ANKRD54

Summary

ANKRD54 (ankyrin repeat domain 54, HGNC:25185) is a protein-coding gene on chromosome 22q13.1, encoding Ankyrin repeat domain-containing protein 54 (Q6NXT1). Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation.

Predicted to enable protein kinase regulator activity. Predicted to be involved in positive regulation of erythrocyte differentiation and regulation of intracellular signal transduction. Predicted to act upstream of or within nucleocytoplasmic transport and regulation of protein kinase activity. Predicted to be located in midbody. Predicted to be active in cytoplasm and nucleus.

Source: NCBI Gene 129138 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 67 total — 8 pathogenic, 2 likely-pathogenic
• Druggable target: yes
• MANE Select transcript: NM_138797

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25185
Approved symbol	ANKRD54
Name	ankyrin repeat domain 54
Location	22q13.1
Locus type	gene with protein product
Status	Approved
Aliases	LIAR
Ensembl gene	ENSG00000100124
Ensembl biotype	protein_coding
OMIM	613383
Entrez	129138

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 11 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000215941, ENST00000406423, ENST00000407117, ENST00000411961, ENST00000413497, ENST00000424350, ENST00000434930, ENST00000458278, ENST00000464849, ENST00000498417, ENST00000609454, ENST00000609706, ENST00000873382, ENST00000873383, ENST00000873384, ENST00000957324

RefSeq mRNA: 3 — MANE Select: NM_138797 NM_001349853, NM_001363839, NM_138797

CCDS: CCDS13959, CCDS87023

Canonical transcript exons

ENST00000215941 — 8 exons

Exon	Start	End
ENSE00000654072	37838500	37838598
ENSE00001932625	37830855	37832017
ENSE00001942631	37843911	37844334
ENSE00003554086	37832637	37832744
ENSE00003588517	37833684	37833755
ENSE00003594406	37840187	37840234
ENSE00003621201	37833159	37833206
ENSE00003668589	37832958	37833082

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 95.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.0033 / max 151.2561, expressed in 1805 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194094	8.5638	1757
194097	3.6455	1585
194096	0.7412	461
194093	0.5326	267
194092	0.2630	124
194090	0.2199	49
194091	0.0373	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	95.84	gold quality
kidney epithelium	UBERON:0004819	93.01	gold quality
right testis	UBERON:0004534	92.90	gold quality
left testis	UBERON:0004533	92.71	gold quality
adenohypophysis	UBERON:0002196	91.14	gold quality
testis	UBERON:0000473	91.07	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.99	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.89	gold quality
hypothalamus	UBERON:0001898	90.74	gold quality
cerebellar hemisphere	UBERON:0002245	90.72	gold quality
cerebellar cortex	UBERON:0002129	90.62	gold quality
upper arm skin	UBERON:0004263	90.61	gold quality
bronchial epithelial cell	CL:0002328	90.37	gold quality
left ovary	UBERON:0002119	90.25	gold quality
body of pancreas	UBERON:0001150	90.19	gold quality
right adrenal gland cortex	UBERON:0035827	90.13	gold quality
right frontal lobe	UBERON:0002810	90.10	gold quality
bronchus	UBERON:0002185	90.08	gold quality
amygdala	UBERON:0001876	89.97	gold quality
cerebellum	UBERON:0002037	89.97	gold quality
anterior cingulate cortex	UBERON:0009835	89.91	gold quality
pituitary gland	UBERON:0000007	89.85	gold quality
right adrenal gland	UBERON:0001233	89.63	gold quality
prefrontal cortex	UBERON:0000451	89.50	gold quality
right ovary	UBERON:0002118	89.39	gold quality
left adrenal gland cortex	UBERON:0035825	88.98	gold quality
left adrenal gland	UBERON:0001234	88.97	gold quality
mucosa of transverse colon	UBERON:0004991	88.88	gold quality
nucleus accumbens	UBERON:0001882	88.83	gold quality
adrenal cortex	UBERON:0001235	88.77	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.61

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting ANKRD54, 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-5193	100.00	67.26	1744
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-3147	99.52	66.34	388
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-3168	99.08	67.75	1384

Literature-anchored findings (GeneRIF, showing 2)

