC94, Q60953, Q6ZUX3, Q86V42, Q8BH06, Q8C0R7, Q8CDF7, Q8IWB1, Q8N9B5, Q8TE82, Q91WA6, Q96M69

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	1
Likely pathogenic	0
Uncertain significance	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1526693	GRCh37/hg19 20q13.31-13.32(chr20:55292205-57866365)	Pathogenic

SpliceAI

793 predictions. Top by Δscore:

Variant	Effect	Δscore
20:58228148:C:A	donor_gain	1.0000
20:58228147:T:TA	donor_gain	0.9900
20:58219394:C:A	donor_gain	0.9800
20:58228236:A:AC	donor_gain	0.9800
20:58228237:C:CC	donor_gain	0.9800
20:58219465:G:C	donor_gain	0.9700
20:58221322:TTTC:T	donor_gain	0.9600
20:58221323:TTCT:T	donor_gain	0.9600
20:58223017:A:C	donor_gain	0.9600
20:58218804:TCC:T	acceptor_loss	0.9500
20:58218806:C:CA	acceptor_loss	0.9500
20:58218806:C:CC	acceptor_gain	0.9500
20:58218807:T:G	acceptor_loss	0.9500
20:58219393:T:TA	donor_gain	0.9500
20:58221355:TG:T	donor_gain	0.9500
20:58228134:A:AC	donor_gain	0.9500
20:58228135:C:CC	donor_gain	0.9500
20:58228165:T:TA	donor_gain	0.9500
20:58218808:G:C	acceptor_loss	0.9400
20:58219469:AGTG:A	donor_gain	0.9400
20:58221325:C:CT	donor_gain	0.9400
20:58221326:T:TT	donor_gain	0.9400
20:58218803:CTC:C	acceptor_gain	0.9000
20:58221407:C:CA	donor_gain	0.9000
20:58223012:TCGTA:T	donor_gain	0.9000
20:58228226:T:A	donor_gain	0.9000
20:58219431:T:C	donor_gain	0.8900
20:58219987:CCCA:C	donor_gain	0.8900
20:58227841:TTGGG:T	donor_gain	0.8900
20:58221434:TCTC:T	donor_gain	0.8800

AlphaMissense

2230 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:58223096:A:G	W173R	0.979
20:58223096:A:T	W173R	0.979
20:58228292:A:G	L121P	0.978
20:58228288:T:A	K122N	0.976
20:58228288:T:G	K122N	0.976
20:58218686:C:G	D283H	0.970
20:58218752:C:G	A261P	0.968
20:58223075:C:G	A180P	0.965
20:58228333:G:C	F107L	0.962
20:58228333:G:T	F107L	0.962
20:58228335:A:G	F107L	0.962
20:58223066:C:A	G183W	0.959
20:58228280:A:G	L125P	0.957
20:58218771:C:A	R254S	0.956
20:58218771:C:G	R254S	0.956
20:58221408:C:A	R219S	0.956
20:58221408:C:G	R219S	0.956
20:58218684:A:C	D283E	0.952
20:58218684:A:T	D283E	0.952
20:58223094:C:A	W173C	0.952
20:58223094:C:G	W173C	0.952
20:58228289:T:A	K122I	0.952
20:58218754:G:T	A260D	0.950
20:58228372:G:C	F94L	0.950
20:58228372:G:T	F94L	0.950
20:58228374:A:G	F94L	0.950
20:58223074:G:T	A180D	0.949
20:58223083:A:T	V177D	0.947
20:58218685:T:A	D283V	0.946
20:58218685:T:G	D283A	0.946

dbSNP variants (sampled 300 via entrez): RS1000549632 (20:58228722 C>A,G,T), RS1000813832 (20:58215745 G>T), RS1000951879 (20:58217173 G>A), RS1001097610 (20:58222667 C>A), RS1001263498 (20:58222462 A>G), RS1001422451 (20:58216949 C>T), RS1001441735 (20:58225576 C>T), RS1001459926 (20:58228428 G>A), RS1001548079 (20:58227130 G>A), RS1001552078 (20:58224995 C>T), RS1001813539 (20:58224490 T>G), RS1001894830 (20:58217149 G>A), RS1001964560 (20:58218338 C>T), RS1002054385 (20:58226896 G>A), RS1002388940 (20:58220548 T>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

1 associations (top):

Study	Trait	p-value
GCST000522_3	Height	6.000000e-06

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
2-methyl-4-isothiazolin-3-one	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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