• Liar is the first protein identified that specifically influences the nucleocytoplasmic shuttling of Btk and Txk and belongs to a rare group of known proteins carrying out this activity in a Crm1-dependent manner. (PMID:22527282)
• the results show that the interaction between BTK and ANKRD54 is highly selective, since it was also identified in a screen using human SH3-domainome. A novel finding is that BTK not only binds to ANKRD54, but stands out as the preferred interactor, being highly dominant over all other human SH3-domains. (PMID:28369144)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankrd54	ENSDARG00000055743
mus_musculus	Ankrd54	ENSMUSG00000033055
rattus_norvegicus	Ankrd54	ENSRNOG00000010821
drosophila_melanogaster	wtrw	FBGN0260005
caenorhabditis_elegans		WBGENE00007801

Paralogs (1): ANKRD61 (ENSG00000157999)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 54 — Q6NXT1 (reviewed: Q6NXT1)

Alternative names: Lyn-interacting ankyrin repeat protein

All UniProt accessions (9): B5MCX7, C9JU48, C9JX82, D3YTC9, Q6NXT1, F8WB76, H7BZV9, H7C3L3, V9GYU2

UniProt curated annotations — full annotation on UniProt →

Function. Plays an important role in regulating intracellular signaling events associated with erythroid terminal differentiation.

Subunit / interactions. Interacts (via ankyrin repeat region) with LYN (via SH3-domain) in an activation-independent status of LYN. Forms a multiprotein complex with LYN and HCLS1. Interacts with TSN2, VAV1, DBNL and LASP1.

Subcellular location. Nucleus. Cytoplasm. Midbody.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6NXT1-1	1	yes
Q6NXT1-2	2

RefSeq proteins (3): NP_001336782, NP_001350768, NP_620152* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily

Pfam: PF00023, PF12796

UniProt features (16 total): repeat 4, modified residue 3, splice variant 2, region of interest 2, short sequence motif 2, initiator methionine 1, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6NXT1-F1	68.74	0.24

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 2, 58, 63

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 120 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_ERYTHROCYTE_DIFFERENTIATION, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_ERYTHROCYTE_HOMEOSTASIS, CACCAGC_MIR138, GOBP_NUCLEAR_TRANSPORT, GOBP_REGULATION_OF_HEMOPOIESIS, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_ERYTHROCYTE_DIFFERENTIATION, GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, BIDUS_METASTASIS_UP, CUI_TCF21_TARGETS_2_UP

GO Biological Process (3): nucleocytoplasmic transport (GO:0006913), positive regulation of erythrocyte differentiation (GO:0045648), regulation of intracellular signal transduction (GO:1902531)

GO Molecular Function (3): protein kinase regulator activity (GO:0019887), protein-containing complex binding (GO:0044877), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), midbody (GO:0030496)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cellular anatomical structure	2
nuclear transport	1
erythrocyte differentiation	1
positive regulation of myeloid cell differentiation	1
regulation of erythrocyte differentiation	1
regulation of signal transduction	1
intracellular signal transduction	1
protein kinase activity	1
kinase regulator activity	1
protein kinase binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1032 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD54	LIAS	O43766	942
ANKRD54	LASP1	Q14847	544
ANKRD54	LIMA1	Q9UHB6	538
ANKRD54	DBNL	P84070	515
ANKRD54	TXK	P42681	498
ANKRD54	EPS8L1	Q8TE68	469
ANKRD54	VAV1	P15498	449
ANKRD54	BLOC1S6	Q9UL45	447
ANKRD54	HNRNPK	P61978	443
ANKRD54	PRKDC	P78527	425
ANKRD54	SH3KBP1	Q96B97	419
ANKRD54	MYH9	P35579	413
ANKRD54	ARHGAP26	Q9UNA1	402
ANKRD54	ABL1	P00519	386
ANKRD54	GPSM1	Q86YR5	382

IntAct

38 interactions, top by confidence:

A	B	Type	Score
ANKRD54	TULP3	psi-mi:“MI:0915”(physical association)	0.930
TULP3	ANKRD54	psi-mi:“MI:0915”(physical association)	0.930
ANKRD54	TULP3	psi-mi:“MI:0914”(association)	0.930
TULP3	GGPS1	psi-mi:“MI:0914”(association)	0.640
CCNG1	ZZEF1	psi-mi:“MI:0914”(association)	0.530
DOCK5	DOCK1	psi-mi:“MI:0914”(association)	0.500
BLK	EEF1E1	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
DOCK5	DPYSL4	psi-mi:“MI:0914”(association)	0.350
TULP3	PPP1R12A	psi-mi:“MI:0914”(association)	0.350
BTK	HSP90AA1	psi-mi:“MI:0914”(association)	0.350
DOCK1	SURF4	psi-mi:“MI:0914”(association)	0.350
LYN	TOM1L1	psi-mi:“MI:0914”(association)	0.350
TEC	SEC16A	psi-mi:“MI:0914”(association)	0.350
BLK	CNOT1	psi-mi:“MI:0914”(association)	0.350
BTK	HCK	psi-mi:“MI:0914”(association)	0.350
CSNK2A2	VWA8	psi-mi:“MI:0914”(association)	0.350
PIP	RBM47	psi-mi:“MI:0914”(association)	0.350
SNX33	MAP1LC3B2	psi-mi:“MI:0914”(association)	0.350
TUB	NME4	psi-mi:“MI:0914”(association)	0.350
SORBS3	SYNJ1	psi-mi:“MI:0914”(association)	0.350
G0S2	OIP5	psi-mi:“MI:0914”(association)	0.350
CTTN	FECH	psi-mi:“MI:0914”(association)	0.350
DOCK5	ACACB	psi-mi:“MI:0914”(association)	0.350

BioGRID (52): ANKRD54 (Two-hybrid), ANKRD54 (Affinity Capture-MS), ANKRD54 (Affinity Capture-MS), ANKRD54 (Affinity Capture-MS), ANKRD54 (Affinity Capture-MS), ANKRD54 (Affinity Capture-MS), ANKRD54 (Affinity Capture-MS), ANKRD54 (Two-hybrid), ANKRD54 (Affinity Capture-MS), ANKRD54 (Affinity Capture-MS), ANKRD54 (Affinity Capture-MS), ANKRD54 (Affinity Capture-MS), ANKRD54 (Affinity Capture-MS), ANKRD54 (Affinity Capture-MS), ANKRD54 (Affinity Capture-MS)

ESM2 similar proteins: A0A2R8Y7D0, A3KMV1, A6NDN8, B9EHT4, D3YWQ0, F1MAB7, O23702, O54788, O75426, O76075, P04413, P0C5J9, P49897, P55073, Q1LZC5, Q28969, Q2T9Z2, Q2VPJ9, Q39491, Q3MHJ7, Q3TGW2, Q4R327, Q57VU6, Q58CZ0, Q5BIR3, Q5I3B1, Q5R4R7, Q5R686, Q5SPX3, Q5XI74, Q6DN07, Q6NXT1, Q6P7W2, Q6QN11, Q6X4W1, Q7L9B9, Q7TPD7, Q80TL4, Q8K485, Q8TBC3

Diamond homologs: Q1LZC5, Q566C8, Q6DGX3, Q6NXT1, Q91WK7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PRKCD	“up-regulates activity”	ANKRD54	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 40 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
FCGR3A-mediated phagocytosis	5	30.2×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	8
Likely pathogenic	2
Uncertain significance	39
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	Pathogenic
2423540	NC_000022.10:g.(?38097373)(39306081_?)del	Pathogenic
441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	Pathogenic
442145	GRCh37/hg19 22q12.3-13.1(chr22:36877226-38548989)x1	Pathogenic
442777	GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1	Pathogenic
57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	Pathogenic
57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	Pathogenic
816564	GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1	Pathogenic
1526736	GRCh37/hg19 22q13.1(chr22:38116341-38369048)	Likely pathogenic
443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	Likely pathogenic

SpliceAI

1156 predictions. Top by Δscore:

Variant	Effect	Δscore
22:37832014:CCAC:C	acceptor_gain	1.0000
22:37832015:CAC:C	acceptor_gain	1.0000
22:37832015:CACC:C	acceptor_gain	1.0000
22:37832017:CCTGC:C	acceptor_loss	1.0000
22:37832018:C:CC	acceptor_gain	1.0000
22:37832019:T:A	acceptor_loss	1.0000
22:37832631:GCTCA:G	donor_loss	1.0000
22:37832632:CTCAC:C	donor_loss	1.0000
22:37832633:TCAC:T	donor_loss	1.0000
22:37832634:CA:C	donor_loss	1.0000
22:37832635:A:AC	donor_gain	1.0000
22:37832636:C:CC	donor_gain	1.0000
22:37832636:CCTG:C	donor_gain	1.0000
22:37832741:TGAT:T	acceptor_gain	1.0000
22:37832744:TCT:T	acceptor_loss	1.0000
22:37832745:C:CC	acceptor_gain	1.0000
22:37832953:CTCA:C	donor_loss	1.0000
22:37832954:TCAC:T	donor_loss	1.0000
22:37832955:CACCT:C	donor_loss	1.0000
22:37832956:A:AC	donor_gain	1.0000
22:37832957:C:CC	donor_gain	1.0000
22:37832957:CCTG:C	donor_gain	1.0000
22:37833204:CCG:C	acceptor_gain	1.0000
22:37833205:CG:C	acceptor_gain	1.0000
22:37833205:CGC:C	acceptor_gain	1.0000
22:37833207:C:CC	acceptor_gain	1.0000
22:37833756:C:CC	acceptor_gain	1.0000
22:37838499:CCAAT:C	donor_gain	1.0000
22:37838594:CTGCA:C	acceptor_gain	1.0000
22:37838597:CA:C	acceptor_gain	1.0000

AlphaMissense

1921 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:37833031:G:T	A216D	0.999
22:37833034:A:G	L215P	0.999
22:37833049:C:G	R210P	0.999
22:37833061:T:A	D206V	0.999
22:37833062:C:G	D206H	0.999
22:37833170:A:G	L195P	0.999
22:37833686:A:G	L182P	0.999
22:37833713:T:A	D173V	0.999
22:37833713:T:G	D173A	0.999
22:37833714:C:G	D173H	0.999
22:37833746:A:G	L162P	0.999
22:37840210:G:T	A118D	0.999
22:37832731:A:G	L245P	0.998
22:37833043:G:T	P212H	0.998
22:37833060:G:C	D206E	0.998
22:37833060:G:T	D206E	0.998
22:37833061:T:G	D206A	0.998
22:37833062:C:A	D206Y	0.998
22:37833167:A:G	L196P	0.998
22:37833203:G:T	A184D	0.998
22:37833704:C:A	G176V	0.998
22:37833712:A:C	D173E	0.998
22:37833712:A:T	D173E	0.998
22:37833743:A:G	L163P	0.998
22:37838528:A:C	F149L	0.998
22:37838528:A:T	F149L	0.998
22:37838530:A:G	F149L	0.998
22:37838545:G:T	R144S	0.998
22:37838556:T:A	D140V	0.998
22:37833050:G:T	R210S	0.997

dbSNP variants (sampled 300 via entrez): RS1000087606 (22:37839400 T>G), RS1000220719 (22:37841891 A>AT), RS1000251975 (22:37844949 G>A,T), RS1000372282 (22:37838959 G>GC), RS1000380440 (22:37844546 G>A,C), RS1000781131 (22:37834885 ACTGT>A), RS1000849350 (22:37850592 A>C,G), RS1000890007 (22:37839228 T>C), RS1001003658 (22:37834890 C>T), RS1001084503 (22:37840594 C>A,T), RS1001169855 (22:37850230 T>G), RS1001279989 (22:37840087 G>A,T), RS1001382673 (22:37847850 C>G,T), RS1001464413 (22:37831888 G>A), RS1001485336 (22:37847541 C>T)

Disease associations

OMIM: gene MIM:613383 | disease phenotypes: MIM:616398, MIM:310300, MIM:256600

GenCC curated gene-disease

Mondo (3): myoclonic dystonia 26 (MONDO:0014620), Emery-Dreifuss muscular dystrophy (MONDO:0016830), neurodegeneration with brain iron accumulation 2A (MONDO:0024457)

Orphanet (2): Emery-Dreifuss muscular dystrophy (Orphanet:261), Infantile neuroaxonal dystrophy (Orphanet:35069)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010703_11	Brain morphology (MOSTest)	9.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D020389	Muscular Dystrophy, Emery-Dreifuss	C05.651.534.500.350; C10.668.491.175.500.350; C16.320.322.625; C16.320.577.350
C536071	Hunter Carpenter Macdonald syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067434 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.41	Kd	38.79	nM	CHEMBL5653589
7.41	ED50	38.79	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147850: Binding affinity to human ANKRD54 incubated for 45 mins by Kinobead based pull down assay	kd	0.0388	uM

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Smoke	decreases expression, increases abundance, increases expression	2
Valproic Acid	affects expression, increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	increases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Caffeine	decreases phosphorylation	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	increases expression	1
Cyclosporine	decreases expression	1
Copper Sulfate	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5650892	Binding	Binding affinity to human ANKRD54 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03726996	PHASE4	TERMINATED	Desipramine in Infantile Neuroaxonal Dystrophy (INAD).
NCT01403402	Not specified	RECRUITING	Congenital Muscle Disease Study of Patient and Family Reported Medical Information
NCT03570931	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	A Study to Assess Efficacy and Safety of RT001 in Subjects With Infantile Neuroaxonal Dystrophy
NCT03999814	Not specified	COMPLETED	Natural History of Infantile Neuroaxonal Dystrophy
NCT06203106	Not specified	RECRUITING	NYSCF Scientific Discovery Biobank